Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sofia Sanchez-Iglesias"'
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
Autor:
Antía Fernández-Pombo, Sofía Sánchez-Iglesias, Ana I. Castro-Pais, Maria José Ginzo-Villamayor, Silvia Cobelo-Gómez, Teresa Prado-Moraña, Everardo Josué Díaz-López, Felipe F. Casanueva, Lourdes Loidi, David Araújo-Vilar
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
The rarity of lipodystrophies implies that they are not well-known, leading to delays in diagnosis/misdiagnosis. The aim of this study was to assess the natural course and comorbidities of generalised and partial lipodystrophy in Spain to contribute
Externí odkaz:
https://doaj.org/article/8bee3dd1adf64e52944b759c400a14de
Autor:
Silvia Cobelo-Gómez, Sofía Sánchez-Iglesias, Alberto Rábano, Ana Senra, Pablo Aguiar, Noemí Gómez-Lado, Lara García-Varela, Iván Burgueño-García, Laura Lampón-Fernández, Antía Fernández-Pombo, Everardo Josué Díaz-López, Teresa Prado-Moraña, Beatriz San Millán, David Araújo-Vilar
Publikováno v:
Neurobiology of Disease, Vol 187, Iss , Pp 106300- (2023)
Celia's encephalopathy or progressive encephalopathy with/without lipodystrophy is a neurodegenerative disease with a fatal prognosis in childhood. It is generally caused by the c.985C > T variant in the BSCL2 gene, leading to the skipping of exon 7
Externí odkaz:
https://doaj.org/article/0cf182812fae411f97db2870888c7d1d
Autor:
David Araújo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Ángel Martínez-Olmos, Ana Cantón, Rocío Villar-Taibo, Álvaro Hermida-Ameijeiras, Alicia Santamaría-Nieto, Carmen Díaz-Ortega, Carmen Martínez-Rey, Antonio Antela, Elena Losada, Andrés E. Muy-Pérez, Blanca González-Méndez, Sofía Sánchez-Iglesias
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of the HIV-associated li
Externí odkaz:
https://doaj.org/article/8461b38fdc1c400c8b434208e4dcf593
Autor:
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F. Casanueva, David Araújo-Vilar
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 62, Iss 3, Pp 376-382 (2018)
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 lipody
Externí odkaz:
https://doaj.org/article/b68dc6605c864d61bc1df3bcd6f822c1
Publikováno v:
Anales de Pediatría, Vol 93, Iss 4, Pp 270-271 (2020)
Externí odkaz:
https://doaj.org/article/098426b7bc894e3e871943d210df6ace
Autor:
Alejandro Ruiz-Riquelme, Sofía Sánchez-Iglesias, Alberto Rábano, Encarna Guillén-Navarro, Rosario Domingo-Jiménez, Adriana Ramos, Isaac Rosa, Ana Senra, Peter Nilsson, Ángel García, David Araújo-Vilar, Jesús R. Requena
Publikováno v:
Neurobiology of Disease, Vol 83, Iss , Pp 44-53 (2015)
Celia's Encephalopathy (MIM #615924) is a recently discovered fatal neurodegenerative syndrome associated with a new BSCL2 mutation (c.985C>T) that results in an aberrant isoform of seipin (Celia seipin). This mutation is lethal in both homozygosity
Externí odkaz:
https://doaj.org/article/0eeb5282a371446a80ac9d94445bca0a
Autor:
Sofía Sánchez-Iglesias, Alexander Unruh-Pinheiro, Cristina Guillín-Amarelle, Blanca González-Méndez, Alejandro Ruiz-Riquelme, Blanca Leticia Rodríguez-Cañete, Silvia Rodríguez-García, Encarnación Guillén-Navarro, Rosario Domingo-Jiménez, David Araújo-Vilar
Publikováno v:
PLoS ONE, Vol 11, Iss 7, p e0158874 (2016)
PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c.985C>T, that results in an aberrant transcript without the exon 7 (Celia sei
Externí odkaz:
https://doaj.org/article/f1ab8f95bec942f2a420271d3e3b8676