Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Identification of Novel Gene Regulatory Networks for Dystrophin Protein in Vascular Smooth Muscle Cells by Single-Nuclear Transcriptome Analysis

Autor: Yan Shen, Il-man Kim, Yaoliang Tang

Publikováno v: Cells, Vol 12, Iss 6, p 892 (2023)

Duchenne muscular dystrophy is an X-linked recessive disease caused by mutations in dystrophin proteins that lead to heart failure and respiratory failure. Dystrophin (DMD) is not only expressed in cardiomyocytes and skeletal muscle cells, but also i

Externí odkaz: https://doaj.org/article/27ed66b2c6a34d15aea24d00be08618d

KCNQ5 and C9orf50 Methylation in Stool DNA for Early Detection of Colorectal Cancer

Autor: Yaping Cao, Guodong Zhao, Mufa Yuan, Xiaoyu Liu, Yong Ma, Yang Cao, Bei Miao, Shuyan Zhao, Danning Li, Shangmin Xiong, Minxue Zheng, Sujuan Fei

Publikováno v: Frontiers in Oncology, Vol 10 (2021)

BackgroundAberrant DNA methylation has emerged as a class of promising biomarkers for early colorectal cancer (CRC) detection, but the performance of methylated C9orf50 and methylated KCNQ5 in stool DNA has never been evaluated.MethodsMethylation spe

Externí odkaz: https://doaj.org/article/440e437781474d8c88937e11d20c6f0e

Human KCNQ5 de novo Mutations Underlie Epilepsy and Intellectual Disability

Autor: Aguan D. Wei, Paul Wakenight, Theresa A. Zwingman, Angela M. Bard, Nikhil Sahai, Marjolein H. Willemsen, Helenius J. Schelhaas, Alexander P. A. Stegmann, Judith S. Verhoeven, Stella A. de Man, Marja W. Wessels, Tjitske Kleefstra, Deepali N. Shinde, Katherine L. Helbig, Alice Basinger, Victoria F. Wagner, David Rodriguez-Buritica, Emily Bryant, John J. Millichap, Kathleen J. Millen, William B. Dobyns, Jan-Marino Ramirez, Franck K. Kalume

Publikováno v: Journal of Neurophysiology, 128(1), 40-61. American Physiological Society
Journal of Neurophysiology, 128, 40-61
Journal of Neurophysiology, 128, 1, pp. 40-61

We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functiona

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::642861c243e1b13561f237e928630bf1
https://doi.org/10.1152/jn.00509.2021

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.