Results 111 to 120 of about 2,976 (183)

Generation of a human induced pluripotent stem cell line from a Dysferlinopathy patient carrying mutations in DYSF gene

An induced pluripotent stem cell (hiPSC) line (CUKi002-A) was generated from fibroblasts of a male patient with Dysferlinopathy using lentiviral delivery of the reprogramming factors OCT4, SOX2, KLF4, and c-MYC.
Jae-in Ryu, Kee-Pyo Kim, Myunghyun Kim, Borami Shin, Ji-Young Mun, Jisun Kim, Johnny Kim, Dong-Hyun Kim, SooJin Kim, Jangjoong Kim   +9 more
core   +1 more source

Frequent expression of aberrant chimeric Cdkn2a transcripts in mouse models of muscular dystrophy. [PDF]

Sci Rep
Wolfram M, Reiter K, Höger H, Bittner RE, Schmidt WM.   +4 more
europepmc   +1 more source

Exploring Dystrophin Expression and Mutations in the <i>DMD</i> and Dystrophin-Glycoprotein Complex Genes as Prognostic Factors in Leiomyosarcomas. [PDF]

Int J Mol Sci
Salazar J, Cerdà P, Artigas A, Orellana R, González A, Terés R, Arranz MJ, Bagué S, Fumagalli C, González JA, Peiró A, González-Quereda L, Rodríguez MJ, Gallardo E, Aguado M, Sebio A.   +15 more
europepmc   +1 more source

Integrated stress response couples mitochondrial fitness with lineage reprogramming to drive cancer evolution. [PDF]

Nat Cell Biol
Diao S, Zou JY, Wang S, Chan JE, Kortlever RM, Poulain N, Ghaddar N, Kim H, Evan GI, Koumenis C, Hatzoglou M, Walter P, Sonenberg N, Le Quesne J, Tammela T, Koromilas AE.   +15 more
europepmc   +1 more source

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies. [PDF]

J Neuromuscul Dis
Subbotin D, Borovikov A, Kuchina A, Sharkova I, Vlasenko A, Rudenskaya G, Nikitin S, Gilvanova O, Degterev D, Druzhinin D, Druzhinina E, Grishina D, Dadali E, Marakhonov A, Chausova P, Fomenko S, Ryzhkova O, Shchagina O, Kutsev S, Murtazina A.   +19 more
europepmc   +1 more source

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families. [PDF]

Hum Mutat
Soltani N, Shahbazi Z, Fallah MS, Karimipoor M, Bagherian H, Dabbagh Bagheri S, Shirzadeh T, Zafarghandi Motlagh F, Rabie Salehi G, Younesikhah S, Asnavandi S, Zeinali R, Majidi Z, Zeinali S.   +13 more
europepmc   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

When to think of genetic causes for rhabdomyolysis? A Brazilian single-center exploratory study. [PDF]

Arq Neuropsiquiatr
Martins AP, Martinez ARM, Nucci A, França Júnior MC.   +3 more
europepmc   +1 more source

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review. [PDF]

BMC Pediatr
Bardakov SN, Emelin AM, Nikitin SS, Suslov VМ, Dmitrochenko IV, Kovalevskaya IS, Korzun PR, Yakovlev IA, Isaev АА, Deev RV.   +9 more
europepmc   +1 more source

Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy. [PDF]

Genes Dis
Bouchard C, Despax L, Rousseau J, Tremblay JP.   +3 more
europepmc   +1 more source