Results 111 to 120 of about 3,486 (173)

Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy [PDF]

, 2015
BACKGROUND: Anoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity. It was recently reported that mutations
Jing Xu, Kyle Floyd, Li Xu, Lixia Zhao, Mona El Refaey, Paul M. L. Janssen, Renzhi Han, Tallib Karaze, Yandi Gao   +8 more
core   +1 more source

Disferlinopaties i antecedents familiars [PDF]

, 2007
Les disferlinopaties, un tipus de distrofies musculars d'herència autosòmica recessiva, poden ser desenvolupades per persones que no tinguin antecedents familiars de la malaltia.
Illa Sendra, Isabel
core   +1 more source

Common dysregulation network in the human prefrontal cortex underlies two neurodegenerative diseases. [PDF]

, 2014
Using expression profiles from postmortem prefrontal cortex samples of 624 dementia patients and non-demented controls, we investigated global disruptions in the co-regulation of genes in two neurodegenerative diseases, late-onset Alzheimer's disease (AD)
Casaccia, Patrizia, Emilsson, Valur, Fan, Guoping, Huynh, Jimmy L, Johnson, Andrew D, Lamb, John R, McElwee, Joshua, Melquist, Stacey, Molony, Cliona, Narayanan, Manikandan, Schadt, Eric E, Stone, David J, Suver, Christine, Wang, Kai, Xie, Tao, Yang, Xia, Yoo, Seungyeul, Zhang, Bin, Zhang, Chunsheng, Zhu, Jun   +19 more
core   +3 more sources

Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico

Egyptian Journal of Medical Human Genetics
Introduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited muscular disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging.
Valentina Martínez-Montoya, Alejandro Martínez-Herrera, Oscar Mancera-Páez, Alberto Hidalgo-Bravo, María R. Rivera-Vega   +4 more
doaj   +1 more source

Expression profiling of genes related to asthma exacerbations [PDF]

, 2009
Background Asthma is a chronic airway inflammatory disease; however, the molecular mechanisms that underlie asthma exacerbation are only partially understood.Objective To identify gene expression signatures that reflect the acute exacerbation of asthma ...
Aoki T., Arinami T., Hirata K., Ichikawa K., Matsumoto Y., Noguchi E., Ochiai K., Okada M., Shibasaki M., Sumazaki R., 有波 忠雄, 野口 惠美子, 青木 健, 須磨崎 亮   +13 more
core   +1 more source

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy [PDF]

, 2016
Peer ...
Auranen, Mari, Kiuru-Enari, Sari, Kousi, Maria, Lamminen, Antti, Lehesjoki, Anna-Elina, Löfberg, Mervi, Mahjneh, Ibrahim, Muurinen , Tiina, Paetau, Anders, Piirilä, Päivi, Salmi, Tapani, Träskelin, Ann-Liz, Ylikallio, Emil   +12 more
core   +1 more source

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Biomolecules
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj   +1 more source

DYSF gene variant spectrum in Arab populations across eight countries: A systematic review

Biomolecules & Biomedicine
Dysferlinopathies are a subset of autosomal recessive muscular dystrophies resulting from pathogenic variants in the dysferlin (DYSF) gene. The prevalence of dysferlinopathies remains inadequately defined.
Fatimazahra Smaili, Khawla Zerrouki, Fatima Ezzahra Aouni, Mariam Tajir   +3 more
doaj   +1 more source

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

BMC Musculoskeletal Disorders
Background Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once ...
Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev   +11 more
doaj   +1 more source

Analysis of Exon Skipping Applicability for Dysferlinopathies

Cells
Exon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie, Sebastian Hernandez Rodriguez, Martin Krahn, Toshifumi Yokota   +3 more
doaj   +1 more source