Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
about
Microtubule plus-end tracking proteins in neuronal developmentMutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.Ciliopathies: Genetics in Pediatric Medicine.Ciliopathies.The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase.Molecular genetic analysis of 30 families with Joubert syndrome.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction NetworkClinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).A distal centriolar protein network controls organelle maturation and asymmetry
P2860
Q26766239-91B97246-7F5F-422C-8733-01774A594095Q30668595-B0E272D1-A7E3-4E4A-8654-F7D77E0F9557Q38759596-44CEA4E7-7C81-413A-98CA-453D286284E2Q38994215-8F16518D-19C4-4B39-9170-9F9B041CEF3AQ39065776-12AC500A-00F1-4BB9-A807-F4FF572328F5Q40643638-51554347-8613-4E7E-BB47-500B64523F16Q40890886-23C6CF7A-FF07-4AB7-A9C9-74E2DE036FFEQ40949653-E393BE19-1ABB-45F5-86FC-BC395BBE9D8AQ48266850-0CEF0F6D-C01E-4B9E-B18E-E0FFA2734064Q52090887-31200535-9A51-4F76-8E5C-A26932B2DE25Q57149575-23419225-010F-479D-8BD1-B46DBCC5B0C0
P2860
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
@ast
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
@en
type
label
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
@ast
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
@en
prefLabel
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
@ast
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
@en
P2093
P2860
P50
P1476
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
@en
P2093
Anne-Marie Laberge
Brissa Martin
Bruno Maranda
Care4Rare Canada Consortium
Catalina Maftei
Catherine Fallet-Bianco
Christina Nassif
Christine Massicotte
Damian Labuda
Dianalee McKnight
P2860
P304
P356
10.1016/J.AJHG.2015.09.009
P407
P577
2015-10-14T00:00:00Z