Results 91 to 100 of about 2,976 (183)

Molecular analysis of LGMD-2B and MM patients: Identification of novel DYSF mutations and possible founder effect in the Italian population

, 2003
Dysferlin, the protein product of the dysferlin gene (DYSF), has been shown to have a role in calcium-induced membrane fusion and repair. Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle
COMI, G. P., LOCATELLI, F., TOSCANO, Antonio, BRESOLIN, N., RODOLICO, Carmelo, PRELLE, A., FORTUNATO, F., CAGLIANI, R., SIRONI, A., D'ANGELO, M. G., GIORDA, R., BONAGLIA, M. C.   +11 more
core   +1 more source

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, Ze LI, Qiu-sheng CHENG, Xi CHEN, Yu-ling ZHU, Ya-qin LI, Meng-long CHEN, Cheng ZHANG   +7 more
doaj   +1 more source

Nanodysferlins support membrane repair and binding to TRIM72/MG53 but do not localize to t-tubules or stabilize Ca2+ signaling

Molecular Therapy: Methods & Clinical Development
Mutations 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, Valeriy Lukyanenko, Thomas A. Kwiatkowski, Yi Li, Sayak Bhattacharya, Kassidy K. Banford, Daniel Garman, Hannah R. Bulgart, Roger B. Sutton, Noah Weisleder, Robert J. Bloch   +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

PMA induced cell fusion, DYSF expression, and activation of PKC in BeWo cells while 4αPMA was inactive.

, 2013
(A) BeWo cells were treated with 0.25% DMSO (solvent control, CTRL) or with PMA (1, 10, 100, 1000 nM) or 4αPMA (1, 10, 100, 1000 nM) for 72 h. Cell lysates were generated and immunoblots were probed with anti-DYSF.
William E. Ackerman IV (155503), Dale D. Vandre (483968), Waka Omata (483967), John M. Robinson (203671)   +3 more
core   +1 more source

Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report

Heliyon
Miyoshi 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

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Biomolecules
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj   +1 more source

Фазовые диаграммы систем SrF2-GdSF, SrF2-DySF

Вестник Тюменского государственного университета. Социально-экономические и правовые исследования, 2011
Впервые построены фазовые диаграммы систем SrF2-GdSF, SrF2-DySF. Соединения SrLn2S2F4 имеют тетрагональную сингонию, пр. гр. I4/mmm, плавятся конгруэнтно: SrGd2S2F4 a = 0,3968 нм, c = 1,9284 нм, Тпл = 1600 К; SrDy2S2F4 a =0,3952 нм, c = 1,9269 нм, Т = 1570 К.
openaire   +1 more source

Rho1 and MyoII localization during fold formation and in Dysf knockdown prepupal legs.

, 2018
(A-C) Time course imaging of the apical region (sagittal view, schematic representation to the left) of the t4-t5 tarsal fold at the Pre-fold stage, Mid-fold stage and Late fold stage of zip-GFP (A), sqhAX3; sqh-GFP (B) and Rho1-GFP (C) prepupal leg ...
Carlos Estella (149879), Sergio Córdoba (645937)   +1 more
core   +1 more source

DYSF Gene [PDF]

, 2020
openaire   +1 more source