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DFNB31
| Symbol: | DFNB31 | | Name(s): | deafness, autosomal recessive 31 | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | CIP98, DKFZp434N014, KIAA1526, RP11-9M16.1, USH2D, WHRN | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17171570 |
analysis of a novel genetic subtype for Usher syndrome, USH2D, which is caused by mutations in whirlin |
| 12833159 |
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. |
Recent Publications on DFNB31: |  |
Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort.
Breast Cancer Metastasis Suppressor 1 (BRMS1) suppresses metastasis of... | 6th August, 2009
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| Mol Psychiatry. 2009 Apr;14(4):351-3.
DOI Direct Link |
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
Autosomal recessive retinitis pigmentosa (ARRP) is a genetically... | 9th May, 2009
| Unite Cibles pour le Diagnostic et la Therapie, Centre de Biotechnologie
| Eur J Hum Genet. 2009 Apr;17(4):474-82. Epub 2008 Oct 15.
DOI Direct Link |
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was... | 28th February, 2009
| Institute of Human Genetics, Johannes Gutenberg University, Mainz,
| Hum Mol Genet. 2009 Feb 15;18(4):655-66. Epub 2008 Nov 20.
DOI Direct Link |
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.
The human Usher syndrome (USH) is the most frequent cause of combined... | 12th February, 2008
| Department of Cell and Matrix Biology, Institute of Zoology, Johannes
| Hum Mol Genet. 2008 Jan 1;17(1):71-86. Epub 2007 Sep 28.
DOI Direct Link |
MPP1 links the Usher protein network and the Crumbs protein complex in the retina.
The highly ordered distribution of neurons is an essential feature of a... | 13th December, 2007
| Department of Human Genetics, Radboud University Nijmegen Medical Centre,
| Hum Mol Genet. 2007 Aug 15;16(16):1993-2003. Epub 2007 Jun 21.
DOI Direct Link |
→View more research publications. |
DFNB31 results (if any) from reagent suppliers | 
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DFNB31 antibodies: Neuroscience > Sensory System > Auditory system ...
DFNB31 antibodies. ... DFNB31 antibody. IHC-P, WB. Rabbit polyclonal. Reacts with: Hu. Predicted: Ms, Rat. ab76850 · DFNB31 antibody. IHC-P, WB ...
http://www.abcam.com/index.html?t=231171&pt=1&c=3335&ei=&mu=...
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Whirlin (D-20) Antibody sc-49785
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, DFNB31, 25861, 9q32, NM_015404 ...
http://www.scbt.com/datasheet-49785-whirlin-d-20-antibody.ht...
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Abgent - Phosphorylation Antibodies - Phosphorylation
AP8402a, DEP1 Antibody (C-term), E, H. AT1757aNEW, DFNB31 monoclonal antibody ( M02), ELISA,S-ELISA,WB-Re, H. AP8128b, DGKA Antibody (C-term), WB, IHC, E, H ...
http://www.abgent.com/products/category/protein_modification...
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Whirlin (D-20) Antibody sc-49785
Species, 遺伝子名, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. ヒト, DFNB31, 25861, 9q32, NM_015404 ...
http://www.scbt.com/ja/datasheet-49785-whirlin-d-20-antibody...
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Abcam antibodies and reagents product map
... Cryptochrome I proteins and peptides (1) · Cytokeratin 3 antibodies (1) · DCDC2 antibodies (2) · DCDC2 proteins and peptides (1) · DFNB31 antibodies (3)
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http://www.abcam.com/index.html?cl=248&pageconfig=productmap...
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