Results 71 to 80 of about 6,776,369 (200)

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, Enomoto, Gabriel, Jonathan I. Lake, Kapur, Kapur, Lin, Meijering, Natarajan, Olga A. Tusheva, Robert O. Heuckeroth   +10 more
core   +2 more sources

Use of adipose derived stem cells in Treacher Collins syndrome [PDF]

, 2023
Objective: Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development. TCS occurs with an incidence of 1:50,000, and more than 60% of TCS cases have no previous family history and arise as the result of de novo mutations ...
Costa, A L, Giacomello, M, Greco Lucchina, A, Mortellaro, C, Tiengo, E, Trentini, M, Zanolla, I, Zanotti, F, Zavan, B   +8 more
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, 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

Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation

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, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A. Trainor   +4 more
doaj   +1 more source

2278

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, Matt Velinder, Chase Miller, Tony Di Sera, Yi Qiao, Dave Viskochil, Gabor Marth   +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

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

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

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution [PDF]

, 2017
While synonymous single-nucleotide variants (sSNVs) have largely been unstudied, since they do not alter protein sequence, mounting evidence suggests that they may affect RNA conformation, splicing, and the stability of nascent-mRNAs to promote various ...
Cooper, David, Feng, Weixing, Li, Meng, Lin, Hai, Liu, Yunlong, Mort, Matthew, Rao, Xi, Wang, Yadong, Wang, Yue, Wells, Clark, Yang, Yuedong, Zhang, Xinjun, Zhou, Yaoqi   +12 more
core   +2 more sources

Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants [PDF]

, 2017
Synonymous single-nucleotide variants (SNVs), although they do not alter the encoded protein sequences, have been implicated in many genetic diseases. Experimental studies indicate that synonymous SNVs can lead to changes in the secondary and tertiary ...
1000 Genomes Project Consortium, Adzhubei, Alipanahi, Altschul, Bentwich, Bermejo-Das-Neves, Brest, Buratti, Buske, Capra, Carlini, Chamary, Cortes, Cáceres, Davydov, Deaton, DeLong, Douville, Dreyfuss, Duan, Fairbrother, Folkman, Folkman, Gartner, Grimm, Hajdin, Heffernan, Hershberg, Ho, Hu, Hunt, Hurst, Karolchik, Kimchi-Sarfaty, Kircher, Kirchner, Kudla, Li, Lorenz, Macaya, Markham, Meinshausen, Miao, Miller, Montera, Mort, Mortimer, Neale, Niroula, Parmley, Plotkin, Pollard, Pruitt, Remmert, Rhodes, Rudolph, Samocha, Sauna, Savisaar, Schwarz, Seetin, Shabalina, Sharp, Shihab, Simone, Smith, Stark, Stenson, Stergachis, Supek, Todd, UniProt Consortium, Vihinen, Wan, Wang, Whitney, Wu, Xiong, Yang, Yeo, Zhang, Zhang, Zhang, Zhao, Zhou, Zhu   +85 more
core   +3 more sources