Results 31 to 40 of about 4,375 (200)

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

Analysis of the DYSF mutational spectrum in a large cohort of patients. [PDF]

Human mutation, 2009
Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM).
Krahn, Martin, Béroud, Christophe, Labelle, Véronique, Nguyen, Karine, Bernard, Rafaelle, Bassez, Guillaume, Figarella-Branger, Dominique, Fernandez, Carla, Bouvenot, Julien, Richard, Isabelle, Ollagnon-Roman, Elisabeth, Bevilacqua, Jorge A, Salvo, Eric, Attarian, Shahram, Chapon, Françoise, Pellissier, Jean, Pouget, Jean, Hammouda, El Hadi, Laforet, Pascal, Urtizberea, Jon Andoni, Eymard, Bruno, Leturcq, France, Lévy, Nicolas   +22 more
openaire   +4 more sources

Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B

Journal of Lipid Research, 2018
Progressive limb and girdle muscle atrophy leading to loss of ambulation is a hallmark of dysferlinopathies, which include limb-girdle muscular dystrophy type 2B and Miyoshi myopathy.
Stephanie L. Sellers, Nadia Milad, Zoe White, Chris Pascoe, Rayleigh Chan, Geoffrey W. Payne, Chun Seow, Fabio Rossi, Michael A. Seidman, Pascal Bernatchez   +9 more
doaj   +1 more source

Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice

Skeletal Muscle, 2022
Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently demonstrated in typically mild dysferlin- and dystrophin-deficient mouse models that ...
Zoe White, Zeren Sun, Elodie Sauge, Dan Cox, Graham Donen, Dmitri Pechkovsky, Volker Straub, Gordon A. Francis, Pascal Bernatchez   +8 more
doaj   +1 more source

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 replace the mutated nucleotide with the wild-type nucleotide.
Bouchard C, Rousseau J, Lamothe G, Dubost M, Bastrenta L, Ramezani S, Tremblay JP.   +6 more
europepmc   +2 more sources

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

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

Sheathless hydrodynamic positioning of buoyant drops and bubbles inside microchannels [PDF]

, 2014
Particles, bubbles, and drops carried by a fluid in a confined environment such as a pipe can be subjected to hydrodynamic lift forces, i.e., forces that are perpendicular to the direction of the flow.
Caviezel, Daniel, Ellerbee, Audrey K., Guglielmini, Laura, Stan, Claudiu A., Stone, Howard A., Whitesides, George McClelland   +5 more
core   +1 more source

How Impulsivity is Related to Intelligence and Academic Achievement [PDF]

, 2005
El presente estudio analiza las relaciones existentes entre impulsividad, inteligencia y fracaso escolar en una muestra de 241 estudiantes de secundaria utilizando el test de Aptitudes Mentales Primarias de Thurstone (1938) y los cuestionarios de Dickman
Morales-vives, Fabia, Vigil-colet, Andreu   +1 more
core   +2 more sources

Genetic characterization of Limb Girdle Muscular Dystrophies and Pompe Disease in a large Argentine cohort

Neurology Perspectives, 2022
Introduction: The Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles.
M. Schiava, C. Marchesoni, M.L. García de Rosa, N. Estrada, L.L. Cejas, A. Pardal, L. Pirra, L. Repetto, A. Torres, A. Dubrovsky, R. Reisin   +10 more
doaj   +1 more source