p57Kip2

Summary

Gene Symbol: p57Kip2
Description: cyclin dependent kinase inhibitor 1C
Alias: BWCR, BWS, KIP2, WBS, p57, p57Kip2, cyclin-dependent kinase inhibitor 1C, cyclin-dependent kinase inhibitor 1C (p57, Kip2), cyclin-dependent kinase inhibitor p57
Species: human

Top Publications

  1. pmc Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15
    S Matsuoka
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 93:3026-30. 1996
  2. ncbi Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
    Angela Sparago
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 16:254-64. 2007
  3. pmc Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1802, USA
    J Clin Endocrinol Metab 94:1826-34. 2009
  4. pmc Akt and ERK control the proliferative response of mammary epithelial cells to the growth factors IGF-1 and EGF through the cell cycle inhibitor p57Kip2
    Devin T Worster
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Sci Signal 5:ra19. 2012
  5. ncbi p57Kip2 regulates actin dynamics by binding and translocating LIM-kinase 1 to the nucleus
    Tomotaka Yokoo
    Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba, 1 1 1 Tennodai, Tsukuba, Ibaraki 305 8575, Japan
    J Biol Chem 278:52919-23. 2003
  6. ncbi Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution
    M H Lee
    Cell Biology and Genetics Program, Howard Hughes Medical Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Genes Dev 9:639-49. 1995
  7. ncbi p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene
    S Matsuoka
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030 USA
    Genes Dev 9:650-62. 1995
  8. ncbi Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis
    T Tokino
    Laboratory of Molecular Medicine, The Institute of Medical Science, The University of Tokyo, Japan
    Hum Genet 97:625-31. 1996
  9. ncbi An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome
    I Hatada
    National Cardiovascular Center Research Institute, Osaka, Japan
    Nat Genet 14:171-3. 1996
  10. pmc Suppression of cell transformation by the cyclin-dependent kinase inhibitor p57KIP2 requires binding to proliferating cell nuclear antigen
    H Watanabe
    Department of Biochemistry and Biophysics, Lineberger Comprehensive Cancer Center, and Program in Molecular Biology and Biotechnology, University of North Carolina, Chapel Hill, NC 27599 3280, USA
    Proc Natl Acad Sci U S A 95:1392-7. 1998

Research Grants

  1. Role of TFII-I in signal transduction by growth factors
    BRENT COCHRAN; Fiscal Year: 2004
  2. Function of Genes in Williams Syndrome Deletion Region
    Uta Francke; Fiscal Year: 2005
  3. Comparison of post-SCI locomotor training techniques
    EDELLE FIELD FOTE; Fiscal Year: 2006
  4. Treatment of Motor Function and Balance- A New Tool
    Lars Oddsson; Fiscal Year: 2006
  5. MOLECULAR ANALYSIS OF WILLIAMS SYNDROME
    Ananda Roy; Fiscal Year: 2007
  6. Marisa S Bartolomei; Fiscal Year: 2016
  7. Establishment of a phenotypical model of adverse outcomes associated with ART
    KEVIN DALE WELLS; Fiscal Year: 2011
  8. EPIGENETIC REGULATION IN A CANCER ASSOCIATED REGION
    Michael J Higgins; Fiscal Year: 2012
  9. TUMOR SUPPRESSORS AND IMPRINTING AT CHROMOSOME 11P155
    Michael Higgins; Fiscal Year: 2000
  10. Role of regulatory sequence at the H19 imprinting control region
    Folami Ideraabdullah; Fiscal Year: 2009

Detail Information

Publications244 found, 100 shown here

  1. pmc Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15
    S Matsuoka
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 93:3026-30. 1996
    ..The gene encoding cyclin-dependent kinase inhibitor p57KIP2, whose overexpression causes G1 phase arrest, was recently cloned and mapped to this band...
  2. ncbi Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
    Angela Sparago
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 16:254-64. 2007
    ..abolishing some of the CTCF target sites (CTSs) of IC1 have been associated with the Beckwith-Wiedemann syndrome (BWS). However, the link between these mutations and the molecular and clinical phenotypes was debated...
  3. pmc Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1802, USA
    J Clin Endocrinol Metab 94:1826-34. 2009
    ..However, the prevalence of identifiable germline MEN1 mutations in familial MEN1 cases is only 70%. Some cases may have a germline mutation in another gene such as the p27 cyclin-dependent kinase inhibitor (CDKI)...
  4. pmc Akt and ERK control the proliferative response of mammary epithelial cells to the growth factors IGF-1 and EGF through the cell cycle inhibitor p57Kip2
    Devin T Worster
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Sci Signal 5:ra19. 2012
    ..We found that the abundance of the cyclin-dependent kinase inhibitors p21Cip1 and p57Kip2 increased in response to IGF-1 or insulin but decreased in response to EGF...
  5. ncbi p57Kip2 regulates actin dynamics by binding and translocating LIM-kinase 1 to the nucleus
    Tomotaka Yokoo
    Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba, 1 1 1 Tennodai, Tsukuba, Ibaraki 305 8575, Japan
    J Biol Chem 278:52919-23. 2003
    b>p57Kip2 is the only cyclin-dependent kinase (Cdk) inhibitor shown to be essential for mouse embryogenesis. The fact suggests that p57 has a specific role that cannot be compensated by other Cdk inhibitors...
  6. ncbi Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution
    M H Lee
    Cell Biology and Genetics Program, Howard Hughes Medical Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Genes Dev 9:639-49. 1995
    ..We have isolated a new member of the p21CIP1/p27KIP1 CDI family and named it p57KIP2 to denote its apparent molecular mass and higher similarity to p27KIP1...
  7. ncbi p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene
    S Matsuoka
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030 USA
    Genes Dev 9:650-62. 1995
    ..We describe a new CKI, p57KIP2, which is related to p21CIP1 and p27KIP1...
  8. ncbi Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis
    T Tokino
    Laboratory of Molecular Medicine, The Institute of Medical Science, The University of Tokyo, Japan
    Hum Genet 97:625-31. 1996
    We have isolated human cDNA and genomic clones of a gene termed p57KIP2, which is related to the p2I WAFI and p27 KIP1 genes that encode inducible inhibitors of cyclin-dependent kinase activity...
  9. ncbi An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome
    I Hatada
    National Cardiovascular Center Research Institute, Osaka, Japan
    Nat Genet 14:171-3. 1996
    b>p57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation. The gene encoding p57KIP2 is located at 11p15.5 (ref...
  10. pmc Suppression of cell transformation by the cyclin-dependent kinase inhibitor p57KIP2 requires binding to proliferating cell nuclear antigen
    H Watanabe
    Department of Biochemistry and Biophysics, Lineberger Comprehensive Cancer Center, and Program in Molecular Biology and Biotechnology, University of North Carolina, Chapel Hill, NC 27599 3280, USA
    Proc Natl Acad Sci U S A 95:1392-7. 1998
    ..The p21 family currently includes three distinct genes, p21, p27(Kip1), and p57(Kip2), that share a common N-terminal domain for binding to and inhibiting the kinase activity of CDK-cyclin complexes...
  11. pmc Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
    W W Lam
    Department of Paediatrics and Child Health, University of Birmingham, UK
    J Med Genet 36:518-23. 1999
    ..Recently germline mutations in the cyclin dependent kinase inhibitor gene CDKN1C (p57KIP2) have been reported in a variable minority of BWS patients...
  12. pmc Induction of p57(KIP2) expression by p73beta
    Eva Balint
    Regulation of Cell Growth Laboratory, Cancer and Developmental Biology Laboratory, National Cancer Institute, Frederick, MD 21702 1201, USA
    Proc Natl Acad Sci U S A 99:3529-34. 2002
    ..we describe the ability of p73beta but not p53 to activate expression of the cyclin-dependent kinase inhibitor p57(KIP) and KvLQT1, two genes that are coregulated in an imprinted region of the genome...
