Results 51 to 60 of about 520 (132)

Transcriptomic time course of skeletal muscle disuse and rehabilitation in middle‐aged adults

Physiological Reports, Volume 13, Issue 15, August 2025.
Abstract Disuse drives rapid muscle atrophy and metabolic dysfunction. This study aimed to characterize phenotypic and transcriptomic skeletal muscle changes in middle‐aged individuals during disuse and rehabilitation. Eleven healthy middle‐aged adults (6 males, 5 females; age; 57 ± 5 years) underwent 7 days of unilateral lower limb suspension (ULLS ...
Zachary D. Von Ruff, Sean P. Kilroe, Erik D. Marchant, Emily J. Arentson‐Lantz, Steven Widen, Jill Thompson, Alejandro Villasante‐Tezanos, Elena Volpi, Doug Paddon‐Jones, Blake B. Rasmussen   +9 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

Risk of hypertensive disorders in pregnancies with non‐immune hydrops fetalis and single fetal effusions

Pregnancy, Volume 1, Issue 4, July 2025.
Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani, Diana C. Robles, Juan M. Gonzalez, Mary E. Norton, Teresa N. Sparks   +4 more
wiley   +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
core   +1 more source

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper‐contractility

The Journal of Physiology, Volume 603, Issue 12, Page 3533-3550, 15 June 2025.
Abstract figure legend Graphical representation of the main results. The cartoon indicates that, in the presence of TNNT1 variants, the thin filament is more compliant, and more easily activated leading to higher myofibre Ca2+ sensitivity and cellular hyper‐contractility.
Jenni Laitila, Christopher T. A. Lewis, Anthony L. Hessel, Guido Primiano, Aurelio Hernandez‐Lain, Chiara Fiorillo, Michael W. Lawlor, Coen A. C. Ottenheijm, Heinz Jungbluth, Ka Fu Man, Arianna Fornili, Julien Ochala   +11 more
wiley   +1 more source

Modelling myopathies in zebrafish [PDF]

, 2017
Muscle diseases, or myopathies, are a group of rare congenital diseases that severely incapacitate the patients and in some cases are fatal. Most of these diseases result from mutations in genes that code for proteins of the sarcomere, the contractile ...
Rodrigues Vaz, Raquel (3759244)
core   +1 more source

Human skeletal muscle possesses both reversible proteomic signatures and a retained proteomic memory after repeated resistance training

The Journal of Physiology, Volume 603, Issue 9, Page 2655-2673, 1 May 2025.
Abstract figure legend Human skeletal muscle proteome response was investigated after 10‐week resistance training (RT1) followed by 10‐week training cessation (i.e. detraining, DT), and finally, 10‐week retraining (RT2). Many of the proteins were reversed towards baseline after DT and increased again after RT2. These reversible proteins were especially
Juha J. Hulmi, Eeli J. Halonen, Adam P. Sharples, Thomas M. O'Connell, Lauri Kuikka, Veli‐Matti Lappi, Kari Salokas, Salla Keskitalo, Markku Varjosalo, Juha P. Ahtiainen   +9 more
wiley   +1 more source

Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases [PDF]

Genes (Basel)
Background/Objectives: Genomic testing has transformed rare-disease diagnostics, yet a substantial proportion of individuals remain without a molecular diagnosis even after short-read exome sequencing (SR-ES) or short-read genome sequencing (SR-GS) and ...
Brownstein C, Madden J, Shao W, Genetti C, Chin J, Ustach V, Wojcik M, Madden A, Edisis N, Li H, Johnson D, McWalter K, Noya J, Schmitz-Abe K, Rockowitz S, Agrawal P, Newman S, Devaney J, Kruszka P, Beggs A.   +19 more
europepmc   +2 more sources

DNA hypermethylation preceded by H3K27 trimethylation is linked to downregulation of gene expression in disuse muscle atrophy in male mice

Physiological Reports, Volume 13, Issue 7, April 2025.
Abstract Disuse muscle atrophy can result in downregulated gene expression vital to muscle integrity, yet the mechanisms driving this downregulation remain unclear. Epigenetic alterations regulate transcriptional potential, with repressive changes suppressing gene expression.
Junya Shimizu, Fuminori Kawano
wiley   +1 more source

The Genetics of 241 Fetuses With Talipes Equinovarus: A 8‐Year Monocentric Retrospective Study

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
Fetuses with talipes equinovarus (TE) is related to chromosome abnormalities, pathogenic or likely pathogenic copy number variants (CNVs) and monogenic diseases. Karyotyping, CMA, and WES could be offered. WES is recommended for both isolated and complex fetal TE.
Pingshan Pan, Dongbing Huang, Jiangxuan Wei, Wei He, Peng Huang, Sheng Yi, Jing Huang, Dahua Meng, Shuyin Tan, Xinyan Li, Hongwei Wei, Linlin Wang   +11 more
wiley   +1 more source