Genomes and Genes
Gene Symbol: H19
Description: H19, imprinted maternally expressed transcript (non-protein coding)
Alias: ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, PRO2605, WT2
- Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndromeAngela Sparago
Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
Nat Genet 36:958-60. 2004..5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease...
- Examination of IGF2 and H19 loss of imprinting in bladder cancerHyang Min Byun
Division of Hematology, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California 90033, USA
Cancer Res 67:10753-8. 2007..We found 2/9 (22.2%) cases that displayed LOI of IGF2 and 2/16 (12.5%) that had LOI of H19, as determined by the evaluation of mRNA for biallelic expression...
- Frequent IGF2/H19 domain epigenetic alterations and elevated IGF2 expression in epithelial ovarian cancerSusan K Murphy
Division of Gynecologic Oncology, Duke University Medical Center, Box 91012, Durham, NC 27708, USA
Mol Cancer Res 4:283-92. 2006..The purpose of this study was to determine whether IGF2 loss of imprinting (LOI), aberrant H19 expression, and/or epigenetic deregulation of the IGF2/H19 imprinted domain contributes to elevated IGF2 expression ..
- Overexpression of an ectopic H19 gene enhances the tumorigenic properties of breast cancer cellsSéverine Lottin
Laboratoire de Biologie du Developpement, UPRES EA 1033, SN3, USTL, 59655 Villeneuve d Ascq cedex, France
Carcinogenesis 23:1885-95. 2002The maternally expressed H19 gene is transcribed as an untranslated RNA that serves as a riboregulator. We have previously reported that this transcript accumulates in epithelial cells in approximately 10% of breast cancers...
- Comparative genomic sequencing identifies novel tissue-specific enhancers and sequence elements for methylation-sensitive factors implicated in Igf2/H19 imprintingK Ishihara
Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Graduate University for Advanced Studies, Mishima, Shizuoka 411 8540, Japan
Genome Res 10:664-71. 2000..methylated region (DMR) and endoderm-specific enhancers, located upstream and downstream of the mouse H19 gene, respectively, are known to be essential for the reciprocal imprinting of Igf2 and H19...
- Hypomethylated and hypermethylated profiles of H19DMR are associated with the aberrant imprinting of IGF2 and H19 in human hepatocellular carcinomaJing Wu
Department of Biochemistry and Molecular Biology, School of Preclinical and Forensic Medicine, West China Medical Center, Chengdu 610041, Sichuan Province, China
Genomics 91:443-50. 2008..carcinoma (HCC) tissues and 7 normal adult liver tissues were screened for heterozygous polymorphisms in IGF2, H19, and the differentially methylated region of H19 (H19DMR) using PCR-RFLP and PCR sequencing...
- Frequent aberrant methylation of the imprinted IGF2/H19 locus and LINE1 hypomethylation in ovarian carcinomaReinhard H Dammann
Institute for Genetics, Justus Liebig University Giessen, Heinrich Buff Ring 58 62, D 35392, Giessen, Germany
Int J Oncol 36:171-9. 2010..analyzed the aberrant methylation of a differentially methylated region (DMR0) and a CTCF binding site of the IGF2-H19 locus and methylation of LINE1 and Satellite 2 in 22 primary ovarian carcinomas (OC) and controls by a quantitative ..
- Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasiaMaria Sandbacka
Folkhalsan Institute of Genetics, Biomedicum Helsinki, P O Box 63, FIN 00014 University of Helsinki, Helsinki, Finland
Fertil Steril 95:2703-6. 2011Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian ..
- Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locusRaffaella Nativio
Department of Oncology, University of Cambridge, Cancer Research UK Cambridge Research Institute, Cambridge, United Kingdom
PLoS Genet 5:e1000739. 2009..At the imprinted IGF2-H19 locus, CTCF plays an important role in organizing allele-specific higher-order chromatin conformation and functions ..
- [VIGILIN involves in regulation of imprinting gene IGF2 and H19 in human hepatocellular carcinoma cell]Ya jun Ge
Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, China
Sichuan Da Xue Xue Bao Yi Xue Ban 40:770-4. 2009To explore possible relationship among expression of human high density lipoprotein binding protein(VIGILIN), H19 and the insulin-like growth factor 2 (IGF2) mRNA in HepG2 cell cycle and investigate the role of VIGILIN in controlling ..
- Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndromeShin ichi Horike
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 149:2415-23. 2009..Of interest, in 3 of these 11 patients, the epigenetic alterations were limited to the H19 promoter and the distal region of its associated imprinting center, ICR1...
