*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  TSPAN32 Gene - GeneCards | TSN32 Protein | TSN32 Antibody
Complete information for TSPAN32 gene (Protein Coding), Tetraspanin 32, including: function, proteins, disorders, pathways, ... TSPAN32 (Tetraspanin 32) is a Protein Coding gene. Diseases associated with TSPAN32 include Beckwith-Wiedemann Syndrome. ... No data available for DME Specific Peptides for TSPAN32 Gene Domains & Families for TSPAN32 Gene Gene Families for TSPAN32 Gene ... Summaries for TSPAN32 Gene Entrez Gene Summary for TSPAN32 Gene. * This gene, which is a member of the tetraspanin superfamily ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32&origene_sirna_func=3
*  MRPL23 Gene - GeneCards | RM23 Protein | RM23 Antibody
Complete information for MRPL23 gene (Protein Coding), Mitochondrial Ribosomal Protein L23, including: function, proteins, ... Diseases associated with MRPL23 include Beckwith-Wiedemann Syndrome and Wilson-Turner Syndrome. Among its related pathways are ... No data available for DME Specific Peptides for MRPL23 Gene Domains & Families for MRPL23 Gene Gene Families for MRPL23 Gene. ... Evolution for MRPL23 Gene. ENSEMBL:. Gene Tree for MRPL23 (if available). TreeFam:. Gene Tree for MRPL23 (if available). ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23
*  JCI - Making the blastocyst: lessons from the mouse
... vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene ... Beckwith-Wiedemann Syndrome and ICF: A case-control study. Am J Hum Genet. 2004;75(3):526-528.. View this article via: PubMed ... Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet. 2003;40(1):62-64.. View this article via: ... such as the overgrowth disorder Beckwith-Wiedemann syndrome, in children born as a result of ART (63, 64), although the ...
  https://www.jci.org/articles/view/41229
*  Archive - May 28, 2012 | www.bioquicknews.com
The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, ... Variations in Single Gene Can Lead to Too Little or Too Much Growth. Mon, 05/28/2012 - 11:44 - bioquicknews UCLA geneticists, ... It promises to serve as an important model for comparative genomics and functional gene studies, due to its small genome size ... The discovery also offers a new tool for diagnosing children with IMAGe syndrome, which until now has been difficult to ...
  http://www.bioquicknews.com/archive/all/2012/5/28
*  Beckwith-Wiedemann syndrome | Journal of Medical Genetics
Solveig Heide, Sandra Chantot-Bastaraud, Boris Keren, Madeleine D Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Eloise Giabicani, Jean-Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude ...
  http://jmg.bmj.com/keyword/beckwith-wiedemann-syndrome
*  Imprinted Genes in Human Fetal Growth | Philosophical Transactions of the Royal Society B: Biological Sciences
Beckwith-Wiedemann syndrome; SRS, Silver-Russell syndrome; CNV, copy number variation; asterisk, findings from this study. ... 2010 Beckwith-Wiedemann syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 154C, 343-354. (doi:10.1002/ajmg.c.30267). ... 2011 Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome. Dis. Models Mech. 4, 814-821. (doi:10.1242/dmm. ... Correlation between imprinted gene expression in CVS and CRL. Expression levels of each gene relative to the L19 endogenous ...
  http://rstb.royalsocietypublishing.org/content/370/1663/20140074