Results 101 to 110 of about 2,976 (183)

Dysferlin (DYSF) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

DYSF wt Allele [PDF]

, 2020
openaire   +1 more source

The PKC inhibitor Bis I inhibited cell fusion induced by PMA but not FK-induced cell fusion in DYSF knock down BeWo cells.

, 2013
(A) While DYSF expression is increased in a time-dependent manner following treatment with FK in the parental BeWo cells, barely detectable DYSF expression was found in BeWo 964 DYSF-knockdown cells following FK treatment.
William E. Ackerman IV (155503), Dale D. Vandre (483968), Waka Omata (483967), John M. Robinson (203671)   +3 more
core   +1 more source

Dysferlin (DYSF); proteasome [PDF]

Science-Business eXchange, 2012
openaire   +1 more source

Analysis of Exon Skipping Applicability for Dysferlinopathies

Cells
Exon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie, Sebastian Hernandez Rodriguez, Martin Krahn, Toshifumi Yokota   +3 more
doaj   +1 more source

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

BMC Musculoskeletal Disorders
Background Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once ...
Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev   +11 more
doaj   +1 more source

Репаративный рабдомиогистогенез у мышей, мутантных по гену DYSF

, 2019
32 ...
openaire   +1 more source

Excess muscle plasma membrane leak disrupts ECM content and shifts macrophage-mediated muscle repair. [PDF]

JCI Insight
Lee G, Fitt AJ, Long AM, Vaught LA, DeBiasse D, Keeble AR, Kwon JM, Page PG, Daher MT, Hadhazy M, Willis AB, Ceja Galindo D, McCabe M, Lantz C, Hansen KC, Crosbie RH, Thorp EB, Demonbreun AR, McNally EM.   +18 more
europepmc   +1 more source

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings. [PDF]

Hum Mutat
Yousaf H, Khalid LB, Ahmed A, Ghumman RZ, Hassan S, Zahra H, Zafar G, Rubab K, Azakai H, Khan HN, Mahmood Q, Ali A, Mian BA, Ali Z, Raza M, Bano S, Mukhtiar K, Abdullah U, Ibrahim SH, Baig SM, Toft M, Kirmani S, Iqbal Z, Fatima A.   +23 more
europepmc   +1 more source

Accumulation of membrane repair-associated proteins and mature myostatin are novel markers of muscle pathophysiology in Pompe disease. [PDF]

Acta Neuropathol Commun
Babarit C, Jagot S, Schleder C, Deniaud J, Bourgeton T, Lagalice L, Vezzana L, Leroux I, Lardenois A, Evrard B, Dubreil L, Amiaud J, Verrecchia F, Thorin C, Mayeuf-Louchart A, Rouger K, Colle MA, LYSAUMI Consortium.   +17 more
europepmc   +1 more source