Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
about
Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesisMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesDestabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.Ciliopathies.Motile and non-motile cilia in human pathology: from function to phenotypes.An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Primary cilia proteins: ciliary and extraciliary sites and functions.Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism.The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance.Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.Defective ciliogenesis in INPP5E-related Joubert syndrome.Endothelial dysfunction in pulmonary arterial hypertension: loss of cilia length regulation upon cytokine stimulation.Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.A distal centriolar protein network controls organelle maturation and asymmetry
P2860
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P2860
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
description
2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2015
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im September 2015 veröffentlicher wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2015/12/01)
@nl
наукова стаття, опублікована у вересні 2015
@uk
مقالة علمية (نشرت في ديسمبر 2015)
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name
Mutations in human homologue o ...... of Jeune and Joubert syndromes
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Mutations in human homologue o ...... of Jeune and Joubert syndromes
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type
label
Mutations in human homologue o ...... of Jeune and Joubert syndromes
@ast
Mutations in human homologue o ...... of Jeune and Joubert syndromes
@en
prefLabel
Mutations in human homologue o ...... of Jeune and Joubert syndromes
@ast
Mutations in human homologue o ...... of Jeune and Joubert syndromes
@en
P2093
P2860
P50
P3181
P1476
Mutations in human homologue o ...... of Jeune and Joubert syndromes
@en
P2093
Benjamin D Solomon
Camilo Toro
Daniel Konzman
Deniz Yildirimli
Dino Maglic
Jennifer Guo
John E Niederhuber
Joseph Snow
Joshi Stephen
Joy Bryant
P2860
P304
P3181
P356
10.1136/JMEDGENET-2015-103316
P407
P577
2015-09-18T00:00:00Z