Results 41 to 50 of about 2,287 (160)

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

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

Assessment of Genetic Mutations DMD, DYSF, EMD, LMNA, DUX4, DMPK, ZNF9, PABPN1 Genes Induction Duchenne Muscular Dystrophy [PDF]

SOJ Immunology, 2017
Shahin Asadi
openaire   +2 more sources

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

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

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

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

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