Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
about
The sonic hedgehog-patched-gli pathway in human development and diseaseIdentification of a dominant negative homeodomain mutation in Rieger syndromeThe histone deacetylase 9 gene encodes multiple protein isoformsDown-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferationMutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin typeTwist and p53 reciprocally regulate target genes via direct interactionBasic helix-loop-helix transcription factor epicardin/capsulin/Pod-1 suppresses differentiation by negative regulation of transcriptionMarshall syndrome associated with a splicing defect at the COL11A1 locus.IGF1R variants associated with isolated single suture craniosynostosisTwist is a potential oncogene that inhibits apoptosisA systematic analysis of human disease-associated gene sequences in Drosophila melanogasterA multiparameter network reveals extensive divergence between C. elegans bHLH transcription factorsAltered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalitiesGrowth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studiesA Genetic-Pathophysiological Framework for CraniosynostosisThe emerging role of Twist proteins in hematopoietic cells and hematological malignanciesNormal and disease-related biological functions of Twist1 and underlying molecular mechanismsTranscriptional regulatory cascades in Runx2-dependent bone developmentRegulation of gene expression in osteoblasts.Signaling mechanisms implicated in cranial sutures pathophysiology: CraniosynostosisNew insights into craniofacial malformationsFunctional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect PatientsAkirin2 is essential for the formation of the cerebral cortexTWIST, a basic helix-loop-helix transcription factor, can regulate the human osteogenic lineageA survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individualsCooperative E-box regulation of human GLI1 by TWIST and USFSaethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndromeTwist: a molecular target in cancer therapeuticsTWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndromeIsolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domainsCraniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndromeThe role of Axin2 in calvarial morphogenesis and craniosynostosisMechanism of transcriptional activation by the proto-oncogene Twist1Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathologyGli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiationSox2 cooperates with Chd7 to regulate genes that are mutated in human syndromesCraniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1Derivation of the mammalian skull vaultA genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
P2860
Q24290288-94D6B7A8-4A50-4B7D-BD47-3FAB29D90DE3Q24291120-AABC7F38-B90C-4548-AD88-99F01F765998Q24294872-02AEBCE5-6840-4A14-9925-A5AF725B1DD7Q24304940-DF541C96-7F1E-482D-9C98-EE4FB0BDC850Q24307947-C377236C-3DC5-4120-9D86-9E7AC050CAD8Q24316412-EDBB9E0A-D3F9-473F-A93D-F22BD2E04B83Q24337398-CC9DDF3C-8369-47EE-9754-556A46C55B95Q24538872-9B8227F3-4526-4AD5-95BD-4A7C34D228E4Q24594463-E6557E6D-91FB-4A77-923E-A7796CF243D1Q24599468-4287017D-106E-4E6C-BB4C-274A256C1F4EQ24619672-46F81F75-A097-40B8-B091-DF21695E24BAQ24642967-94665660-8331-4F7D-945B-2F11C0338C07Q24651500-BB907F00-258F-4B42-8725-C68D27F91D72Q24675596-384137C5-032E-4C9D-96EE-5771A6C33F3CQ26784240-72305A68-0216-4E5C-A2EA-AA2E1C084168Q26822434-13A9CCB6-8544-4522-B468-D95F6D25B3BAQ26824524-F7622292-E299-4B01-B045-180075ABAD10Q26830666-3B73D01E-1D72-40D4-AE18-292299E3A633Q27691363-A0FC5600-AF30-485C-8E77-2286291A2C6EQ28073737-F888E7BF-68E2-4294-BB3A-71F21D387B90Q28088384-5624DBCE-8402-4846-BD8E-D4D91BB55D15Q28115006-F5543CBE-AF0B-412F-836C-1C8D72B1C8E2Q28119656-81FADAA0-3D72-4C24-8F8C-C03F752D91C9Q28138553-13BA56D7-D28B-4585-9D89-C9E3745A1CDBQ28211953-FB957D38-419F-4B94-9CD4-2FF39E8122F2Q28214475-8BE71FE1-F115-4817-BF61-06DC43897F7BQ28279180-D5825B82-46C8-47CD-B84B-324C3DD15066Q28294941-1F5C7F18-38C0-445C-8023-FFDC7A67088FQ28296558-D01CDD9E-9E6B-46EF-8CA6-644D8F24E691Q28505427-804DFA65-9B22-4AEE-BDB0-CFF7F6C9943CQ28509010-25EE174A-0040-4AE3-BDBB-D61500AD0897Q28511400-6A1CCB80-BC15-44A6-BA3C-1E61E5D40BE1Q28512117-7F33AEE2-BC55-4029-9471-2FB5E9C21750Q28585125-CE1D5F90-7EC7-4FDD-B3AD-B30ADDF0B381Q28587566-B881CB6D-E213-466C-B483-F13C2EA501B3Q28594392-18BFE61F-4CCE-4463-B2AB-473E3EB23EB8Q28646379-C98FC30B-B880-4EBA-86BC-93878F590A2FQ28742339-14951386-0266-4049-8900-9E9DED56EA91Q28767309-A1D7057D-B17A-406C-9A0B-20E44C1C6B3AQ28943389-1BB610AF-43FD-4CDE-93D3-DF9E7CA909E5
P2860
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@ast
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@en
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@en-gb
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@nl
type
label
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@ast
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@en
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@en-gb
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@nl
prefLabel
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@ast
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@en
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@en-gb
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@nl
P2093
P3181
P356
P1433
P1476
Mutations in TWIST, a basic he ...... r, in Saethre-Chotzen syndrome
@en
P2093
C Garcia Delgado
L C Chiang
M Gonzalez-Ramos
R I Ortiz de Luna
T D Howard
W A Paznekas
P2860
P2888
P3181
P356
10.1038/NG0197-36
P407
P577
1997-01-01T00:00:00Z
P6179
1001951036