Wolf-Hirschhorn syndrome candidate 1, also known as WHSC1, is a human gene.cite web | title = Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7468| accessdate = ]

section_title =
summary_text = This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences.cite web | title = Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7468| accessdate = ]


Further reading

citations =
*cite journal | author=Gutmajster E, Rokicka A |title= [Genetic determination of Wolf-Hirschhorn syndrome ] |journal=Wiad. Lek. |volume=55 |issue= 11-12 |pages= 706–10 |year= 2003 |pmid= 12715353 |doi=
*cite journal | author=Bergemann AD, Cole F, Hirschhorn K |title=The etiology of Wolf-Hirschhorn syndrome. |journal=Trends Genet. |volume=21 |issue= 3 |pages= 188–95 |year= 2005 |pmid= 15734578 |doi= 10.1016/j.tig.2005.01.008
*cite journal | author=Wright TJ, Ricke DO, Denison K, "et al." |title=A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 317–24 |year= 1997 |pmid= 9063753 |doi=
*cite journal | author=Chesi M, Nardini E, Brents LA, "et al." |title=Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. |journal=Nat. Genet. |volume=16 |issue= 3 |pages= 260–4 |year= 1997 |pmid= 9207791 |doi= 10.1038/ng0797-260
*cite journal | author=Richelda R, Ronchetti D, Baldini L, "et al." |title=A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. |journal=Blood |volume=90 |issue= 10 |pages= 4062–70 |year= 1997 |pmid= 9354676 |doi=
*cite journal | author=Stec I, Wright TJ, van Ommen GJ, "et al." |title=WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. |journal=Hum. Mol. Genet. |volume=7 |issue= 7 |pages= 1071–82 |year= 1999 |pmid= 9618163 |doi=
*cite journal | author=Chesi M, Nardini E, Lim RS, "et al." |title=The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. |journal=Blood |volume=92 |issue= 9 |pages= 3025–34 |year= 1998 |pmid= 9787135 |doi=
*cite journal | author=Kikuno R, Nagase T, Ishikawa K, "et al." |title=Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=6 |issue= 3 |pages= 197–205 |year= 1999 |pmid= 10470851 |doi=
*cite journal | author=Malgeri U, Baldini L, Perfetti V, "et al." |title=Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts. |journal=Cancer Res. |volume=60 |issue= 15 |pages= 4058–61 |year= 2000 |pmid= 10945609 |doi=
*cite journal | author=Garlisi CG, Uss AS, Xiao H, "et al." |title=A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. |journal=Am. J. Respir. Cell Mol. Biol. |volume=24 |issue= 1 |pages= 90–98 |year= 2001 |pmid= 11152655 |doi=
*cite journal | author=Rauch A, Schellmoser S, Kraus C, "et al." |title=First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. |journal=Am. J. Med. Genet. |volume=99 |issue= 4 |pages= 338–42 |year= 2001 |pmid= 11252005 |doi=
*cite journal | author=Perfetti V, Coluccia AM, Intini D, "et al." |title=Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. |journal=Am. J. Pathol. |volume=158 |issue= 5 |pages= 1599–603 |year= 2001 |pmid= 11337357 |doi=
*cite journal | author=Santra M, Zhan F, Tian E, "et al." |title=A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. |journal=Blood |volume=101 |issue= 6 |pages= 2374–6 |year= 2003 |pmid= 12433679 |doi= 10.1182/blood-2002-09-2801
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Intini D, Fabris S, Storlazzi T, "et al." |title=Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation. |journal=Br. J. Haematol. |volume=126 |issue= 3 |pages= 437–9 |year= 2004 |pmid= 15257719 |doi= 10.1111/j.1365-2141.2004.05048.x
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Keats JJ, Maxwell CA, Taylor BJ, "et al." |title=Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. |journal=Blood |volume=105 |issue= 10 |pages= 4060–9 |year= 2005 |pmid= 15677557 |doi= 10.1182/blood-2004-09-3704
*cite journal | author=Hudlebusch HR, Theilgaard-Mönch K, Lodahl M, "et al." |title=Identification of ID-1 as a potential target gene of MMSET in multiple myeloma. |journal=Br. J. Haematol. |volume=130 |issue= 5 |pages= 700–8 |year= 2005 |pmid= 16115125 |doi= 10.1111/j.1365-2141.2005.05664.x

update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes

Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • WHSC1L1 — Wolf Hirschhorn syndrome candidate 1 like 1, also known as WHSC1L1, is a human gene.cite web | title = Entrez Gene: WHSC1L1 Wolf Hirschhorn syndrome candidate 1 like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… …   Wikipedia

  • Wolf-Hirschhorn syndrome — Infobox Disease Name = Wolf Hirschhorn syndrome Caption = DiseasesDB = 32279 ICD10 = ICD10|Q|93|3|q|90 ICD9 = ICD9|758.3 ICDO = OMIM = 194190 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2446 MeshID = Wolf Hirschhorn syndrome, also known as …   Wikipedia

  • Wolf–Hirschhorn syndrome — Wolf Hirschhorn syndrome Classification and external resources ICD 10 Q93.3 ICD 9 758.3 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”