Results 21 to 30 of about 3,486 (173)

Assessment of physiological parameters in the application of a double adeno-associated virus 9 with a codon-optimized DYSF gene for limb girdle muscular dystrophy type R2

Research Results in Pharmacology
Introduction: Gene therapy for Myoshi myopathy is extremely relevant, as it may become the first pathogenetic treatment for dysferlinopathy. The aim of this study was to study the efficacy and safety of the use of a genetic construct, the AAV9-DYSF-DV3 ...
Elеna V. Kuzubova, Alexandra I. Radchenko, Andrey А. Manuylov, Ariana M. Korokina, Natalia V. Koroleva, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Mikhail V. Korokin   +8 more
doaj   +2 more sources

Cosegregation of congenital dysferlinopathy phenotype and marinesco–sjögren syndrome: a case report with literature review [PDF]

BMC Pediatrics
The congenital dysferlinopathy phenotype is the rarest and earliest manifestation variant, described in two closely related Spanish and Turkish families, with a homozygous pathogenic frameshift variant in exon 26 of the DYSF gene. This article presents a
Sergey N. Bardakov, Alexey M. Emelin, Sergey S. Nikitin, Vasiliy М. Suslov, Ivan V. Dmitrochenko, Irina S. Kovalevskaya, Polina R. Korzun, Ivan A. Yakovlev, Аrtur А. Isaev, Roman V. Deev   +9 more
doaj   +2 more sources

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies. [PDF]

Eur J Neurol
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
Payá M, Portela S, Sivera R, Frasquet M, Más-Estellés F, Martí P, Azorín I, Aragon-Gawinska K, Tárrega M, Argente-Escrig H, Vázquez-Costa JF, Vilchez R, Vilchez JJ, Sevilla T, Muelas N.   +14 more
europepmc   +2 more sources

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods [PDF]

Scientific Reports
Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspected NMDs over 11
Negar Molaei, Parnian Alagha, Ali Khanbazi, Maryam Beheshtian, Fatemeh Ahangari, Shima Dehdahsi, Mahsa Fadaee, Mehri Ashki, Zhila Ghaderi, Zohreh Elahi, Raheleh Vazehan, Elham Parsimehr, Maryam Mozaffarpour Nouri, Parishad Saei, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Ayda Abolhassani, Fariba Afroozan, Hilda Yazdan, Masoumeh Akbari Kelishomi, Maryam Azad, Farshid Parvini, Seyed Mehrdad Kassaee, Mahtab Ramezani, Fariba Zemorshidi, Houman Salimipour, Siamak Abdi, MohammadKazem Bakhshandeh, Afshin Fayyazi, Gholamreza Zamani, Mahmoud Reza Ashrafi, Payman Jamali, Payam Sarraf, Ali Asghar Okhovat, Bahram Haghi Ashtiani, Farzad Fatehi, Parvaneh Karimzadeh, Shahriar Nafissi, Kimia Kahrizi, Ariana Kariminejad, Hossein Najmabadi   +41 more
doaj   +2 more sources

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy. [PDF]

Saudi Med J, 2017
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad ...
Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ.   +8 more
europepmc   +3 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 symptoms, including asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT, OMIM ...
Park J, Moon YJ, Kim DS.
europepmc   +3 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 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

Bioinformatics analysis identifies BST1 as a potential therapeutic target linked to neutrophil extracellular traps in patients with acute liver failure [PDF]

Scientific Reports
Acute on chronic liver failure (ACLF) is a critical condition with a high mortality rate; however, the underlying mechanisms driving its progression remain poorly understood.
Mengyu Tao, Jiwei Fu, Xiaoping Wu
doaj   +2 more sources

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Biomedicines, 2023
Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli   +8 more
doaj   +1 more source

Dysregulation of testis mRNA expression levels in hatchery-produced vs wild greater amberjack Seriola dumerili

Scientific Reports, 2023
Reproductive dysfunctions have been recently documented in male greater amberjack Seriola dumerili caught from the wild and reared in captivity. In the present study, we compared testis transcriptome in wild fish (WILD), hatchery-produced fish with ...
Anna Lavecchia, Caterina Manzari, Chrysovalentinos Pousis, Luigi Mansi, Sharon N. Cox, Constantinos C. Mylonas, Rosa Zupa, Claudio Lo Giudice, Caterina De Virgilio, Ernesto Picardi, Gianluca Ventriglia, Graziano Pesole, Aldo Corriero   +12 more
doaj   +1 more source