Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
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Multivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases.Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementRetinal dystrophies, genomic applications in diagnosis and prospects for therapyAsparaginase treatment side-effects may be due to genes with homopolymeric Asn codons (Review-Hypothesis)Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese familyWhole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsThe carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivoNovel mutations in PDE6B causing human retinitis pigmentosaNovel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.Posttranslational Modifications of Tubulin and Cilia.Upregulated epidermal growth factor receptor expression following near-infrared irradiation simulating solar radiation in a three-dimensional reconstructed human corneal epithelial tissue culture model.Identification of DmTTLL5 as a Major Tubulin Glutamylase in the Drosophila Nervous System.Glutamylation Regulates Transport, Specializes Function, and Sculpts the Structure of Cilia.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Klf4 glutamylation is required for cell reprogramming and early embryonic development in mice.
P2860
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P2860
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
description
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2014
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im Mai 2014 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2014/05/01)
@nl
наукова стаття, опублікована в травні 2014
@uk
مقالة علمية (نشرت في مايو 2014)
@ar
name
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
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Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
@en
type
label
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
@ast
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
@en
prefLabel
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
@ast
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
@en
P2093
P2860
P50
P921
P3181
P1476
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
@en
P2093
Andrew R Webster
Anthony T Moore
Christina Chakarova
Daniel G MacArthur
Eva Lenassi
Gavin Arno
Graham E Holder
Mirjana Becker
Monkol Lek
Shomi S Bhattacharya
P2860
P304
P3181
P356
10.1016/J.AJHG.2014.04.003
P407
P577
2014-05-01T00:00:00Z