Zobrazeno 1 - 10
of 157
pro vyhledávání: '"loss‐of‐function variants"'
Autor:
Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, Sandra Mercier, Virginie Vignard, Bertrand Isidor, Sébastien Küry, Frédéric Ebstein
Publikováno v:
Genes and Diseases, Vol 11, Iss 6, Pp 101130- (2024)
The recent advances in high throughput sequencing technology have drastically changed the practice of medical diagnosis, allowing for rapid identification of hundreds of genes causing human diseases. This unprecedented progress has made clear that mo
Externí odkaz:
https://doaj.org/article/4bb0294763224150ab0fc9342a19be84
Autor:
Hong Chen, Suping Zhang, Yunteng Sun, Jiao Chen, Ke Yuan, Ying Zhang, Xiaohong Yang, Xiangquan Lin, Ruimin Chen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Objective Heterozygous loss-of-function variants in the NPR2 gene cause short stature with nonspecific skeletal abnormalities and account for about 2 ~ 6% of idiopathic short stature. This study aimed to analyze and identify pathogenic varia
Externí odkaz:
https://doaj.org/article/33a852a5a6db46ac8de1ade63eba0085
Autor:
Zhou Zhou, Xia Tang, Wen Chen, Qianlong Chen, Bo Ye, Angad S. Johar, Iftikhar J. Kullo, Keyue Ding
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100258- (2024)
Summary: Ebstein’s anomaly, a rare congenital heart disease, is distinguished by the failure of embryological delamination of the tricuspid valve leaflets from the underlying primitive right ventricle myocardium. Gaining insight into the genetic ba
Externí odkaz:
https://doaj.org/article/f1cd320f51a440a9b19942ce3542d159
Autor:
Xia Li, Alexander Ploner, Yunzhang Wang, Jonathan K. L. Mak, Yi Lu, Patrik K. E. Magnusson, Juulia Jylhävä, Sara Hägg
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background C‐reactive protein (CRP) is a sensitive biomarker of inflammation with moderate heritability. The role of rare functional genetic variants in relation to serum CRP is understudied. We aimed to examine gene mutation burden of pro
Externí odkaz:
https://doaj.org/article/b783b457074d4aa093cac96a0c0f3c33
Publikováno v:
The Application of Clinical Genetics, Vol Volume 16, Pp 31-39 (2023)
Ninna Karsbæk Senftleber,1,* Stina Ramne,2,* Ida Moltke,3 Marit Eika Jørgensen,1,4,5 Anders Albrechtsen,3 Torben Hansen,2 Mette K Andersen2 1Clinical Research, Copenhagen University Hospital – Steno Diabetes Center Copenhagen, Herlev, Den
Externí odkaz:
https://doaj.org/article/d93c1ecbd6f8484a8fb856ff32aa43c8
Autor:
Abdulrahman Alasiri, Konrad J. Karczewski, Brian Cole, Bao-Li Loza, Jason H. Moore, Sander W. van der Laan, Folkert W. Asselbergs, Brendan J. Keating, Jessica van Setten
Publikováno v:
BioData Mining, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Background Loss-of-Function (LoF) variants in human genes are important due to their impact on clinical phenotypes and frequent occurrence in the genomes of healthy individuals. The association of LoF variants with complex diseases and trait
Externí odkaz:
https://doaj.org/article/f8e71408467d4ef6916d54391004dd44
Akademický článek
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Autor:
Yu Yao, Dongxiao Qu, Xiaoping Jing, Yuxiang Jia, Qi Zhong, Limin Zhuo, Xingxing Chen, Guoyi Li, Lele Tang, Yudan Zhu, Xuemei Zhang, Yonghua Ji, Zhiping Li, Jie Tao
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2022)
The gene kcnma1 encodes the α-subunit of high-conductance calcium- and voltage-dependent K+ (BK) potassium channel. With the development of generation gene sequencing technology, many KCNMA1 mutants have been identified and are more closely related
Externí odkaz:
https://doaj.org/article/ed9c18b78df443bdb13f3e332175f9f0
Autor:
Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological
Externí odkaz:
https://doaj.org/article/d24638f2efce49c3b8ea400cc414438d
Akademický článek
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