Results 11 to 20 of about 2,516,635 (116)

Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy. [PDF]

Adv Biomed Res, 2023
BACKGROUND: The phenotypic range of limb-girdle muscular dystrophies (LGMDs) varies significantly because of genetic heterogeneity ranging from very mild to severe forms.
Arab F, Ahangari N, Malek H, Doosti M, Najarzadeh Torbati P, Ghayoor Karimiani E.   +5 more
europepmc   +2 more sources

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Genes (Basel), 2023
Dysferlinopathy covers a spectrum of muscle disorder categorized by two major phenotypes, namely Miyoshi muscular dystrophy type 1 (MMD1, OMIM #254130) and limb-girdle muscular dystrophy autosomal recessive 2 (LGMDR2, OMIM #253601), and two minor ...
Park J, Moon YJ, Kim DS.
europepmc   +2 more sources

Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities. [PDF]

Front Genet
Background: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf ...
Wang L, Zhou Y, Wei T, Huang H.
europepmc   +2 more sources

In Vitro Correction of Point Mutations in the <i>DYSF</i> Gene Using Prime Editing. [PDF]

Int J Mol Sci
Dysferlinopathy is caused by over 500 mutations in the gene encoding dysferlin, including close to 300 point mutations. One option to cure the disease is to use a gene therapy to correct these mutations at the root. Prime editing is a technique which can
Bouchard C, Rousseau J, Lamothe G, Dubost M, Bastrenta L, Ramezani S, Tremblay JP.   +6 more
europepmc   +2 more sources

Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report. [PDF]

Heliyon
Miyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the dysferlin (DYSF) gene. This disease presents with progressive distal lower limb weakness, such as gastrocnemius and soleus muscles resulting in difficulty
Aguirre AS, Romero VI.
europepmc   +2 more sources

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., Nicholas H Keep, Keep, Nicholas H., Altin Sula, Sula, Altin, Orengo, C., Ambrose R Cole, Corin Yeats, Yeats, C., Christine Orengo   +9 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 ...
Geddes, Stella M., Keep, Nicholas H., Bashir, R., Driscoll, P.C., Patel, P., Harris, R., Bushby, K., Watson, J.D., Strehle, E.M.   +8 more
core   +1 more source

Exon skipping in a dysf-missense mutant mouse model [PDF]

, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
García, Luis, Goyenvalle, A., Malcher, Jakub, Rachid Benchaouir, Luis García, Schöwel, Verena, Escobar, H., Schöwel, V., Spuler, S., Helena Escobar, Marg, A., Benchaouir, Rachid, Leonie Heidt, Heidt, Leonie, Cyriaque Beley, Bader, M., Verena Schöwel, Bader, Michael, Aurélie Goyenvalle, Michael Bader, García, L., Simone Spuler, Andreas Marg, Beley, Cyriaque, Malcher, J., Beley, C., Heidt, L., Spuler, Simone, Goyenvalle, Aurélie, Marg, Andreas, Escobar, Helena, Benchaouir, R., Jakub Malcher   +32 more
core   +1 more source

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy [PDF]

, 2018
Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Yokota, Toshifumi, Rika Maruyama, Duddy, William, Lee, Joshua, Sakurai, Hidetoshi, Maruyama, Rika, Joshua J.A. Lee, Hidetoshi Sakurai, William Duddy, Toshifumi Yokota   +9 more
core   +1 more source

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source