Results 81 to 90 of about 16,672 (213)
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot [PDF]
, 2010 Tetralogy of Fallot (TOF), the most frequent cyanotic congenital heart disease, is associated with a wide range of intra- and extracardiac phenotypes. We investigated genotype-phenotype correlation in a large cohort of 230 unselected patients with TOF ...
Hofbeck, M +9 more
core +1 more source
Microbial metabolites in tumor epigenetic regulation
iMeta, Volume 5, Issue 1, February 2026.The gut microbiome modulates tumor epigenetic regulation through bioactive metabolites derived from dietary substrates. Microbiota‐produced SCFAs, secondary BAs, one‐carbon metabolites, and tryptophan‐derived ligands regulate histone acetylation, DNA methylation, and chromatin remodeling via HDAC, DNMT, AhR, and metabolic cofactor‐dependent pathways ...
Wangzheqi Zhang +31 more
wiley +1 more source
Molecular Cytogenetics, 2011 Background Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of ...
Papadopoulou Anna +12 more
doaj +1 more source
Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. [PDF]
, 2014 Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA). Slc4a4 encodes the electrogenic sodium base transporter NBCe1 that is involved in transcellular base transport and pH regulation during amelogenesis.
Kurtz, Ira, Paine, Michael L, Wen, Xin
core +2 more sources
Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley +1 more source
DiGeorge Syndrome Associated with Azoospermia: First case in the literature
Urology Research and Practice, 2019 DiGeorge syndrome (DGS) is one of the most frequently seen chromosomal abnormalities. The major genetic cause of DGS is a microdeletion on chromosome 22q11.2. Majority of the cases are diagnosed during their childhood.
Ayşegül Özcan, Yavuz Şahin
doaj +1 more source
Progress in RNA‐Targeted Therapeutics for Human Diseases
MedComm, Volume 7, Issue 2, February 2026.RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang +10 more
wiley +1 more source
The rarest aortic arch anomaly : a case report of asymptomatic isolation of the subclavian artery [PDF]
, 2017 We present a rare case of isolated right subclavian artery arising from a right-sided patent arterial duct in a patient with DiGeorge syndrome, diagnosed on cardiac CT, along with potential complications and management approaches.peer ...
Borg, Alexander +4 more
core
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
core +2 more sources