Molecular characterization of Joubert syndrome in Saudi Arabia. - Wikidata - wikimedia - TriplyDB

Molecular characterization of Joubert syndrome in Saudi Arabia.

Molecular characterization of Joubert syndrome in Saudi Arabia.

http://www.wikidata.org/entity/Q48475335

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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome From Planar Cell Polarity to Ciliogenesis and Back: The Curious Tale of the PPE and CPLANE proteins.Tectonic gene mutations in patients with Joubert syndrome.Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Genetic, chromosomal, and syndromic causes of neural tube defects.Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.Joubert syndrome: genotyping a Northern European patient cohort.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.Joubert syndrome: congenital cerebellar ataxia with the molar tooth Joubert syndrome in a neonate: case report with literature review Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Classification, clinical features, and genetics of neural tube defects.Motile and non-motile cilia in human pathology: from function to phenotypes.C5orf42 is the major gene responsible for OFD syndrome type VI.Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.Molecular genetic analysis of 30 families with Joubert syndrome.Silencing of TCTN1 inhibits proliferation, induces cell cycle arrest and apoptosis in human thyroid cancer.Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.Identification of a novel MKS locus defined by TMEM107 mutation.Three Tctn proteins are functionally conserved in the regulation of neural tube patterning and Gli3 processing but not ciliogenesis and Hedgehog signaling in the mouse.NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

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Molecular characterization of Joubert syndrome in Saudi Arabia.

http://www.wikidata.org/entity/Q48475335

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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name

Molecular characterization of Joubert syndrome in Saudi Arabia.

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Molecular characterization of Joubert syndrome in Saudi Arabia.

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type

label

Molecular characterization of Joubert syndrome in Saudi Arabia.

@en

Molecular characterization of Joubert syndrome in Saudi Arabia.

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prefLabel

Molecular characterization of Joubert syndrome in Saudi Arabia.

@en

Molecular characterization of Joubert syndrome in Saudi Arabia.

@nl

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P1476

Molecular characterization of Joubert syndrome in Saudi Arabia.

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P2093

Anas M Alazami

http://www.w3.org/2001/XMLSchema#string

Arif O Khan

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Fatema Alzahrani

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Leen Abu Safieh

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Mazhor Aldosary

http://www.w3.org/2001/XMLSchema#string

Mohammed Z Seidahmed

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Muneera J Alshammari

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P2860

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

The role of primary cilia in neuronal function

Homozygosity mapping of a third Joubert syndrome locus to 6q23

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Clinical features and revised diagnostic criteria in Joubert syndrome.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

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1423-1428

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scholarly article

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10.1002/HUMU.22134

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10

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33

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Mustafa A. Salih

Fowzan S Alkuraya

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2012-07-11T00:00:00Z

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22693042

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