Results 41 to 50 of about 132 (72)

Image_1_Case Report: Prenatal Diagnosis of Nemaline Myopathy.TIF

, 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.
Li Yu (81651), Dongmei Liu (268523), Ming Zhang (9736), Shi Zeng (1835035), Ganqiong Xu (12832606), Xin Wang (91924), Jiali Yu (2625541), Yang Yang (45629)   +7 more
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Deciphering Immune Landscape Remodeling Unravels the Underlying Mechanism for Synchronized Muscle and Bone Aging

Advanced Science, Volume 11, Issue 5, February 2, 2024.
This study examines the aging features of the muscle‐bone unit at a single‐cell level. Immune cells are found to play a crucial role in orchestrating the synchronized aging of muscles and bones. The findings advance the understanding of synchronized musculoskeletal aging and lay the molecular and cellular foundation for further basic and translational ...
Pengbin Yin, Ming Chen, Man Rao, Yuan Lin, Mingming Zhang, Ren Xu, Xueda Hu, Ruijing Chen, Wei Chai, Xiang Huang, Haikuan Yu, Yao Yao, Yali Zhao, Yi Li, Licheng Zhang, Peifu Tang   +15 more
wiley   +1 more source

Congenital myopathies: characteristic and subtypes in Hong Kong [PDF]

, 2015
Congenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features. This is a unique group with phenotypic, genotypic and pathological heterogeneity, so the confirmation of an ...
Cheng, Y, Lam, WMW, Chan, AOK, Fung, STH, Ng, GSF, Wong, S, Wong, VCN, Lee, HCH, Ip, JJK, Chan, HSS, Cherk, SWW, Ho, RSL, Chan, TSK, Shek, WH, Lee, CN, Liu, KT   +15 more
core   +1 more source

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families

BMC Musculoskeletal Disorders
Background Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle ...
Bin Mao, Xiaoling Cai, Na Lin, Yulin Jiang, Na Hao, Yifang Dai, Danhua Guo, Deqin He, Huili Xue, Lingji Chen, Qianqian He, Min Zhang, Meihuan Chen, Hailong Huang, Liangpu Xu   +14 more
doaj   +1 more source

Epigenetics of Muscle- and Brain-Specific Expression of KLHL Family Genes

, 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   +1 more source

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth [PDF]

, 2015
Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a ...
Allcock, Richard J.N., Todd, EJ, George McGillivray, Kiraly-Borri, Cathy, Caroline A Sewry, Ong, Royston, Cairns, Anita, Maxwell, S, Ong, R, Freckmann, Mary-Louise, Yau, Kyle S., Kiraly-Borri, C, Sewry, Caroline A, Todd, E., Todd, Emily J., Cathy Kiraly-Borri, Talim, B., Laing, Nigel G., Allcock, Richard J. N., Colley, A, Monique M. Ryan, Padma Sivadorai, Norma B. Romero, Clarke, N., Talim, Beril, Haliloglu, G., Clarke, Nigel F., Sewry, CA, Ryan, M., Jennie Slee, Ong, R., Sewry, C., Colley, A., Davis, Mark R., Beril Talim, Laing, NG, McGillivray, George, Romero, Norma B., Ariana Kariminejad, Maxwell, Susan, Romero, N., Zuhal Akcoren, Richard J.N. Allcock, Susan Maxwell, Akcoren, Z., Slee, J, Ryan, MM, Anita Cairns, Freckmann, M., Romero, NB, Williams, D, Kiraly-Borri, C., Christopher P. Barnett, Williams, D., Barnett, CP, Barnett, Christopher P., Cairns, A., Goknur Haliloglu, Kariminejad, Ariana, Ryan, Monique M., Yau, K., Slee, Jennie, Freckmann, ML, Emily J. Todd, Royston Ong, Ravenscroft, G, Sivadorai, Padma, Akcoren, Zuhal, Williams, Denise, Gianina Ravenscroft, Clarke, NF, Allcock, RJN, Colley, Alison, Mary-Louise Freckmann, Kariminejad, A., Denise Williams, Yau, KS, Beeson, D, et al., Ravenscroft, Gianina, Davis, MR, Nigel F. Clarke, Kyle S. Yau, McGillivray, G, Akcoren, Z, Haliloglu, G, Cairns, A, Alison Colley, Nigel G. Laing, Sivadorai, P., David Beeson, Mark R. Davis, Sivadorai, P, Sewry, Caroline A., Barnett, C., Haliloglu, Goknur, Beeson, David, Slee, J., Talim, B, McGillivray, G., Kariminejad, A   +100 more
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Developing clinical mouse models with KLHL40 deficiency

2024Nemaline Myopathies greatly impact the life of all patients who endure this disease. The symptoms of nemaline myopathy range greatly depending on the specific gene affected, affecting lives of some more than others.
McNulty, Joanna
core   +1 more source

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

, 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
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A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

Introduction: Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of KLHL40 gene cause severe form of NEM (NEM8), which leads to a wide range of symptoms ...
YİŞ, ULUÇ, Schon, Katherine R., ÇAĞLAYAN, AHMET OKAY, Sönmeza, Beria, Giray Bozkaya, Özlem, POLAT, AYŞE İPEK, KOCABEY, MEHMET, Karaoǧlu, Pakize, Horvath, Rita, GÜRSOY, SEMRA, ÜLGENALP, AYFER   +10 more
core   +1 more source

Gene discovery and mechanism of disease in the myopathies [PDF]

, 2018
Congenital myopathy and muscular dystrophy are two groups of inherited muscle diseases characterised by muscle weakness, and sub-classified by hallmark pathological features within a skeletal muscle biopsy.
Best, Heather Annette
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