TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression
about
Testing reported associations of genetic risk factors for oral clefts in a large Irish study populationDetermining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.Distinct genetic alterations in colorectal cancer.Developmental epigenetics of the murine secondary palateCleft lip and palate genetics and application in early embryological development.Expression of sumoylation deficient Nkx2.5 mutant in Nkx2.5 haploinsufficient mice leads to congenital heart defects.Optomotor-blind in the development of the Drosophila HS and VS lobula plate tangential cells.A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.Caenorhabditis elegans TBX-2 Directly Regulates Its Own Expression in a Negative Autoregulatory LoopSmall ubiquitin-like modifier (SUMO) modification mediates function of the inhibitory domains of developmental regulators FOXC1 and FOXC2Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation.Genetics of nonsyndromic orofacial cleftsMolecular signaling along the anterior-posterior axis of early palate development.X-linked markers in the Duchenne muscular dystrophy gene associated with oral cleftsThe Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.Overexpression of mouse TTF-2 gene causes cleft palateTbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.Molecular mechanisms by which T-bet regulates T-helper cell commitment.Sumoylation in Craniofacial Disorders.Jmjd3 and UTX play a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expressionCoordinated but physically separable interaction with H3K27-demethylase and H3K4-methyltransferase activities are required for T-box protein-mediated activation of developmental gene expression.Modeling Developmental and Tumorigenic Aspects of Trilateral Retinoblastoma via Human Embryonic Stem Cells.Function of the C. elegans T-box factor TBX-2 depends on SUMOylation.Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression.Function of the C. elegans T-box factor TBX-2 depends on interaction with the UNC-37/Groucho corepressor.Labial ankyloglossia associated with oligodontia: a case report.Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.Satb2, modularity, and the evolvability of the vertebrate jaw.A framework for exhaustively mapping functional missense variants.X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.Genome-wide Chromatin Mapping Defines AP2α in the Etiology of Craniofacial Disorders.T-box protein Tbx18 interacts with the paired box protein Pax3 in the development of the paraxial mesoderm.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.
P2860
Q24608802-F1CB5810-1DBB-4015-9F46-4516963CE722Q30401074-DE5CDD70-EC70-490B-A394-3696420ACE54Q33529093-6EFC5653-F6A2-441B-A3EC-F8CEAF7BF98AQ33614979-5DC7174E-F7C7-46D9-86E1-625D08A309DDQ33671456-ADBE1973-2C8E-484F-BEA5-B2725CEC7966Q33934076-BE84C75B-C84E-4F96-AE96-8687A559FC34Q35184214-EC8680DF-01A6-4F4D-9051-7A4B71DE8AA0Q35760584-988B18FE-0DEC-4F99-9960-CA9F4B1E959BQ35774011-7A2BD844-E71A-4B10-81F7-01E5BB136260Q36003002-580E33F2-BDB2-405B-A721-379A3311BF77Q36105669-B68CB921-6780-414A-B2C7-9945D7BC236FQ36219320-6A2A6616-AA40-40AD-90D6-8E72503A576FQ36516812-DAA65B67-4CBF-4EF8-9C95-EE210F28AFAFQ36693551-E8D9C06A-6B22-40EE-8AB5-B41B18CEA45DQ36980923-CED36610-AEBC-4F38-908F-68DEED658A80Q37296227-EA1C1098-CBE4-4AF7-9EE9-EA6851939EF9Q37378127-E06957CB-7063-4DC1-BADE-4E95A4B0B3DDQ37802429-682144C0-9E47-4AB7-9F5E-6470F54EB183Q38757476-66C3AC53-5C6B-407C-8462-A250406B032AQ39629008-6A210DF2-5773-4AD6-99C7-E1CEB3AA8EA7Q39921786-229FD35F-2A7D-4414-AD48-E96708737587Q41761751-7F957179-70DF-4B2B-A138-AC09644B06A6Q41850884-4669CA99-A995-46CC-AF28-274B7FA331EEQ41860885-6540C8F1-33F1-4E9B-A684-8E9873CC6192Q41963112-EA3868A6-8031-4236-88CE-59B2DA654389Q41965961-3ADC70C3-9AA9-45FE-AE71-CB626D5199EEQ42182097-0BC872E6-5EBB-4664-A807-7520F10ABFA0Q45864057-59281356-D114-4C52-9D51-87AD83A2FD6BQ47139491-A6F9317E-2C10-42E4-B5FE-24DF7AA83F27Q47396418-30F89D14-E383-4994-AFF5-97E8E30A5A5EQ50676759-313E0BDB-2DD8-4E67-A082-964B7CAA30F3Q51952128-DAED8E44-A695-4D6A-BD3A-9891559BDD85Q53577198-94CD4339-7153-441E-BAD5-8422B567855CQ55055964-DD2ECF8C-6D95-4639-8800-80A862CECC75
P2860
TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին 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
TBX22 missense mutations found ...... and transcriptional repression
@ast
TBX22 missense mutations found ...... and transcriptional repression
@en
TBX22 missense mutations found ...... and transcriptional repression
@en-gb
TBX22 missense mutations found ...... and transcriptional repression
@nl
type
label
TBX22 missense mutations found ...... and transcriptional repression
@ast
TBX22 missense mutations found ...... and transcriptional repression
@en
TBX22 missense mutations found ...... and transcriptional repression
@en-gb
TBX22 missense mutations found ...... and transcriptional repression
@nl
prefLabel
TBX22 missense mutations found ...... and transcriptional repression
@ast
TBX22 missense mutations found ...... and transcriptional repression
@en
TBX22 missense mutations found ...... and transcriptional repression
@en-gb
TBX22 missense mutations found ...... and transcriptional repression
@nl
P2093
P2860
P50
P921
P356
P1476
TBX22 missense mutations found ...... and transcriptional repression
@en
P2093
Andreas Kispert
Artemisia M Andreou
Gudrun E Moore
Marius C Jones
Markus Bussen
P2860
P304
P356
10.1086/521033
P407
P577
2007-08-16T00:00:00Z