RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
about
The Greig cephalopolysyndactyly syndromeMutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationRab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent mannerCrisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1The Role of Hedgehog Signaling in Tumor Induced Bone DiseaseA Genetic-Pathophysiological Framework for CraniosynostosisCharcot-Marie-Tooth disease and intracellular trafficRab and Arf proteins in genetic diseasesCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesThe Evi5 family in cellular physiology and pathologyRab GTPases, membrane trafficking and diseasesThe Hedgehog signalling pathway in bone formationGli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiationGuideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on CraniosynostosisA genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Role of Rab GTPases in membrane traffic and cell physiologyEvidence for defective Rab GTPase-dependent cargo traffic in immune disorders.PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Rab23 plays a role in the pathophysiology of mesangial cells--a proteomic analysis.Rab23 regulates differentiation of ATDC5 chondroprogenitor cells.Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.The role of the small GTPase Rab31 in cancer.Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.Jagged1 functions downstream of Twist1 in the specification of the coronal suture and the formation of a boundary between osteogenic and non-osteogenic cellsRegulation of cranial morphogenesis and cell fate at the neural crest-mesoderm boundary by engrailed 1.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.The epidemiology, genetics and future management of syndactyly.Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease.Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.Primary cilia in energy balance signaling and metabolic disorder.A review of hedgehog signaling in cranial bone developmentThe relationship between sonic Hedgehog signaling, cilia, and neural tube defectsStructural basis of membrane trafficking by Rab family small G protein.A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.The primary cilia, a 'Rab-id' transit system for hedgehog signaling.EphA4 as an effector of Twist1 in the guidance of osteogenic precursor cells during calvarial bone growth and in craniosynostosisLessons from extreme human obesity: monogenic disorders.
P2860
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P2860
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
description
2007 nî lūn-bûn
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2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
RAB23 mutations in Carpenter s ...... suture development and obesity
@ast
RAB23 mutations in Carpenter s ...... suture development and obesity
@en
RAB23 mutations in Carpenter s ...... suture development and obesity
@en-gb
RAB23 mutations in Carpenter s ...... suture development and obesity
@nl
type
label
RAB23 mutations in Carpenter s ...... suture development and obesity
@ast
RAB23 mutations in Carpenter s ...... suture development and obesity
@en
RAB23 mutations in Carpenter s ...... suture development and obesity
@en-gb
RAB23 mutations in Carpenter s ...... suture development and obesity
@nl
prefLabel
RAB23 mutations in Carpenter s ...... suture development and obesity
@ast
RAB23 mutations in Carpenter s ...... suture development and obesity
@en
RAB23 mutations in Carpenter s ...... suture development and obesity
@en-gb
RAB23 mutations in Carpenter s ...... suture development and obesity
@nl
P2093
P2860
P50
P921
P356
P1476
RAB23 mutations in Carpenter s ...... suture development and obesity
@en
P2093
Chad A Perlyn
Dagan Jenkins
Dian Donnai
Dragana Josifiova
Dragana Josifova
Elizabeth Sweeney
Fernanda S Jehee
Irene M J Mathijssen
Jeffrey L Marsh
Jenny E V Morton
P2860
P304
P356
10.1086/518047
P407
P577
2007-06-01T00:00:00Z