Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.

scientific article

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/HMG/DDS165
P932PMC publication ID3384386
P698PubMed publication ID22543974
P5875ResearchGate publication ID224867662

P50authorJosé Eduardo KriegerQ37370842
P2093author name stringScott Smemo
Alexandre C Pereira
Marcelo A Nobrega
Ivan P Moskowitz
Luciene C Campos
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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyQ24311501
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndromeQ24311600
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human heartsQ24314253
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathyQ24324422
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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locusQ24633183
Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte functionQ24634382
The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expressionQ24647961
Early endocardial morphogenesis requires Scl/Tal1Q27314921
Stages of embryonic development of the zebrafishQ27860947
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactylyQ28184095
Familial heart disease with skeletal malformationsQ28202984
ChIP-Seq identification of weakly conserved heart enhancersQ28291198
Cell movements during epiboly and gastrulation in zebrafishQ28294886
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Tbx3 is required for outflow tract developmentQ28590164
A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and diseaseQ28594121
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Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.Q33700619
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An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancerQ34085123
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conductionQ34149773
In vivo characterization of a vertebrate ultraconserved enhancerQ34417560
Co-occupancy by multiple cardiac transcription factors identifies transcriptional enhancers active in heart.Q34805195
Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolismQ35195941
Visualization and functional characterization of the developing murine cardiac conduction systemQ36778773
The developmental genetics of congenital heart disease.Q37089736
9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling responseQ39048288
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndromeQ41091241
Transcriptional enhancers in development and diseaseQ41901525
Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axisQ43966599
The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome.Q44132465
The development of the septum primum relative to atrial septation in the mouse heartQ44406790
Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndromeQ47955346
Tbx5 is essential for heart developmentQ47980164
Identification and characterisation of the developmental expression pattern of tbx5b, a novel tbx5 gene in zebrafish.Q51922238
lyl-1 and tal-1/scl, two genes encoding closely related bHLH transcription factors, display highly overlapping expression patterns during cardiovascular and hematopoietic ontogeny.Q52001531
Ventricular expression of tbx5 inhibits normal heart chamber development.Q52167439
Vasculogenesis in the day 6.5 to 9.5 mouse embryo.Q52170686
An SCL 3' enhancer targets developing endothelium together with embryonic and adult haematopoietic progenitors.Q52175329
Several common variants modulate heart rate, PR interval and QRS durationQ57309310
The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4Q57319561
Tbx5 and Tbx4 trigger limb initiation through activation of the Wnt/Fgf signaling cascadeQ60362573
The olfactory placodes of the zebrafish form by convergence of cellular fields at the edge of the neural plateQ74139041
P433issue14
P921main subjectcongenital disorderQ727096
P304page(s)3255-3263
P577publication date2012-04-27
P1433published inHuman Molecular GeneticsQ2720965
P1476titleRegulatory variation in a TBX5 enhancer leads to isolated congenital heart disease
P478volume21

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