Results 51 to 60 of about 47,101 (300)
The role of mutation rate variation and genetic diversity in the architecture of human disease [PDF]
, 2013 We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease. We predict that the mutation rate and its genetic diversity should be higher in genes associated with disease, unless all genes that could cause disease have already been identified ...
arxiv +1 more source
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [PDF]
, 2017 To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to ...
Auer-Grumbach, Michaela +16 more
core
Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons [PDF]
, 2023 Inter-organelle contact sites between mitochondria and lysosomes mediate the crosstalk and bidirectional regulation of their dynamics in health and disease.
Ball, Hannah E +9 more
core +2 more sources
Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman +2 more
wiley +1 more source
Unveiling new disease, pathway, and gene associations via multi-scale neural networks [PDF]
PLOS ONE, 15(4), p.e0231059 (2020), 2019 Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can be derived from a patient cell's profile, improving our diagnosis ability, as well as our grasp of disease risks ...
arxiv +1 more source
Dynamin 2 in Charcot-Marie-Tooth Disease [PDF]
, 2012 Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton.
Takei, Kohji, Tanabe, Kenji
core +1 more source
Arthritis Care &Research, EarlyView.Objective Posttraumatic osteoarthritis (PTOA) accounts for nearly 12% of osteoarthritis incidences and often occurs after anterior cruciate ligament (ACL) tear. Ensuring the uptake of preventive treatments for PTOA requires that investigators and clinicians understand factors influencing patients to seek preventive therapies.
Lily M. Waddell +10 more
wiley +1 more source
Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A [PDF]
, 2017 Charcot-Marie-Tooth disease type 2A is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene. Mitofusin 2 encodes a mitochondrial outer membrane protein that participates in mitochondrial fusion in ...
Arnaud, Estelle +6 more
core
Pathological classification of equine recurrent laryngeal neuropathy [PDF]
, 2018 Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun +2 more
wiley +1 more source