Results 31 to 40 of about 3,486 (173)

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

Physiological Reports, 2023
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles.
Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin   +6 more
doaj   +1 more source

Bent Spine Syndrome: A Phenotype of Dysferlinopathy or a Symptomatic DYSF Gene Mutation Carrier [PDF]

European Neurology, 2012
Bent spine syndrome : a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation ...
István Gáti, Olof Danielsson, Cecilia Gunnarsson, Magnus Vrethem, Bo Häggqvist, Bengt-Arne Fredriksson, Anne-Marie Landtblom   +6 more
openaire   +1 more source

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing

Medicine, 2020
Abstract Rationale: The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes.
Sook Joung Lee, Eunseok Choi, Soyoung Shin, Joonhong Park   +3 more
openaire   +2 more sources

Functional muscle hypertrophy by increased insulin-like growth factor 1 does not require dysferlin. [PDF]

, 2019
IntroductionDysferlin loss-of-function mutations cause muscular dystrophy, accompanied by impaired membrane repair and muscle weakness. Growth promoting strategies including insulin-like growth factor 1 (IGF-1) could provide benefit but may cause ...
Barton, Elisabeth R, Brisson, Becky K, Hammers, David W, Liu, Min, Park, SooHyun, Pham, Jennifer, Smith, Lucas R, Sweeney, H Lee, Tian, Zuozhen, Vassilakos, Georgios   +9 more
core   +1 more source

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Keep, Nicholas H., Orengo, C., Sula, Altin, Yeats, C.   +4 more
core   +1 more source

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]

, 2018
Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni, Dokuru, Deepika, Farmer, Jennifer, Gao, Fuying, Isaacs, Charles, Lynch, David R, Nachun, Daniel, Perlman, Susan, Sears, Renee, Strawser, Cassandra, Van Berlo, Victoria, Yang, Zhongan   +11 more
core   +1 more source

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]

, 2008
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Achanzar, Anderson, Aroul-Selvam, Bansal, Barker, Bashir, Bateman, Berg, Bernatchez, Bravo, Britton, Brunger, Cagliani, Cagliani, Cho, Cornilescu, Couet, Davis, de Luna, Delaglio, DeLano, Doherty, Dosset, Essen, Eugen-Matthias Strehle, Flocco, Glaser, Gouet, Han, Holm, Huang, James D. Watson, Katharine Bushby, Kawabe, Krissinel, Laskowski, Lennon, Letunic, Linge, Linge, Liu, Lu, Matsuda, Matsuda, McNeil, Miyoshi, Muhandiram, Nagashima, Nalefski, Nederveen, Nguyen, Nicholas H. Keep, Ottiger, Paul C. Driscoll, Ponting, Pryank Patel, Richard Harris, Rizo, Roux, Ruckert, Rumaisa Bashir, Somers, Stella M. Geddes, Sutton, Tagawa, Takahashi, Tan, Therrien, Vranken, Yamazaki, Yasunaga   +70 more
core   +1 more source

В6.А-DYSFPRMD/GENEJ MICE AS A GENETIC MODEL OF DYSFERLINOPATHY

Фармация и фармакология (Пятигорск), 2022
The aim of the work was behavioral and pathomorphological phenotyping of the mice knockout for the DYSF gene, which plays an important role in the development and progression of dysferlinopathy.Materials and methods.
M. V. Korokin, E. V. Kuzubova, A. I. Radchenko, R. V. Deev, I. A. Yakovlev, A. V. Deikin, N. S. Zhunusov, A. M. Krayushkina, V. M. Pokrovsky, O. A. Puchenkova, K. D. Chaprov, N. V. Ekimova, S. N. Bardakov, O. N. Chernova, A. M. Emelin, I. S. Limaev   +15 more
doaj   +1 more source

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
core   +4 more sources

Ancestry dependent balancing selection of placental dysferlin at high-altitude

Frontiers in Cell and Developmental Biology, 2023
Introduction: The placenta mediates fetal growth by regulating gas and nutrient exchange between the mother and the fetus. The cell type in the placenta where this nutrient exchange occurs is called the syncytiotrophoblast, which is the barrier between ...
William E. Gundling, Sasha Post, Nicholas P. Illsley, Lourdes Echalar, Stacy Zamudio, Derek E. Wildman   +5 more
doaj   +1 more source