Results 31 to 40 of about 6,801 (167)

Cytokines in Emery-Dreifuss muscular dystrophy: Possible pathogenetic markers and targets for treatment of disease [PDF]

, 2015
La distrofia muscolare di Emery-Dreifuss (EDMD) è una miopatia degenerativa ereditaria caratterizzata da debolezza e atrofia dei muscoli senza coinvolgimento del sistema nervoso.
Prencipe, Sabino <1985>
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Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations [PDF]

, 2004
[Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC,
Bouzas-Zubeldia, Beatriz, Castro-Beiras, Alfonso, Crespo-Leiro, María Generosa, Hermida-Prieto, Manuel, Laredo, Rafael, Monserrat, Lorenzo, Muñiz, Javier, Peteiro-Vázquez, Jesús, Rodríguez, Esther, Soler Fernández, Rafaela, Álvarez-García, Nemesio   +10 more
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A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

BMC Medical Genetics, 2017
Background In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinically manifests as muscle ...
Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang, Jiewen Zhang   +8 more
doaj   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

Distrofia muscular de Emery-Dreifuss: a propósito de um caso clínico

Revista Portuguesa de Cardiologia, 2012
Resumo: A distrofia muscular de Emery Dreifuss tipo 1 (DMED1) é uma doença familiar, com transmissão recessiva ligada ao X, resultante da mutação de uma proteína do invólucro nuclear, a emerina.
Fátima Saraiva, Dina Rodrigues, Helena Andrade, Luís Negrão, Lino Gonçalves, António Marinho, Luís A. Providência   +6 more
doaj   +1 more source

Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis [PDF]

, 2004
Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease.
Bridger, JM, Kill, IR
core   +1 more source

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
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Mouse models of nesprin-related diseases [PDF]

, 2018
Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope,
Akinrinade, Arsenovic, Attali, Baird, Banerjee, Baumann, Baye, Behrens, Can Zhou, Catherine M. Shanahan, Chen, Crisp, Derek T. Warren, Djinovic Carugo, Duong, Espigat-Georger, Fanin, Fridolfsson, Gimpel, González, Gough, Grady, Green, Gros-Louis, Guilluy, Haque, Haskell, Hockemeyer, Holt, Horn, Horn, Izumi, Johnson, Ketema, Ketema, Kosodo, Laquerriere, Lee, Lee, Li Rao, Lindeman, Luke, Mellad, Merrell, Mislow, Mitzner, Morgan, Morimoto, Neumann, Noreau, O'Roak, Olins, Ozaki, Puckelwartz, Puckelwartz, Qiuping Zhang, Rajgor, Rajgor, Razafsky, Razafsky, Razafsky, Razafsky, Razafsky, Rosenberg-Hasson, Roux, Shindo, Sosa, Sosa, Starr, Stierle, Stroud, Synofzik, Taniura, van Berlo, Voit, Warren, Warren, Wilhelmsen, Wilson, Winder, Wynshaw-Boris, Yang, Yu, Yu, Zhang, Zhang, Zhang, Zhang, Zhang, Zhang, Zhen, Zhong, Zhou, Zhou   +93 more
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The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
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Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery–Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln

Stem Cell Research, 2020
Human iPSC lines were generated from peripheral blood mononuclear cells of patient carrying LMNA mutation associated with Emery–Dreifuss muscular dystrophy accompanied by atrioventricular block and paroxysmal atrial fibrillation.
Kseniya Perepelina, Aleksandra Kostina, Polina Klauzen, Aleksandr Khudiakov, Martina Rabino, Silvia Crasto, Anna Zlotina, Yulia Fomicheva, Alexey Sergushichev, Mari Oganesian, Alexander Dmitriev, Anna Kostareva, Elisa Di Pasquale, Anna Malashicheva   +13 more
doaj   +1 more source