Zobrazeno 1 - 10
of 62
pro vyhledávání: '"FPLD2"'
Autor:
Cynthia M. Valerio, Raquel Beatriz Gonçalves Muniz, Luiz F. Viola, Gabriela Bartzen Pereira, Rodrigo Oliveira Moreira, Marise Ribeiro de Sousa Berriel, Renan Magalhães Montenegro Júnior, Amélio F. Godoy-Matos, Lenita Zajdenverg
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionLipodystrophies are a group of disorders characterized by selective and variable loss of adipose tissue, which can result in an increased risk of insulin resistance and its associated complications. Women with lipodystrophy often have a h
Externí odkaz:
https://doaj.org/article/2feab01f0523464c92b894280b2046d2
Autor:
Elisa Schena, Elisabetta Mattioli, Chiara Peres, Laura Zanotti, Paolo Morselli, Patricia Iozzo, Maria Angela Guzzardi, Chiara Bernardini, Monica Forni, Salvatore Nesci, Massimiliano Caprio, Carolina Cecchetti, Uberto Pagotto, Elena Gabusi, Luca Cattini, Gina Lisignoli, William Blalock, Alessandra Gambineri, Giovanna Lattanzi
Publikováno v:
Cells, Vol 12, Iss 22, p 2586 (2023)
Type-2 Familial Partial Lipodystrophy (FPLD2), a rare lipodystrophy caused by LMNA mutations, is characterized by a loss of subcutaneous fat from the trunk and limbs and excess accumulation of adipose tissue in the neck and face. Several studies have
Externí odkaz:
https://doaj.org/article/ce99735e236c4a80ae4251f9d5cb37de
Autor:
Antia Fernandez-Pombo, Everardo Josue Diaz-Lopez, Ana I. Castro, Sofia Sanchez-Iglesias, Silvia Cobelo-Gomez, Teresa Prado-Moraña, David Araujo-Vilar
Publikováno v:
Cells, Vol 12, Iss 5, p 725 (2023)
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of this review was to explore the published data regarding the clinical c
Externí odkaz:
https://doaj.org/article/a73ac91d5f184d9cb7d96d85e0be43a8
Akademický článek
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Akademický článek
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Akademický článek
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Publikováno v:
Cells, Vol 9, Iss 9, p 1947 (2020)
Laminopathies are rare and heterogeneous diseases affecting one to almost all tissues, as in Progeria, and sharing certain features such as metabolic disorders and a predisposition to atherosclerotic cardiovascular diseases. These two features are th
Externí odkaz:
https://doaj.org/article/620945c1be8b45c68759786862d2e634
Autor:
Renan Magalhães Montenegro, Aline Dantas Costa-Riquetto, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Lucas Santos de Santana, Alexander Augusto de Lima Jorge, Lia Beatriz de Azevedo Souza Karbage, Lindenberg Barbosa Aguiar, Francisco Herlânio Costa Carvalho, Milena Gurgel Teles, Catarina Brasil d'Alva
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
Background: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the LMNA gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a gen
Externí odkaz:
https://doaj.org/article/127372d3b46c4b9c8268f408815b0046
Autor:
Nolwenn Briand, Inswasti Cahyani, Julia Madsen-Østerbye, Jonas Paulsen, Torunn Rønningen, Anita L. Sørensen, Philippe Collas
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 6 (2018)
At the nuclear periphery, the genome is anchored to A- and B-type nuclear lamins in the form of heterochromatic lamina-associated domains. A-type lamins also associate with chromatin in the nuclear interior, away from the peripheral nuclear lamina. T
Externí odkaz:
https://doaj.org/article/c546f6f1b167423ead0b3e398e2c660c
Publikováno v:
Frontiers in Genetics, Vol 8 (2017)
Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases (‘laminopathies’) including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome
Externí odkaz:
https://doaj.org/article/c08be1e98a3047f3924818498a741481