Results 71 to 80 of about 5,143 (201)

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Molecular Therapy: Methods & Clinical Development, 2021
Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo, Eun Kyoung Kim, Jaeil Choi, Dae-Seong Kim, Jin-Hong Shin   +4 more
doaj   +1 more source

Dysferlin Exon 32 Skipping in Patient Cells [PDF]

, 2018
Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.
Barthelemy, Florian, Courrier, Sebastien, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc   +4 more
openaire   +3 more sources

Placental Dysferlin Expression is Reduced in Severe Preeclampsia [PDF]

Placenta, 2009
Dysferlin (DYSF) and myoferlin (MYOF), members of the ferlin family of membrane proteins, are co-expressed in human placental syncytiotrophoblast (STB). Although the role of these ferlin proteins in the placenta has yet to be established, it has been suggested that DYSF and MYOF may contribute to the stability of the apical STB plasma membrane.
C T, Lang, K B, Markham, N J, Behrendt, A A, Suarez, P, Samuels, D D, Vandre, J M, Robinson, W E, Ackerman   +7 more
openaire   +2 more sources

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy

Advanced Science, Volume 13, Issue 13, 3 March 2026.
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu, Zehua Zhang, Kai Zheng, Ziqi Zhu, Yong Zhu, Abdukahar Kiram, Lei Zhao, Huihui Chen, Zhu Xu, Xihua Li, Beicheng Sun, Zhijian Li, Dengqiu Xu   +12 more
wiley   +1 more source

Functions of Vertebrate Ferlins

Cells, 2020
Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
doaj   +1 more source

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

Genomics Insights Into High‐Latitude Adaptation of Tibetan Macaques

Advanced Science, Volume 13, Issue 14, 9 March 2026.
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Rusong Zhang, Ying Hu, Yang Teng, Jiwei Qi, Yangzhen Ciren, Lin Zhang, Qiao Du, Wencai Xu, Liang Zhou, Zhenxin Fan, Jinchuan Xing, Ming Li, Jing Li   +12 more
wiley   +1 more source

Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy

Molecular Therapy: Methods & Clinical Development, 2019
We delivered plasmid DNA encoding therapeutic genes to the muscles of mouse models of limb girdle muscular dystrophy (LGMD) 2A, 2B, and 2D, deficient in calpain3, dysferlin, and alpha-sarcoglycan, respectively.
Tuhin K. Guha, Christophe Pichavant, Michele P. Calos   +2 more
doaj   +1 more source

Arachidonic Acid/ppara Enhancement of Ca2+-Regulated Exocytosis in Antral Mucous Cells of Guinea Pig [PDF]

, 2010
N is known to be the most limiting element for vegetation growth in temperate and boreal forests. The expected increases in global temperature are predicted to accelerate N mineralization, therefore incrementing N availability in the soil and affecting ...
Aertsen, W., Di Cosmo, L., Gasparini, P., Gianelle, D., Marcolla, B., Martinez, C., Rodeghiero, M., Vescovo, L., Vesterdal, L.   +8 more
core   +1 more source

Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins [PDF]

Journal of Biological Chemistry, 2011
Dysferlin (DYSF) is a type II transmembrane protein implicated in surface membrane repair of muscle. Mutations in dysferlin lead to Limb Girdle Muscular Dystrophy 2B (LGMD2B), Miyoshi Myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (DMAT). The DYSF protein complex is not well understood, and only a few protein-binding partners have been
CACCIOTTOLO M, BELCASTRO V, LAVAL S, BUSHBY K, DI BERNARDO D, NIGRO, Vincenzo   +5 more
openaire   +5 more sources