Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. - Wikidata - wikimedia - TriplyDB

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

http://www.wikidata.org/entity/Q37552382

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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling Spectrum of clinical diseases caused by disorders of primary cilia OFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblasts Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition Disruption of a ciliary B9 protein complex causes Meckel syndrome Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.NPHP4 variants are associated with pleiotropic heart malformations.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Rare inherited kidney diseases: challenges, opportunities, and perspectives.Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis.Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.Rab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities.A protocol for the identification and validation of novel genetic causes of kidney disease A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 Next-generation genetic testing for retinitis pigmentosa.Cystic kidney diseases: many ways to form a cyst.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Current insights into renal ciliopathies: what can genetics teach us?Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.Techniques and Approaches to Genetic Analyses in Nephrological Disorders.Joubert syndrome: congenital cerebellar ataxia with the molar tooth Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.Assessment of skewed exposure in case-control studies with pooling.Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

http://www.wikidata.org/entity/Q37552382

description

2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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2010年學術文章

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2010年學術文章

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name

Mutation analysis of 18 nephro ...... eneration sequencing strategy.

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Mutation analysis of 18 nephro ...... eneration sequencing strategy.

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type

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Mutation analysis of 18 nephro ...... eneration sequencing strategy.

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Mutation analysis of 18 nephro ...... eneration sequencing strategy.

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Mutation analysis of 18 nephro ...... eneration sequencing strategy.

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Mutation analysis of 18 nephro ...... eneration sequencing strategy.

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JMG.2010.082552

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Journal of Medical Genetics

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Mutation analysis of 18 nephro ...... eneration sequencing strategy.

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Amiya K Ghosh

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Bernd Hoppe

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Colin A Johnson

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David V Milford

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Detlef Bockenhauer

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Friedhelm Hildebrandt

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GPN Study Group

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Gokul Ramaswami

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Matthias T Wolf

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Moumita Chaki

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P2860

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

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105-116

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10.1136/JMG.2010.082552

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2

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Corinne Antignac

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