  13. ncbi Aberrant DNA methylation of p57KIP2 identifies a cell-cycle regulatory pathway with prognostic impact in adult acute lymphocytic leukemia
    Lanlan Shen
    Department of Leukemia, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Blood 101:4131-6. 2003
    b>P57KIP2 is a cyclin-dependent kinase inhibitor silenced in a variety of human malignancies. DNA methylation of a region surrounding the transcription start site of p57KIP2 was found in acute lymphocytic leukemia (ALL)-derived cell lines...
  14. pmc Degradation of p57Kip2 mediated by SCFSkp2-dependent ubiquitylation
    Takumi Kamura
    Department of Molecular and Cellular Biology, Medical Institute of Bioregulation, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka, Fukuoka 812 8582, Japan
    Proc Natl Acad Sci U S A 100:10231-6. 2003
    The abundance of the cyclin-dependent kinase (CDK) inhibitor p57Kip2, an important regulator of cell cycle progression, is thought to be controlled by the ubiquitin-proteasome pathway...
  15. ncbi p57KIP2 modulates stress-activated signaling by inhibiting c-Jun NH2-terminal kinase/stress-activated protein Kinase
    Tong Shin Chang
    National Creative Research Initiative Center for Cell Death, School of Life Sciences and Biotechnology, Korea University, Seoul 136 701, Korea
    J Biol Chem 278:48092-8. 2003
    b>p57KIP2, a member of the Cip/Kip family of enzymes that inhibit several cyclin-dependent kinases, plays a role in many biological events including cell proliferation, differentiation, apoptosis, tumorigenesis and developmental changes...
  16. ncbi Loss of p57KIP2 is associated with colorectal carcinogenesis
    Jia Qing Li
    Department of Pathology and Host Defense, Kagawa Medical University, Kagawa 761 0793, Japan
    Int J Oncol 23:1537-43. 2003
    The expression and significance of p57KIP2, an important inhibitor of the cell cycle, remain unclear during carcinogenesis and during late metastasis to lymph nodes of tumors...
  17. pmc Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome
    N Diaz-Meyer
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    J Med Genet 40:797-801. 2003
    Beckwith-Wiedemann syndrome (BWS) arises by several genetic and epigenetic mechanisms affecting the balance of imprinted gene expression in chromosome 11p15.5...
  18. ncbi Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer
    Hidenobu Soejima
    Department of Biomolecular Sciences, Division of Molecular Biology and Genetics, Saga Medical School, 5 1 1 Nabeshima, Saga 849 8501 Japan
    Oncogene 23:4380-8. 2004
    ....
  19. ncbi Aberrant methylation of p57KIP2 gene in lung and breast cancers and malignant mesotheliomas
    Takaya Kobatake
    Department of Cancer and Thoracic Surgery, Graduate School of Medicine and Dentistry, Okayama University, 2 5 1 Shikata cho, Okayama 700 8558, Japan
    Oncol Rep 12:1087-92. 2004
    The p57KIP2 gene belongs to the Cip/Kip family of CDK inhibitors and has been demonstrated to be a tumor suppressor gene, being inactivated in various types of human cancers...
  20. pmc ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome
    Takahiro Arima
    Department of Reproductive Physiology and Endocrinology, Medical Institute of Bioregulation, Kyusyu University 4546, Tsurumihara, Beppu, Oita 874 0838, Japan
    Nucleic Acids Res 33:2650-60. 2005
    ..Mutations in ZAC and p57KIP2 have been implicated in transient neonatal diabetes mellitus (TNDB) and Beckwith-Wiedemann syndrome, respectively...
  21. ncbi The cell cycle inhibitor p57(Kip2) promotes cell death via the mitochondrial apoptotic pathway
    P Vlachos
    Karolinska Institutet, Institute of Environmental Medicine, 171 77 Stockholm, Sweden
    Cell Death Differ 14:1497-507. 2007
    The p57(Kip2) gene belongs to the Cip/Kip family of cyclin-dependent kinase (CDK) inhibitors and has been suggested to be a tumor suppressor gene, being inactivated in various types of human cancers...
  22. pmc CDKN1C/p57kip2 is a candidate tumor suppressor gene in human breast cancer
    Pamela S Larson
    Department of Pathology and Laboratory Medicine, Boston University Medical Center, Boston, MA, USA
    BMC Cancer 8:68. 2008
    CDKN1C (also known as p57KIP2) is a cyclin-dependent kinase inhibitor previously implicated in several types of human cancer...
  23. doi MiR-221 controls CDKN1C/p57 and CDKN1B/p27 expression in human hepatocellular carcinoma
    F Fornari
    1Dipartimento di Medicina Interna e Gastroenterologia e Centro di Ricerca Biomedica Applicata, Universita di Bologna, Policlinico S Orsola, Bologna, Italy
    Oncogene 27:5651-61. 2008
    ..Here, we proved that the cyclin-dependent kinase inhibitor (CDKI) CDKN1C/p57 is also a direct target of miR-221...
  24. pmc A new ubiquitin ligase involved in p57KIP2 proteolysis regulates osteoblast cell differentiation
    Minsoo Kim
    Laboratory of Frontier Science, Core Technology and Research Center, Tokyo Metropolitan Institute of Medical Science, 3 18 22 Honkomagome, Bunkyo ku, Tokyo 113 8613, Japan
    EMBO Rep 9:878-84. 2008
    ..Previously, we reported that TGF-beta1 stimulation induces the degradation of p57(KIP2) in osteoblasts...
  25. ncbi Significance of p57(Kip2) down-regulation in oncogenesis of bladder carcinoma: an immunohistochemical study
    Onder Bozdogan
    Pathology Department, Kirikkale University Medical School, Kirikkale, Turkey
    Tumori 94:556-62. 2008
    ..The aim of this study was to establish the importance of p57(Kip2), a unique cyclin-dependent kinase inhibitor, in the oncogenesis of bladder carcinoma...
  26. pmc CDKN1C (p57) is a direct target of EZH2 and suppressed by multiple epigenetic mechanisms in breast cancer cells
    Xiaojing Yang
    Cancer Biology and Pharmacology, Genome Institute of Singapore, A STAR Agency for Science, Technology and Research, Biopolis, Singapore
    PLoS ONE 4:e5011. 2009
    CDKN1C (encoding tumor suppressor p57(KIP2)) is a cyclin-dependent kinase (CDK) inhibitor whose family members are often transcriptionally downregulated in human cancer via promoter DNA methylation...
  27. doi MicroRNA 92b controls the G1/S checkpoint gene p57 in human embryonic stem cells
    Srikumar Sengupta
    Morgridge Institute for Research, Madison, Wisconsin, USA
    Stem Cells 27:1524-8. 2009
    ..b>p57, a gene whose product inhibits G(1) to S-phase progression, is one of the predicted targets of miR-92b...
  28. doi p57Kip2 is a repressor of Mash1 activity and neuronal differentiation in neural stem cells
    B Joseph
    Department of Oncology Pathology, Cancer Centrum Karolinska, Karolinska Institutet, Stockholm SE17177, Sweden
    Cell Death Differ 16:1256-65. 2009
    ..Here, we show that the cyclin-dependent kinase (CDK) inhibitor p57Kip2 interacted with pro-neuronal basic helix-loop-helix (bHLH) factors such as Mash1, NeuroD, and Nex/Math2...
  29. doi Aberrant DNA methylation of the p57KIP2 gene is a sensitive biomarker for detecting minimal residual disease in diffuse large B cell lymphoma
    Kazumi Hagiwara
    Clinical Research Centre, National Hospital Organization, Nagoya Medical Center, Naka ku, Nagoya, Japan
    Leuk Res 34:50-4. 2010
    ..To resolve these problems, we applied a tumor-specific epigenetic alteration of the p57KIP2 gene as a biomarker for detecting MRD in DLBCL...
