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*  Beckwith-Wiedemann syndrome - Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics - Tycko - Wiley Online Library
The syndrome can be caused by various molecular defects, which lead to altered expression of certain imprinted genes on ... Beckwith-Wiedemann syndrome (BWS) is a well-studied human overgrowth disorder, associated with visceromegaly, exomphalos, and ... Beckwith-Wiedemann syndrome. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.3:30. ... BWS is a clinical syndrome, not a single disorder. Phenotypic heterogeneity is prominent, and we now appreciate that this ...
  http://onlinelibrary.wiley.com/doi/10.1002/047001153X.g103213/abstract
*  Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein elisa and antibody
Recombinant Protein and Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein Antibody at MyBioSource. ... Shop Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein ELISA Kit, ... Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein. Beckwith-Wiedemann syndrome chromosomal region 1 ... Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein Antibody. Also known as Beckwith-Wiedemann syndrome ...
  https://www.mybiosource.com/protein_family.php?root=beckwith-wiedemann-syndrome-chromosomal-region-1-candidate-gene-b-protein
*  Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative...
Clinical utility gene card for: Beckwith-Wiedemann Syndrome. Eur J Hum Genet 2014;22.doi:10.1038/ejhg.2013.132 ... Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and ... Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family. Pediatr ... BWS, Beckwith-Wiedemann syndrome; SRS, Silver-Russell syndrome; WCP, whole chromosome painting probe. ...
  https://jmg.bmj.com/content/55/3/205
*  Pseudohypoparathyroidism type 1B | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome#genes. ... gene. is inherited affects the way a gene acts, it is called ... For example, for genes that are only "active" when inherited. from a certain parent, methylation is one way that a gene's ... or epigenetic changes involving the GNAS or STX16 gene, or by unidentified genetic or epigenetic factors.[1][2]. Treatment is ... genes. or chromosomes. . While there are several different PHP1B subtypes, they all appear to somehow be associated with ...
  https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b
*  Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome | Springer for Research & Development
We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35 ... Bliek J, Alders M, Ryan A, et al: The Beckwith-Wiedemann syndrome: entrance to genes involved in growth regulation. Abstract of ... Mannens M, Alders M, Redeker B, et al: Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy ... Wiedemann HR: Tumors and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 414:429, 1983.Google ...
  https://rd.springer.com/article/10.1007/BF03187335
*  WikiGenes - KCNQ1OT1 - KCNQ1 opposite strand/antisense transcript...
ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. ... Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Li, M., Squire, J., Shuman, C ... methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome ... Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. ...
  https://www.wikigenes.org/e/gene/e/10984.html
*  SLC22A18 Gene - GeneCards | S22AI Protein | S22AI Antibody
Complete information for SLC22A18 gene (Protein Coding), Solute Carrier Family 22 Member 18, including: function, proteins, ... Beckwith-Wiedemann Syndrome Chromosomal Region 1 Candidate Gene A Protein 3 4 ... Summaries for SLC22A18 Gene Entrez Gene Summary for SLC22A18 Gene. * This gene is one of several tumor-suppressing ... an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome ...
  https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18
*  H19 Gene - GeneCards | H19 RNA Gene
RNA Gene), H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding), including: function, proteins, disorders, ... Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing ... Localization for H19 Gene Subcellular locations from COMPARTMENTS Extracellular space Cytosol Plasma membrane Cytoskeleton ... No data available for DME Specific Peptides for H19 Gene Domains & Families for H19 Gene Gene Families for H19 Gene. HGNC:. * ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19&rf=/home/genecards/current/website/carddisp.pl&frnadb=10
*  Cyclin-dependent kinase inhibitor 1C - Wikipedia
GeneReviews/NIH/NCBI/UW entry on Beckwith-Wiedemann Syndrome CDKN1C human gene location in the UCSC Genome Browser. CDKN1C ... "An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome". Nature Genetics. 14 (2): 171-3. doi:10.1038/ng1096-171. ... "Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome". Human Genetics. 104 (3): 205-10. doi:10.1007/ ... Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndrome suggesting that it is a tumor suppressor ...
