USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

about

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.An overview of the Prince Salman Center for Disability Research scientific outcomes Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.

P2860

Q30389509-58D5ED53-8B58-4FAC-A99F-11257DAE73C4 Q35183464-B329B06E-D833-47BE-AFEF-557611F2F529 Q49196891-56EB0EDD-9DC6-47F6-BEB3-986F787DF740

P2860

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Item

http://www.wikidata.org/entity/Q36146000

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

USH1G with unique retinal find ...... genome-wide linkage analysis.

@ast

USH1G with unique retinal find ...... genome-wide linkage analysis.

@en

type

Item

label

USH1G with unique retinal find ...... genome-wide linkage analysis.

@ast

USH1G with unique retinal find ...... genome-wide linkage analysis.

@en

prefLabel

USH1G with unique retinal find ...... genome-wide linkage analysis.

@ast

USH1G with unique retinal find ...... genome-wide linkage analysis.

@en

P1476

USH1G with unique retinal find ...... y genome-wide linkage analysis

@en

P2093

Amal Hemidan

http://www.w3.org/2001/XMLSchema#string

Bashayer Al Mubarak

http://www.w3.org/2001/XMLSchema#string

Faiqa Imtiaz

http://www.w3.org/2001/XMLSchema#string

Faisal Al-Qahtani

http://www.w3.org/2001/XMLSchema#string

Ghada Bin-Khamis

http://www.w3.org/2001/XMLSchema#string

Khalid Tabbara

http://www.w3.org/2001/XMLSchema#string

Khalid Taibah

http://www.w3.org/2001/XMLSchema#string

Khushnooda Ramzan

http://www.w3.org/2001/XMLSchema#string

Mohammed Al-Owain

http://www.w3.org/2001/XMLSchema#string

Shelley Kennedy

http://www.w3.org/2001/XMLSchema#string

P2860

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins

A simple salting out procedure for extracting DNA from human nucleated cells

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

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction

P304

1885-1894

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P478

http://www.w3.org/2001/XMLSchema#string

P50

Brian F Meyer

P577

2012-07-12T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

22876113

http://www.w3.org/2001/XMLSchema#string

P932

3413430

http://www.w3.org/2001/XMLSchema#string

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

about

P2860

P2860

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P478

P50

P577

P698

P932

P1433

P1476

P2093

P2860

P304

P31

P478

P50

P577

P698

P932