Results 11 to 20 of about 520 (132)

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy [PDF]

Journal of Clinical Investigation, 2014
Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains unresolved.
Gianina Ravenscroft, Nadine Beetz, Nigel G Laing   +2 more
exaly   +6 more sources

The dynamics of the β-propeller domain in Kelch protein KLHL40 changes upon nemaline myopathy-associated mutation [PDF]

RSC Advances, 2016
The nemaline myopathy-associated E528K mutation in the KLHL40 alters the communication between the Kelch propeller blades.
Matteo Lambrughi, Marcello Pignataro, Marco Sola   +2 more
exaly   +7 more sources

A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability. [PDF]

Mol Syndromol
<b><i>Introduction:</i></b> Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of <i>KLHL40</i> gene cause severe form of NEM (NEM8), which leads to a wide range of symptoms, including hypotonia, muscle weakness, joint ...
Sönmez B, Kocabey M, Polat Aİ, Gürsoy S, Karaoğlu P, Rita Horvath, Schon KR, Ülgenalp A, Yiş U, Çağlayan AO, Giray Bozkaya Ö.   +10 more
europepmc   +5 more sources

A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism [PDF]

Human Molecular Genetics, 2022
Abstract Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene (KLHL40). Common features include fetal akinesia, fractures, contractures, dysphagia, respiratory failure and neonatal death.
Lein N.H. Dofash, Gavin Monahan, Emilia Servián-Morilla, Eloy Rivas, Fathimath Faiz, Patricia Sullivan, Emily Oates, Joshua Clayton, Rhonda L. Taylor, Mark R. Davis, Traude Beilharz, Nigel G. Laing, Macarena Cabrera-Serrano, Gianina Ravenscroft   +13 more
core   +11 more sources

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

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   +4 more sources

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy [PDF]

The American Journal of Human Genetics, 2013
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort of 143 severe-NEM-affected families lacking genetic diagnosis.
Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vomauen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hirotomo, Osaka, Hitoshi, Yamashita, Sumimasa, Ohya, Takashi, Sakamoto, Yuko, Koshimizu, Eriko, Imamura, Shintaro, Yamashita, Michiaki, Ogata, Kazuhiro, Shiina, Masaaki, Bryson-Richardson, Robert J., Vaz, Raquel, Ceyhan, Ozge, Brownstein, Catherine A., Swanson, Lindsay C., Monnot, Sophie, Romero, Norma B., Amthor, Helge, Kresoje, Nina, Sivadorai, Padma, Kiraly-Borri, Cathy, Haliloglu, Goknur, Talim, Beril, Orhan, Diclehan, Kale, Gulsev, Charles, Adrian K., Fabian, Victoria A., Davis, Mark R., Lammens, Martin, Sewry, Caroline A., Manzur, Adnan, Muntoni, Francesco, Clarke, Nigel F., North, Kathryn N., Bertini, Enrico, Nevo, Yoram, Willichowski, Eldthard, Silberg, Inger E., Topaloglu, Haluk, Beggs, Alan H., Allcock, Richard J. N., Nishino, Ichizo, Wallgren-Pettersson, Carina, Matsumoto, Naomichi, laing, Nigel G.   +54 more
core   +10 more sources

Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese [PDF]

Journal of Neuropathology and Experimental Neurology, 2019
Abstract KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologic features and genetic studies.
Han-Chih Hencher Lee, Shun Wong, Sammy Pak-Lam Chen   +2 more
exaly   +4 more sources

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization [PDF]

International Journal of Molecular Sciences, 2022
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to
Edmar Zanoteli, Acary Bulle Oliveira, Erasmo B Casella   +2 more
exaly   +6 more sources

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

PLoS ONE, 2020
BackgroundPatients 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   +4 more
doaj   +4 more sources

The Whole Genome DNA Methylation Signatures of Hindlimb Muscles in Chinese Alligators during Hibernation and Active Periods [PDF]

Animals
Many ectotherms hibernate to increase their chances of survival during harsh winter conditions. The role of DNA methylation in regulating gene expression related to hibernation in ectotherms remains unclear.
Jihui Zhang, Xiaobing Wu
doaj   +4 more sources