Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
about
Bardet-Biedl SyndromeBBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.A systematic review of genetic syndromes with obesity.Primary Cilia in Cystic Kidney Disease.Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.Ethnic and population differences in the genetic predisposition to human obesity.The clinical implications of molecular monitoring and analyses of inherited retinal diseases.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.Managing Bardet–Biedl Syndrome—Now and in the Future.Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons.Ift172 conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defects.Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.Zebrafish as a Model for Drug Screening in Genetic Kidney Diseases.
P2860
Q26744178-2020FBBE-8913-4B4E-8360-707812F62CBEQ38602968-E8B2937B-A44B-44C1-82C9-135EF563EEA1Q39202448-5B64BAD8-B112-4888-9A52-37B2DB4C206BQ39242476-1EA21884-2B5F-4AEB-BC08-5F9106AEAF16Q39405146-15C37A82-50D4-40CA-B86E-91CFF7A38A93Q41106456-7F931002-C805-4D9A-8557-85077DD59BC0Q41986515-FE93BAFE-F957-42EF-A5CD-152923C5B511Q45872446-3A1D6619-F280-4F9E-878E-F330E53FD0FDQ47833085-39D2650F-475A-45C2-A57D-E0A11C222D32Q50301044-3075893B-1C28-43C4-9240-1BA7B14AF23DQ51556492-A27021FE-6DC9-47B0-810A-F1087D3DE36FQ52585937-9D562F63-AF03-45D8-837C-5B56D18C0632Q55206314-EC44D03C-96BC-442C-AE07-71E2D4244913Q55689509-702E89CF-5D20-4D56-BA41-27653C567AA6
P2860
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Identification of a novel muta ...... S20) in Bardet-Biedl syndrome.
@en
Identification of a novel mutation confirms the implication of IFT172
@nl
type
label
Identification of a novel muta ...... S20) in Bardet-Biedl syndrome.
@en
Identification of a novel mutation confirms the implication of IFT172
@nl
prefLabel
Identification of a novel muta ...... S20) in Bardet-Biedl syndrome.
@en
Identification of a novel mutation confirms the implication of IFT172
@nl
P2093
P2860
P50
P356
P1476
Identification of a novel muta ...... S20) in Bardet-Biedl syndrome.
@en
P2093
Claire Redin
Corinne Stoetzel
Elise Schaefer
Hélène Dollfus
Isabelle Missotte
Megana K Prasad
Sophie Scheidecker
Véronique Geoffroy
P2860
P2888
P304
P356
10.1038/JHG.2015.162
P577
2016-01-14T00:00:00Z
P5875
P6179
1022140075