Results 81 to 90 of about 4,506 (155)

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex [PDF]

, 2017
PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common ...
Castañón, Maria J., Gostyńska, Katarzyna B., Jonkman, Marcel F., Lang, Kristin Kernland, Lemmink, Henny, Nijenhuis, Miranda, Pas, Hendri H., Pasmooij, Anna M.G., Wiche, Gerhard   +8 more
core  

A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review. [PDF]

J Rheum Dis, 2021
Kim MJ, Oh YJ, Hong YH, Park SH, Oh JS, Kim MJ, Chae JH, Shin K.   +7 more
europepmc   +1 more source

The Popeye Domain Containing Genes and Their Function in Striated Muscle

, 2016
The Popeye domain containing (POPDC) genes encode a novel class of cAMP effector proteins, which are abundantly expressed in heart and skeletal muscle. Here we will review their role in striated muscle as deduced from work in cell and animal models and ...
Brand, T, Ferlini, A, French, V, Schindler, RFR, Scotton, C   +4 more
core   +2 more sources

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos. [PDF]

Cureus, 2022
Quilacio JMS, Rosales RL, Ampil ER.
europepmc   +1 more source

Structural characterization of the D290V mutation site in hnRNPA2 low-complexity-domain polymers. [PDF]

, 2018
Human genetic studies have given evidence of familial, disease-causing mutations in the analogous amino acid residue shared by three related RNA binding proteins causative of three neurological diseases. Alteration of aspartic acid residue 290 of hnRNPA2
Kato, Masato, McKnight, Steven L, Murray, Dylan T, Tycko, Robert, Xiang, Siheng, Zhou, Xiaoming   +5 more
core  

Limb-girdle muscular dystrophy type 2B mimicking polymyositis Distrofia muscular de cinturas tipo 2B simulando polimiosite

Arquivos de Neuro-Psiquiatria, 2008
Leonardo Halley Carvalho Pimentel, Raimundo Neudson Maia Alcântara, Sheila Márcia de Araújo Fontenele, Carlos Maurício de Castro Costa, Francisco de Assis Aquino Gondim   +4 more
doaj   +1 more source

Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B. [PDF]

Neurosciences (Riyadh), 2020
Aldosari KH, Al-Ghamdi S, Alkhathlan KM, Alkhalidi HM.   +3 more
europepmc   +1 more source

Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore), 2020
Li Q, Tan C, Chen J, Zhang L.
europepmc   +1 more source

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report. [PDF]

Medicine (Baltimore), 2020
Lee SJ, Choi E, Shin S, Park J.
europepmc   +1 more source

Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering [PDF]

, 2018
Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced ...
Cappellari, O, Duchen, MR, Eschenhagen, T, Ferrari, G, Henderson, ABH, Khedr, M, Kotiadis, VN, Maffioletti, SM, Mannhardt, I, Mitchell, JS, Moyle, LA, Patani, R, Pinton, L, Ragazzi, M, Sarcar, S, Steele-Stallard, H, Tedesco, FS, Tyzack, GE, Wang, W, Wells, DJ, Wells, KE, Zammit, PS   +21 more
core