Results 21 to 30 of about 520 (132)

Force-Sarcomere Length Relations in Patients with Thin Filament Myopathy Caused by Mutations in NEB, ACTA1, TPM2, TPM3, KBTBD13, KLHL40 and KLHL41 [PDF]

Biophysical Journal, 2015
Background: Mutations in NEB, ACTA1, TPM2, TPM3, KBTBD13, KLHL40 and −41 lead to thin filament myopathies, such as nemaline myopathy, congenital fiber type disproportion and cap disease. A hallmark feature of these myopathies is muscle weakness. Here, we aimed to elucidate whether mutations in NEB, ACTA1, TPM2, TPM3, KBTBD13, KLHL40 and KLHL41 affect ...
Joureau, Barbara, de Winter, J.M., Pappas, Christopher T., Malfatti, Edoardo, Beggs, Alan, Clarke, Nigel, Romero, Norma, Gregorio, Carol, Granzier, Henk, Stienen, Ger J.M., Ottenheijm, Coen C.A.   +10 more
core   +4 more sources

Acute sprint exercise transcriptome in human skeletal muscle. [PDF]

PLoS ONE, 2019
AIM:To examine global gene expression response to profound metabolic and hormonal stress induced by acute sprint exercise. METHODS:Healthy men and women (n = 14) performed three all-out cycle sprints interspersed by 20 min recovery.
Hakan Claes Rundqvist, Andreas Montelius, Ted Osterlund, Barbara Norman, Mona Esbjornsson, Eva Jansson   +5 more
doaj   +3 more sources

Transcriptome Analysis Reveals the Age-Related Developmental Dynamics Pattern of the Longissimus Dorsi Muscle in Ningxiang Pigs. [PDF]

Genes (Basel), 2023
The growth and development of the Longissimus Dorsi muscle are complex, playing an important role in the determination of pork quality. The study of the Longissimus Dorsi muscle at the mRNA level is particularly crucial for finding molecular approaches ...
Liufu S, Lan Q, Liu X, Chen B, Xu X, Ai N, Li X, Yu Z, Ma H.   +8 more
europepmc   +3 more sources

KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate

Journal of Pediatric Neurosciences, 2019
The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and congenital fiber-type disproportion based on major ...
Avasthi, Kapil K., Agarwal, Sarita, Panigrahi, Inusha   +2 more
openaire   +4 more sources

Additional file 1 of Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8 [PDF]

, 2022
Additional file 1. Table S1. Estimated pathogenic variants in KLHL40 in our local database on ACMG guidelines. Table S2. Estimated pathogenic or likely pathogenic variants in KLHL40 in Chigene database on ACMG guidelines.
Yuan, Haiming, Wang, Qingming, Zeng, Xiumei, He, Peiqing, Xu, Wanfang, Guo, Hongmei, Liu, Yanhui, Lin, Yangyang   +7 more
openaire   +2 more sources

Epigenetics of Muscle- and Brain-Specific Expression of KLHL Family Genes [PDF]

International Journal of Molecular Sciences, 2020
KLHL and the related KBTBD genes encode components of the Cullin-E3 ubiquitin ligase complex and typically target tissue-specific proteins for degradation, thereby affecting differentiation, homeostasis, metabolism, cell signaling, and the oxidative ...
Melanie Ehrlich, Carl Baribault, Kenneth C. Ehrlich   +2 more
core   +2 more sources

Status Dystonicus in Children: Is it more Common than we Realize? [PDF]

Mov Disord Clin Pract
Abstract Background Status dystonicus (SD) is the most severe form of dystonia, affecting predominantly children. SD is thought to be rare, but the incidence is unknown. Objective We aimed to: (1) assess the number of admissions involving SD (2) describe complications/intensive care unit (ICU) transfers, and (3) evaluate whether these changed with ...
Al Azri N, Vogt LM, LeBlanc-Millar A, Breitbart S, Fasano A, Ibrahim GM, Gorodetsky C.   +6 more
europepmc   +2 more sources

Characteristics of Transcriptome and Metabolome Concerning Intramuscular Fat Content in Beijing Black Pigs [PDF]

Journal of Agricultural and Food Chemistry, 2023
To study the characteristics of genes and metabolites related to intramuscular fat (IMF) content with less influence by breed background and individual differences, the skeletal muscle samples from 40 Beijing black pigs with either high or low IMF ...
Ligang Wang (347845), Longchao Zhang, Xinhua Hou, Lixian Wang (465239), Man Yang (221504), Naiqi Niu (17112914), Renda Hou (17180603), Run Zhang, Lijun Shi (2053708), Fuping Zhao, Liyu Yang (818717), Wencheng Zong (8025542), Man Yang, Xiaoqing Wang, Fuping Zhao (389140), Ligang Wang, Xinhua Hou (108350), Naiqi Niu, Huihui Li, Xiaoqing Wang (514179), Lixian Wang, Liyu Yang, Xin Liu, Run Zhang (504646), Renda Hou, Huihui Li (227521), Longchao Zhang (465233), Xin Liu (43569), Wencheng Zong, Lijun Shi   +29 more
core   +2 more sources

Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature

Clinical and Experimental Obstetrics & Gynecology, 2020
Objective: In this article we present a case of fetal nemaline myopathy (NM) diagnosed by whole-exome sequencing (WES) and confirmed by fetal muscular pathology, and we review the clinical, pathological, and genetic characteristics of congenital NM ...
Q.C. Wu, L. Sun, Y.S. Xu, X.M. Yang, L.K. Zheng   +4 more
doaj   +2 more sources

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. [PDF]

Case Rep Neurol Med
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Posa A, Kornhuber M.
europepmc   +2 more sources