Results 71 to 80 of about 2,358 (194)
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, Volume 16, Issue 3, Page 561-569, March 2026.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Nature Communications, 2016 The TCOF1 gene is mutated in Treacher Collin's syndrome, a congenital craniofacial syndrome. Here, the authors show that Tcof1loss-of-function results in oxidative stress induced DNA damage and neuroepithelial cell death, and addition of antioxidants to ...
Daisuke Sakai +4 more
doaj +1 more source
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
Frontiers in Genetics, 2020 BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech +12 more
doaj +1 more source
Hirschsprung-like disease is exacerbated by reduced de novo GMP synthesis [PDF]
, 2013 Hirschsprung disease (HSCR) is a partially penetrant oligogenic birth defect that occurs when enteric nervous system (ENS) precursors fail to colonize the distal bowel during early pregnancy.
Brittany L. Graham +10 more
core +2 more sources
Journal of Clinical and Translational Science, 2017 OBJECTIVES/SPECIFIC AIMS: The objective of the study was 2-fold; to identify potentially deleterious alleles in a child with Treacher Collins syndrome, and; to demonstrate the value of the iobio analysis platform for intuitively and rapidly analyzing ...
Alistair N. Ward +6 more
doaj +1 more source
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome [PDF]
, 2017 Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often associated with an increased risk of cancer. Ribosomes are the essential macromolecular machines that
Warren, AJ
core +1 more source
Genetic Landscape of Robin Sequence: A Systematic Review
Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde +8 more
wiley +1 more source
HemaSphere, Volume 10, Issue 1, January 2026.Abstract Diamond–Blackfan anemia (DBA) is a rare bone marrow failure syndrome accompanied by cardiovascular, skeletal, and urogenital abnormalities. Most of the affected individuals carry mutations in ribosomal proteins, including RPS19, a component of the 40S ribosomal subunit.
Juraj Kokavec +13 more
wiley +1 more source
THE INFLUENCE OF FGFR1 VARIANTS ON NORMAL HUMAN CRANIOFACIAL SHAPE [PDF]
, 2015 The factors influencing the morphology of the human face are of interest to researchers in a variety of different fields. Craniofacial morphology is modified by both genetic and epigenetic events, and factors influencing craniofacial morphology include ...
Kalra, Varun +4 more
core