A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
about
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndromeThe whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6Transcriptional autorepression of Msx1 gene is mediated by interactions of Msx1 protein with a multi-protein transcriptional complex containing TATA-binding protein, Sp1 and cAMP-response-element-binding protein-binding protein (CBP/p300)Msx3 protein recruits histone deacetylase to down-regulate the Msx1 promoterHaploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndromeEnlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotypeCraniosynostosis in transgenic mice overexpressing Nell-1Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studiesA Genetic-Pathophysiological Framework for CraniosynostosisTranscriptional regulatory cascades in Runx2-dependent bone developmentSignaling mechanisms implicated in cranial sutures pathophysiology: CraniosynostosisRegulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5Clinical and molecular analysis of nine families with Adams-Oliver syndromeCloning and characterization of a novel protein kinase that impairs osteoblast differentiation in vitroCharacterization of two length cDNA for human MSX-2 from dental pulp-derived cellsDelineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closurePleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial developmentCloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndromeAccelerated closure of skin wounds in mice deficient in the homeobox gene Msx2The role of Axin2 in calvarial morphogenesis and craniosynostosisTgf-beta1, Tgf-beta2, Tgf-beta3 and Msx2 expression is elevated during frontonasal suture morphogenesis and during active postnatal facial growthOverexpression of Nell-1, a craniosynostosis-associated gene, induces apoptosis in osteoblasts during craniofacial developmentTransforming growth factor-beta3 (Tgf-beta3) down-regulates Tgf-beta3 receptor type I (Tbetar-I) during rescue of cranial sutures from osseous obliterationBone morphogenetic protein-2-induced alkaline phosphatase expression is stimulated by Dlx5 and repressed by Msx2YY1 activates Msx2 gene independent of bone morphogenetic protein signaling.Concerted action of Msx1 and Msx2 in regulating cranial neural crest cell differentiation during frontal bone developmentMsx1 disruption leads to diencephalon defects and hydrocephalusMsx2 is a repressor of chondrogenic differentiation in migratory cranial neural crest cellsCraniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.Skeletal gene expression in the temporal region of the reptilian embryos: implications for the evolution of reptilian skull morphologySignals and switches in Mammalian neural crest cell differentiationDerivation of the mammalian skull vaultA genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Human adipose tissue is a source of multipotent stem cellsEvaluation of candidate genes for familial brachydactyly.The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Genomic structure and complete sequence of the human FGFR4 gene.MSX2 mediates entry of human pluripotent stem cells into mesendoderm by simultaneously suppressing SOX2 and activating NODAL signaling.Domain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically informed disease markers.Clinical and molecular characterization of patients with distal 11q deletions.
P2860
Q24310222-8F033722-9073-4EEA-B045-D5215470DBF0Q24316397-352B0175-524E-47A0-A9AE-E236C239327CQ24531481-127037F1-6EA5-4E47-A7B3-03594B655570Q24532232-7269C1F2-8C35-4C8D-9B91-7B1FA65C1ACCQ24534695-2B3EAB56-6221-4985-9F0B-6417AA7A565CQ24548200-1C8812E6-FC59-4F92-9F76-FC67318FC51AQ24553230-272B3F96-646F-448E-A4B1-FA800FADF5BAQ24675596-4962D751-B61C-4917-B34A-0DB58F272688Q26784240-341980DE-8B3A-4514-B9FF-CFAC46AC5C8FQ26830666-28D061C2-338B-463D-97E0-36A3ED94E4FAQ28073737-42134A75-56FC-4EF1-B825-3250C22AB84DQ28202583-A37C69EC-F4F1-4433-BE66-84ECDA870D3DQ28207518-CFBD8081-998F-4FA5-9FB5-F6C57CEE85DBQ28212352-D745F8ED-10E0-4E03-8869-FBBDE59DFB6FQ28266141-0F26855C-C318-4D1F-8EC0-4E05ED67F3FCQ28287803-D9BFEA29-74C0-40ED-88D0-BF4C4CB8CF8BQ28294004-C37DA9F8-EFD6-4789-810F-6312E03D0B36Q28298470-1B60ABC4-273E-4D48-94F8-72DEDF55F4FDQ28510475-E27F93F0-E35A-480A-9754-C3A69DEDBB9AQ28511400-52C92DF0-BE26-451E-A40B-3199E92C05BAQ28567708-9BCDE649-A003-4DC9-9D71-814D0BB7C9E1Q28569383-49DFEA25-31BB-41E5-9360-DDA40A0F93C3Q28578731-3E07A98F-7850-43ED-B272-233BD1D3E48EQ28586077-74AABFA2-E0F9-41A9-A851-17CDBE9EE089Q28586812-9F2B6D05-6550-49A5-97F6-A2EE0178BA0EQ28588574-3F4A3B8E-E497-4991-9A70-48E3F285B793Q28591998-E3DFF66A-560D-473E-B543-7F099641030BQ28594793-C91BF7B2-C468-47BB-BEC6-98251BFE59CAQ28646379-14BFC61E-1151-4DE5-BB7F-392E32FB7165Q28660535-EFEA62E3-2B24-4A89-838B-B322B85C412EQ28709598-CFCF86B6-4B09-4AEA-88DE-615D71BDEBB5Q28767309-C9570608-3E06-4DBA-80C6-F8232A49A9ACQ28943389-920D2F1F-E9D9-4652-9F72-A9CE95EFD7EFQ29617385-B2B82DB7-4DE4-4AD0-ABDD-4BA313CA380CQ30443037-2A878AE3-19FB-436C-B874-1C8F3589B6E0Q30530871-F401E912-6B4A-4A66-A210-11CABDABA2BDQ32128060-BE8A4388-8CDD-4E3A-BA04-68C235F8A577Q33361639-87C10F3C-1FCB-4148-967B-F8A1DCF48E01Q33401099-5DA7076C-84DC-45A3-88E7-9579C5EAA9E2Q33490677-8A2F62BF-8CFB-41D9-9A48-B77A501E2928
P2860
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
description
1993 nî lūn-bûn
@nan
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A mutation in the homeodomain ...... omal dominant craniosynostosis
@ast
A mutation in the homeodomain ...... omal dominant craniosynostosis
@en
A mutation in the homeodomain ...... omal dominant craniosynostosis
@nl
type
label
A mutation in the homeodomain ...... omal dominant craniosynostosis
@ast
A mutation in the homeodomain ...... omal dominant craniosynostosis
@en
A mutation in the homeodomain ...... omal dominant craniosynostosis
@nl
prefLabel
A mutation in the homeodomain ...... omal dominant craniosynostosis
@ast
A mutation in the homeodomain ...... omal dominant craniosynostosis
@en
A mutation in the homeodomain ...... omal dominant craniosynostosis
@nl
P2093
P3181
P1433
P1476
A mutation in the homeodomain ...... omal dominant craniosynostosis
@en
P2093
I S Haworth
J B Mulliken
M L Warman
P304
P3181
P356
10.1016/0092-8674(93)90379-5
P407
P577
1993-11-01T00:00:00Z