Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations [PDF]
, 2005 Gene-poor human chromosomes are reproducibly found at the nuclear periphery in proliferating cells. There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins.
Bridger, JM +3 more
core +1 more source
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
Orphanet Journal of Rare Diseases, 2021 Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require ...
Adele D’Amico +10 more
doaj +1 more source
International Journal of Endorsing Health Science Research, 2021 Background: Now, a days myofascial trigger points are tremendously occurring and become a stressful part of nearly any person at any time in a lifetime. This study compares the effects of ischemic compression pressure with spray and stretch technique to ...
Urooj Khan +3 more
doaj +1 more source
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
Italian Journal of Pediatrics, 2021 Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language.
Marcello Scala +10 more
doaj +1 more source
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]
, 2015 Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh +49 more
core +4 more sources
Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]
, 2016 Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua +6 more
core +3 more sources
Cell Death and Disease, 2023 Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet +21 more
doaj +1 more source
Musculoskeletal disorders in university professors who telework due to COVID-19 pandemic
Universidad y Salud, 2022 Introduction: Teaching virtually can cause symptoms related to muscle pain due to bad postures when working with computers. Objective: To determine the presence of musculoskeletal disorders in university professors who telework during the COVID-19 ...
Angy Natalia Cristancho +2 more
doaj +1 more source
Modulation of PGC-1α activity as a treatment for metabolic and muscle-related diseases [PDF]
, 2014 Physical inactivity is a predisposing factor for various disease states including obesity, cardiovascular disease, as well as for certain types of cancer. Regular endurance exercise mediates several beneficial effects such as increased energy expenditure
Handschin, Christoph +1 more
core +1 more source