  30. doi The Cdk inhibitor p57(Kip2) controls LIM-kinase 1 activity and regulates actin cytoskeleton dynamics
    P Vlachos
    Department of Oncology Pathology, Cancer Centrum Karolinska, Karolinska Institute, Stockholm, Sweden
    Oncogene 28:4175-88. 2009
    The cyclin-dependent kinase inhibitor p57(Kip2) gene has been suggested to be a tumor suppressor gene, being inactivated in various cancer types, linked to tumor progression and poor patient outcome...
  31. doi CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms
    Valeria Romanelli
    INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain
    Am J Med Genet A 152:1390-7. 2010
    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in most patients by alterations in growth regulatory genes...
  32. doi p57(Kip2) and cancer: time for a critical appraisal
    Adriana Borriello
    Department of Biochemistry and Biophysics, Second University of Naples, Naples, Italy
    Mol Cancer Res 9:1269-84. 2011
    p57(Kip2) is a cyclin-dependent kinase inhibitor belonging to the Cip/Kip family, which also includes p21(Cip1) and p27(Kip1)...
  33. doi Downregulation of p57 accelerates the growth and invasion of hepatocellular carcinoma
    Hui Guo
    Department of Oncology, First Affiliated Hospital, College of Medicine of Xi an Jiaotong University, Xi an 710061, Shaanxi Province, People s Republic of China
    Carcinogenesis 32:1897-904. 2011
    b>p57 is a multifunctional protein involved in the regulation of tumor formation and development; however, the biological role of p57 in the pathogenesis of hepatocellular carcinoma (HCC) is poorly understood...
  34. ncbi [MicroRNA-221 promotes colon carcinoma cell proliferation in vitro by inhibiting CDKN1C/p57 expression]
    Kai Sun
    Department of General Surgery, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China
    Nan Fang Yi Ke Da Xue Xue Bao 31:1885-9. 2011
    To investigate the regulatory effect of microRNA-221 (MIR221) on CDKN1C/p57 expression in colon carcinoma cells in vitro.
  35. pmc Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    Valerie A Arboleda
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA
    Nat Genet 44:788-92. 2012
    ..and validation by dideoxy sequencing, identified missense mutations in the imprinted gene CDKN1C (also known as P57KIP2) in two familial and four unrelated patients...
  36. ncbi The cell cycle-regulated B-Myb transcription factor overcomes cyclin-dependent kinase inhibitory activity of p57(KIP2) by interacting with its cyclin-binding domain
    Manel Joaquin
    Ludwig Institute for Cancer Research and Department of Virology, Faculty of Medicine, Imperial College London, Norfolk Place, London W2 1PG, United Kingdom
    J Biol Chem 278:44255-64. 2003
    ..No in vivo interaction was found with either p21(Waf1/Cip1) or p27(KIP1), however, binding to p57(KIP2) was readily detectable in both in vivo and in vitro assays...
  37. pmc p57(Kip2) cooperates with Nurr1 in developing dopamine cells
    Bertrand Joseph
    The Ludwig Institute for Cancer Research, Box 240, S 171 77 Stockholm, Sweden
    Proc Natl Acad Sci U S A 100:15619-24. 2003
    ..Here we show that p57Kip2 is expressed in postmitotic differentiating midbrain dopamine cells...
  38. ncbi Absence of p21(CIP 1), p27(KIP 1) and p 57(KIP 2) methylation in MDS and AML
    Kai Brakensiek
    Institute of Pathology, Medizinische Hochschule Hannover, Carl Neuberg Str 1, D 30625 Hannover, Germany
    Leuk Res 29:1357-60. 2005
    ..p 57(KIP 2) hypermethylation was found in 4/9 cell lines, but methylation of p21(CIP 1) and p27(KIP 1) was infrequent. All patient samples analysed were methylation-negative for these three genes...
  39. ncbi A role of p73 in mitotic exit
    Paola Merlo
    Laboratory of Gene Expression, Fondazione Andrea Cesalpino, 00161 Rome Italy
    J Biol Chem 280:30354-60. 2005
    ..We also found that the cyclin-dependent kinase inhibitor Kip2/p57 gene is a specific target of p73 regulation during mitotic exit and re-entry into G1...
  40. ncbi Differential tumor suppressor properties and transforming growth factor-beta responsiveness of p57KIP2 in leukemia cells with aberrant p57KIP2 promoter DNA methylation
    S Q Kuang
    Departments of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
    Oncogene 26:1439-48. 2007
    To investigate if the tumor suppressor properties of p57KIP2 are dependent on its DNA methylation status, we studied the impact of several stress stimuli in leukemic cell lines with different p57KIP2 promoter DNA methylation levels...
  41. ncbi Inactivation of p57KIP2 by regional promoter hypermethylation and histone deacetylation in human tumors
    Takefumi Kikuchi
    First Department of Internal Medicine, Sapporo Medical University, Sapporo 060 8543, Japan
    Oncogene 21:2741-9. 2002
    To clarify the role of DNA methylation in the silencing of the expression of cyclin-dependent kinase inhibitor p57KIP2 seen in certain tumors, we investigated the methylation status of its 5' CpG island in various tumor cell lines and ..
  42. ncbi Aberrant DNA methylation of p57(KIP2) gene in the promoter region in lymphoid malignancies of B-cell phenotype
    Yinghua Li
    First Department of Internal Medicine, and the First Department of Pathology, Nagoya University School of Medicine, Nagoya, Japan
    Blood 100:2572-7. 2002
    The cyclin-dependent kinase inhibitor p57(KIP2) is thought to be a potential tumor suppressor gene (TSG). The present study examines this possibility...
  43. ncbi Expression of cyclin-dependent kinase inhibitors during corneal wound repair
    J D Zieske
    Schepens Eye Research Institute and the Department of Ophthalmology, Harvard Medical School, Boston, MA 02114, USA
    Prog Retin Eye Res 19:257-70. 2000
    ..Two families of cyclin-dependent kinase inhibitors have been identified. The CIP/KIP family includes p21, p27, and p57, while the INK4 family consists of p16. p15. p18. and pI9...
  44. doi Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith-Wiedemann syndrome
    K M Van Lierde
    Department of Otorhinolaryngology, Head and Neck Surgery and Speech Language Pathology, University Hospital, 2P1 De Pintelaan 185, 9000 Gent, Belgium
    Int J Pediatr Otorhinolaryngol 74:309-18. 2010
    ..on overall speech intelligibility and articulation in a Dutch-speaking child with Beckwith-Wiedemann syndrome (BWS)...
  45. ncbi The role of fluorine-18-deoxyglucose (FDG) positron emission tomography (PET) whole body scan (WBS) in the staging and follow-up of cancer patients: our first experience
    G Ferlin
    PET Center, Nuclear Medicine Department, Hospital of Castelfranco Veneto, Italy
    Tumori 83:679-84. 1997
    ..Moreover, by providing complete information on tumor spread in some cases, PET can become a profitable tool in terms of cost reduction...
  46. ncbi A survey of assisted reproductive technology births and imprinting disorders
    Sarah Bowdin
    Clinical Genetics Unit, Birmingham Women s Hospital, Edgbaston, Birmingham, UK
    Hum Reprod 22:3237-40. 2007
    ..centres are associated with imprinting disorders such as Angelman syndrome (AS) and Beckwith-Wiedemann syndrome (BWS)...
  47. ncbi Is it safer to intubate premature infants in the delivery room?
    Hany Aly
    Department of Newborn Services, George Washington University Hospital, Washington, DC 20037, USA
    Pediatrics 115:1660-5. 2005
    ..We also explored potential harmful effects of early intubation and examined whether unsuccessful ENCPAP attempts might subject infants to any unforeseen morbidity...