- 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)...
- Association of breast cancer susceptibility variants with risk of pancreatic cancerFergus J Couch
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
Cancer Epidemiol Biomarkers Prev 18:3044-8. 2009..Recently, several breast cancer susceptibility loci have been identified through genome-wide association studies. Here we evaluated possible associations between these single nucleotide polymorphisms (SNP) and pancreatic cancer risk...
- Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cellsMarjorie Pick
Stem Cell Unit, Department of Genetics, The Hebrew University, Edmund Safra Campus Givat Ram, Jerusalem 91904, Israel
Stem Cells 27:2686-90. 2009..However, we found biallelic expression of the H19 gene in one iPS cell line and biallelic expression of the KCNQ10T1 gene in another iPS cell line...
- [H19 expression in placenta with pre-eclampsia]Dan Zhao
Department of Obestetrics and Gynecology, Daping Hospital, The Third Military Medical University, Chongqing 400042, China
Zhonghua Fu Chan Ke Za Zhi 44:87-90. 2009To explore the role of H19 imprinting in etiology of pre-eclampsia.
- Aberrant epigenetic modifications in the CTCF binding domain of the IGF2/H19 gene in prostate cancer compared with benign prostate hyperplasiaAgnieszka Paradowska
Department of Urology and Pediatric Urology, Justus Liebig University, 35385 Giessen, Germany
Int J Oncol 35:87-96. 2009Expression of the imprinted genes insulin-like growth factor 2 (IGF2) and H19 depends on the methylation pattern of their common imprinting control region (ICR) located on chromosome 11p15...
- Homocysteine harasses the imprinting expression of IGF2 and H19 by demethylation of differentially methylated region between IGF2/H19 genesLijuan Li
Department of Pathophysiology, West China School of Preclinic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu 610041, China
Acta Biochim Biophys Sin (Shanghai) 41:464-71. 2009..Insulinlike growth factor 2 (IGF2) and H19 are two important regulating molecules of cell proliferation...
- The H19 gene imprinting in normal pregnancy and pre-eclampsiaL Yu
Department of Obstetrics and Gynecology, Research Institute of Surgery, Daping Hospital, Third Military Medical University, Chongqing, PR China
Placenta 30:443-7. 2009To characterize the H19 gene imprinting in the placental tissues of normal pregnancy and pre-eclampsia.
- 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 ..
- Expression of the imprinted IGF2 and H19 genes in the endometrium of cases with unexplained infertilityUmit Korucuoglu
Department of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, 06500 Besevler, Ankara, Turkey
Eur J Obstet Gynecol Reprod Biol 149:77-81. 2010..imprinting plays a critical role in the development of the placenta, the aim of this study was to detect whether the expression levels of the imprinted genes IGF2 and H19 in the endometrium differ between infertile and fertile women.
- Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted lociClaire Louise Susan Turner
Academic Unit of Genetic Medicine, School of Medicine, University of Southampton, Princess Anne Hospital, Southampton, UK
Eur J Hum Genet 18:648-55. 2010..status was analysed at target sequences within eleven imprinted loci (PLAGL1, IGF2R, PEG10, MEST1, GRB10, KCNQ1OT1, H19, IGF2P0, DLK1, PEG3, NESPAS)...
- Hypomethylation along with increased H19 expression in placentas from pregnancies complicated with fetal growth restrictionO Koukoura
Department of Obstetrics and Gynaecology, University Hospital of Heraklion, Crete Greece
Placenta 32:51-7. 2011..the human placenta and is implicated in the pathogenesis of congenital growth disorders such as Beckwith-Wiedemann (BWS) and Silver-Russell (SRS) syndromes...
- Inter- and intra-individual variation in allele-specific DNA methylation and gene expression in children conceived using assisted reproductive technologyNahid Turan
Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, Pennsylvania, United States of America
PLoS Genet 6:e1001033. 2010..and inter-individual variation in DNA methylation at the differentially methylated regions (DMRs) of the IGF2/H19 and IGF2R loci in a population of children conceived in vitro or in vivo...
- Detection of global DNA methylation and paternally imprinted H19 gene methylation in preeclamptic placentasWen Long Gao
State Key Laboratory of Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China
Hypertens Res 34:655-61. 2011..In the present study, we investigated global DNA methylation as well as DNA methylation of the paternally imprinted H19 gene in preeclamptic placentas...
