Results 101 to 110 of about 4,375 (200)
Egyptian Journal of Medical Human GeneticsIntroduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited muscular disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging.
Valentina Martínez-Montoya +4 more
doaj +1 more source
Distribution of limb girdle muscular dystrophy subtypes among Portuguese patients [PDF]
, 2012 Although the limb girdle muscular dystrophies (LGMD) are collectively characterized by progressive muscle weakness, they exhibit wide clinical and genetic heterogeneity. Over 23 loci have been identified; eight are autosomal dominant subtypes (LGMD1A-1H)
Vieira, Emília
core
Transcriptional profiling of NCI/ADR-RES cells unveils a complex network of signaling pathways and molecular mechanisms of drug resistance [PDF]
, 2018 Ovarian cancer has the highest mortality rate among all the gynecological cancers. This is mostly due to the resistance of ovarian cancer to current chemotherapy regimens.
Benito i Mundet, Antoni +4 more
core +2 more sources
Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese ...
Hui-li ZHANG +7 more
doaj +1 more source
Molecular Therapy: Methods & Clinical DevelopmentMutations in the DYSF gene, encoding the protein dysferlin, lead to several forms of muscular dystrophy. In healthy skeletal muscle, dysferlin concentrates in the transverse tubules and is involved in repairing the sarcolemma and stabilizing Ca2 ...
Joaquin Muriel +10 more
doaj +1 more source
The transcription factor Dysfusion promotes fold and joint morphogenesis through regulation of Rho1.
PLoS Genetics, 2018 The mechanisms that control tissue patterning and cell behavior are extensively studied separately, but much less is known about how these two processes are coordinated.
Sergio Córdoba, Carlos Estella
doaj +1 more source
Potential impact of primate‐specific SVA retrotransposons during the evolution of human cognitive function. [PDF]
, 2017 The SVA family of hominid-specific non-LTR retrotransposon comprises the youngest group of transposable elements in the human genome. The propagation of the most ancient SVA subfamily took place about 13.5 million years ago, and the youngest SVA ...
Bubb, VJ +5 more
core +1 more source
BMC Medical Genetics, 2018 Background We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced severe unexpected symptoms of ...
Mahjoubeh Jalali-Sefid-Dashti +3 more
doaj +1 more source
Disferlinopaties i antecedents familiars [PDF]
, 2007 Les disferlinopaties, un tipus de distrofies musculars d'herència autosòmica recessiva, poden ser desenvolupades per persones que no tinguin antecedents familiars de la malaltia.
Illa Sendra, Isabel
core +1 more source
HeliyonMiyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the dysferlin (DYSF) gene. This disease presents with progressive distal lower limb weakness, such as gastrocnemius and soleus muscles resulting in difficulty
Alex S. Aguirre, Vanessa I. Romero
doaj +1 more source