Zobrazeno 1 - 10
of 3 321
pro vyhledávání: '"Single gene"'
Autor:
Qinlin Huang, Juan Wen, Hongyun Zhang, Yanling Teng, Wen Zhang, Huimin Zhu, Desheng Liang, Lingqian Wu, Zhuo Li
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-12 (2024)
Abstract Background This study aimed to screen southern and southwestern Chinese individuals using expanded carrier screening (ECS), which explores the carrier status of recessively inherited diseases in southern and southwestern China, evaluates the
Externí odkaz:
https://doaj.org/article/6862613dd1a843ef91254a2c3db1d6d8
Autor:
Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M
Publikováno v:
The Application of Clinical Genetics, Vol Volume 17, Pp 151-158 (2024)
Lamia K Alshamlani,1 Dana S Alsulaim,1 Raghad S Alabbad,1 Ahad A Alhoshan,1 Joud F Alkhoder,1 Norah S Alsaleh,2 Mohammed Almannai,1– 3 Faroug Ababneh,2 Manal Algattan,4 Lojain Alsini,4 Abdulrahman Faiz Alswaid,2 Wafaa M Eyaid,1– 3 Fuad Al Mutairi
Externí odkaz:
https://doaj.org/article/f116f5e009874c479d34b9dea1462e8b
Publikováno v:
Zhongguo linchuang yanjiu, Vol 37, Iss 6, Pp 830-834 (2024)
The genetic mechanism of congenital heart disease (CHD) is complex and currently lacks a clear understanding. Literature studies on CHD often report the presence of concurrent extracardiac anomalies, but since the majority of CHD cases are isolated,
Externí odkaz:
https://doaj.org/article/b98f733b135c4731acd86b12c3439198
Autor:
Kyle C. Strickland, Mary K. Nesline, Rebecca A. Previs, Heidi Ko, Maureen Cooper, Jennifer R. Rushton, Zachary D. Wallen, Sarabjot Pabla, Jeffrey M. Conroy, Mark Sausen, Kamal S. Saini, Luca Cantini, Taylor J. Jensen, Brian J. Caveney, Marcia Eisenberg, Eric A. Severson, Shakti Ramkissoon
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
Clinical management of non-small cell lung cancer (NSCLC) requires accurate identification of tumor-specific genetic alterations to inform treatment options. Historically, providers have relied on single-gene testing (SGT) for actionable variants due
Externí odkaz:
https://doaj.org/article/5dc5490c081441c7a29a516266cefd56
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-10 (2024)
Abstract Background Autophagy-related genes (ATGs), associated with autophagy, contribute to the pathogenesis of many illnesses, including cancer. ATGs’ role in breast cancer (BC) is still under investigation. Therefore, the current study aimed to
Externí odkaz:
https://doaj.org/article/57138703fa1d48dab8c1901dfc1b31be
Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population
Autor:
Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background To explore the clinical application value of pre‐conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age. Methods The results of genetic testing of infertile parents who underwent
Externí odkaz:
https://doaj.org/article/e406887d5fc946f58c3a76bbf1a79d2b
Autor:
Chih-Ping Chen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 1, Pp 19-21 (2024)
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic ban
Externí odkaz:
https://doaj.org/article/681dbecfa326466ca156dcaf0de70ac9
Publikováno v:
Journal of Fungi, Vol 10, Iss 7, p 492 (2024)
Mercury (Hg) is a global pollutant and a bioaccumulative toxin that seriously affects the environment. Though increasing information has been obtained on the mechanisms involved in mercury toxicity, there is still a knowledge gap between the adverse
Externí odkaz:
https://doaj.org/article/944088ff534e4069983f18fd34fdb93f
Autor:
Janet P. Slovin, Jasmine C. Booker
Publikováno v:
HortScience, Vol 59, Iss 4 (2024)
Mutants are useful for determining the genes that underlie a given trait. This information is highly useful for developing molecular markers for breeding and is the foundational knowledge required for future genomic crop improvements. The dessert str
Externí odkaz:
https://doaj.org/article/d25fd66bc734484997530d5df49ef01a
Autor:
Janet P. Slovin, Laura E. Dougherty
Publikováno v:
HortScience, Vol 58, Iss 12 (2023)
Knowledge of the genes underlying a given trait is highly useful for developing molecular markers for breeding and is the foundation for future genomic crop improvements. The cultivated strawberry, F. ×ananassa, is a valuable horticultural crop. Gen
Externí odkaz:
https://doaj.org/article/7cde425c217f4193bbba5f8758330e32