Results 51 to 60 of about 2,696 (156)

Putative disease-causing variants in SUN1 and SUN2 in patients with EDMD-like phenotypes.

open access: yes, 2014
Putative disease-causing variants in SUN1 and SUN2 in patients with EDMD-like phenotypes.
Farhana Haque (484805)   +10 more
core   +1 more source

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

open access: yesFrontiers in Genetics, 2023
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar   +68 more
doaj   +1 more source

Convergence properties of dynamic mode decomposition for analytic interval maps

open access: yesCommunications on Pure and Applied Mathematics, Volume 79, Issue 2, Page 179-206, February 2026.
Abstract Extended dynamic mode decomposition (EDMD) is a data‐driven algorithm for approximating spectral data of the Koopman operator associated to a dynamical system, combining a Galerkin method with N$N$ functions and a quadrature method with M$M$ quadrature nodes.
Elliz Akindji   +3 more
wiley   +1 more source

Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy

open access: yesBiochemistry and Biophysics Reports, 2019
A-type lamins gene (LMNA) mutations cause an autosomal dominant inherited form of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is characterized by slowly progressive muscle weakness and wasting and dilated cardiomyopathy, often leading to heart failure-
Nicolas Vignier   +3 more
doaj   +1 more source

Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy [PDF]

open access: yes, 2015
Wstęp: Tkankowe inhibitory metaloproteinaz macierzy (TIMPs) są zaangażowane w patogenezę chorób układu sercowo-naczyniowego. Dotychczas nie badano stężenia TIMPs u pacjentów z kardiomiopatią rozstrzeniową w przebiegu dystrofii mięśniowej Emery’ego ...
Marchel, Michał; 1st Department of Cardiology, Warsaw Medical University, Warsaw, Poland   +4 more
core   +1 more source

Uncoordinated transcription and compromised muscle function in the lmna-null mouse model of Emery- Emery-Dreyfuss muscular dystrophy.

open access: yesPLoS ONE, 2011
LMNA encodes both lamin A and C: major components of the nuclear lamina. Mutations in LMNA underlie a range of tissue-specific degenerative diseases, including those that affect skeletal muscle, such as autosomal-Emery-Dreifuss muscular dystrophy (A-EDMD)
Viola F Gnocchi   +9 more
doaj   +1 more source

Crustal Structure of Laurentia and Peri‐Gondwanan Terranes Beneath Ireland and Britain and Comparison With Eastern North America

open access: yesJournal of Geophysical Research: Solid Earth, Volume 131, Issue 2, February 2026.
Abstract The Appalachian‐Caledonian orogen was built during the Paleozoic by accretion of peri‐Gondwanan terranes onto Laurentia, culminating in the formation of Pangea. During the Mesozoic, Pangea broke apart, displacing one section of the belt to eastern North America and another to northwestern Europe.
Roberto Masis   +4 more
wiley   +1 more source

EDMD for expanding circle maps and their complex perturbations

open access: yes, 2023
We show that spectral data of the Koopman operator arising from an analytic expanding circle map $\tau$ can be effectively calculated using an EDMD-type algorithm combining a collocation method of order m with a Galerkin method of order n.
Bandtlow, Oscar F.   +2 more
core  

MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells

open access: yesDisease Models & Mechanisms, 2017
Mutations in the gene encoding emerin cause Emery–Dreifuss muscular dystrophy (EDMD). Emerin is an integral inner nuclear membrane protein and a component of the nuclear lamina. EDMD is characterized by skeletal muscle wasting, cardiac conduction defects
Carol M. Collins   +2 more
doaj   +1 more source

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. [PDF]

open access: yesPLoS ONE, 2015
This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD).
Dandan Tan   +8 more
doaj   +1 more source

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