Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies - Wikidata - wikimedia - TriplyDB

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

http://www.wikidata.org/entity/Q33682550

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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans Of mice and men: molecular genetics of congenital heart disease Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis NPHP4 variants are associated with pleiotropic heart malformations.A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8 Juvenile nephronophthisis and dysthyroidism: a rare association Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.Exploring the genetic basis of early-onset chronic kidney disease.A protocol for the identification and validation of novel genetic causes of kidney disease Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies The ciliary transition zone: from morphology and molecules to medicine Congenital anomalies of the kidney and urinary tract: a genetic disorder?IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Cystic kidney diseases: many ways to form a cyst.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Current insights into renal ciliopathies: what can genetics teach us?ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Cilia and coordination of signaling networks during heart development.Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.Genetic basis of human left-right asymmetry disorders.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship.Hepatorenal fibrocystic diseases in children.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?Rare copy number variants in patients with congenital conotruncal heart defects.Early presentation of cystic kidneys in a family with a homozygousINVSmutation Renal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies andNPHP3mutation

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P2860

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

http://www.wikidata.org/entity/Q33682550

description

2011 nî lūn-bûn

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2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի օգոստոսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

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type

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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

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Kidney International

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Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

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Carsten Bergmann

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Friedhelm Hildebrandt

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Gokul Ramaswami

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John R Heckenlively

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Julia Hoefele

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Moumita Chaki

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Susan J Allen

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P2860

A systematic approach to mapping recessive disease genes in individuals from outbred populations

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

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

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 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

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

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

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

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10.1038/KI.2011.284

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