Results 71 to 80 of about 2,522,918 (175)

Additional file 8 of FGF12 is a novel component of the nucleolar NOLC1/TCOF1 ribosome biogenesis complex

, 2022
Additional file 7: Fig. S6. Effect of NOLC1 and TCOF1 knock-down on the nucleolar localization of FGF12 and its interaction with NOLC1 and TCOF1. HEK 293 cells were transfected with NOLC1/TCOF1-targeting siRNA or scramble siRNA (control).
Martyna Biadun (14149020), Daniel Krowarsch (14149017), Malgorzata Zakrzewska (14149026), Jacek Otlewski (14149023), Martyna Sochacka (14149008), Radoslaw Karelus (14149011), Lukasz Opalinski (14149014)   +6 more
core   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +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, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

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

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome

BMC Medical Genomics
Background Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole ...
Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren   +7 more
doaj   +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, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.

PLoS Genetics, 2012
The cerebral cortex is a specialized region of the brain that processes cognitive, motor, somatosensory, auditory, and visual functions. Its characteristic architecture and size is dependent upon the number of neurons generated during embryogenesis and ...
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor   +3 more
doaj   +1 more source

Toward Next‐Generation Teratology: Understanding Developmental Vulnerability Through Evolutionary and Comparative Genomics

Congenital Anomalies, Volume 66, Issue 1, January/February 2026.
ABSTRACT Teratology, the study of congenital anomalies, has developed from a descriptive discipline into a mechanistic science focused on the proximate causes of developmental defects, meaning how such anomalies arise during development. However, a comprehensive understanding requires not only this mechanistic insight but also an evolutionary ...
Tetsuo Kon
wiley   +1 more source

Rps19R67∆ mutation creates a model of Diamond–Blackfan anemia and reveals downstream mediators of p53 pathway

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, Tereza Turková, Björn Schuster, Jan Prochazka, František Spoutil, Kristína Jamrichová, Markéta Holečková, Karel Chalupský, Inken M. Beck, Jesús Ruberte, Matilde Vale, Lukáš Čermák, Tomáš Stopka, Radislav Sedlacek   +13 more
wiley   +1 more source