About: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

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About: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene Goto Sponge NotDistinct Permalink

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scientific article (publication date: June 1997)

Attributes	Values
rdf:type	Item
description	articolo scientifico (it) artículu científicu espublizáu en 1997 (ast) vědecký článek publikovaný v roce 1997 (cs) наукова стаття, опублікована в червні 1997 (uk) 1997 թուականի Յունիսին հրատարակուած գիտական յօդուած (hyw) vedecký článok (publikovaný 1997-06) (sk) مقالة علمية (نشرت في يونيو 1997) (ar) 1997 թվականի հունիսին հրատարակված գիտական հոդված (hy) научни чланак (објављен 1997-06) (sr) article scientifique publié en 1997 (fr) wetenschappelijk artikel (gepubliceerd in 1997-06) (nl) im Juni 1997 veröffentlichter wissenschaftlicher Artikel (de) scientific article (publication date: June 1997) (en)
publication date	wds:Q28239757-EF77566A-5BFC-4883-9031-AAB9A41F99C7
publication date	1997-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28239757-9660D08C-4575-4539-A3E4-568A5D71D887
language of work or name	English
exact match	wds:Q28239757-A7487E5E-0DAC-4703-8352-D73E1F177012
exact match	https://scigraph.springernature.com/pub.10.1038/ng0697-191
cites work	wds:Q28239757-0E13E6A9-B8B1-4F73-B322-61D1D0D21F4E wds:Q28239757-0EC1252E-D635-4711-B258-8C6FC3387FC2 wds:Q28239757-154682D0-A8E1-4312-85B2-29A0211F20C4 wds:Q28239757-3D06DABC-6CD0-4F8C-A30E-6E14B856A5DD wds:Q28239757-4F98C22D-BFA7-4183-BAF6-3A3BF18222EF wds:Q28239757-61C6AD76-1857-472D-8B17-09F4BDE6DAFA wds:Q28239757-65419B49-1680-459C-BE40-1D1D78958F7E wds:Q28239757-7D1026FD-0662-47A8-A550-181E92E941EB wds:Q28239757-7EB9229C-CC6A-4B8F-8B05-E06072172701 wds:Q28239757-9527DC2F-4277-4D48-85DA-C8F6B2D0B4A9 wds:Q28239757-A02133C6-FA26-4B6F-A243-DA1CE9B2AEC6 wds:Q28239757-A2073CBC-24AE-4BBA-9061-000836B5B596 wds:Q28239757-A45E1013-B369-4AF4-A4E9-238F5146772F wds:Q28239757-A50432A5-50E0-4A74-BBBF-6691292A56E2 wds:Q28239757-AC820810-E029-4972-BBD9-62D8A6D0160D wds:Q28239757-AFBE341A-138D-4CD3-A33F-7C30954F9FDC wds:Q28239757-BA1A16A8-FC3E-4B99-AF14-96CB37229ACC wds:Q28239757-CE12F722-FB2C-46C2-98AF-437C37905810 wds:Q28239757-CE765A20-328C-4C55-B16A-6F39BF8DBC9C wds:Q28239757-DAEA34A1-9753-42F7-9AAF-56B75C8086A3 wds:Q28239757-DBCBABD9-DAC5-4961-A459-ECBBC858D9E9 wds:Q28239757-E27AD7F1-8782-4047-81FE-1637AD1D4F12 wds:Q28239757-F98DD394-359A-44C9-9F04-DE6B571FA8FC
cites work	Defective myosin VIIA gene responsible for Usher syndrome type 1B A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene A type VII myosin encoded by the mouse deafness gene shaker-1 Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. A simple method for displaying the hydropathic character of a protein Localization of two genes for Usher syndrome type I to chromosome 11. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia Connexin 26 mutations in hereditary non-syndromic sensorineural deafness Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells Three-dimensional structure of myosin subfragment-1: a molecular motor Genes responsible for human hereditary deafness: symphony of a thousand Brain myosin-V is a two-headed unconventional myosin with motor activity Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia Mammalian Ras interacts directly with the serine/threonine kinase Raf Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B Expression of myosin VIIA during mouse embryogenesis. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum
author name string	wds:Q28239757-2AC3ADAD-61AA-45E0-980C-BFAF38E565D9 wds:Q28239757-6F226A79-393D-4DAC-907E-C55F9E29F538 wds:Q28239757-888CF7A3-B767-4CC8-8121-FB39E2AE5C66 wds:Q28239757-A8432690-B4ED-49F5-B51C-40FB8122AB65 wds:Q28239757-D06C7714-2983-45A0-9D6D-FF1E6A1B344C wds:Q28239757-D9420AA8-7638-4203-868A-555EB67B3B05 wds:Q28239757-DA8F9DE9-7D41-4628-A381-331D36F13034
OpenCitations bibliographic resource ID	wds:Q28239757-C716AAF2-BBD8-4503-B285-1EB017C91BA2
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/936635
author name string	D Weil S Blanchard H Ayadi M Drira G Lévy F Levi-Acobas P Küssel
OpenCitations bibliographic resource ID	936635
rdfs:label	The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (en) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (nl) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (ast)
skos:prefLabel	The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (en) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (nl) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (ast)
name	The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (en) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (nl) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (ast)
author	wds:Q28239757-1BB06147-BAD7-4139-9527-A906026B7A36
author	Christine Petit
title	wds:Q28239757-1745B1E1-2FED-47B7-BEB2-384E74D8A046
title	The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (en)
page(s)	wds:Q28239757-898ABC01-76FD-431A-B931-CD348460E42C
page(s)	191-3
instance of	wds:Q28239757-FA628374-DAD3-4CCC-873E-FC31E91975B7
instance of	scholarly article

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