Genomes and Genes
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
Publications244 found, 100 shown here
- Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15S 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...
- Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumourAngela 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...
- Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related statesSunita 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)...
- Akt and ERK control the proliferative response of mammary epithelial cells to the growth factors IGF-1 and EGF through the cell cycle inhibitor p57Kip2Devin 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...
- p57Kip2 regulates actin dynamics by binding and translocating LIM-kinase 1 to the nucleusTomotaka 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. 2003b>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...
- Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distributionM 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...
- p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor geneS 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...
- Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysisT Tokino
Laboratory of Molecular Medicine, The Institute of Medical Science, The University of Tokyo, Japan
Hum Genet 97:625-31. 1996We 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...
- An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndromeI Hatada
National Cardiovascular Center Research Institute, Osaka, Japan
Nat Genet 14:171-3. 1996b>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...
- Suppression of cell transformation by the cyclin-dependent kinase inhibitor p57KIP2 requires binding to proliferating cell nuclear antigenH 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...
- Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlationW 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...
- Induction of p57(KIP2) expression by p73betaEva 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...
- Aberrant DNA methylation of p57KIP2 identifies a cell-cycle regulatory pathway with prognostic impact in adult acute lymphocytic leukemiaLanlan Shen
Department of Leukemia, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
Blood 101:4131-6. 2003b>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...
- Degradation of p57Kip2 mediated by SCFSkp2-dependent ubiquitylationTakumi 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. 2003The 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...
- p57KIP2 modulates stress-activated signaling by inhibiting c-Jun NH2-terminal kinase/stress-activated protein KinaseTong 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. 2003b>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...
- Loss of p57KIP2 is associated with colorectal carcinogenesisJia Qing Li
Department of Pathology and Host Defense, Kagawa Medical University, Kagawa 761 0793, Japan
Int J Oncol 23:1537-43. 2003The 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...
- Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndromeN Diaz-Meyer
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
J Med Genet 40:797-801. 2003Beckwith-Wiedemann syndrome (BWS) arises by several genetic and epigenetic mechanisms affecting the balance of imprinted gene expression in chromosome 11p15.5...
- Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancerHidenobu 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....
- Aberrant methylation of p57KIP2 gene in lung and breast cancers and malignant mesotheliomasTakaya 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. 2004The 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...
- ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndromeTakahiro 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...
- The cell cycle inhibitor p57(Kip2) promotes cell death via the mitochondrial apoptotic pathwayP Vlachos
Karolinska Institutet, Institute of Environmental Medicine, 171 77 Stockholm, Sweden
Cell Death Differ 14:1497-507. 2007The 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...
- CDKN1C/p57kip2 is a candidate tumor suppressor gene in human breast cancerPamela S Larson
Department of Pathology and Laboratory Medicine, Boston University Medical Center, Boston, MA, USA
BMC Cancer 8:68. 2008CDKN1C (also known as p57KIP2) is a cyclin-dependent kinase inhibitor previously implicated in several types of human cancer...
- MiR-221 controls CDKN1C/p57 and CDKN1B/p27 expression in human hepatocellular carcinomaF 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...
- A new ubiquitin ligase involved in p57KIP2 proteolysis regulates osteoblast cell differentiationMinsoo 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...
- Significance of p57(Kip2) down-regulation in oncogenesis of bladder carcinoma: an immunohistochemical studyOnder 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...
- CDKN1C (p57) is a direct target of EZH2 and suppressed by multiple epigenetic mechanisms in breast cancer cellsXiaojing Yang
Cancer Biology and Pharmacology, Genome Institute of Singapore, A STAR Agency for Science, Technology and Research, Biopolis, Singapore
PLoS ONE 4:e5011. 2009CDKN1C (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...
- MicroRNA 92b controls the G1/S checkpoint gene p57 in human embryonic stem cellsSrikumar 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...
- p57Kip2 is a repressor of Mash1 activity and neuronal differentiation in neural stem cellsB 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...
- Aberrant DNA methylation of the p57KIP2 gene is a sensitive biomarker for detecting minimal residual disease in diffuse large B cell lymphomaKazumi 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...
- The Cdk inhibitor p57(Kip2) controls LIM-kinase 1 activity and regulates actin cytoskeleton dynamicsP Vlachos
Department of Oncology Pathology, Cancer Centrum Karolinska, Karolinska Institute, Stockholm, Sweden
Oncogene 28:4175-88. 2009The 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...
- CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphismsValeria 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. 2010Beckwith-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...
- p57(Kip2) and cancer: time for a critical appraisalAdriana Borriello
Department of Biochemistry and Biophysics, Second University of Naples, Naples, Italy
Mol Cancer Res 9:1269-84. 2011p57(Kip2) is a cyclin-dependent kinase inhibitor belonging to the Cip/Kip family, which also includes p21(Cip1) and p27(Kip1)...
- Downregulation of p57 accelerates the growth and invasion of hepatocellular carcinomaHui 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. 2011b>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...
- [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. 2011To investigate the regulatory effect of microRNA-221 (MIR221) on CDKN1C/p57 expression in colon carcinoma cells in vitro.
- Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndromeValerie 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...
- The cell cycle-regulated B-Myb transcription factor overcomes cyclin-dependent kinase inhibitory activity of p57(KIP2) by interacting with its cyclin-binding domainManel 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...
- p57(Kip2) cooperates with Nurr1 in developing dopamine cellsBertrand 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...
- Absence of p21(CIP 1), p27(KIP 1) and p 57(KIP 2) methylation in MDS and AMLKai 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...
- A role of p73 in mitotic exitPaola 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...
- Differential tumor suppressor properties and transforming growth factor-beta responsiveness of p57KIP2 in leukemia cells with aberrant p57KIP2 promoter DNA methylationS Q Kuang
Departments of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
Oncogene 26:1439-48. 2007To 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...
- Inactivation of p57KIP2 by regional promoter hypermethylation and histone deacetylation in human tumorsTakefumi Kikuchi
First Department of Internal Medicine, Sapporo Medical University, Sapporo 060 8543, Japan
Oncogene 21:2741-9. 2002To 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 ..
- Aberrant DNA methylation of p57(KIP2) gene in the promoter region in lymphoid malignancies of B-cell phenotypeYinghua Li
First Department of Internal Medicine, and the First Department of Pathology, Nagoya University School of Medicine, Nagoya, Japan
Blood 100:2572-7. 2002The cyclin-dependent kinase inhibitor p57(KIP2) is thought to be a potential tumor suppressor gene (TSG). The present study examines this possibility...
- Expression of cyclin-dependent kinase inhibitors during corneal wound repairJ 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...
- Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith-Wiedemann syndromeK 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)...
- 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 experienceG 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...
- A survey of assisted reproductive technology births and imprinting disordersSarah 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)...
- 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...
- Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndromeZhi 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 ..
- 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 imprintingM 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 ..
- Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of natureL 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 ..
- [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....
- 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 ablationDaniele 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...
- Epigenetics, genomic imprinting and assisted reproductive technologyY 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 ..
- Evaluation of calving seasons and marketing strategies in Northern Great Plains beef enterprises. II. Retained ownership systemsV 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 ..
- "Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndromeL G Best
Department of Family Practice, University of North Dakota, Grand Forks, North Dakota, USA
Fetal Pediatr Pathol 25:9-20. 2006The Wiedemann-Beckwith syndrome (WBS) was first described in 1963 as a group of anomalies involving primarily macrosomia, macroglossia, and omphalocele...
- Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniquesValeria 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. 2011Beckwith-Wiedemann syndrome (BWS) is a phenotypically and genotypically heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia and abdominal wall defects...
- Imprinting disorders and assisted reproductive technologySomjate 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. 2009To 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.
- Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene clusterT 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, ..
- Cell-cycle regulatory proteins in podocyte cell in idiopathic nephrotic syndrome of childhoodTarak 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 ..
- Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysisP Rump
Department of Clinical Genetics, Academic Hospital Groningen, Groningen, The Netherlands
Am J Med Genet A 136:95-104. 2005Beckwith-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%...
- Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cellsJet Bliek
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
Eur J Hum Genet 17:1625-34. 2009The 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...
- Recombinant thyroid-stimulating hormone in differentiated thyroid cancerY 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...
- Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeRosanna 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. 2002Beckwith-Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor predisposition and other congenital abnormalities, and is usually associated with abnormalities of chromosome 11p15...
- Consumer thresholds for establishing the value of beef tendernessM 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...
- Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15Adam C Smith
Institute of Medical Science, University of Toronto, Toronto, Canada
Am J Med Genet A 143:3010-5. 2007Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk...
- Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution meltingTomasz K Wojdacz
Institute of Human Genetics, University of Aarhus, Aarhus, Denmark
Hum Mutat 29:1255-60. 2008Beckwith Wiedemann syndrome (BWS) and Russell Silver syndrome (RS) are growth disorders with opposing epimutations affecting the H19/IGF2 imprinting center at 11p15.5...
- Use of surgical gamma probe for the detection of lymph node metastases in differentiated thyroid cancerF 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...
- A quantitative analysis of the nerve fibers in the VIIIth nerve of Belgian Waterslager canaries with a hereditary sensorineural hearing lossO Gleich
ENT Department, University of Regensburg, Germany
Hear Res 151:141-148. 2001The 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 ..
- Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologiesDerek 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. 2009Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events affecting imprinted genes at 11p15.5...
- Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channelsK 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. 2005Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is clinically and genetically heterogeneous...
- A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusMarcella 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. 2010BACKGROUND 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...
- Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndromeT 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...
- Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1R 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. 2001Dysregulation 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...
- Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defectsMichael 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. 2002Beckwith-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...
- Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndromeZsolt 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...
- Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndromeF R Grati
Unita di Citogenetica e Biologia Molecolare, Laboratorio TOMA, Busto Arsizio, Varese, Italy
J Med Genet 44:257-63. 2007The 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...
- Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiencyFrederic Lirussi
Service de Biochime et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
Am J Med Genet A 143:2796-803. 2007Beckwith-Wiedemann syndrome (BWS) is an overgrowth condition with tumor proclivity linked to a genetic imbalance of a complex imprinted region in 11p15.5...
- Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disordersJulie 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 ..
- Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndromeNoboru 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...
- Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndromeRaffaella 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)...
- Comparative transcript profiles of cell cycle-related genes in mouse primordial germ cells, embryonic stem cells and embryonic germ cellsEleonora 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; ..
- Soleus H-reflex modulation during body weight support treadmill walking in spinal cord intact and injured subjectsMaria 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...
- Isolated fetal omphalocele, Beckwith-Wiedemann syndrome, and assisted reproductive technologiesLouise 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. 2009To 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.
- IgA antibodies of coeliac disease patients recognise a dominant T cell epitope of A-gliadinE 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...
- 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 deciduasEmin 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)...
- Hydatidiform moles: ancillary techniques to refine diagnosisBrigitte 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 ..
- p57(KIP2) immunohistochemical staining of gestational trophoblastic tumours does not identify the type of the causative pregnancyN J Sebire
Department of Histopathology, Charing Cross Hospital, London, UK
Histopathology 45:135-41. 2004To 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 ..
- Exclusion of actin-binding protein p57/coronin-1 from bacteria-containing phagosomes in macrophages infected with LegionellaTsuyoshi 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...
- Phorbol ester-dependent phosphorylation regulates the association of p57/coronin-1 with the actin cytoskeletonTeruaki Oku
Department of Microbiology, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Tokyo 142 8501, Japan
J Biol Chem 283:28918-25. 2008The 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...
- Periodontal conditions in Williams Beuren syndrome: a series of 8 casesC Joseph
Dept Dentistry, Albert Chenevier Henri Mondor Hospital, Paris 5 René Descartes, University, France
Eur Arch Paediatr Dent 9:142-7. 2008Williams 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...
- Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalitiesCraig J Goergen
Department of Bioengineering, Stanford University School of Medicine, Stanford, Calif, USA
J Vasc Res 48:119-29. 2011The Williams-Beuren syndrome (WBS) is a genetic disorder caused by a heterozygous ~1.5-Mb deletion...
- Cell type-specific proteins which interact with the 5' nontranslated region of hepatitis A virus RNAK 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...
- An in-vivo study of the wound-bursting strengths of octyl-cyanoacrylate, butyl-cyanoacrylate, and surgical tape in ratsBreena 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...
- Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanismStephen J Palmer
Department of Anatomy, School of Medical Sciences, The University of New South Wales, Sydney 2052, Australia
J Biol Chem 285:4715-24. 2010The 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...
- Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndromeV 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...
