Results 91 to 100 of about 2,650 (160)

Molecular Genetic Analysis of Limb Girdle Muscular Dystrophy 2A (LGMD2A) in two consanguineous Pakistani families

Khyber Medical University Journal, 2016
Objectives: To investigate molecular pathogenesis of the disease and to significantly improve diagnosis and understanding of muscular dystrophy in Pakistani population.
Muhammad Jaseem Khan
doaj  

A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle

Skeletal Muscle
Background Human iPSC-derived 3D-tissue-engineered-skeletal muscles (3D-TESMs) offer advanced technology for disease modelling. However, due to the inherent genetic heterogeneity among human individuals, it is often difficult to distinguish disease ...
Stijn L. M. in ‘t Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W. W. M. Pim Pijnappel   +5 more
doaj   +1 more source

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3. [PDF]

J Biol Chem
Hisatsune C, Shinkai-Ouchi F, Hata S, Ono Y.   +3 more
europepmc   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Inflammation-Linked Muscle Atrophy in Limb Girdle Muscular Dystrophy R1 (LGMDR1): Insights into Disease Mechanisms. [PDF]

Curr Issues Mol Biol
Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK.   +3 more
europepmc   +1 more source

Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. [PDF]

Int J Mol Sci
D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R.   +11 more
europepmc   +1 more source

Age, muscle, and gender specific characterization of muscle degeneration in a mouse model of calpainopathy. [PDF]

Sci Rep
Südkamp N, Heinen-Weiler J, Rohm M, Zaik M, Daya N, Güttsches AK, Theiss C, Roos A, Ruck T, Jacobsen F, Schlaffke L, Vorgerd M.   +11 more
europepmc   +1 more source

The MAD2L1-FOXM1 axis negatively regulates CD4⁺ T cell and macrophages infiltration in lung adenocarcinoma. [PDF]

Discov Oncol
Saini C, Vats P, Baweja B, Nema R.
europepmc   +1 more source

From calcium pump to metabolic hub: emerging genetic phenotypes and metabolic networks of SERCA2 in skeletal muscle. [PDF]

Front Physiol
Lei S, Qu Y, Yan J, Nan F, Liu S, Pan W, Yu C.   +6 more
europepmc   +1 more source

Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily. [PDF]

Genes (Basel)
Rini N, Lupica A, Alonge P, Crescimanno G, Pignolo A, Messina C, Santa Paola S, Giuliano M, Borgione E, Lo Giudice M, Scuderi C, Di Stefano V, Brighina F.   +12 more
europepmc   +1 more source