Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred

Autor: Francisco Herlânio Costa Carvalho, Milena Gurgel Teles, Lia Beatriz de Azevedo Souza Karbage, Catarina Brasil d’Alva, Alexander A. L. Jorge, Lindenberg Barbosa Aguiar, Lucas Santos de Santana, Renan Magalhães Montenegro, Aline Dantas Costa-Riquetto, Ana Paula Dias Rangel Montenegro, Virgínia Oliveira Fernandes

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Repositório Institucional da Universidade Federal do Ceará (UFC)
Universidade Federal do Ceará (UFC)
instacron:UFC
Frontiers in Endocrinology, Vol 9 (2018)
Frontiers in Endocrinology

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6900e730e2655d2fe0fddef770a78ae

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Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.

Autor: Montenegro, Renan Magalhães, Costa-Riquetto, Aline Dantas, Fernandes, Virgínia Oliveira, Montenegro, Ana Paula Dias Rangel, Santana, Lucas Santos de, Jorge, Alexander Augusto de Lima, Karbage, Lia Beatriz de Azevedo Souza, Aguiar, Lindenberg Barbosa, Carvalho, Francisco Herlânio Costa, Teles, Milena Gurgel, d'Alva, Catarina Brasil

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Autor: Dieudé, P., Bouaziz, M., Guedj, M., Riemekasten, G., Airò, P., Müller, M., Cusi, D., Matucci-Cerinic, M., Melchers, I., Koenig, W., Salvi, E., Wichmann, H. E., Cuomo, G., Hachulla, E., Diot, E., Hunzelmann, N., Caramaschi, P., Mouthon, L., Riccieri, V., Distler, J.

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Functional mesenchymal stem cell niches in adult mouse knee joint synovium in vivo.

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