Results 181 to 190 of about 5,061 (213)

Striated muscle laminopathies

Seminars in Cell & Developmental Biology, 2014
Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of ...
Feriel, Azibani, Antoine, Muchir, Nicolas, Vignier, Gisèle, Bonne, Anne T, Bertrand   +4 more
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Laminopathies: Multisystem dystrophy syndromes

Molecular Genetics and Metabolism, 2006
Laminopathies are a heterogeneous group of genetic disorders due to abnormalities in type A lamins and can manifest varied clinical features affecting many organs including the skeletal and cardiac muscle, adipose tissue, nervous system, cutaneous tissue, and bone.
Katherine N, Jacob, Abhimanyu, Garg
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Laminopathies in Russian families

Clinical Genetics, 2008
Mutations in LMNA gene produce a wide spectrum of disorders called laminopathies. In this article, the first cases of laminopathies from Russia are reported. In 10 unrelated families, 9 different mutations were identified: Asp47His, Gly232Arg, c.[781_783delAAG, 781insGTGGAGCAGTATAAGAAA], Arg249Gln (in two families), Arg377His, Arg541His, Ala350Pro ...
G E, Rudenskaya, A V, Polyakov, S M, Tverskaya, E V, Zaklyazminskaya, A L, Chukhrova, O E, Groznova, E K, Ginter   +6 more
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Laminopathies and lamin‐associated signaling pathways

Journal of Cellular Biochemistry, 2011
AbstractLaminopathies are genetic diseases due to mutations or altered post‐translational processing of nuclear envelope/lamina proteins. The majority of laminopathies are caused by mutations in the LMNA gene, encoding lamin A/C, but manifest as diverse pathologies including muscular dystrophy, lipodystrophy, neuropathy, and progeroid syndromes.
Cristina Capanni, Vittoria Cenni, Milena Fini   +2 more
exaly   +5 more sources

Restrictive dermopathy: a rare laminopathy

Archives of Gynecology and Obstetrics, 2008
Restrictive dermopathy (RD) belongs to the laminopathies and mostly shows an autosomal recessive heredity pattern. This rare genetic disorder is lethal for the newborn in the neonatal period. Clinical and pathological findings are distinctive and allow for a specific diagnosis in most cases.
Marc, Thill, Thuy Duong, Nguyen, Manfred, Wehnert, Dorothea, Fischer, Ingrid, Hausser, Susanne, Braun, Christian, Jackisch   +6 more
openaire   +2 more sources

The laminopathies: a clinical review

Clinical Genetics, 2006
The laminopathies are a diverse group of conditions caused by mutations in the LMNA gene (MIM*150330). LMNA encodes the nuclear envelope proteins lamin A and lamin C by utilization of an alternative splice site in exon 10. The human LMNA gene was identified in 1986 but it was another 13 years before it was found to be the causative gene for a disease ...
J, Rankin, S, Ellard
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Involvement of Prelamin A in Laminopathies

Critical Reviews™ in Eukaryotic Gene Expression, 2007
The precursor protein of the nuclear lamina constituent lamin A is a 74-kDa protein called prelamin A which undergoes subsequent steps of posttranslational modification at its C-terminal CaaX residue. The unexpected finding that accumulation of unprocessable prelamin A is the molecular basis of the most severe laminopathies so far identified, including
Maraldi NM, Lattanzi G
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Emerinopathies and Laminopathies

2013
Emerinopathies and laminopathies are disorders caused by alterations in genes coding for ubiquitous proteins of the nuclear envelope.
Nicola Carboni, Marco Mura
openaire   +1 more source

Genetics of laminopathies.

Novartis Foundation symposium, 2005
Laminopathies are now recognized as a group of disorders due to mutations of the LMNA gene, which encodes A-type lamins. Primarily, mutations in LMNA have been associated to the autosomal forms of Emery-Dreifuss muscular dystrophy, a rare slowly progressive humero-peroneal muscular dystrophy accompanied by early contractures and dilated cardiomyopathy ...
Rabah, Ben Yaou, Antoine, Muchir, Takuro, Arimura, Catherine, Massart, Laurence, Demay, Pascale, Richard, Gisèle, Bonne   +6 more
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Recent insights in striated muscle laminopathies

Current Opinion in Neurology
Purpose of review To highlight recent insights in different aspects of striated muscle laminopathies (SMLs) related to LMNA mutations. Recent findings Clinical and genetic studies allow better patient management and diagnosis, with confirmation of ventricular tachyarrhythmias (VTA ...
Marine, Leconte, Gisèle, Bonne, Anne T, Bertrand   +2 more
openaire   +2 more sources