Results 21 to 30 of about 2,516,635 (116)

Update on Viral Gene Therapy Clinical Trials for Retinal Diseases [PDF]

, 2022
In 2001, the first large animal was successfully treated with a gene therapy that restored its vision. Lancelot, the Briard dog that was treated, suffered from a human childhood blindness called Leber's congenital amaurosis type 2.
Cheng, Shun-Yun, Punzo, Claudio
core   +1 more source

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

, 2022
\ua9 2022 British Neuropathological Society. Aims: Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF).
Trajanoski D, Hayhurst H, Guglieri M, Barresi R, Davis MR, Schaefer AM, Botero Gomez A, Johnsen R, Lamont PJ, Ravenscroft G, Laing NG, Moore U, Straub V, Folland C   +13 more
core   +4 more sources

A novel variant in DYSF gene: A case report

, 2020
The DYSF gene is located on chromosome 2p13, which spans a genomic region of more than 230 kbp and comprises 55 exons.It encodes a transmembrane protein DYSF which has been linked to membrane repair, Ca2+ signaling, cell adhesion, andangiogenesis ...
Ayhan, Raşit, Kardaş, Fatih, Baysal, Kübra, Dündar, Munis, Aktaş Paskal, Şeyma   +4 more
core   +1 more source

Intramuscular delivery of rAAV5.DYSF.

, 2012
4–6 week old dysferlin deficient mice were injected into the tibialis anterior muscle with 1011 vg of rAAV5.DYSF (n = 4 per group). Endpoint analysis occurred at 4 weeks post gene transfer and analyzed by histology, immunofluorescence and western blot ...
Chrystal L. Montgomery (157807), Vinod Malik (157794), Paul M. L. Janssen (139609), William E. Grose (157775), Jerry R. Mendell (157821), Kimberly M. Shontz (157801), Robert H. Brown Jr. (157813), Danielle Griffin (157787), K. Reed Clark (157780), Louise R. Rodino-Klapac (157827), Sarah Lewis (70866)   +10 more
core   +1 more source

Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]

, 2010
The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P., BSPAR Study Group, Barton, A., UKRAG Consortium, Worthington, J., Gardner-Medwin, J. [CAPS and BSPAR Study Groups], Thomson, W., W Thomson, Flynn, E., A Hinks, E Flynn, J Packham, Packham, J., Hinks, A., S Eyre, J Worthington, Eyre, S.; id_orcid, Eyre, S., Barton, A.; id_orcid, P Martin, Childhood Arthritis Prospective Study (CAPS), Martin, P.; id_orcid, A Barton   +22 more
core   +1 more source

rAAV5.DYSF delivered directly to Dysf^−/− diaphragm corrects tetanic force and resistance to fatigue.

, 2012
The diaphragm of 10 week old dysferlin deficient mice (129-Dysf−/−) (n = 6 per group) was treated with 1011 vg of rAAV5.DYSF via a peritoneal incision.
Chrystal L. Montgomery (157807), Vinod Malik (157794), Paul M. L. Janssen (139609), William E. Grose (157775), Jerry R. Mendell (157821), Kimberly M. Shontz (157801), Robert H. Brown Jr. (157813), Danielle Griffin (157787), K. Reed Clark (157780), Louise R. Rodino-Klapac (157827), Sarah Lewis (70866)   +10 more
core   +1 more source

Models of the complete DysF region of the Type-1 ferlins; dysferlin, myoferlin, and Fer1L5.

, 2022
The inner DysF domain is positioned at the left of each model, whereas the outer domain is positioned on the right side. The models of the complete DysF region have been colored as a gradient from blue to red to highlight the crossover topology of the ...
Jon J. McCord (11977550), Matthew J. Dominguez (13171020), R. Bryan Sutton (69050)   +2 more
core   +1 more source

Association Between Genetic Ancestry and Multiple Sclerosis Severity

Annals of Neurology, EarlyView.
Objective The objective of this study was to determine whether genetic ancestry is associated with differences in the clinical course of multiple sclerosis (MS). Methods Participants with MS living in the United Kingdom >18 years old were recruited from 2021 to 2025 and genotyped from saliva using a commercial array. Genetic ancestry was inferred using
Benjamin M. Jacobs, Emily Tregaskis‐Daniels, Luisa Schalk, Jakub Nagrodski, ADAMS investigators, Michelle Peter, Rashmi Kaimal, Roxanne Murray, Sadid Hoque, Terri‐Louise Brown, Ghaniah Hassan‐Smith, Helen L. Ford, Bruno Gran, Karim L. Kreft, Cord Spilker, Outi Quinn, David Rog, Miriam Mattoscio, Elisa Visentin, Ramya Shamji, Grace Fawehinmi, Katila George, Maria Papachatzaki, Katharine Harding, Rod Middleton, Tarunya Arun, Waqar Rashid, Adil Harroud, Huw R. Morris, Eli Silber, Gavin Giovannoni, Alastair J. Noyce, Ruth Dobson   +32 more
wiley   +1 more source

Genetic Association Studies in Hepatocellular Carcinoma: Systematic Meta‐Analyses, a Comprehensive Field Synopsis, and Epidemiological Evidence

MedComm, Volume 7, Issue 9, September 2026.
Based on meta‐analyses and cumulative epidemiological evidence, the present study identifies 11 genetic variants in 11 genes that are truly associated with the risk of hepatocellular carcinoma. Our work presents a systematic synopsis, which helps elucidate the mechanisms of carcinogenesis and provides insights into the early diagnosis and novel ...
Yujin Shi, Bin Huang, Xiaohong Liu, Yalan Liu, Qinyong Hu, Tianyu Lei, Luqi Tang, Guanglin Xiao, Tingting Ning, Shengqin Yue, Jiahui He, Qilian Du, Xuanmei Li, Yixuan Zhou, Qiongfang Zhang, Chunyan Qi, Hong Ren, Hong‐Gang Ren   +17 more
wiley   +1 more source

Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf tm1Kcam

, 2015
BACKGROUND: Mouse models of dysferlinopathies are valuable tools with which to investigate the pathomechanisms underlying these diseases and to test novel therapeutic strategies.
Kobuke, Kazuhiro, Sinnreich, Michael, Wiktorowicz, Tatiana, Jochen Kinter, Michael Sinnreich, Kinter, Jochen, Kazuhiro Kobuke, Campbell, Kevin P., Tatiana Wiktorowicz, Kevin P. Campbell   +9 more
core   +1 more source