Results 31 to 40 of about 640,277 (286)

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case Reports in Neurological Medicine, 2018
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen   +2 more
doaj   +1 more source

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

SAGE Open Medical Case Reports, 2022
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, Ni Zhang   +4 more
doaj   +1 more source

F8 gene mutation spectrum in severe hemophilia A with inhibitors: A large cohort data analysis from a single center in China

Research and Practice in Thrombosis and Haemostasis, 2022
Introduction Type of F8 gene mutation is the most important risk factor for inhibitor development in people with severe hemophilia A. However, there are few large cohort studies on the F8 mutation spectrum of people with severe hemophilia A with ...
Jie Sun, Zekun Li, Kun Huang, Di Ai, Gang Li, Xingjuan Xie, Hao Gu, Guoqing Liu, Yingzi Zhen, Zhenping Chen, Runhui Wu   +10 more
doaj   +1 more source

P63 and P73 Activation in Cancers with p53 Mutation

Biomedicines, 2022
The members of the p53 family comprise p53, p63, and p73, and full-length isoforms of the p53 family have a tumor suppressor function. However, p53, but not p63 or p73, has a high mutation rate in cancers causing it to lose its tumor suppressor function.
Bi-He Cai, Yun-Chien Hsu, Fang-Yu Yeh, Yu-Rou Lin, Rui-Yu Lu, Si-Jie Yu, Jei-Fu Shaw, Ming-Han Wu, Yi-Zhen Tsai, Ying-Chen Lin, Zhi-Yu Bai, Yu-Chen Shih, Yi-Chiang Hsu, Ruo-Yu Liao, Wei-Hsin Kuo, Chao-Tien Hsu, Ching-Feng Lien, Chia-Chi Chen   +17 more
doaj   +1 more source

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

BMC Ophthalmology, 2021
Background To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate ...
Wei Liu, Ruru Guo, Huijie Hao, Jian Ji
doaj   +1 more source

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Sarah Hohmann, Hanspeter Goldschmidt, Hohmann, Sarah, Thomas Gudermann, Remschmidt, Helmut, Geller, Frank, Wolfgang Siegfried, Hebebrand, Johannes, Schäfer, Helmut, Anke Hinney, Siegfried, Wolfgang, Brokamp, Britta, Hess, Claudia, Hinney, Anke, Wermter, Anne-Kathrin, Goldschmidt, Hanspeter, Frank Geller, Constanze Vogel, Johannes Hebebrand, Britta Brokamp, Vogel, Constanze, Helmut Remschmidt, Gudermann, Thomas, Claudia Hess, Anne-kathrin Wermter   +24 more
core   +1 more source

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

BMC Medical Genetics, 2012
Background Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb.
Jamsheer Aleksander, Sowińska Anna, Kaczmarek Leszek, Latos-Bieleńska Anna   +3 more
doaj   +1 more source

Stops making sense: translational trade-offs and stop codon reassignment [PDF]

, 2011
Background Efficient gene expression involves a trade-off between (i) premature termination of protein synthesis; and (ii) readthrough, where the ribosome fails to dissociate at the terminal stop. Sense codons that are similar in sequence to stop codons
Steven C Le Comber, Johnson, Louise J, Johnson, LJ, Le Comber Steven C, Nichols Richard A, Louise J Johnson, Polly, PD, Lichtenstein, CP, Polly p David, Cotton, James A., Le Comber, SC, p David Polly, Le Comber, Steven C., Conrad P Lichtenstein, Cotton, JA, Nichols, RA, Lichtenstein Conrad P, James A Cotton, Elgar, GS, Elgar, Greg S., Lichtenstein, Conrad P., Elgar Greg S, Nichols, Richard A., Greg S Elgar, Cotton James A, Johnson Louise J, Johnson, Louise J., Richard A Nichols, Polly, P. David   +28 more
core   +2 more sources

NMD inhibition fails to identify tumour suppressor genes in microsatellite stable gastric cancer cell lines

BMC Medical Genomics, 2009
Background Gastric cancers frequently show chromosomal alterations which can cause activation of oncogenes, and/or inactivation of tumour suppressor genes. In gastric cancer several chromosomal regions are described to be frequently lost, but for most of
Ylstra Bauke, Wiel Mark, Duval Alex, El-Bchiri Jamila, Tijssen Marianne, Buffart Tineke E, Meijer Gerrit A, Carvalho Beatriz   +7 more
doaj   +1 more source

Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. [PDF]

PLoS Genetics, 2007
White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses.
Bianca Haase, Samantha A Brooks, Angela Schlumbaum, Pedro J Azor, Ernest Bailey, Ferial Alaeddine, Meike Mevissen, Dominik Burger, Pierre-André Poncet, Stefan Rieder, Tosso Leeb   +10 more
doaj   +1 more source