Results 151 to 160 of about 3,486 (173)

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

Res Pract Thromb Haemost
Mohsenian S, Casini A, Peyvandi F.
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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

Phosphatidic acid drives spatiotemporal distribution of Pex30 at ER-LD contact sites. [PDF]

J Cell Biol
House M, Khadayat K, Trybala TN, Nambiar N, Jones E, Abel SM, Baccile J, Joshi AS.   +7 more
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Metabolic dysregulation contributes to the development of dysferlinopathy. [PDF]

Life Sci Alliance
Furrer R, Dilbaz S, Steurer SA, Santos G, Karrer-Cardel B, Ritz D, Sinnreich M, Handschin C.   +7 more
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Pex30-dependent membrane contact sites maintain ER lipid homeostasis. [PDF]

J Cell Biol
Ferreira JV, Ahmed Y, Heunis T, Jain A, Johnson E, Räschle M, Ernst R, Vanni S, Carvalho P.   +8 more
europepmc   +1 more source

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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.
Xiaokang, Zhang, Dingdong, He, Yang, Xiang, Chen, Wang, Bin, Liang, Boyu, Li, Daoxi, Qi, Qianyun, Deng, Hong, Yu, Zhibing, Lu, Fang, Zheng   +10 more
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In vivo DYSF gene viral delivery provides a histoprotective effect in skeletal muscle tissue in dysferlin-deficient mice

Bulletin of Experimental Biology and Medicine, 2022
We studied the effects of a dual-vector DYSF gene delivery system based on adeno-associated virus serotype 9 capsids on pathological manifestations of dysferlinopathy in skeletal muscles of Bla/J mice lacking DYSF expression. The mice received intravenous injection of 3×1013 genomic copies of the virus containing the dual-vector system.
I A, Yakovlev, O N, Chernova, M O, Mavlikeev, I S, Limaev, K A, Blagodatskikh, A A, Titova, A M, Aimaletdinov, A A, Shaimardanova, A A, Rizvanov, S N, Bardakov, A A, Isaev, R V, Deev   +11 more
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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
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New nucleotide sequence variants of the DYSF gene, identified by the next-generation sequencing

Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2023
Введение. Среди поясно-конечностных мышечных дистрофий (ПКМД) по частоте встречаемости дисферлинопатия занимает второе место в мире после кальпаинопатии. Заболевание характеризуется относительно поздней манифестацией, а сходная клиническая картина в группе ПКМД в ряде случаев создает значимые сложности в дифференциальной диагностике.
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