Results 41 to 50 of about 3,486 (173)

Association studies and direct DNA sequencing implicate some known genetic susceptibility loci in the etiology of nonsyndromic orofacial clefts in sub-Saharan African populations [PDF]

, 2016
Orofacial clefts (OFCs) are congenital dysmorphologies of the human face and oral cavity, with a global incidence of 1 per 700 live births. These anomalies exhibit multifactorial pattern of inheritance, with both genetic and environmental factors playing
A. Butali, A. Martinez, A.A. Adeyemo, A.A. Oti, B. Aregbesola, C.J. Buxó, E.A. Augustine-Akpan, F. Abate, F.K.N. Arthur, G. Plange-Rhule, G.O. Oseni, Gorlin RJ, J. Olutayo, J.C. Murray, L. Abdur-Rahman, L.J.J. Gowans, Liang J, M. Deribew, M. Eshete, M. Gesses, M. Li, M.L. Marazita, M.O. Ogunlewe, P. Agbenorku, P. Donkor, P. Gravem, P. Twumasi, P.A. Mossey, P.B. Olaitan, Pan X, R. Braimah, S. Obiri-Yeboah, S.A. Bello, T. Busch, T. Hailu, W. Deressa, W.L. Adeyemo, Weatherley-White RC   +37 more
core   +2 more sources

High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil

Current Genomics, 2023
Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF). Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF
Motta, Isabella A., Gouveia, Maria L.A., Braga, Ana P.M., Andrade, Rafael S., Montenegro, Mayra F.F., Gurgel, Sandra N., Albuquerque, Keila M.F., Souto, Priscilla A.N.G., Cardoso, Flávia P.B.F., Araujo, Joseane S., Pinheiro, Mirella C.L., da Silva, Carlos E.P., Gurgel, Pamella A.S., Feder, David, Perez, Matheus M., da Veiga, Glaucia L., Alves, Beatriz C.A., Fonseca, Fernando L.A., Carvalho, Alzira A.S.   +18 more
openaire   +2 more sources

A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing

Molecular Genetics & Genomic Medicine, 2023
Background Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein. Methods We performed exome sequencing and subsequent trio‐based
Huan Li, Liang Wang, Cheng Zhang
doaj   +1 more source

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

Acta Neuropathologica Communications, 2023
Dysferlin is a Ca2+-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy.
Joe Yasa, Claudia E. Reed, Adam M. Bournazos, Frances J. Evesson, Ignatius Pang, Mark E. Graham, Jesse R. Wark, Brunda Nijagal, Kim H. Kwan, Thomas Kwiatkowski, Rachel Jung, Noah Weisleder, Sandra T. Cooper, Frances A. Lemckert   +13 more
doaj   +1 more source

Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy [PDF]

, 2010
Background The administration of rituximab (RTX) in vivo results in B-cell depletion, but evidence for multiple mechanisms of action have been reported.
Alberto Lerario, Filippo Cogiamanian, Chiara Marchesi, Marzia Belicchi, Nereo Bresolin, Laura Porretti, Yvan Torrente   +6 more
core   +2 more sources

Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene [PDF]

Journal of Korean Medical Science, 2006
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea.
Cho, Hyun-Jung, Sung, Duck Hyun, Kim, Eun-Jin, Yoon, Chul Ho, Ki, Chang-Seok, Kim, Jong-Won   +5 more
openaire   +2 more sources

Association of Functional Gene Variants in DYSF-ZNF638, MTSS1 and Ferroptosis-Related Genes with Multiple Sclerosis Severity and Target Gene Expression. [PDF]

Int J Mol Sci
Multiple sclerosis (MS) is a chronic inflammatory, neurodegenerative disease with yet-unresolved mechanisms of progression. To address MS severity and neurological deficits, we analyzed seven potentially functional genetic variants and their haplotypes in 845 MS patients.
Djuric T, Djordjevic A, Kuveljic J, Stefanovic M, Dincic E, Kolakovic A, Zivkovic M.   +6 more
europepmc   +3 more sources

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. [PDF]

, 2015
BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different
Fischer, D., Huebner, A., Jung, H.H., Kana, V., Kress, W., Kuntzer, T., Lobrinus, J.A., Petersen, J.A., Rushing, E.J., Sinnreich, M., von der Hagen, M.   +10 more
core   +3 more sources

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene [PDF]

Human Mutation, 2011
Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited neuromuscular disorders.
Blandin, Gaëlle, Béroud, Christophe, Labelle, Veronique, Nguyen, Karine, Wein, Nicolas, Hamroun, Dalil, Williams, Brad, Monnier, Nilah, Rufibach, Laura E., Urtizberea, Jon Andoni, Cau, Pierre, Bartoli, Marc, Lévy, Nicolas, Krahn, Martin   +13 more
openaire   +3 more sources

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

BMC Evolutionary Biology, 2010
Background The ferlin gene family possesses a rare and identifying feature consisting of multiple tandem C2 domains and a C-terminal transmembrane domain.
Lek Monkol, Lek Angela, North Kathryn N, Cooper Sandra T   +3 more
doaj   +1 more source