- Association of birth weight with polymorphisms in the IGF2, H19, and IGF2R genesRonald M Adkins
Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee 38103, USA
Pediatr Res 68:429-34. 2010..We tested 18 single nucleotide polymorphisms (SNPs) in the IGF2, H19, and IGF2R genes for associations with birth weight variation in 342 mother-newborn pairs (birth weight 2.1-4...
- FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger womenJill S Barnholtz-Sloan
Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106 5065, USA
Carcinogenesis 31:1417-23. 2010..17-1.81]. Associations were observed for SNPs in FGFR2, LSP1, H19, TLR1/TLR6 and RELN for AA; FGFR2, TNRC9, H19 and MAP3K1 for Whites; FGFR2, TNRC9, Msc5A1 and chromosome 8q for ..
- Investigation of IGF2/ApaI and H19/RsaI polymorphisms in patients with cutaneous melanomaM R Soares
Department of Gynecology and Obstetrics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil
Growth Horm IGF Res 20:295-7. 2010..The aim of our study was to verify if single polymorphic sites within IGF2 and H19 genes and their consequent haplotypes influence risk and/or prognosis of familial melanoma.
- Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restrictionSilvia Tabano
Department of Medicine, Surgery and Dentistry, Unit of Medical Genetics, Universita degli Studi di Milano, Milano, Italy
Epigenetics 5:313-24. 2010..IGF2 and H19, belonging to the same cluster of imprinted genes and regulated by ICR1, DMR2 and H19 promoter elements, play a ..
- Common genetic variants associated with breast cancer and mammographic density measures that predict diseaseFabrice Odefrey
Department of Pathology and Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, University of Melbourne, Melbourne 3053, Australia
Cancer Res 70:1449-58. 2010..05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05)...
- Vitrification at the germinal vesicle stage does not affect the methylation profile of H19 and KCNQ1OT1 imprinting centers in human oocytes subsequently matured in vitroMohamed Al-Khtib
INSERM, Institut Cellule Souche et Cerveau, Bron, France
Fertil Steril 95:1955-60. 2011..To evaluate the integrity of genomic imprinting in oocytes vitrified at the germinal vesicle (GV) stage and in vitro matured (IVM) after thawing...
- Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomaliesSara Bruce
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
J Clin Endocrinol Metab 94:579-87. 2009The H19 imprinting control region (ICR), located on chromosome 11p15.5, has been reported hypomethylated in 20-65% of Silver-Russell syndrome (SRS) patients.
- Down-regulation of the IGF-2/H19 locus during normal and malignant hematopoiesis is independent of the imprinting patternMathewos Tessema
Institute of Pathology, Medizinische Hochschule Hannover, D 30625 Hannover, Germany
Int J Oncol 26:499-507. 2005b>H19 and IGF-2 are two growth regulatory genes located on chromosome 11p15 implicated in tumorigenesis. Both genes are imprinted and regulated reciprocally under many circumstances...
- The product of the H19 gene may function as an RNAC I Brannan
Howard Hughes Medical Institute, Princeton University New Jersey 08544
Mol Cell Biol 10:28-36. 1990The mouse H19 gene was identified as an abundant hepatic fetal-specific mRNA under the transcriptional control of a trans-acting locus termed raf...
- Genomic imprinting in disruptive spermatogenesisCristina Joana Marques
Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal
Lancet 363:1700-2. 2004..However, methylation of the H19 gene did not change in any of 27 normozoospermic individuals (0%, 95% CI 0-13%), compared with methylation changes ..
- Reduced expression of H19 in bone marrow cells from chronic myeloproliferative disordersOliver Bock
Leukemia 17:815-6. 2003
- Relaxation of imprinting of IGFII gene in juvenile nasopharyngeal angiofibromasCláudia M Coutinho-Camillo
Disciplina de Oncologia, Departmento de Radiologia da Faculdad de Medicina da Universidade de São Paulo
Diagn Mol Pathol 12:57-62. 2003IGFII and H19 genes are expressed only from one allele due to genomic imprinting, biallelic expression (loss of imprinting) being associated with the tumorigenic process of different types of tumors...
- Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19Michael R Debaun
Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, USA
Am J Hum Genet 72:156-60. 2003..to our knowledge, that ART is associated with a human overgrowth syndrome-namely, Beckwith-Wiedemann syndrome (BWS). In a prospective study, the prevalence of ART was 4.6% (3 of 65), versus the background rate of 0...