  48. pmc Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome
    Zhi Xing Yao
    Department of Gastroenterology, MD Anderson Cancer Center, Houston, Texas 77030, USA
    J Biol Chem 285:36112-20. 2010
    ..Beckwith-Wiedemann syndrome (BWS) is a hereditary human cancer stem cell syndrome currently linked to deregulated imprinting at chromosome 11p15 and ..
  49. pmc Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
    M P Lee
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 96:5203-8. 1999
    ..We propose that 11p15 harbors two imprinted gene domains-a more centromeric domain including KVLQT1 and p57(KIP2), alterations in which are more common in BWS, and a more telomeric domain including IGF2, alterations in which are ..
  50. ncbi Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of nature
    L A Réthy
    Independent Research Group for Genetics and Immunology, Budapest, Hungary
    Pathol Oncol Res 6:298-300. 2000
    ..The association of a decreased ASM activity and an overgrowth disorder, Beckwith-Wiedemann Syndrome (BWS) with hemihypertrophy has been described at a 23 months old boy in a recent case report (Réthy et al, in this ..
  51. ncbi [Determination of expression of eight p53-related genes in hepatocellular carcinoma with tissue microarrays]
    Ming Hua Zhu
    Department of Pathology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, PR China
    Ai Zheng 22:680-5. 2003
    ....
  52. ncbi Radioiodine treatment with 30 mCi after recombinant human thyrotropin stimulation in thyroid cancer: effectiveness for postsurgical remnants ablation and possible role of iodine content in L-thyroxine in the outcome of ablation
    Daniele Barbaro
    Sezione Endocrinologia, Diabetologia e Malattie Metaboliche, Spedali Riuniti, Azienda Sanitaria Locale 6, 57100 Livorno, Italy
    J Clin Endocrinol Metab 88:4110-5. 2003
    ..thyroid cancer are thyroidectomy, treatment with iodine-131 ((131)I), and follow-up with whole-body scanning (WBS) and serum thyroglobulin (Tg) determination...
  53. doi Epigenetics, genomic imprinting and assisted reproductive technology
    Y Le Bouc
    Explorations Fonctionnelles Endocriniennes, Hopital d Enfants Armand Trousseau, AP HP, 75571 Paris, France
    Ann Endocrinol (Paris) 71:237-8. 2010
    ..For example, two fetal growth disorders, the Beckwith-Wiedemann (BWS) and the Silver-Russell (SRS) syndromes with opposite phenotypes, are caused by abnormal DNA methylation at the ..
  54. ncbi Evaluation of calving seasons and marketing strategies in Northern Great Plains beef enterprises. II. Retained ownership systems
    V L Reisenauer Leesburg
    Department of Animal and Range Sciences, Montana State University, Bozeman 59717, USA
    J Anim Sci 85:2322-9. 2007
    ..heifer calves were as follows: sold after weaning (WS), backgrounded in Montana and sold as feeder cattle (WBS), backgrounded in Montana and then fed to slaughter BW in Nebraska (WBFS), and shipped to Nebraska at weaning and ..
  55. ncbi "Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome
    L G Best
    Department of Family Practice, University of North Dakota, Grand Forks, North Dakota, USA
    Fetal Pediatr Pathol 25:9-20. 2006
    The Wiedemann-Beckwith syndrome (WBS) was first described in 1963 as a group of anomalies involving primarily macrosomia, macroglossia, and omphalocele...
  56. pmc Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
    Valeria Romanelli
    INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain
    Eur J Hum Genet 19:416-21. 2011
    Beckwith-Wiedemann syndrome (BWS) is a phenotypically and genotypically heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia and abdominal wall defects...
  57. pmc Imprinting disorders and assisted reproductive technology
    Somjate Manipalviratn
    Reproductive Biology and Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Fertil Steril 91:305-15. 2009
    To review currently available literature on the association between imprinting disorders (Beckwith-Wiedemann syndrome [BWS], Angelman syndrome [AS] and retinoblastoma) and assisted reproductive technology (ART) in humans.
  58. pmc Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster
    T Caspary
    Howard Hughes Medical Institute, Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544, USA
    Mol Cell Biol 18:3466-74. 1998
    ..end of mouse chromosome 7 that contains a cluster of four maternally expressed genes, H19, Mash2, Kvlqt1, and p57(Kip2), as well as two paternally expressed genes, Igf2 and Ins2, and assess the expression and imprinting of Mash2, ..
  59. ncbi Cell-cycle regulatory proteins in podocyte cell in idiopathic nephrotic syndrome of childhood
    Tarak Srivastava
    Section of Nephrology and Department of Pathology, The Children s Mercy Hospital, University of Missouri at Kansas City, 64108, USA
    Kidney Int 63:1374-81. 2003
    ..collapsing focal segmental glomerulosclerosis (FSGS), the expression of cell-cycle regulatory proteins such as p27, p57, and cyclin D is decreased and expression of cyclin A, Ki-67, and p21 is observed in podocyte cells suggestive of a ..
  60. ncbi Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
    P Rump
    Department of Clinical Genetics, Academic Hospital Groningen, Groningen, The Netherlands
    Am J Med Genet A 136:95-104. 2005
    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macroglossia, abdominal wall defects, ear anomalies, and an increased risk for embryonic tumors. Reported tumor risk estimates vary between 4% and 21%...
  61. pmc Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
    Jet Bliek
    Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
    Eur J Hum Genet 17:1625-34. 2009
    The Beckwith-Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and for females...
  62. ncbi Recombinant thyroid-stimulating hormone in differentiated thyroid cancer
    Y Krausz
    Department of Medical Biophysics and Nuclear Medicine, Hadassah University Hospital, Jerusalem, Israel
    Isr Med Assoc J 3:843-9. 2001
    ..The sensitivity and image quality of the WBS are similar after rTSH and after THSH withdrawal in the majority of patients...
  63. ncbi Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
    Rosanna Weksberg
    Division of Clinical and Metabolic Genetics and the Research Institute, Department of Paediatrics Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mol Genet 11:1317-25. 2002
    Beckwith-Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor predisposition and other congenital abnormalities, and is usually associated with abnormalities of chromosome 11p15...
  64. ncbi Consumer thresholds for establishing the value of beef tenderness
    M F Miller
    Animal Science and Food Technology Department, Texas Tech University, Lubbock 79409 2162, USA
    J Anim Sci 79:3062-8. 2001
    ..evaluation was conducted for beef tenderness on USDA Select strip loin steaks of known Warner-Bratzler shear (WBS) force values, ranging from tough (> 5.7 kg) to tender (< 3...
  65. ncbi Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
    Adam C Smith
    Institute of Medical Science, University of Toronto, Toronto, Canada
    Am J Med Genet A 143:3010-5. 2007
    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk...
  66. doi Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting
    Tomasz K Wojdacz
    Institute of Human Genetics, University of Aarhus, Aarhus, Denmark
    Hum Mutat 29:1255-60. 2008
    Beckwith Wiedemann syndrome (BWS) and Russell Silver syndrome (RS) are growth disorders with opposing epimutations affecting the H19/IGF2 imprinting center at 11p15.5...
  67. ncbi Use of surgical gamma probe for the detection of lymph node metastases in differentiated thyroid cancer
    F Lippi
    Dipartimento di Endocrinologia e Metabolismo, Pisa, Italy
    Tumori 86:367-9. 2000
    ..withdrawal of L-thyroxine suppressive therapy six patients were given high 131I doses followed by post-therapy WBS which demonstrated cervical activity in 5 patients and peri-jugular activity in 1...