  https://en.wikipedia.org/wiki/Cyclin-dependent_kinase_inhibitor_1C
*  Recombinant Human SLC22A18 cell lysate SLC22A18-1621HCL - Creative BioMart
Beckwith-Wiedemann syndrome chromosome region 1, candidate A; beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A ... an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome ... p45 Beckwith-Wiedemann region 1A; organic cation transporter-like 2; p45-Beckwith-Wiedemann region 1 A; tumor-suppressing STF ... This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, ...
  https://www.creativebiomart.net/description_412463_318.htm
*  H19 gene - Genetics Home Reference - NIH
... together lead to overgrowth in people with Beckwith-Wiedemann syndrome.. In a few cases, Beckwith-Wiedemann syndrome has been ... Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome ... Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet. 2008 Apr;24(4):195-204. doi: ... Beckwith-Wiedemann syndrome, a condition characterized by overgrowth and other signs and symptoms that affect many parts of the ...
  https://ghr.nlm.nih.gov/gene/H19
*  CDKN1C gene - Genetics Home Reference - NIH
Beckwith-Wiedemann syndrome can also result from mutations within the maternally inherited copy of the CDKN1C gene. More than ... Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. Appl Clin Genet. 2014 ... Beckwith-Wiedemann syndrome is a condition that causes overgrowth and has other signs and symptoms that affect many parts of ... In a few cases, Beckwith-Wiedemann syndrome has been caused by deletions of a small amount of DNA from the maternally inherited ...
  https://ghr.nlm.nih.gov/gene/CDKN1C
*  Beckwith-Wiedemann syndrome (Concept Id: C0004903) - MedGen - NCBI
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, ... OMIM(Genes) OMIM records containing genes associated with phenotypes registered in MedGen ... Beckwith's syndrome (81780002); Beckwith-Wiedemann syndrome (81780002); Wiedemann-Beckwith syndrome (81780002); Exomphalos- ... Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, ...
  https://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen_bookshelf_cited&from_uid=18668518
*  Similar papers for Developmental control of allelic methylation in the imprinted mouse Igf2 and H19 genes. - Semantic Scholar
Here we analyse methylation in two regions of the Igf2 gene, one approx. 3 kb upstream of the gene and one in the 3' part of ... the level of methylation on the paternal allele is highly tissue-specific and is correlated with expression of the gene in ... of allelic methylation in both genes. Our results suggest that allelic methylation patterns in Igf2 and H19 arise early in ... the gene. Both regions are more methylated on the expressed paternal chromosome. Genomic sequencing of individual chromosomes ...
  https://www.semanticscholar.org/paper/Developmental-control-of-allelic-methylation-in-th-Feil-Walter/13e4d2c60a3bda0a582e94c313dc7ee442406655?tab=relatedPapers
*  Imprinting and Promoter Usage of Insulin-Like Growth Factor II in Twin Discordant Placenta
A. Murrell, S. Heeson, W. N. Cooper et al., "An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: ... "Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome," Human Molecular ... C.-L. Chen, S.-M. Ip, D. Cheng, L.-C. Wong, and H. Y. S. Ngan, "Loss of imprinting of the IGF-II and H19 genes in epithelial ... T. H. Vu and A. R. Hoffman, "Promoter-specific imprinting of the human insulin-like growth factor-II gene," Nature, vol. 371, ...
  https://www.hindawi.com/journals/ogi/2010/498574/ref/
*  PHLDA2 elisa kit | Human Pleckstrin Homology Like Domain Family A Member 2 ELISA Kit-NP 003302.1
Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein; Imprinted in placenta and liver protein; Tumor- ... beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein; tumor-suppressing subchromosomal transferable ... p17-Beckwith-Wiedemann region 1C; p17-Beckwith-Wiedemann region 1 C; tumor-suppressing STF cDNA 3 protein; imprinted in ... Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, ...
  https://www.mybiosource.com/prods/ELISA-Kit/Human/Pleckstrin-Homology-Like-Domain-Family-A-Member-2/PHLDA2/datasheet.php?products_id=5621
*  Derepression - Wikipedia
This abnormal derepression and increase in gene expression can result in Beckwith-Wiedemann syndrome. Lewis, Mitchell (June ... The increased expression of these MeCP2 regulated genes in neurons contribute to the Rhett syndrome phenotype. This syndrome is ... A common cause of this syndrome is a mutation in an imprint control region near the Igf2 gene. This imprint control region is ... Many cases of Rhett syndrome are associated with mutations in MECP2, a gene encoding a transcriptional repressor. Mutations in ...
