Results 71 to 80 of about 5,428 (208)
Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
An Outflow Tract Myocardium‐Specific Enhancer at the Sema3c Locus During Heart Development
Genes to Cells, Volume 31, Issue 4, July 2026.Focusing on an OFT‐specific differentially accessible region, in the present study, we defined a distal OFT myocardial enhancer whose activity depends on GATA binding sites. This enhancer provides insight into the mechanisms underlying spatially restricted Sema3c expression involved in OFT development.
Yunce Wang +5 more
wiley +1 more source
The TBX1 Transcription Factor in Cardiac Remodeling After Myocardial Infarction [PDF]
, 2016 Introduction and objectives: The transcription factor TBX1 plays an important role in the embryonic development of the heart. Nothing is known about its involvement in myocardial remodeling after acute myocardial infarction (AMI) and whether its ...
Fernandez del Palacio, Maria J +8 more
core +1 more source
A Functionally Conserved Enhancer is Critical for PGC1A Expression and Thermogenesis in Brown Fat
Advanced Science, Volume 13, Issue 31, 4 June 2026.An evolutionarily conserved enhancer controls PGC1A expression and thermogenic activation in brown adipose tissue. Integrative multi‐omics analyses identify two BAT‐specific enhancers, with PGC1A‐En1 functioning as the dominant regulatory element that maintains thermogenic capacity across species.
Duo Su +10 more
wiley +1 more source
tbx1 expression and heart looping defects in tbx1−/− embryos.
, 2013 (A) cmlc2 ISH in tbx1−/− mutants and WT siblings at specification (14 somites), fusion (21 somites), linear heart tube (24 hpf), jogging (30–36 hpf) stages.
Priya Choudhry (393639) +1 more
core +1 more source
Pharmacogenomics and Personalized Medicine, 2022 Safiah Alhazmi,1 Maryam Alzahrani,1 Reem Farsi,1 Mona Alharbi,1 Khloud Algothmi,1 Najla Alburae,1 Magdah Ganash,1 Sheren Azhari,1 Fatemah Basingab,1 Asma Almuhammadi,1 Amany Alqosaibi,2 Heba Alkhatabi,3,4 Aisha Elaimi,3,4 Mohammed Jan,5 Hesham M ...
Alhazmi S +16 more
doaj
Tbx1 and Jag1 act in concert to modulate the fate of neurosensory cells of the mouse otic vesicle
Biology Open, 2017 The domain within the otic vesicle (OV) known as the neurosensory domain (NSD), contains cells that will give rise to the hair and support cells of the otic sensory organs, as well as the neurons that form the cochleovestibular ganglion (CVG).
Stephania Macchiarulo, Bernice E. Morrow
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang +6 more
wiley +1 more source
Human Mutations in Mouse Tbx1.
, 2014 A: The position of the three known mutations in TBX1 in human patients are shown with respect to its domain structure [19]–[21]. The three mutations lie within the region that was cloned to generate the GST-TBX1 fusion protein.
Raquel Castellanos (559734) +4 more
core +1 more source
PLoS Genetics, 2012 Mutations of the Wnt5a gene, encoding a ligand of the non-canonical Wnt pathway, and the Ror2 gene, encoding its receptor, have been found in patients with cardiac outflow tract defects. We found that Wnt5a is expressed in the second heart field (SHF), a
Li Chen +5 more
doaj +1 more source