  68. ncbi A quantitative analysis of the nerve fibers in the VIIIth nerve of Belgian Waterslager canaries with a hereditary sensorineural hearing loss
    O Gleich
    ENT Department, University of Regensburg, Germany
    Hear Res 151:141-148. 2001
    The number of auditory nerve fibers was determined for non-Belgian Waterslager canaries (non-BWS) and Belgian Waterslager canaries (BWS) that are affected by a sensorineural high frequency hearing loss and a 30% reduction in the number ..
  69. doi Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
    Derek Lim
    Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham B15 2TT, UK
    Hum Reprod 24:741-7. 2009
    Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events affecting imprinted genes at 11p15.5...
  70. ncbi Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels
    K Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
    J Clin Endocrinol Metab 90:4376-82. 2005
    Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is clinically and genetically heterogeneous...
  71. doi A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, Roma 00168, Italy
    J Med Genet 47:429-32. 2010
    BACKGROUND Beckwith-Wiedemann syndrome (BWS) is a clinically variable and genetically heterogeneous disorder, providing evidence that imprinted genes play key roles in the control of fetal growth...
  72. pmc Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome
    T Caspary
    Howard Hughes Medical Institute, Princeton University, Princeton, New Jersey 08544, USA
    Genes Dev 13:3115-24. 1999
    ..5. A subset of BWS patients has been identified with loss-of-function mutations in p57(KIP2), a maternally expressed gene encoding a G(1) cyclin-dependent kinase inhibitor...
  73. ncbi Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
    R Weksberg
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    Hum Mol Genet 10:2989-3000. 2001
    Dysregulation of imprinted genes on human chromosome 11p15 has been implicated in Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome associated with congenital malformations and tumor predisposition...
  74. pmc Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, Saint Louis, USA
    Am J Hum Genet 70:604-11. 2002
    Beckwith-Wiedemann syndrome (BWS) is a congenital cancer-predisposition syndrome associated with embryonal cancers, macroglossia, macrosomia, ear pits or ear creases, and midline abdominal-wall defects...
  75. pmc Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome
    Zsolt Urban
    Pacific Biomedical Research Center, University of Hawaii, Honolulu, USA
    Am J Hum Genet 71:30-44. 2002
    ..four patients with isolated supravalvular aortic stenosis (SVAS), and five patients with Williams-Beuren syndrome (WBS). Mutations were determined in each patient with SVAS and in each patient with WBS...
  76. pmc Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome
    F R Grati
    Unita di Citogenetica e Biologia Molecolare, Laboratorio TOMA, Busto Arsizio, Varese, Italy
    J Med Genet 44:257-63. 2007
    The phenotypic variability in Beckwith-Wiedemann syndrome (BWS) reflects the genetic heterogeneity of the mechanism which by default leads to the deregulation of genes located at 11p15.5...
  77. ncbi Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency
    Frederic Lirussi
    Service de Biochime et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Am J Med Genet A 143:2796-803. 2007
    Beckwith-Wiedemann syndrome (BWS) is an overgrowth condition with tumor proclivity linked to a genetic imbalance of a complex imprinted region in 11p15.5...
  78. doi Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders
    Julie Demars
    Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, 3004 VIC, Australia
    Hum Mol Genet 19:803-14. 2010
    ..phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of ..
  79. doi Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndrome
    Noboru Hori
    Ishikawa Prefectural Livestock Research Center, Hodatsushimizu, Ishikawa 929 1325, Japan
    Anim Reprod Sci 122:303-12. 2010
    ..Interestingly, these phenotypes are reminiscent of Beckwith-Wiedemann syndrome (BWS) in humans, which is an imprinting disorder characterized by pre- and/or postnatal overgrowth...
  80. pmc Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome
    Raffaella Nativio
    Department of Oncology, Cancer Research UK Cambridge Research Institute, University of Cambridge, LiKaShing Centre, Cambridge, UK
    Hum Mol Genet 20:1363-74. 2011
    ..in reciprocal changes in IGF2-H19 expression and the two contrasting growth disorders, Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS)...
  81. ncbi Comparative transcript profiles of cell cycle-related genes in mouse primordial germ cells, embryonic stem cells and embryonic germ cells
    Eleonora Sorrentino
    Department of Public Health and Cell Biology, University of Rome Tor Vergata, Rome, Italy
    Gene Expr Patterns 7:714-21. 2007
    ..Among 38 genes of the G1 phase analysed, Ccnd3 (CyclinD3), Cdkn1c (p57(kip2)), Rb1, and Tceb1l (Skip1-like) were expressed at significantly higher levels in PGCs than in EG and ES cells; ..
  82. doi Soleus H-reflex modulation during body weight support treadmill walking in spinal cord intact and injured subjects
    Maria Knikou
    Health Science Doctoral Programs, The Graduate Center, City University of New York, Staten Island, NY 10314, USA
    Exp Brain Res 193:397-407. 2009
    ..investigated in ten spinal cord intact subjects during treadmill walking at varying levels of body weight support (BWS), and nine spinal cord injured (SCI) subjects at a BWS level that promoted the best stepping pattern...
  83. doi Isolated fetal omphalocele, Beckwith-Wiedemann syndrome, and assisted reproductive technologies
    Louise Wilkins-Haug
    Department of Obstetrics, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    Birth Defects Res A Clin Mol Teratol 85:58-62. 2009
    To assess the frequency of Beckwith-Wiedemann syndrome (BWS) among fetuses with an ultrasound diagnosis of isolated omphalocele and to examine relevant clinical variables, in particular route of conception.
  84. pmc IgA antibodies of coeliac disease patients recognise a dominant T cell epitope of A-gliadin
    E A L Bateman
    Department of Clinical Immunology, Churchill Hospital, Oxford Radcliffe Hospitals, Oxford OX3 7LJ, UK
    Gut 53:1274-8. 2004
    ..the dominant DQ2-Alpha-I-gliadin peptide recognised by CD4 T cells is contained within peptide sequence 57-73 (p57-73) of Alpha-gliadin...
  85. ncbi Location of cell cycle regulators cyclin B1, cyclin A, PCNA, Ki67 and cell cycle inhibitors p21, p27 and p57 in human first trimester placenta and deciduas
    Emin Turkay Korgun
    Department of Histology and Embryology, Medical Faculty, Akdeniz University, 07070, Antalya, Turkey
    Histochem Cell Biol 125:615-24. 2006
    ..The cell cycle promotors cyclin A, cyclin B1, PCNA, Ki67 and the cell cycle inhibitors p21, p27 and p57 were immunolocalized in tissue sections of first trimester pregnancies (weeks 6 and 9-12)...
  86. doi Hydatidiform moles: ancillary techniques to refine diagnosis
    Brigitte M Ronnett
    Department of Pathology, The Johns Hopkins University School of Medicine and Hospital, Baltimore, Maryland, USA
    Int J Gynecol Pathol 30:101-16. 2011
    ..specimens (biparental diploidy) allow for certain molecular techniques, including immunohistochemical analysis of p57 expression (a paternally imprinted maternally expressed gene) and molecular genotyping, to refine the diagnosis of ..
  87. ncbi p57(KIP2) immunohistochemical staining of gestational trophoblastic tumours does not identify the type of the causative pregnancy
    N J Sebire
    Department of Histopathology, Charing Cross Hospital, London, UK
    Histopathology 45:135-41. 2004
    To determine whether immunohistochemical staining for p57(KIP2), the product of the maternally expressed gene CDKN1C, can be used to differentiate between gestational trophoblastic tumours arising from a complete hydatidiform mole and ..
  88. ncbi Exclusion of actin-binding protein p57/coronin-1 from bacteria-containing phagosomes in macrophages infected with Legionella
    Tsuyoshi Hayashi
    Laboratory of Microbiology and Immunology and the Global COE Program, University of Shizuoka School of Pharmaceutical Sciences, 52 1 Yada, Suruga ku, Shizuoka, Shizuoka 422 8526, Japan
    Biol Pharm Bull 31:861-5. 2008
    ..Here we analyzed the role of an actin-binding protein, p57/coronin-1, a member of the coronin protein family, during Legionella infection...
