Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa
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Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyRetinal dystrophies, genomic applications in diagnosis and prospects for therapyThe role of primary cilia in the development and disease of the retinaUnexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosaDevelopments in Ocular Genetics: 2013 Annual ReviewNew syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Non-viral therapeutic approaches to ocular diseases: An overview and future directionsA novel IGH@ gene rearrangement associated with CDKN2A/B deletion in young adult B-cell acute lymphoblastic leukemia.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions.Genetic basis of human left-right asymmetry disorders.The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function.OR2W3 sequence variants are unlikely to cause inherited retinal diseases.Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.ARL2BP, a protein linked to Retinitis Pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure.ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.Actin-dependent regulation of cilia length by the inverted formin FHDC1The progression of the ClinGen gene clinical validity classification over timeConfirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis PigmentosaNovel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa
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P2860
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 11 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in ARL2BP, encoding ...... recessive retinitis pigmentosa
@en
Mutations in ARL2BP, encoding ...... ecessive retinitis pigmentosa.
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type
label
Mutations in ARL2BP, encoding ...... recessive retinitis pigmentosa
@en
Mutations in ARL2BP, encoding ...... ecessive retinitis pigmentosa.
@nl
prefLabel
Mutations in ARL2BP, encoding ...... recessive retinitis pigmentosa
@en
Mutations in ARL2BP, encoding ...... ecessive retinitis pigmentosa.
@nl
P2093
P2860
P50
P1476
Mutations in ARL2BP, encoding ...... recessive retinitis pigmentosa
@en
P2093
Alice E Davidson
Andrew R Webster
Benjamin Spitzbarth
Dror Sharon
Eyal Banin
Gabriele Stern-Schneider
Jacob Sosna
Lina Zelinger
Menachem Gross
Naushin H Waseem
P2860
P304
P356
10.1016/J.AJHG.2013.06.003
P407
P577
2013-07-11T00:00:00Z