  https://en.wikipedia.org/wiki/Derepression
*  TSPAN32 - Wikipedia
"Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse". Hum. ... an important tumor suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome ... This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal ... TSPAN32 human gene location in the UCSC Genome Browser. TSPAN32 human gene details in the UCSC Genome Browser.. ...
  https://en.wikipedia.org/wiki/TSPAN32
*  Genomic imprinting in diabetes | Genome Medicine | Full Text
Beckwith-Wiedemann syndrome, involving methylation of genes in the 11p15.5 region; Russell-Silver syndrome, involving imprinted ... are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. Nucleic Acids Res. 2005, 33: 2650-2660. ... both alleles at each locus influence expression of the gene. However, a small number of genes are imprinted, meaning that gene ... Because specific imprinted genes have been associated with syndromes marked by extreme obesity (for example, Prader-Willi) and ...
  https://genomemedicine.biomedcentral.com/articles/10.1186/gm176
*  Pituitary Adenylate Cyclase Activating Polypeptide Anti-Mitogenic Signaling in Cerebral Cortical Progenitors Is Regulated by...
1999) Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Genes Dev 13: ... 1997) Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome. ... 1995) p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes ... 1995) Kip/Cip and Ink4 Cdk inhibitors cooperate to induce cell cycle arrest in response to TGF-beta. Genes Dev 9:1831-1845. ...
  http://www.jneurosci.org/content/22/5/1583?ijkey=3d6d753b34616b93b0642d68c5eef3c0d534aa0c&keytype2=tf_ipsecsha
*  KEGG DISEASE: Beckwith-Wiedemann syndrome
Ontology (2) KEGG BRITE (2) Pathway (2) KEGG PATHWAY (2) Gene (8) KEGG ORTHOLOGY (3) KEGG GENES (5) Literature (5) PubMed (5) ... Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. ... Q87 Other specified congenital malformation syndromes affecting multiple systems. H00713 Beckwith-Wiedemann syndrome. ... Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. ...
  http://www.genome.jp/dbget-bin/www_bget?ds:H00713
*  Beckwith-Wiedemann Syndrome Associated Childhood Tumors | SpringerLink
... is a complex overgrowth disorder caused by a number of genes that are subject to genomic imprinting. A high incidence of solid ... Beckwith-Wiedemann syndrome (BWS) is a complex overgrowth disorder caused by a number of genes that are subject to genomic ... Later, Wiedemann and Beckwith described the syndrome in more detail (Beckwith 1969). BWS is characterized by a great variety of ... Beckwith-Wiedemann syndrome is a disorder first described by Beckwith in 1963 at the 11th annual meeting of the Western Society ...
  https://link.springer.com/referenceworkentry/10.1007/978-3-642-27841-9_575-2
*  What is Epigenetics? | HubPages
It takes a closer look at how environment affects the expression of genes. ... The study of epigenetics goes beyond the study of genes. ... One affect of IVF may be Beckwith-Wiedemann Syndrome, a ... Basically, its role is to turn genes "on" or "off" and prevent harmful elements such as viral genes from changing the DNA ... Over time chemical tags accumulate that can turn genes on and off, causing cancer. Because the genes themselves are turned off ...
  https://hubpages.com/education/epigenetics-basics
*  KCNQ1OT1 Gene - GeneCards | KCNQ1OT1 RNA Gene
RNA Gene), KCNQ1 Opposite Strand/Antisense Transcript 1 (Non-Protein Coding), including: function, proteins, disorders, ... ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. ... Localization for KCNQ1OT1 Gene Subcellular locations from COMPARTMENTS Extracellular space Cytosol Plasma membrane Cytoskeleton ... Orthologs for KCNQ1OT1 Gene Evolution for KCNQ1OT1 Gene. ENSEMBL:. Gene Tree for KCNQ1OT1 (if available). TreeFam:. Gene Tree ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1
*  Gene Expression Literature Summary - MGI
Sequence conservation and variability of imprinting in the beckwith-wiedemann syndrome gene cluster in human and mouse. Hum Mol ... The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal ... Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. BMC Dev Biol. 2010;10:50 ... Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc ...
  http://www.informatics.jax.org/gxdlit/marker/MGI:1861712