  89. pmc Phorbol ester-dependent phosphorylation regulates the association of p57/coronin-1 with the actin cytoskeleton
    Teruaki Oku
    Department of Microbiology, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Tokyo 142 8501, Japan
    J Biol Chem 283:28918-25. 2008
    The p57/coronin-1 protein is a member of the coronin family of actin-binding proteins, which are characterized by the presence of WD (tryptophan/aspartic acid) repeats and a coiled-coil motif in the molecule...
  90. ncbi Periodontal conditions in Williams Beuren syndrome: a series of 8 cases
    C Joseph
    Dept Dentistry, Albert Chenevier Henri Mondor Hospital, Paris 5 René Descartes, University, France
    Eur Arch Paediatr Dent 9:142-7. 2008
    Williams Beuren syndrome (WBS) is an unusual hereditary connective tissue disease caused by a microdeletion at position 7q11-23 and a haploinsufficiency at the elastin gene...
  91. pmc Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities
    Craig J Goergen
    Department of Bioengineering, Stanford University School of Medicine, Stanford, Calif, USA
    J Vasc Res 48:119-29. 2011
    The Williams-Beuren syndrome (WBS) is a genetic disorder caused by a heterozygous ~1.5-Mb deletion...
  92. pmc Cell type-specific proteins which interact with the 5' nontranslated region of hepatitis A virus RNA
    K H Chang
    Department of Medicine, University of North Carolina at Chapel Hill 27599 7030
    J Virol 67:6716-25. 1993
    ..Four major proteins (p30, p39, p57, and p110) were identified...
  93. doi An in-vivo study of the wound-bursting strengths of octyl-cyanoacrylate, butyl-cyanoacrylate, and surgical tape in rats
    Breena R Taira
    Department of Emergency Medicine, Stony Brook University Medical Center, Stony Brook, New York 11794 8350, USA
    J Emerg Med 38:546-51. 2010
    ..Several non-invasive wound-closure devices are available. Clinical studies of low-tension lacerations suggest similar clinical outcomes with these devices...
  94. pmc Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism
    Stephen J Palmer
    Department of Anatomy, School of Medical Sciences, The University of New South Wales, Sydney 2052, Australia
    J Biol Chem 285:4715-24. 2010
    The GTF2IRD1 gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1...
  95. pmc Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome
    V Grandjean
    University of Cambridge, Department of Anatomy, Downing Street, CB2 3DY Cambridge, United Kingdom
    Proc Natl Acad Sci U S A 97:5279-84. 2000
    ..Human and mouse genetic data strongly implicate another gene, CDKN1C (p57(kip2)), located in the same imprinted gene cluster on human chromosome II, in BWS...
  96. ncbi Analysis of CDKN1C in Beckwith Wiedemann syndrome
    E Algar
    Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
    Hum Mutat 15:497-508. 2000
    In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS...
  97. ncbi Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome
    R M John
    Wellcome CRC Institute of Cancer and Developmental Biology, Tennis Court Road, Cambridge CB2 1QR, UK
    Hum Mol Genet 10:1601-9. 2001
    ..Only two of these genes, p57(KIP2) (CDKN1C) and IGF2, are likely to be functionally involved in this disease...
  98. doi Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour
    Flavia Cerrato
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 17:1427-35. 2008
    ..of IC1 have been found in patients affected by the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome (BWS)...
  99. pmc Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield
    Jochen K Lennerz
    Department of Pathology, Massachusetts General Hospital Harvard Medical School, Boston, Massachusetts, USA
    J Mol Diagn 12:576-88. 2010
    Beckwith-Wiedemann syndrome (BWS) is a clinical diagnosis; however, molecular confirmation via abnormal methylation of DMR2(LIT1) and/or DMR1(H19) has clinical utility due to epigenotype-tumor association...
  100. doi Valuing Child Health Utility 9D health states with a young adolescent sample: a feasibility study to compare best-worst scaling discrete-choice experiment, standard gamble and time trade-off methods
    Julie Ratcliffe
    Centre for Clinical Change, Flinders University, Adelaide, South Australia, Australia
    Appl Health Econ Health Policy 9:15-27. 2011
    ..The first objective of this study was to assess the feasibility of applying best-worst scaling (BWS) discrete-choice experiment (DCE) methods in a young adolescent sample to value health states defined by the Child ..
  101. ncbi A human p57(KIP2) transgene is not activated by passage through the maternal mouse germline
    R M John
    Wellcome CRC Institute of Cancer and Developmental Biology, Tennis Court Road, Cambridge CB2 1QR, UK
    Hum Mol Genet 8:2211-9. 1999
    ..11p15, and the syntenic region on mouse distal chromosome 7, contain several imprinted genes, including p57 (KIP2) ( CDKN1C ) and IGF2...

Research Grants70

  1. Role of TFII-I in signal transduction by growth factors
    BRENT COCHRAN; Fiscal Year: 2004
    ..Hemizygousity for TFII-I is closely linked to the neurodevelopmental disorder Williams-Beuren syndrome (WBS) in humans...
  2. Function of Genes in Williams Syndrome Deletion Region
    Uta Francke; Fiscal Year: 2005
    ..Williams-Beuren syndrome (WBS), a neurodevelopmental disorder with a distinct profile of cognitive and behavioral features serves as a model ..
  3. Comparison of post-SCI locomotor training techniques
    EDELLE FIELD FOTE; Fiscal Year: 2006
    ..Two technologies that appear effective in promoting functional recovery are body weight support (BWS) and functional electrical stimulation (FES)...
  4. Treatment of Motor Function and Balance- A New Tool
    Lars Oddsson; Fiscal Year: 2006
    ..research has demonstrated in these populations of patients that gait training using partial body weight support (BWS) on a treadmill improves walking better than training with full weight bearing...
  5. MOLECULAR ANALYSIS OF WILLIAMS SYNDROME
    Ananda Roy; Fiscal Year: 2007
    DESCRIPTION (provided by applicant): Williams-Beuren Syndrome (WBS) is a neuro-developmental disorder with multisystem manifestations, including supravalvar aortic stenosis (SVAS), hypercalcemia in infancy, mild to moderate mental ..
  6. Marisa S Bartolomei; Fiscal Year: 2016
    ..imprinting plays a role in the transmission of a number of human disorders, including Beckwith-Wiedemann Syndrome (BWS), Silver-Russell Syndrome (SRS), Prader-Willi Syndrome and Angelman Syndrome, in that the sex of the parent that ..
  7. Establishment of a phenotypical model of adverse outcomes associated with ART
    KEVIN DALE WELLS; Fiscal Year: 2011
    ..adverse consequences during fetal and postnatal development, the most prevalent being Beckwith-Wiedemann Syndrome (BWS). The immediate goal of this proposal is to establish a loss-of- imprinting model that recapitulates BWS...
  8. EPIGENETIC REGULATION IN A CANCER ASSOCIATED REGION
    Michael J Higgins; Fiscal Year: 2012
    ..A large proportion of patients with Beckwith-Wiedemann syndrome (BWS), an imprinting disorder and cancer predisposition condition, exhibit loss of methylation (LOM) at the ..
  9. TUMOR SUPPRESSORS AND IMPRINTING AT CHROMOSOME 11P155
    Michael Higgins; Fiscal Year: 2000
    ..In addition, the genes responsible for Beckwith-Wiedemann syndrome (BWS; an overgrowth and cancer predisposition disorder) and Long QT syndrome map to this region...