- Multiple nucleosome positioning sites regulate the CTCF-mediated insulator function of the H19 imprinting control regionMeena Kanduri
Department of Development and Genetics, Evolution Biology Centre, Uppsala University, S 752 36 Uppsala, Sweden
Mol Cell Biol 22:3339-44. 2002The 5' region of the H19 gene harbors a methylation-sensitive chromatin insulator within an imprinting control region (ICR)...
- Association of H19 promoter methylation with the expression of H19 and IGF-II genes in adrenocortical tumorsZhi He Gao
Department of Pathology, University of Helsinki, FIN 00014 Helsinki, Finland
J Clin Endocrinol Metab 87:1170-6. 2002Low H19 and abundant IGF-II expression may have a role in the development of adrenocortical carcinomas...
- 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...
- Sequence of a 42-kb mouse region containing the imprinted H19 locus: identification of a novel muscle-specific transcription unit showing biallelic expressionK Ishihara
Division of Disease Genes, Institute of Genetic Information, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan
Mamm Genome 9:775-7. 1998
- Relaxation of imprinted genes in human cancerS Rainier
Howard Hughes Medical Institute, University of Michigan Medical School, Ann Arbor 48109
Nature 362:747-9. 1993..Two genes in this band, H19 and insulin-like growth factor-II (IGF2) undergo reciprocal imprinting in the mouse, with maternal expression of ..
- A fine-structure deletion map of human chromosome 11p: analysis of J1 series hybridsT Glaser
Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139
Somat Cell Mol Genet 15:477-501. 1989..Our findings suggest the following gene order: TEL - (HRAS1, MER2, CTSD, TH/INS/IGF2, H19, D11S32) - (RRM1, D11S1, D11S25, D11S26) - D11S12 - (HBBC, D11S30) - D11S20 - (PTH, CALC) - (LDHA, SAA, TRPH, ..
- Common polymorphism in H19 associated with birthweight and cord blood IGF-II levels in humansClive J Petry
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital Level 8, Box 116, Cambridge CB2 2QQ, UK
BMC Genet 6:22. 2005..We identified ten single nucleotide polymorphisms (SNPs) in H19, and we genotyped three of these SNPs in families from the contemporary ALSPAC UK birth cohort (1,696 children, 822 ..
- Genetic imprinting during impaired spermatogenesisSonja Hartmann
Department of Urology and Pediatric Urology, Institute of Veterinary Anatomy, Histology and Embryology and Institute of Pathology, University of Giessen, Giessen Germany
Mol Hum Reprod 12:407-11. 2006..in disruptive spermatogenesis is available, we analysed the imprinting state of the paternally methylated gene H19 in various germ cell populations derived from seminiferous tubules exhibiting impaired spermatogenesis...
- Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMRKazuki Yamazawa
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, 157 8535, Japan
J Hum Genet 53:950-5. 2008..by growth failure and dysmorphic features, and is frequently caused by hypomethylation of the paternally derived H19-DMR (epimutation). We observed 5 8/12-year-old female twins discordant for SRS...
- Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologistsParveen Bhatti
Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD 20892 7238, USA
Cancer Epidemiol Biomarkers Prev 17:2007-11. 2008..found that the genotype-associated breast cancer risk varied significantly by radiation dose for rs2107425 in the H19 gene (P(interaction) = 0.001)...
- CTCFL/BORIS is a methylation-independent DNA-binding protein that preferentially binds to the paternal H19 differentially methylated regionPhuongmai Nguyen
Radiation Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
Cancer Res 68:5546-51. 2008..the maternal or paternal human chromosome 11 showed that BORIS preferentially binds to the methylated paternal H19 differentially methylated region, suggesting a mechanism in which the affinity of CTCF for the unmethylated ..
- Constitutional H19 hypermethylation in a patient with isolated cardiac tumorMaria Descartes
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
Am J Med Genet A 146:2126-9. 2008Beckwith-Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features...
- Loss of imprinting of IGF2 and H19, loss of heterozygosity of IGF2R and CTCF, and Helicobacter pylori infection in laryngeal squamous cell carcinomaIvana Grbesa
Laboratory of Molecular Pathology, Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia
J Mol Med (Berl) 86:1057-66. 2008Imprinting analyses of IGF2 and H19, loss of heterozygosity (LOH) analyses of IGF2R and CTCF and Helicobacter pylori detection, were performed on 35 human laryngeal squamous cell carcinomas (LSCC)...
- Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genesSasa Ostojic
Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Brace Branchetta 20, Rijeka, Croatia
Am J Reprod Immunol 60:111-7. 2008..IGF-2 stimulates trophoblast invasion, proliferation and maturation of placenta, while H19 RNA suppresses growth...