- Analysis of CDKN1C in Beckwith Wiedemann syndromeE Algar
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
Hum Mutat 15:497-508. 2000In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS...
- Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndromeR 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...
- Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumourFlavia 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)...
- Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yieldJochen K Lennerz
Department of Pathology, Massachusetts General Hospital Harvard Medical School, Boston, Massachusetts, USA
J Mol Diagn 12:576-88. 2010Beckwith-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...
- 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 methodsJulie 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 ..
- A human p57(KIP2) transgene is not activated by passage through the maternal mouse germlineR 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...
- Role of TFII-I in signal transduction by growth factorsBRENT COCHRAN; Fiscal Year: 2004..Hemizygousity for TFII-I is closely linked to the neurodevelopmental disorder Williams-Beuren syndrome (WBS) in humans...
- Function of Genes in Williams Syndrome Deletion RegionUta Francke; Fiscal Year: 2005..Williams-Beuren syndrome (WBS), a neurodevelopmental disorder with a distinct profile of cognitive and behavioral features serves as a model ..
- Comparison of post-SCI locomotor training techniquesEDELLE FIELD FOTE; Fiscal Year: 2006..Two technologies that appear effective in promoting functional recovery are body weight support (BWS) and functional electrical stimulation (FES)...
- Treatment of Motor Function and Balance- A New ToolLars 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...
- MOLECULAR ANALYSIS OF WILLIAMS SYNDROMEAnanda Roy; Fiscal Year: 2007DESCRIPTION (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 ..
- 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 ..
- Establishment of a phenotypical model of adverse outcomes associated with ARTKEVIN 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...
- EPIGENETIC REGULATION IN A CANCER ASSOCIATED REGIONMichael 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 ..
- TUMOR SUPPRESSORS AND IMPRINTING AT CHROMOSOME 11P155Michael 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...
- Role of regulatory sequence at the H19 imprinting control regionFolami 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...
- A New Transgenic Approach for the KidneyPumin Zhang; Fiscal Year: 2004..Our long-term objectives are to elucidate the role of p57KIP2 in the development of the kidney...
- BWS AND EMBRYONAL TUMOR SUPPRESSOR GENES ON 11P15ANDREW 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...
- Argentine ants: A system a study genes involved in human behavioral diseaseCHRISTOPHER 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 ..
- CLONING IMPRINTED GENES FROM THE MOUSEBeverly 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.
- 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. ..
- Imprinted genes as risk and early detection markers for breast cancerKarin B Michels; Fiscal Year: 2010....
- 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. ..
- Genomic Imprinting and Embryonic DevelopmentLaurie Jackson Grusby; Fiscal Year: 2009Beckwith-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...
- 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...
- 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...
- SENSORY/MOTOR INPUT EFFECTS ON GAIT IN SCI SUBJECTSEDELLE 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)...
- Rescue of developmental disorders in utero by gene-specific small moleculesMichael 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...
- BODY WEIGHT SUPPORTED AMBULATION TRAINING AFTER SCIBlair 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 ..
- CELLULAR AND MOLECULAR MECHANISMS OF GASTROINTESTINAL CANCERSLopa Mishra; Fiscal Year: 2013..that elf[+/-] and elf[+/-]/Smad3[+/-] mice are a model of the hereditary human cancer syndrome, Beckwith-Wiedemann (BWS)...
- RADIOGRAPHIC CONTRAST TO DIFFERENTIATE CAVITATED FROM NON-CAVITATED DENTAL CARIESDOUGLAS 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...
- 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 ..
- James Palis; Fiscal Year: 2016..Our preliminary studies indicate that embryonic, but not adult, platelets express high levels of p57 (Kip2)...
- PACAP REGULATION OF NEUROGENESIS AND SURVIVALEmanuel 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...
- 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...
- Notch Signaling and Lens DevelopmentPumin 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 ..
- The Submembranous Cytoskeleton in Neutrophil ActivationWILLIAM 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...
- MOLECULAR CONTRIBUTORS TO STEM CELL QUIESCENCERichard Steinman; Fiscal Year: 2003..This proposal will 1. Establish the levels of the p21, p16, p27 and p57 cdki's in quiescent stem cells...
- GROWTH CONTROL IN AGING FIBROBLASTSEugenia 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 ..
- p57KIP2 in Hematopoiesis and LeukemogenesisJOSEPH 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)...
