Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. - Wikidata - awgldk - TriplyDB

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

http://www.wikidata.org/entity/Q34393576

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Human basal body basics CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome New frontiers: discovering cilia-independent functions of cilia proteins Advances in Skeletal Dysplasia Genetics Genetics and genomic medicine in Saudi Arabia Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies Mitotic Protein CSPP1 Interacts with CENP-H Protein to Coordinate Accurate Chromosome Oscillation in Mitosis Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 Mutation spectrum of Joubert syndrome and related disorders among Arabs.Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes MKS1 regulates ciliary INPP5E levels in Joubert syndrome.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Photoreceptor Cilia and Retinal Ciliopathies.Molecular genetic analysis of 30 families with Joubert syndrome.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population Identification of a novel MKS locus defined by TMEM107 mutation.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Primary cilia proteins: ciliary and extraciliary sites and functions.Specific retinal phenotype in early IQCB1-related disease.A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.A further family of Stromme syndrome carrying CENPF mutation

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Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

http://www.wikidata.org/entity/Q34393576

description

2013 nî lūn-bûn

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2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.

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Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.

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J.AJHG.2013.11.010

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American Journal of Human Genetics

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A Micheil Innes

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Albert E Chudley

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Bernard N Chodirker

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Catrina M Loucks

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Colin A Johnson

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Coralie Poizat

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Erica E Davis

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Hanan E Shamseldin

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Jacek Majewski

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Jillian Parboosingh

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P2860

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

Centrosome/spindle pole-associated protein regulates cytokinesis via promoting the recruitment of MyoGEF to the central spindle.

The pericentriolar satellite protein CEP90 is crucial for integrity of the mitotic spindle pole

Spectrum of clinical diseases caused by disorders of primary cilia

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

Novel CENPJ mutation causes Seckel syndrome

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

CPAP is required for cilia formation in neuronal cells.

The primary cilium: a signalling centre during vertebrate development

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Nicholas Katsanis

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Fowzan S Alkuraya

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