Results 41 to 50 of about 378,998 (299)

Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

Iranian Journal of Public Health, 2020
The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI, Dariush D. FARHUD, Karim NAYERNIA, Hossein SADIGHI, Marjan ZARIF-YEGANEH   +4 more
doaj   +1 more source

Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy [PDF]

, 2013
BACKGROUND: Skeletal muscle mass is determined by the balance between protein synthesis and degradation. Mammalian target of rapamycin complex 1 (mTORC1) is a master regulator of protein translation and has been implicated in the control of muscle mass ...
Handschin, Christoph, Bentzinger, C. Florian, Guridi, Maitea, Castets, Perrine, Hall, Michael N, Tintignac, Lionel A., Hall, Michael N., Perrine Castets, Romanino, Klaas, Tintignac, Lionel, Rüegg, Markus A, Michael N Hall, Lin, Shuo, Markus A Rüegg, Bentzinger, C Florian, Christoph Handschin, Serge Summermatter, Summermatter, Serge, C Bentzinger, Klaas Romanino, Maitea Guridi, Shuo Lin, Rüegg, Markus A., Lionel A Tintignac   +23 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

, 2014
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

Circulating microRNA signatures of cachexia and cancer in Canis familiaris as a comparative oncology model for human disease

Molecular Oncology, EarlyView.
Circulating microRNAs as biomarkers of cachexia and sex‐specific cancer in senior dogs. In 25 client‐owned dogs, four circulating miRNAs (miR‐15a, miR‐15b, miR‐16, miR‐140) were downregulated in cachexia, with miR‐16 the strongest individual biomarker (AUC = 0.899).
Soon‐Seok Park, Kyongman An, Gyeonghwa Kim, Soo‐Nyun Choi, Hong‐Ki Lee, Keun Hur, Kyu‐Shik Jeong   +6 more
wiley   +1 more source

The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]

, 2014
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman, Boardman, Felicity Kate, Boardman, Felicity K.   +2 more
core   +1 more source

Identification and characterization of a gene conferring stress resistance in Escherichia coli and cyanobacteria

FEBS Open Bio, EarlyView.
Functional screening identified PcSyn14890, a cyanobacteria‐specific protein that enhances growth and stress resistance in E. coli and Synechocystis PCC6803. Although we expected it to function as a molecular chaperone, it was unable to protect against thermal aggregation of GAPDH.
Akiyo Yamada, Takaaki Tanaka, Manaka Uehara, Keigo Nakano, Ken Morishima, Rintaro Inoue, Masaaki Sugiyama, Masafumi Yohda   +7 more
wiley   +1 more source

PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy [PDF]

, 2007
The coactivator PGC-1alpha mediates key responses of skeletal muscle to motor nerve activity. We show here that neuregulin-stimulated phosphorylation of PGC-1alpha and GA-binding protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and ...
Handschin, C., Kobayashi, Y M, Chin, S, Kobayashi, Y. M., Seale, P., Seale, P, Spiegelman, B. M., Handschin, C, Campbell, K. P., Campbell, K P, Spiegelman, B M, Chin, S.   +11 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

A randomized, placebo-controlled trial of creatine in children with spinal muscular atrophy

, 2007
Objective: To determine whether oral creatine produces positive changes in any of 4 outcomes in children with spinal muscular atrophy (SMA). Methods: The authors conducted a randomized, double-blind, placebo-controlled trial on 55 patients aged 2-18 ...
Hynan, Linda S, Iannaccone, Susan T, Wong, Brenda L   +2 more
core   +1 more source