Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. - Wikidata - thesis-toulmin - TriplyDB

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

http://www.wikidata.org/entity/Q41154858

about

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid BBS mutations modify phenotypic expression of CEP290-related ciliopathies Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis Loss of Dishevelleds disrupts planar polarity in ependymal motile cilia and results in hydrocephalus.The ciliopathy gene Rpgrip1l is essential for hair follicle development.β-catenin links von Hippel-Lindau to aurora kinase A and loss of primary cilia in renal cell carcinoma.The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.Developmental disruptions underlying brain abnormalities in ciliopathies.Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe Craniofacial ciliopathies: An expanding oral disease spectrum - a review of literature and a case report.Joubert syndrome: congenital cerebellar ataxia with the molar tooth Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development Role of cilia in normal pancreas function and in diseased states.Role of cilia in structural birth defects: insights from ciliopathy mutant mouse models.Morphogenesis and molecular considerations on congenital cardiac septal defects.Salivary gland development and disease.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Centrosome positioning in non-dividing cells.Ciliopathies: Genetics in Pediatric Medicine.Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.Characterizing the morbid genome of ciliopathies.The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Primary Cilia in Brain Development and Diseases.Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.Signaling through the Primary Cilium.Primary cilia are critical for Sonic hedgehog-mediated dopaminergic neurogenesis in the embryonic midbrain.A further family of Stromme syndrome carrying CENPF mutation

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P2860

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

http://www.wikidata.org/entity/Q41154858

description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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name

Variable expressivity of cilio ...... hh and Wnt signalling defects.

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Variable expressivity of cilio ...... hh and Wnt signalling defects.

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Variable expressivity of cilio ...... hh and Wnt signalling defects.

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Variable expressivity of cilio ...... hh and Wnt signalling defects.

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Variable expressivity of cilio ...... hh and Wnt signalling defects.

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Variable expressivity of cilio ...... hh and Wnt signalling defects.

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P1433

Human Molecular Genetics

P1476

Variable expressivity of cilio ...... hh and Wnt signalling defects.

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P2093

Chris Inglehearn

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

Colin A Johnson

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

Katarzyna Szymanska

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

Subaashini Natarajan

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

Zakia A Abdelhamed

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P2860

A meckelin-filamin A interaction mediates ciliogenesis

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

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

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

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

Vertebrate Smoothened functions at the primary cilium.

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

The Frizzled CRD domain is conserved in diverse proteins including several receptor tyrosine kinases

Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

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1358-1372

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scholarly article

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10.1093/HMG/DDS546

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7

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22

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Gabrielle Wheway

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2013-01-02T00:00:00Z

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P5875

234042661

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23283079

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P921

cilium morphogenesis

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3596847

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