Results 131 to 140 of about 2,287 (160)

Multiple sclerosis severity variant in <i>DYSF-ZNF638</i> locus associates with neuronal loss and inflammation. [PDF]

iScience
Engelenburg HJ, van den Bosch AMR, Chen JQA, Hsiao CC, Melief MJ, Harroud A, Huitinga I, Hamann J, Smolders J.   +8 more
europepmc   +1 more source

Limb-girdle muscular dystrophy type R2 manifesting as fetal growth restriction in a woman with two pregnancies: a case report. [PDF]

Gynecol Pelvic Med
Fu KY, Wei Q.
europepmc   +1 more source

Genomic structural variations contribute to inform prognosis in patients with cytogenetically normal acute myeloid leukemia. [PDF]

Blood Cancer J
Bartalucci N, Mannelli F, Tarantino D, Enderti A, Romagnoli S, Colazzo D, Scappini B, Gianfaldoni G, Piccini M, Signori L, Irushani F, Salmoiraghi S, Ottone T, Piciocchi A, Vannucchi M, Siciliano MC, Boccacci R, Orsi S, Civini A, Fazi P, Santi R, Vignetti M, Bortoluzzi S, Bosi A, Venditti A, Rambaldi A, Voso MT, Guglielmelli P, Vannucchi AM.   +28 more
europepmc   +1 more source

Pyroptosis-Related Molecular Clusters and Immune Infiltration in Pediatric Sepsis. [PDF]

Pediatric Health Med Ther
Lin M, Li C, Wang Y, Liu J, Ye H.
europepmc   +1 more source

The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice. [PDF]

Res Pract Thromb Haemost
Mohsenian S, Casini A, Peyvandi F.
europepmc   +1 more source

Whole-Genome Landscape of Retinal Hemangioblastomas. [PDF]

Transl Vis Sci Technol
Bals K, Hajjaj A, van Overdam KA, Veckeneer M, de Graaf BM, Eussen B, Brands T, Oldenburg RA, Alves MM, Verdijk RM, de Klein A, Kiliç E, Brosens E, Rotterdam Ocular Melanoma Study Group.   +13 more
europepmc   +1 more source

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene

Translational Research, 2022
Dysferlin (DYSF) has drawn much attention due to its involvement in dysferlinopathy and was reported to affect monocyte functions in recent studies. However, the role of DYSF in the pathogenesis of atherosclerotic cardiovascular diseases (ASCVD) and the regulation mechanism of DYSF expression have not been fully studied.
Qianyun Deng, Fang Zheng
exaly   +4 more sources

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

Neuroreport, 2001
The SJL mouse strain has been widely used as an animal model for experimental autoimmune encephalitis (EAE), inflammatory muscle disease and lymphomas and has also been used as a background strain for the generation of animal models for a variety of diseases including motor neurone disease, multiple sclerosis and atherosclerosis. Recently the SJL mouse
Vafiadaki, E., Reis, A., Keers, S., Harrison, R., Anderson, L. V. B., Raffelsberger, T., Ivanova, S., Hoger, H., Bittner, R. E., Bushby, K., Bashir, R.   +10 more
openaire   +5 more sources