  10. Role of regulatory sequence at the H19 imprinting control region
    Folami Ideraabdullah; Fiscal Year: 2009
    ..imprinted", gene expression are associated with a number of human diseases including Beckwith-Wiedemann Syndrome (BWS), Prader-Willi Syndrome, Angelman Syndrome and several types of cancer...
  11. A New Transgenic Approach for the Kidney
    Pumin Zhang; Fiscal Year: 2004
    ..Our long-term objectives are to elucidate the role of p57KIP2 in the development of the kidney...
  12. BWS AND EMBRYONAL TUMOR SUPPRESSOR GENES ON 11P15
    ANDREW FEINBERG; Fiscal Year: 2009
    ..and regulatory elements in BWS, using epigenomic and functional approaches, including a putative enhancer for p57KIP2 and a gene for hypoglyce- mia...
  13. Argentine ants: A system a study genes involved in human behavioral disease
    CHRISTOPHER DAVID SMITH; Fiscal Year: 2010
    ..For example, Williams-Beuren Syndrome (WBS), results in learning deficits and cardiopulmonary phenotypes and is associated with deletion of at least 25 genes ..
  14. CLONING IMPRINTED GENES FROM THE MOUSE
    Beverly Emanuel; Fiscal Year: 2003
    ..of the important role that imprinting plays in human diseases such as Prader-Willi syndrome (PWS), Angelman syndrome (AS), Beckwith-Wiedemann syndrome (BWS) and non-cytogenetically defined microdeletion syndromes and UPD effects.
  15. Teresa M Reyes; Fiscal Year: 2014
    ..Experiments proposed in this application will use an animal model to explore the underlying mechanisms for these brain and behavior changes and potentially identify possible avenues of intervention. ..
  16. Imprinted genes as risk and early detection markers for breast cancer
    Karin B Michels; Fiscal Year: 2010
    ....
  17. Martha Susiarjo; Fiscal Year: 2014
    ..The mouse will be used as a model system in the proposed studies to determine the potential etiology of human diseases with underlying environmental causes. ..
  18. Genomic Imprinting and Embryonic Development
    Laurie Jackson Grusby; Fiscal Year: 2009
    Beckwith-Wiedeman Syndrome (BWS), and Prader-Willi/Angelman Syndromes (PWS/AS) are rare developmental disorders with parent-of-origin effects that occur in 1/15,000 live births in the US...
  19. Keith E Tansey; Fiscal Year: 2014
    ..Over time, the locomotor training speed will be increased and the BWS decreased as can be tolerated by the patient...
  20. Lopa Mishra; Fiscal Year: 2016
    ..accumulate DNA damage that is exacerbated by DNA cross-linking agents such as mitomycin C similar to P57 null cells and Fanconi anemia cell lines...
  21. SENSORY/MOTOR INPUT EFFECTS ON GAIT IN SCI SUBJECTS
    EDELLE FIELD FOTE; Fiscal Year: 2001
    ..Two innovative technologies that appear to be effective for achieving this end are body weight support (BWS) and functional electrical stimulation (FES)...
  22. Rescue of developmental disorders in utero by gene-specific small molecules
    Michael J Higgins; Fiscal Year: 2011
    ..we will treat our recently developed mouse model of the human overgrowth condition, Beckwith-Wiedemann syndome (BWS), with PIPs in an attempt to normalize excessive growth in these mice...
  23. BODY WEIGHT SUPPORTED AMBULATION TRAINING AFTER SCI
    Blair Calancie; Fiscal Year: 2004
    ..This body weight support' (BWS) strategy has been combined with treadmill-based gait training in several centers throughout the world, with what ..
  24. CELLULAR AND MOLECULAR MECHANISMS OF GASTROINTESTINAL CANCERS
    Lopa Mishra; Fiscal Year: 2013
    ..that elf[+/-] and elf[+/-]/Smad3[+/-] mice are a model of the hereditary human cancer syndrome, Beckwith-Wiedemann (BWS)...
  25. RADIOGRAPHIC CONTRAST TO DIFFERENTIATE CAVITATED FROM NON-CAVITATED DENTAL CARIES
    DOUGLAS BENN; Fiscal Year: 2012
    ..In these areas, dentists cannot visually inspect for caries, and currently bitewing X- rays (BWs) only correctly detect the presence of enamel decay 15-25% of the time...
  26. Kevin D Bunting; Fiscal Year: 2016
    ..We have already identified key target genes involved in this process, including tie2 and p57. There are big differences between the hematopoietic stem cell and progenitor niches in regard to their oxidation ..
  27. James Palis; Fiscal Year: 2016
    ..Our preliminary studies indicate that embryonic, but not adult, platelets express high levels of p57 (Kip2)...
  28. PACAP REGULATION OF NEUROGENESIS AND SURVIVAL
    Emanuel Dicicco Bloom; Fiscal Year: 2009
    ..stimulating precursor proliferation are balanced by anti-mitogenic regulators of extra- (PACAP) and intracellular (p57) origins, which halt cell cycle progression and impact cortical neurogenesis...
  29. Andrew F Stewart; Fiscal Year: 2015
    ..on three interesting and surprising cell cycle regulators that have emerged from prior versions of this grant: p57, cMyc and p107...
  30. Notch Signaling and Lens Development
    Pumin Zhang; Fiscal Year: 2010
    ..In support of that, we found p57Kip2, a Cdk inhibitor required for the cell cycle withdrawal during lens fiber cell differentiation [2, 3], was a ..
  31. The Submembranous Cytoskeleton in Neutrophil Activation
    WILLIAM NAUSEEF; Fiscal Year: 2005
    ..membrane; and (3) to determine the structural basis for, and functional importance of, the interaction of p57 with proteins at the phagosome...
  32. MOLECULAR CONTRIBUTORS TO STEM CELL QUIESCENCE
    Richard Steinman; Fiscal Year: 2003
    ..This proposal will 1. Establish the levels of the p21, p16, p27 and p57 cdki's in quiescent stem cells...
  33. GROWTH CONTROL IN AGING FIBROBLASTS
    Eugenia Wang; Fiscal Year: 2003
    ..We hypothesize that in nongrowing cells p57 statin may function as a sequester to prevent the phosphorylation of the associated p110 RB; because the lack of ..
  34. p57KIP2 in Hematopoiesis and Leukemogenesis
    JOSEPH SCANDURA; Fiscal Year: 2009
    ..Using CD34-positive, primary, human hematopoietic progenitor/stem cells, we have identified p57KIP2 as the only CDKI rapidly and robustly upregulated by transforming growth factor beta (TGFbeta)...
  35. FUNCTIONAL REHABILITATION SYSTEM FOR MOBILITY AND SAFETY
    STEPHEN HEINRICHS; Fiscal Year: 1999
    Studies show benefits from the use of body weight supported (BWS) harness systems during rehabilitation for a variety of dianoses including spinal cord injury, cerebrovascular accident, osteoarthritis, and amputation...
  36. Hair Cell Regeneration-Functional Significance
    ROBERT DOOLING; Fiscal Year: 2007
    ..hair cells on the basilar papilla, that they are constantly regenerating new hair cells, and that increasing the rate of regeneration can "cure" some of the inherited threshold shift observed in BWS canaries. [unreadable] [unreadable]
  37. MECHANISM OF CYCLIN A-CDK2 INHIBITION BY P57
    KEVIN LUMB; Fiscal Year: 2001
    ..b>p57 can arrest the cell cycle by inhibiting the catalytic activity of cyclin-dependent kinases (Cdks)...
  38. VERBAL INTERACTIONS AND HEALTH OUTCOMES BY AGE GROUPS
    Samuel Putnam; Fiscal Year: 1980
    ..One of us (WBS) has developed a new taxonomy of verbal response modes which we have applied, in an initial study, to 52 patient-..
