Results 1 to 10 of about 52 (44)

Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8.

Molecular Genetics & Genomic Medicine
Background Nemaline myopathy (NEM) is a rare congenital muscular disorder characterized by slow progression or static neuromuscular symptoms, which is mainly caused by variants in genes encoding the myofilament protein of skeletal muscle sarcomere.
Jianlong Zhuang, Yuying Jiang
exaly   +3 more sources

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

Orphanet Journal of Rare Diseases, 2022
Background Homozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokinesia, joint contractures ...
Haiming Yuan, Yangyang Lin
exaly   +2 more sources

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Molecular Genetics & Genomic Medicine, 2021
Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth.
Yiping Shen, Zailong Qin, Yi Sheng
exaly   +2 more sources

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

Frontiers in Genetics, 2023
Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments.
Noureddine Ben Khalaf, Hisham Y Hassan
exaly   +3 more sources

Case Report: Prenatal Diagnosis of Nemaline Myopathy

Frontiers in Pediatrics, 2022
Nemaline myopathy (NM) is a rare, hereditary heterogeneous myopathy. Fetal NM has a more severe disease course and a poorer prognosis and is usually lethal during the first few months of life.
Shi Zeng, Ganqiong Xu
exaly   +3 more sources

Post-infarction KLHL40-mediated regulation of cardiac sarcomeric integrity and function. [PDF]

PeerJ
Background Cardiac sarcomeric remodeling after myocardial infarction (MI) plays a pivotal role in post-injury cardiac dysfunction, yet the molecular mechanisms governing this process remain incompletely understood.
Xiao Yu, Xuexue Liu, Jian Zhao, Xiaopeng Zhang, Wei Song, Xin Kong, Rui Zhang, Jianrong Bao, Mingxiu Dai, Hazrat Bilal, Chang Shi, Jing Li, Lei Sun   +12 more
exaly   +3 more sources

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing [PDF]

Neonatal Medicine, 2021
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset.
Yoong-a Suh, Young Bae Sohn, Moon Sung Park, Jang Hoon Lee   +3 more
doaj   +1 more source

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

eLife, 2023
Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy.
Arian Mansur, Remi Joseph, Euri S Kim, Pierre M Jean-Beltran, Namrata D Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P Milev, Hashem A Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A Cole, Steven A Carr, Vandana A Gupta   +17 more
doaj   +1 more source

Construction and analysis of a competing endogenous RNA network to reveal potential prognostic biomarkers for Oral Floor Squamous Cell Carcinoma

PLoS ONE, 2020
Background Patients diagnosed with Oral Floor Squamous Cell Carcinoma (OFSCC) face considerable challenges in physiology and psychology. This study explored prognostic signatures to predict prognosis in OFSCC through a detailed transcriptomic analysis ...
Wenjing Zhang, Shuai Xu, Laner Shi, Zhangzhi Zhu, Xinying Xie, Esra Bozgeyik   +5 more
doaj   +2 more sources

Genes ingenuity pathway analysis unveils smoothelin‐like 1 (SMTNL1) as a key regulatory protein involved in sodium pentobarbital‐induced growth inhibition in breast cancer

Pharmacology Research &Perspectives, Volume 11, Issue 6, December 2023., 2023
We previously reported that sodium pentobarbital inhibited the growth of breast cancer associated with the normalization of microcirculatory hemodynamics and oxygenation. Here we aimed to screen the key regulatory proteins involved in this process. Liquid chromatography linked to tandem mass spectrometry was used to analyze the difference in protein ...
Bingwei Li, Xiaoyan Zhang, Xueting Liu, Ailing Li, Jianqun Han   +4 more
wiley   +1 more source