Gene Lmna
Mostrando 1-12 de 14 artigos, teses e dissertações.
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1. Inflammatory myopathy in the context of an unusual overlapping laminopathy
Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery–Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dys
Arch. Endocrinol. Metab.. Publicado em: 17/05/2018
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2. Distrofia muscular de cinturas em crianças brasileiras: caracterização clínica, histologia e molecular
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy, particularly in children. The clinical course in this group is characterized by progressive prox
Arq. Neuro-Psiquiatr.. Publicado em: 2014-06
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3. [ARTIGO PARCIALMENTE RETRATADO] Avaliação bioquímica, hormonal e genética das famílias de duas pacientes brasileiras portadoras de lipodistrofia parcial familiar tipo 2
OBJETIVO: Avaliar características clínicas, bioquímicas, hormonais e genéticas de familiares de duas pacientes portadoras de lipodistrofia parcial familiar (FPLD) tipo 2. MATERIAIS E MÉTODOS: Foram avaliados 50 indivíduos de duas famílias brasileiras não relacionadas a partir de dois propósitos com fenótipo de FPLD. Foi confirmada a mutação no é
Arq Bras Endocrinol Metab. Publicado em: 2013-11
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4. Lipodistrofia parcial familiar do tipo Dunnigan: atenção ao diagnóstico precoce
A lipodistrofia parcial familiar tipo Dunnigan é uma doença autossômica dominante rara. Em sua forma clássica, é resultante de uma mutação missense heterozigótica no gene LMNA, que codifica a proteína nuclear denominada lâmina tipo A/C. Caracteriza-se pelo desaparecimento progressivo do tecido adiposo subcutâneo nos membros, região glútea, abdom
Revista Brasileira de Ginecologia e Obstetrícia. Publicado em: 2011-02
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5. Lipoatrofia generalizada atípica e resistência insulínica grave devido à mutação p.T10I em heterozigose no gene LMNA
As lipodistrofias são um grupo heterogêneo de doenças caracterizadas por perda de tecido adiposo e complicações metabólicas. As formas hereditárias mais importantes de lipodistrofias são: lipodistrofia congênita generalizada e lipodistrofia parcial familiar (LDPF). LDPF resulta de mutações no gene LMNA que codificam as lâminas tipo A. Além da LD
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2008-11
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6. Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C–deficient mice
Laminopathies are a group of disorders caused by mutations in the LMNA gene that encodes the nuclear lamina proteins, lamin A and lamin C; their pathophysiological basis is unknown. We report that lamin A/C–deficient (Lmna–/–) mice develop rapidly progressive dilated cardiomyopathy (DCM) characterized by left ventricular (LV) dilation and reduced systo
American Society for Clinical Investigation.
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7. Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. The LMNA gene encoding two nuclear envelope proteins (lamins A and C [lamin A/C]) maps to chromosome 1q21 and has been associated with five distinct pathologi
The American Society of Human Genetics.
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8. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
Mutations in the lamin A/C gene (LMNA) cause a variety of human diseases including Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy, and Hutchinson-Gilford progeria syndrome. The tissue-specific effects of lamin mutations are unclear, in part because the function of lamin A/C is incompletely defined, but the many muscle-specific phenotypes suggest t
American Society for Clinical Investigation.
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9. The Role of Genetic Variation in the Lamin A/C Gene in the Etiology of Polycystic Ovary Syndrome
Objective: We performed this study to test the hypothesis that variation in the lamin a/c gene (LMNA) contributes to milder phenotypes of insulin resistance, hyperandrogenism, and/or metabolic syndrome associated with polycystic ovary syndrome (PCOS).
The Endocrine Society.
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10. Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice
ZMPSTE24 (also called FACE-1) is a zinc-metalloprotease involved in the post-translational processing of prelamin A to mature lamin A, a major component of the nuclear envelope. Mutations in the ZMPSTE24 gene or in that encoding its substrate prelamin A (LMNA) result in a series of human inherited diseases known collectively as laminopathies and showing regi
Blackwell Science Inc.
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11. Novel roles for A-type lamins in telomere biology and the DNA damage response pathway
A-type lamins are intermediate filament proteins that provide a scaffold for protein complexes regulating nuclear structure and function. Mutations in the LMNA gene are linked to a variety of degenerative disorders termed laminopathies, whereas changes in the expression of lamins are associated with tumourigenesis. The molecular pathways affected by alterati
Nature Publishing Group.
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12. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is characterized by dramatic premature aging and accelerated cardiovascular disease. HGPS is almost always caused by a de novo point mutation in the lamin A gene (LMNA) that activates a cryptic splice donor site, producing a truncated mutant protein termed “progerin.” WT prelamin
National Academy of Sciences.