  39. MONOALLELIC EXPRESSION OF HUMAN GENES
    Benjamin Tycko; Fiscal Year: 2002
    ..Imprinting has been shown to be a chromosomal domain effect and three imprinted genes H19, IGF2 and p57KIP2, on chromosome 11p15...
  40. CONTROL OF THE DIFFERENTIATION OF LENS FIBER CELLS
    Pumin Zhang; Fiscal Year: 2004
    ..Through research into cell cycle regulation in mammals, we have discovered that p57KIP2, a Cdk inhibitor, is required for cell cycle arrest during the differentiation of both primary and secondary lens ..
  41. Cell cycle ontrol of B-cell mass
    Gay Crooks; Fiscal Year: 2005
    ..Our recent studies suggest key roles for two cell cycle genes, p57kip2 and cyclin D2, in differentiation and proliferation of pancreatic beta-cells during embryonic and postnatal life...
  42. CHARACTERIZATION OF P57--A CALMODULIN BINDING PROTEIN
    Daniel Storm; Fiscal Year: 1991
    ..We also propose to characterize phosphorylation of P-57 and identify the single phosphorylation site in the protein...
  43. NOVEL MECHANISMS OF TROPHOBLAST GROWTH CONTROL
    JULIE DELOIA; Fiscal Year: 2001
    ..Specifically, she proposes to 1: establish the relationship between cyclin E expression, levels of p21, p27, and p57 kinase activity and normal placental development using immunoprecipitations and western blot analyses from isolated ..
  44. Identification of Green Tea Polyphenol-Targeted Genes
    Stephen Hsu; Fiscal Year: 2004
    ..Preliminary data from our laboratories have demonstrated that normal epithelial cells express p57 (KIP2) in response to green tea polyphenols in a dose- and time-dependent manner...
  45. Conference on Genotype to Phenotype: Focus on Disease
    Uta Francke; Fiscal Year: 2002
    ..techniques, resources and approaches as they arise in different disciplines. In scope and orientation, this conference is unlike any others that have been organized recently. It is timely and its impact will likely be high. ..
  46. MOLECULAR MECHANISMS LEADING TO RETT SYNDROME
    Uta Francke; Fiscal Year: 2002
    ..Newborn screening programs could identify presymptomatic mutation carriers. One the causative genetic mechanism is known, understanding of the pathophysiology may lead to early therapeutic intervention. ..
  47. Imprinted SnoRNA Genes in the PWS deletion Region
    Uta Francke; Fiscal Year: 2005
    ..abstract_text> ..
  48. Intrathecal enzyme therapy for mucopolysaccharidosis I
    Patricia I Dickson; Fiscal Year: 2010
    ..This research investigates intrathecal enzyme therapy for canine MRS I with translation to the first clinical trial of intrathecal enzyme replacement therapy for MRS I patients. ..
  49. TREATING PERIODONTAL INFECTION: GLYCEMIC CONTROL
    George Taylor; Fiscal Year: 2002
    ..abstract_text> ..
  50. Methylation Landscape of the Human Genome
    Timothy Bestor; Fiscal Year: 2003
    ..The impending completion of the sequence of the human genome presents a unique opportunity to gain understanding of the shape of genomic methylation patterns and their role in human development and disease. ..
  51. PATHOGENIC MECHANISMS OF VENOUS DISEASE
    Vincent Falanga; Fiscal Year: 2004
    ..The proposed studies should advance knowledge of the pathogenesis of venous ulceration and fibrosis. ..
  52. 2007 CARTILAGE BIOLOGY & PATHOLOGY GORDON RESEARCH CONFERENCE
    Henry Kronenberg; Fiscal Year: 2007
    ..Special attention has been given to assure that the meeting takes full advantage of substantial representation of woman scientists as speakers and session chairs. ..
  53. CELL CYCLE CONTROL IN GLOMERULAR DISEASE
    Stuart Shankland; Fiscal Year: 2007
    ..The ultimate goal is to identify new targets for potential therapies in order to reduce the heavy burden of disease in patients with gIomerular disease. ..
  54. Role of Targeted Mutations in ViF on SHIV Pathogenesis
    Edward Stephens; Fiscal Year: 2006
    ..The proposed studies will provide new information on the role of this Vif motif in pathogenesis using a relevant macaque model. ..
  55. Hip Angle and Limb Load Affect Reflexes Post-Stroke
    Michael Lewek; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  56. Diabetes Associations with Caries and Tooth Loss
    George Taylor; Fiscal Year: 2005
    ..Results may also impact on existing clinical practice protocols, and promote new public policy in matters related to diabetes. ..
  57. MECHANISMS OF PODOCYTE INJURY
    Stuart Shankland; Fiscal Year: 2005
    ..We will test the hypothesis that stretch increases the levels of CDK-inhibitors (p21, p27, p57), thereby inhibiting proliferation, and inducing hypertrophy. Specific null podo be used for study...
  58. MECHANISM OF INDUCTION OF MALIGNANT GLIOMAS
    Demetrius Kokkinakis; Fiscal Year: 2002
    ..Genetic differences between tumor cells and those capable of infiltrating the normal parenchyma will also be identified and compared to those of initiated multipotent progenitor cells in order to understand their lineage. ..
  59. SHIV ASSOCIATED ENCEPHALOPATHY
    Edward Stephens; Fiscal Year: 2003
    ..It is anticipated that the proposed studies will provide valuable information which will improve our understanding of HIV-1 neuropathogenesis. ..
  60. TLS and TLS Fusion Proteins in Leukemia
    Liu Yang; Fiscal Year: 2005
    ..It is envisioned that successful completion of this project will unveil potential therapeutic targets in the treatment of human leukemias characterized by the t(16;21) translocation. ..
  61. CONTROL OF DIFFERENTIATION IN COLON CARCINOMA
    Luzhe Sun; Fiscal Year: 2001
    ....
  62. Dissection of the Anti-tumor Immune Response
    Erik Ranheim; Fiscal Year: 2006
    ..These studies will provide a clearer picture of CD4+ and CD8+ T cell anti-tumor immunity and better direct efforts at tumor immunotherapy in human patients. ..
  63. Enigmatic Mammalian DNA Methyltransferase Homologue
    Timothy Bestor; Fiscal Year: 2006
    ..We will perform biochemical and genetic experiments that will determine the biological functions of Dnmt2 in normal cells, and will determine whether the Dnmt2 gene is altered in neoplastic diseases of humans. ..
  64. HUMAN MAMMARY CELLS
    Martha Stampfer; Fiscal Year: 2002
    ..the presence or absence of TGF beta, telomerase activity, regulation of CDKIs (cyclin-dependent kinase inhibitors) p57 and p27, and c-myc) are coordinately controlled, with particular focus on alterations in c-myc and p57 during GO ..
  65. 6th International Podocyte Conference
    Stuart Shankland; Fiscal Year: 2006
    ..Moreover, this is an exciting era in podocytes biology given the large body of literature that has been published in the past 2-5 years. [unreadable] [unreadable] [unreadable]..
  66. BUILDING RESEARCH CAPACITY IN THE SCIENCES
    Veronica Nwosu; Fiscal Year: 2006
    ..abstract_text> ..
  67. MECHANISMS OF BIOENGINEERED SKIN IN HUMAN WOUNDS
    Vincent Falanga; Fiscal Year: 2003
    ..The proposed studies will advance our understanding of how a bioengineered skin product works in a human chronic wound and provide insight into further bioengineering needs. ..
  68. CHONDROGENESIS AND HISTONE MODIFICATION ENZYMES
    Liu Yang; Fiscal Year: 2007
    ....
  69. Pilot/Phase I Study of Intrathecal Laronidase for Spinal Cord Compression in Muco
    Patricia Dickson; Fiscal Year: 2009
    ..If successful, delivery into the spinal fluid could represent a practical, straightforward method of treating central nervous system disease due to lysosomal storage. ..