MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement - Wikidata - wikimedia - TriplyDB

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

http://www.wikidata.org/entity/Q34896062

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Joubert Syndrome and related disorders Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)The role of primary cilia in neuronal function The role of primary cilia in the development and disease of the retina Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis The primary cilium: a signalling centre during vertebrate development Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization.Clinical and molecular features of Joubert syndrome and related disorders.Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome Ciliopathies: an expanding disease spectrum.Modeling human disease in humans: the ciliopathies.Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes Joubert syndrome: congenital cerebellar ataxia with the molar tooth Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity A developmental and genetic classification for midbrain-hindbrain malformations.Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.1001 model organisms to study cilia and flagella.Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.Introduction: Brain malformations.Ciliopathies.Motile and non-motile cilia in human pathology: from function to phenotypes.Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center.Mortality in Joubert syndrome.Expanding CEP290 mutational spectrum in ciliopathies Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

http://www.wikidata.org/entity/Q34896062

description

2009 nî lūn-bûn

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2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի փետրվարին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

MKS3/TMEM67 mutations are a ma ...... isorder with liver involvement

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MKS3/TMEM67 mutations are a ma ...... isorder with liver involvement

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MKS3/TMEM67 mutations are a ma ...... isorder with liver involvement

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MKS3/TMEM67 mutations are a ma ...... isorder with liver involvement

@en

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Carmelo D Salpietro

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Chiara Pantaleoni

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Damir Loncarevic

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Dominika Zabloka

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Francesco Brancati

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Francesco Emma

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Gilda Rita Stringini

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International JSRD Study Group

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Luciana Rigoli

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Mattia Gentile

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Dissection of epistasis in oligogenic Bardet-Biedl 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

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

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

The Meckel syndrome: clinicopathological findings in 67 patients

Prediction of deleterious human alleles

The primary cilium as the cell's antenna: signaling at a sensory organelle

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

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E432-42

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scholarly article

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10.1002/HUMU.20924

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2

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30

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Bruno Dallapiccola

Enza Maria Valente

Eugen Boltshauser

Lorena Travaglini

Annalisa Mazzotta

Joseph G Gleeson

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2009-02-01T00:00:00Z

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264667211

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19058225

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