- FUNCTIONAL REHABILITATION SYSTEM FOR MOBILITY AND SAFETYSTEPHEN HEINRICHS; Fiscal Year: 1999Studies 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...
- Hair Cell Regeneration-Functional SignificanceROBERT 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]
- MECHANISM OF CYCLIN A-CDK2 INHIBITION BY P57KEVIN LUMB; Fiscal Year: 2001..b>p57 can arrest the cell cycle by inhibiting the catalytic activity of cyclin-dependent kinases (Cdks)...
- VERBAL INTERACTIONS AND HEALTH OUTCOMES BY AGE GROUPSSamuel 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-..
- MONOALLELIC EXPRESSION OF HUMAN GENESBenjamin 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...
- CONTROL OF THE DIFFERENTIATION OF LENS FIBER CELLSPumin 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 ..
- Cell cycle ontrol of B-cell massGay 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...
- CHARACTERIZATION OF P57--A CALMODULIN BINDING PROTEINDaniel Storm; Fiscal Year: 1991..We also propose to characterize phosphorylation of P-57 and identify the single phosphorylation site in the protein...
- NOVEL MECHANISMS OF TROPHOBLAST GROWTH CONTROLJULIE 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 ..
- Identification of Green Tea Polyphenol-Targeted GenesStephen 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...
- Conference on Genotype to Phenotype: Focus on DiseaseUta 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. ..
- MOLECULAR MECHANISMS LEADING TO RETT SYNDROMEUta 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. ..
- Imprinted SnoRNA Genes in the PWS deletion RegionUta Francke; Fiscal Year: 2005..abstract_text> ..
- Intrathecal enzyme therapy for mucopolysaccharidosis IPatricia 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. ..
- TREATING PERIODONTAL INFECTION: GLYCEMIC CONTROLGeorge Taylor; Fiscal Year: 2002..abstract_text> ..
- Methylation Landscape of the Human GenomeTimothy 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. ..
- PATHOGENIC MECHANISMS OF VENOUS DISEASEVincent Falanga; Fiscal Year: 2004..The proposed studies should advance knowledge of the pathogenesis of venous ulceration and fibrosis. ..
- 2007 CARTILAGE BIOLOGY & PATHOLOGY GORDON RESEARCH CONFERENCEHenry 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. ..
- CELL CYCLE CONTROL IN GLOMERULAR DISEASEStuart 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. ..
- Role of Targeted Mutations in ViF on SHIV PathogenesisEdward 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. ..
- Hip Angle and Limb Load Affect Reflexes Post-StrokeMichael Lewek; Fiscal Year: 2006..unreadable] [unreadable]..
- Diabetes Associations with Caries and Tooth LossGeorge Taylor; Fiscal Year: 2005..Results may also impact on existing clinical practice protocols, and promote new public policy in matters related to diabetes. ..
- MECHANISMS OF PODOCYTE INJURYStuart 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...
- MECHANISM OF INDUCTION OF MALIGNANT GLIOMASDemetrius 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. ..
- SHIV ASSOCIATED ENCEPHALOPATHYEdward Stephens; Fiscal Year: 2003..It is anticipated that the proposed studies will provide valuable information which will improve our understanding of HIV-1 neuropathogenesis. ..
- TLS and TLS Fusion Proteins in LeukemiaLiu 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. ..
- CONTROL OF DIFFERENTIATION IN COLON CARCINOMALuzhe Sun; Fiscal Year: 2001....
- Dissection of the Anti-tumor Immune ResponseErik 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. ..
- Enigmatic Mammalian DNA Methyltransferase HomologueTimothy 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. ..
- HUMAN MAMMARY CELLSMartha 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 ..
- 6th International Podocyte ConferenceStuart 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]..
- BUILDING RESEARCH CAPACITY IN THE SCIENCESVeronica Nwosu; Fiscal Year: 2006..abstract_text> ..
- MECHANISMS OF BIOENGINEERED SKIN IN HUMAN WOUNDSVincent 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. ..
- CHONDROGENESIS AND HISTONE MODIFICATION ENZYMESLiu Yang; Fiscal Year: 2007....
- Pilot/Phase I Study of Intrathecal Laronidase for Spinal Cord Compression in MucoPatricia 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. ..