Results 41 to 50 of about 520 (132)
Journal of Cachexia, Sarcopenia and Muscle, Volume 12, Issue 6, Page 1704-1723, December 2021., 2021 Abstract Background Transmembrane proteins are vital for intercellular signalling and play important roles in the control of cell fate. However, their physiological functions and mechanisms of action in myogenesis and muscle disorders remain largely unexplored.
Wen Luo +12 more
wiley +1 more source
Image_1_Case Report: Prenatal Diagnosis of Nemaline Myopathy.TIF [PDF]
, 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) +7 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 +1 more source
bioRxiv, 2022 Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases including myopathies and muscular atrophy.
A. Mansur +17 more
semanticscholar +1 more source
Developing cellular models for human myopathies [PDF]
, 2023 Recent advancements in genetics and technology have led to a greater understanding of the roles of different skeletal muscle proteins in a disease context.
Kim, Euri
core +1 more source
Investigating Genetic Causes of Mendelian Congenital Myopathies [PDF]
, 2022 This thesis investigates the genetic aetiology of congenital myopathy in families with an unresolved genetic diagnosis. In two families, massively parallel sequencing and functional analyses identified two genetic candidates: a regulatory variant (c ...
Dofash, Lein
core
Transcriptomic analysis of yak longissimus dorsi muscle identifies genes associated with tenderness [PDF]
, 2023 Meat tenderness is an important sensory index when consumers choose meat products, which determines the value of meat products and consumers’ buying intentions. Yak meat is rich in nutrition and unique in flavor, which is favored by consumers.
Tserang Donko Mipam (16849500) +11 more
core +1 more source
Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu +4 more
wiley +1 more source
Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang +3 more
wiley +1 more source
Whole exome sequencing in patients with congenital myopathy [PDF]
, 2014 Introduction: Congenital myopathies (CM) are a heterogeneous group of muscle diseases presenting at birth or early infancy, characterised by muscle weakness and specific morphological changes in the muscle biopsy.
Johann Haukur Sigurðsson (563770) +8 more
core +1 more source