Cargando…

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

Patients with Dunnigan disease (FPLD2) with a pathogenic variant affecting exon 8 of the LMNA gene are considered to have the classic disease, whereas those with variants in other exons manifest the “atypical” disease. The aim of this study was to investigate the degree of variable expressivity when...

Descripción completa

Detalles Bibliográficos
Autores principales:	Araújo-Vilar, David, Sánchez-Iglesias, Sofía, Castro, Ana I., Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Rodríguez-Carnero, Gemma, Casanueva, Felipe F., Fernández-Pombo, Antía
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8002937/ https://www.ncbi.nlm.nih.gov/pubmed/33803652 http://dx.doi.org/10.3390/jcm10061259

Ejemplares similares

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant
por: Araújo-Vilar, David, et al.
Publicado: (2021)

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
por: Fernandez-Pombo, Antia, et al.
Publicado: (2023)

Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
por: Fernández-Pombo, Antía, et al.
Publicado: (2023)

LipoDDx: a mobile application for identification of rare lipodystrophy syndromes
por: Araújo-Vilar, David, et al.
Publicado: (2020)

Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding
por: Sánchez-Iglesias, Sofía, et al.
Publicado: (2021)

Partial Lipodystrophy and LMNA p.R545H Variant
por: Magno, Silvia, et al.
Publicado: (2021)

Metreleptin therapy in LMNA-linked lipodystrophies
por: Vatier, Camille, et al.
Publicado: (2015)

Novel Heterozygous LMNA Variants Causing Familial Partial Lipodystrophy, Dunnigan Variety
por: Wadhwa, Akhilesh, et al.
Publicado: (2021)

Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants
por: Vasandani, Chandna, et al.
Publicado: (2022)

Waist circumference is independently associated with liver steatosis and fibrosis in LMNA-related and unrelated Familial Partial Lipodystrophy women
por: Viola, Luiz F., et al.
Publicado: (2023)

Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
por: Magno, Silvia, et al.
Publicado: (2020)

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis
por: Sahinoz, Melis, et al.
Publicado: (2018)

Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
por: Mahdi, Layth, et al.
Publicado: (2020)

Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation
por: Fountas, Athanasios, et al.
Publicado: (2017)

An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease
por: Panikkath, Ragesh, et al.
Publicado: (2016)

SUN-LB111 Comparison of Phenotype and Metabolic Abnormalities Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants
por: Vasandani, Chandna, et al.
Publicado: (2020)

Body Composition And Bone Mineral Differences According to Lamin A (LMNA) Genotype in Familial Partial Lipodystrophy Type 2
por: de Freitas, Maria Cristina Foss, et al.
Publicado: (2021)

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges
por: Chiquette, Elaine, et al.
Publicado: (2017)

Lipodystrophic laminopathies: Diagnostic clues
por: Guillín-Amarelle, Cristina, et al.
Publicado: (2018)

ECLip-the European consortium on lipodystrophies: an update
por: Araújo-Vilar, David
Publicado: (2015)

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant
por: Hussain, Iram, et al.
Publicado: (2020)

Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation
por: Ceccarini, G., et al.
Publicado: (2022)

LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile
por: Ignatieva, Elena V., et al.
Publicado: (2020)

SAT-087 Familial Generalized Lipodystrophy in Two Siblings Due to Homozygous p.Arg545His LMNA Mutation
por: Patni, Nivedita, et al.
Publicado: (2019)

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy
por: Soyaltin, Utku Erdem, et al.
Publicado: (2020)

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice
por: Mosbah, Héléna, et al.
Publicado: (2020)

A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation
por: Huang, Shipeng, et al.
Publicado: (2023)

Type 2 Diabetes With Partial Lipodystrophy of the Limbs: A new lipodystrophy phenotype
por: Strickland, Leah R., et al.
Publicado: (2013)

Diagnosis and treatment of lipodystrophy: a step-by-step approach
por: Araújo-Vilar, D., et al.
Publicado: (2018)

SUN-593 Variants in Known Monogenic Causal Genes of Hypertriglyceridemia Are Not Major Contributors for Hypertriglyceridemia in Lipodystrophy Due to a LMNA Mutation
por: Ueda, Masako, et al.
Publicado: (2020)

Epigenetic Effects of Healthy Foods and Lifestyle Habits from the Southern European Atlantic Diet Pattern: A Narrative Review
por: Lorenzo, Paula M, et al.
Publicado: (2022)

MON-482 Thyroid Tuberculosis - An Unlikely Diagnosis
por: Araújo, Alexandra Novais, et al.
Publicado: (2020)

LMNA p.R482W mutation related to FPLD2 alters SREBP1-A type lamin interactions in human fibroblasts and adipose stem cells
por: Buendia, Brigitte
Publicado: (2015)

Should we suspect primary aldosteronism in patients with hypokalaemic rhabdomyolysis? A systematic review
por: Díaz-López, Everardo Josué, et al.
Publicado: (2023)

Familial Partial Lipodystrophy (FPLD): Recent Insights
por: Bagias, Christos, et al.
Publicado: (2020)

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del
por: Madej-Pilarczyk, Agnieszka, et al.
Publicado: (2016)

Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome)
por: Corvillo, Fernando, et al.
Publicado: (2021)

Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy
por: Corvillo, Fernando, et al.
Publicado: (2018)

Evaluation of epicardial adipose tissue in familial partial lipodystrophy
por: Godoy-Matos, Amélio Fernando, et al.
Publicado: (2015)

SUN-556 Cardiac Phenotype in Familial Partial Lipodystrophy
por: Eldin, Abdelwahab Jalal, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_ro00tc0ma94hf3sarj1scmr7gk