MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1 [PDF]
, 2016 Congenital heart defects are the most common birth defects in humans, and those that affect the proper alignment of the outflow tracts and septation of the ventricles are a highly significant cause of morbidity and mortality in infants.
Barnes, Ralston M. +9 more
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A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness [PDF]
Journal of the Endocrine Society, 2019 Abstract Background The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome.
Rabih Halwani +8 more
openaire +3 more sources
Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2018 Most cases of autosomal dominant isolated hypoparathyroidism are caused by gain-of-function mutations in CASR or GNA11 or dominant negative mutations in GCM2 or PTH.To identify the genetic etiology for dominantly transmitted isolated hypoparathyroidism in two multigenerational families with 14 affected family members.We performed whole exome sequencing
Dong Li +8 more
openaire +2 more sources
TBX1 Represses Vegfr2 Gene Expression and Enhances the Cardiac Fate of VEGFR2+ Cells.
PLoS ONE, 2015 The T-box transcription factor TBX1 has critical roles in maintaining proliferation and inhibiting differentiation of cardiac progenitor cells of the second heart field (SHF).
Gabriella Lania +2 more
doaj +1 more source
Chromatin and Transcriptional Response to Loss of TBX1 in Early Differentiation of Mouse Cells
Frontiers in Cell and Developmental Biology, 2020 The T-box transcription factor TBX1 has critical roles in the cardiopharyngeal lineage and the gene is haploinsufficient in DiGeorge syndrome, a typical developmental anomaly of the pharyngeal apparatus. Despite almost two decades of research, if and how
Andrea Cirino +11 more
doaj +1 more source
Endothelium in the pharyngeal arches 3, 4 and 6 is derived from the second heart field. [PDF]
, 2017 Oxygenated blood from the heart is directed into the systemic circulation through the aortic arch arteries (AAAs). The AAAs arise by remodeling of three symmetrical pairs of pharyngeal arch arteries (PAAs), which connect the heart with the paired dorsal ...
Astrof, Sophie +5 more
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Transposisi Arteri Besar dan mutasi gen TBX1
Sari Pediatri, 2016 Latar belakang. Transposisi arteri besar (TAB) adalah suatu penyakit jantung bawaan (PJB) yang termasuk dalam malformasi konotrunkal. Kelainan terasebut ditemukan sekitar 5% dari seluruh PJB.
Sri Endah Rahayuningsih
doaj +1 more source
22q11.2 deletion syndrome [PDF]
, 2015 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S. +11 more
core +1 more source
Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. [PDF]
PLoS Genetics, 2009 Point mutations in TBX1 can recapitulate many of the structural defects of 22q11 deletion syndromes (22q11DS), usually associated with a chromosomal deletion at 22q1.2.
Murim Choi, John Klingensmith
doaj +1 more source
Transient but not genetic loss of miR-451 attenuates the development of pulmonary arterial hypertension [PDF]
, 2013 <b>Rationale:</b> MicroRNAs are small non-coding RNAs involved in the regulation of gene expression and have recently been implicated in the development of pulmonary arterial hypertension (PAH).
Baker, Andrew H. +5 more
core +2 more sources