B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis - Wikidata - awgldk - TriplyDB

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

http://www.wikidata.org/entity/Q35030818

about

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone Smelling the roses and seeing the light: gene therapy for ciliopathies A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.Disruption of a ciliary B9 protein complex causes Meckel syndrome Cholangiocyte cilia are abnormal in syndromic and non-syndromic biliary atresia.The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.Modeling human disease in humans: the ciliopathies.A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies The ciliary transition zone: from morphology and molecules to medicine 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.The ciliopathies: a transitional model into systems biology of human genetic disease.Joubert syndrome: genotyping a Northern European patient cohort.Current insights into renal ciliopathies: what can genetics teach us?Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.Next-generation sequencing in the clinic: promises and challenges.Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development Bardet-Biedl syndrome: Is it only cilia dysfunction?Ciliopathies: Genetics in Pediatric Medicine.The cilium: a cellular antenna with an influence on obesity risk.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Ciliopathies.Photoreceptor Cilia and Retinal Ciliopathies.Comparison of commercially available target enrichment methods for next-generation sequencing.Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.The long reach of noncoding RNAs.Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

http://www.wikidata.org/entity/Q35030818

description

2011 nî lūn-bûn

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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի ապրիլին 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

B9D1 is revealed as a novel Me ...... quencing and deletion analysis

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B9D1 is revealed as a novel Me ...... quencing and deletion analysis

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type

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B9D1 is revealed as a novel Me ...... quencing and deletion analysis

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B9D1 is revealed as a novel Me ...... quencing and deletion analysis

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prefLabel

B9D1 is revealed as a novel Me ...... quencing and deletion analysis

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B9D1 is revealed as a novel Me ...... quencing and deletion analysis

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Human Molecular Genetics

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B9D1 is revealed as a novel Me ...... quencing and deletion analysis

@en

P2093

Christina M Heyer

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

Cynthia J Hommerding

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

Jamie L Sundsbak

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

Katharina Hopp

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

Mark B Consugar

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

Peter C Harris

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Peter G Czarnecki

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Priyanka Patel

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

Sandro Rossetti

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

Shail Patel

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

P2860

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

Functional genomic screen for modulators of ciliogenesis and cilium length

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

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

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

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

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

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

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

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2524-2534

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scholarly article

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10.1093/HMG/DDR151

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13

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20

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51051777

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21493627

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3109998

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