Results 11 to 20 of about 132 (72)

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy.
Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung   +17 more
doaj   +2 more sources

Acute sprint exercise transcriptome in human skeletal muscle.

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   +2 more sources

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

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   +2 more sources

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

, 2022
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 ...
Monahan, Gavin V., Ravenscroft, Gianina, Dofash, Lein N. H., Patricia Sullivan, Emilia Servián-Morilla, Rhonda L. Taylor, Emily Oates, Cabrera-Serrano, Macarena, Nigel G. Laing, Davis, Mark R., Beilharz, Traude, Traude Beilharz, Oates, Emily, Fathimath Faiz, Gavin Monahan, Clayton, Joshua, Mark R. Davis, Macarena Cabrera-Serrano, Gianina Ravenscroft, Laing, Nigel G., Servián Morilla, E., Eloy Rivas, Rivas Infante, Eloy, Taylor, Rhonda L., Lein N.H. Dofash, Joshua Clayton, Faiz, Fathimath, Sullivan, Patricia   +27 more
core   +1 more source

Characterization of PRR20A, FCBR3B and KLHL40 as Proximity-Dependent Effectors of Protein Stability [PDF]

, 2023
Proteasomal degradation, a natural process that degrades proteins, is used in targeted protein degradation (TPD) therapeutics to cure diseases. To find potential degraders for TPD, the Taipale lab screened for proteins that induce protein degradation or ...
Imrit, Ahmad Zoheyr
core   +2 more sources

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

, 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.
Beggs, Alan H., Koshimizu, Eriko, Kiraly-Borri, Cathy, Saitsu, Hirotomo, Muntoni, Francesco, Monnot, Sophie, Nishino, Ichizo, Ohya, Takashi, Bryson-Richardson, Robert J., Charles, Adrian K., Yamashita, Sumimasa, Vomauen, Pauliina, Miyatake, Satoko, Willichowski, Ekkhard, Tsurusaki, Yoshinori, Lehtokari, Vilma-Lotta, Kale, Gulsev, Sivadorai, Padma, Yau, Kyle S., Shiina, Masaaki, Vaz, Raquel, Osaka, Hitoshi, Kresoje, Nina, Todd, Emily J., Bertini, Enrico, Matsumoto, Naomichi, Allcock, Richard J. N., Amthor, Helge, Swanson, Lindsay C., Silberg, Inger E., Brownstein, Catherine A., Manzur, Adnan, Manzur, Adnan Y., Orhan, Diclehan, Ravenscroft, Gianina, Talim, Beril, Clarke, Nigel F., Imamura, Shintaro, Ogata, Kazuhiro, Fabian, Victoria A., Doi, Hiroshi, Laing, Nigel G., Romero, Norma B., Topaloglu, Haluk, Davis, Mark R., Ceyhan, Ozge, Miyake, Noriko, Sewry, Caroline A., Wallgren-Pettersson, Carina, Lammens, Martin, Yamashita, Michiaki, Haliloglu, Goknur, North, Kathryn N., Sakamoto, Yuko, Vornanen, Pauliina, Allcock, Richard J.N., Nevo, Yoram, Hayashi, Yukiko K., Willichowski, Eldthard   +58 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   +1 more source

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

Annals of Clinical and Translational Neurology, Volume 10, Issue 7, Page 1219-1229, July 2023., 2023
Abstract Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort. Methods Modified Mercuri scoring of lower limb MRI in genetically characterised NM patients referred to the highly specialised service for congenital myopathies at Great Ormond ...
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy   +7 more
wiley   +1 more source

The genetic basis of pemphigus vulgaris

JEADV Clinical Practice, Volume 2, Issue 2, Page 203-212, June 2023., 2023
Abstract The severe autoimmune blistering disease pemphigus vulgaris (PV) is most probably mainly due to autoantibodies directed against desmosomal components of the epithelium, disrupting cell‐cell adhesion. The precise mechanisms underlying the development of the disease are still unknown, and immunosuppressive medications such as corticosteroids ...
Dan Vodo, Eli Sprecher
wiley   +1 more source

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

Human Mutation, Volume 43, Issue 9, Page 1224-1233, September 2022., 2022
Abstract Nemaline myopathies (NEMs) are genetically and clinically heterogenous. Biallelic or monoallelic variants in TNNT1, encoding slow skeletal troponin T1 (TnT1), cause NEM. We report a 2‐year‐old patient and his mother carrying the heterozygous TNNT1 variant c.194A>C/p.(Asp65Ala) that occurred de novo in the mother. Both had muscle hypotrophy and
Tess Holling, Jasmin Lisfeld, Jessika Johannsen, Jakob Matschke, Feizhi Song, Hermann Clemens Altmeppen, Kerstin Kutsche   +6 more
wiley   +1 more source