- Polymorphisms in the H19 gene and the risk of bladder cancerGerald W Verhaegh
Department of Urology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Eur Urol 54:1118-26. 2008b>H19 is an imprinted gene coding for an oncofetal RNA that is down-regulated postnatally. Reactivation of the H19 gene has been observed in bladder tumors, and H19 expression has been associated with early recurrence of 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)...
- IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasiaMichael Zeschnigk
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Eur J Hum Genet 16:328-34. 2008..analysis, and in 1 patient with body asymmetry without any other features of SRS or Beckwith-Wiedemann syndrome (BWS)...
- The H19 non-coding RNA is essential for human tumor growthImad J Matouk
Department of Biological Chemistry, Institute of Life Sciences, Hebrew University, Jerusalem, Israel
PLoS ONE 2:e845. 2007..Recent studies reveal that non-coding RNAs are controllers of gene expression. H19 is an imprinted gene that demonstrates maternal monoallelic expression without a protein product; although its ..
- [The aberrant imprinting of insulin-like growth factor II and H19 in human hepatocellular carcinoma]Jing Wu
Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, China
Sichuan Da Xue Xue Bao Yi Xue Ban 38:49-52. 2007To investigate the allelic expression of IGF2/H19 in human hepatocellular carcinoma and to analyze the relationship between the imprint status of IGF2 and that of H19.
- Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndromeJin Yeong Han
Department of Laboratory Medicine, Dong A University College of Medicine, 1, 3 Ga, Seo Gu, Busan, 602 715 Korea
J Hum Genet 51:641-3. 2006..5, which contributed to some of her features consistent with Beckwith-Wiedemann syndrome (BWS). The combined phenotype of BWS and POF suggests that the translocated portion of 11p remains active.
- The human ASM (adult skeletal muscle) gene: expression and chromosomal assignment to 11p15M P Leibovitch
Laboratoire de Cytogénétique et de Génétique Oncologiques, UA 1158 CNRS, Institut Gustave Roussy, Villejuif, France
Biochem Biophys Res Commun 180:1241-50. 1991..Among several positive clones the longest EcoRI-EcoRI insert (ASM1) obtained was 1875 bp long with 72% homology with rat Asm15 cDNA sequence...
- BRCA2 missense mutations and breast cancerFergus Couch; Fiscal Year: 2009..relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
- BRCA2 missense mutations and breast cancerFERGUS JOSEPH COUCH; Fiscal Year: 2010..relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
- Genetic epidemiology of cell division regulation in breast cancerFERGUS JOSEPH COUCH; Fiscal Year: 2010..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
- A genome-wide association study for breast cancer in BRCA1 mutation carriersFERGUS JOSEPH COUCH; Fiscal Year: 2010..The modifiers may also lead to development of improved risk assessment models that better discriminate between high and lower risk BRCA1 mutation carriers. ..
- Genomics and Epigenomics of Fetal Growth RegulationRonald M Adkins; Fiscal Year: 2010..Statistical analyses will be performed to test the three hypotheses. Note: The only change from the original abstract is a change from 1,000 to 800 mothernewborn pairs. ..
- Maternal-Fetal Conflict: The Effect of Imprinted Genes on Fetal GrowthRonald M Adkins; Fiscal Year: 2010..Dietary survey instruments during pregnancy and just afterwards will be used to determine the maternal intake of nutrients vital to DNA methylation. Statistical analyses will be performed to test the three hypotheses. ..
- BRCA2 missense mutations and breast cancerFergus Couch; Fiscal Year: 2009..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
- P21 INDUCTION BY BRCA2Fergus Couch; Fiscal Year: 2002....
- Imprinted PEG3 domain at 19q13.4 and carcinogenesisSusan Murphy; Fiscal Year: 2002..These studies will help clarify the role of the human PEG3 isoforms in the control of cellular growth, and may further contribute potential diagnostic and therapeutic targets for ovarian cancer. ..
- Analysis of Ethnic Admixture in Lung CancerJill Barnholtz Sloan; Fiscal Year: 2006..These projects will give me experience in developing methodology in statistical genetics and genetic epidemiology, while also helping me to better understand etiology of disease. ..
- Characterization of the Chromosome 17q23 AmpliconFergus Couch; Fiscal Year: 2006..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
- BRCA2 missense mutations and breast cancerFergus Couch; Fiscal Year: 2007..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
- Genetic epidemiology of cell division regulation in breast cancerFergus Couch; Fiscal Year: 2009..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..