Results 21 to 30 of about 1,974,376 (233)

Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant

Frontiers in Oncology, 2022
Breast cancer gene 1 (BRCA1) and BRCA2 are tumor suppressors involved in DNA damage response and repair. Carriers of germline pathogenic or likely pathogenic variants in BRCA1 or BRCA2 have significantly increased lifetime risks of breast cancer, ovarian
Jun Li, Jun Li, Jun Li, Ping Wang, Cuiyun Zhang, Cuiyun Zhang, Cuiyun Zhang, Sile Han, Han Xiao, Zhiyuan Liu, Xiaoyan Wang, Xiaoyan Wang, Xiaoyan Wang, Weiling Liu, Bing Wei, Bing Wei, Bing Wei, Jie Ma, Jie Ma, Jie Ma, Hongle Li, Yongjun Guo, Yongjun Guo, Yongjun Guo   +23 more
doaj   +1 more source

Capture Sequencing to Explore and Map Rare Casein Variants in Goats

Frontiers in Genetics, 2021
Genetic variations in the four casein genes CSN1S1, CSN2, CSN1S2, and CSN3 have obtained substantial attention since they affect the milk protein yield, milk composition, cheese processing properties, and digestibility as well as tolerance in human ...
Siham A. Rahmatalla, Siham A. Rahmatalla, Danny Arends, Ammar Said Ahmed, Lubna M. A. Hassan, Stefan Krebs, Monika Reissmann, Gudrun A. Brockmann   +7 more
doaj   +1 more source

Pathogenicity of intronic and synonymous variants of ATP7B in Wilson's disease.

Journal of Molecular Diagnostics, 2022
Wilson's disease (WD) is a hereditary disorder of copper metabolism resulting from mutations within ATP7B. Early diagnosis is essential for affected individuals.
Wan-Qing Xu, Rou-Min Wang, Yi Dong, Zhi-Ying Wu   +3 more
semanticscholar   +1 more source

Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants

PLoS ONE, 2022
Neuroblastoma (NBL), one of the main death-causing cancers in children, is known for its remarkable genetic heterogeneity and varied patient outcome spanning from spontaneous regression to widespread disease.
Weronika Przybyła, Kirsti Marie Gjersvoll Paulsen, C. Mishra, S. Nygård, S. Engebretsen, E. Ruud, G. Trøen, K. Beiske, L. O. Baumbusch   +8 more
semanticscholar   +1 more source

Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population

GigaScience, 2021
Background The role of synonymous single-nucleotide variants in human health and disease is poorly understood, yet evidence suggests that this class of “silent” genetic variation plays multiple regulatory roles in both transcription and translation.
Jeffrey Gaither, Grant E. Lammi, James L. Li, David M. Gordon, Harkness C. Kuck, Benjamin J. Kelly, James R. Fitch, P. White   +7 more
semanticscholar   +1 more source

Virtual screening to identify pathogenic functional mutations in the exon of ACTN3 gene, which codes for masseter muscle, thereby affecting mandibular morphology

Journal of Indian Academy of Oral Medicine and Radiology, 2022
Aim: To determine if In silico methods can be used to identify pathogenic non-synonymous variants in the ACTN3 (alpha actinin 3) alpha actinin gene that encodes for alpha actinin 3 three protein employing computational tools.
Vijayashree Priyadharsini Jayaseelan, Ashwin Mathew George, A Sumathi Felicita, Paramasivam Arumugam   +3 more
doaj   +1 more source

Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants

Kidney360, 2021
Key Points Mutations registered in the database for autosomal Alport syndrome do not include synonymous variants. Certain synonymous variants can affect pre-mRNA splicing, and transcript analysis should be carried out to evaluate synonymous variants. Our
Rini Rossanti, T. Horinouchi, Tomohiko Yamamura, C. Nagano, N. Sakakibara, Shinya Ishiko, Yuya Aoto, Atsushi Kondo, Sadayuki Nagai, Eri Okada, Shingo Ishimori, Hiroaki Nagase, Satoshi Matsui, Keiichi Tamagaki, Y. Ubara, Masahiko Nagahama, Yuko Shima, K. Nakanishi, T. Ninchoji, M. Matsuo, K. Iijima, K. Nozu   +21 more
semanticscholar   +1 more source

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

Human Molecular Genetics, 2023
Missense variants in ABCA4 constitute ~50% of causal variants in Stargardt disease (STGD1). Their pathogenicity is attributed to their direct effect on protein function, whilst their potential impact on pre-mRNA splicing disruption remains poorly ...
Melita Kaltak, Z. Corradi, R. W. Collin, J. Swildens, F. Cremers   +4 more
semanticscholar   +1 more source

Synonymous substitution rates predict HIV disease progression as a result of underlying replication dynamics [PDF]

, 2007
Upon HIV transmission, some patients develop AIDS in only a few months, while others remain disease free for 20 or more years. This variation in the rate of disease progression is poorly understood and has been attributed to host genetics, host immune ...
Pybus, OG, Drummond Alexei J, Lemey, P, Drummond, AJ, Kosakovsky Pond, Sergei L., Shapiro, B, Alexei J. Drummond, Pond, Sergei L. Kosakovsky|, Shapiro Beth, Helena Barroso, Kosakovsky Pond Sergei L, Pybus Oliver G, Beth Shapiro, Rambaut, A, Barroso, H, Philippe Lemey, Shapiro, Beth, Sergei L Kosakovsky Pond, Alexei J Drummond, Nuno Taveira, Rambaut Andrew, Drummond, Alexei J., Rambaut, Andrew, Kosakovsky Pond, SL, Pybus, Oliver G., Lemey Philippe, Andrew Rambaut, Lemey, Philippe, Barroso, Helena, Sergei L. Kosakovsky Pond, Oliver G. Pybus, Taveira Nuno, Oliver G Pybus, Barroso Helena, Pond, Sergei L. Kosakovsky, Taveira, N, Pond, SLK, Taveira, Nuno   +37 more
core   +1 more source

A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report

Frontiers in Pediatrics, 2020
Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of clinical features, including muscle weakness, hypoglycemia, metabolic acidosis, and multisystem dysfunctions.
Guorui Hu, Jingxia Zeng, Chunli Wang, Wei Zhou, Zhanjun Jia, Jun Yang, Bixia Zheng   +6 more
doaj   +1 more source