Results 101 to 110 of about 8,343 (220)
Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses
Dermatologic Therapy, Volume 2026, Issue 1, 2026.Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang +4 more
wiley +1 more source
Clinical Diabetes and Endocrinology, 2019 Background The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart ...
Raad A. Haddad +2 more
doaj +1 more source
Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis
Life Science Alliance, 2020 This study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism CRK and CRKL ( CRK-like ) encode adapter proteins with
Akira Imamoto +13 more
doaj +1 more source
Dial M(RF) for myogenesis [PDF]
, 2013 The transcriptional regulatory network that controls the determination and differentiation of skeletal muscle cells in the embryo has at its core the four myogenic regulatory factors (MRFs) Myf5, MyoD, Mrf4 and MyoG.
Carvajal, Jaime J. +2 more
core +1 more source
Genetics Research , Volume 2026, Issue 1, 2026.Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the development of the disease. Owing to the high heritability of NSOC, identifying susceptibility genes and loci is a central focus of ...
Haolang Zhao +4 more
wiley +1 more source
Gene expression profiling in the developing secondary palate in the absence of Tbx1 function
BMC Genomics, 2018 Background Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate.
Maria Zoupa +5 more
doaj +1 more source
Caloric Restriction Reprograms Adipose Tissues in Rhesus Monkeys
Aging Cell, Volume 24, Issue 12, December 2025.Here we show shared and depot‐specific adaptations to life‐long CR in subcutaneous and visceral adipose depots from advanced‐age male rhesus monkeys. Transcriptomics reveal differences between the depots, as well as shared and distinct CR‐responsive pathways.
Josef P. Clark +6 more
wiley +1 more source
Chick Lrrn2, a novel downstream effector of Hoxb1 and Shh, functions in the selective targeting of rhombomere 4 motor neurons [PDF]
, 2009 Background; Capricious is a Drosophila adhesion molecule that regulates specific targeting of a subset of motor neurons to their muscle target. We set out to identify whether one of its vertebrate homologues, Lrrn2, might play an analogous role in the ...
Andrew Lumsden +2 more
core +2 more sources
Familial hypertrophic cardiomyopathy associated with TBX1 variation
European Journal of Medical GeneticsHypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease characterized by significant genetic heterogeneity. While the T-box transcription factor 1 (TBX1) gene is known to cause congenital cardiovascular defects, it has not been previously associated with HCM.Whole-exome sequencing (WES) was performed to identify causative gene ...
Jie Zhang +9 more
openaire +2 more sources
New aspects of genetics and molecular mechanisms on thyroid morphogenesis for the understading of thyroid dysgenesia [PDF]
, 2008 The elucidation of the molecular mechanisms underlying the very early steps of thyroid organogenesis and the etiology of most cases of thyroid dysgenesis are poorly understood.
Maciel, Rui Monteiro de Barros +2 more
core +3 more sources