Cargando…

Fabry disease due to D313Y and novel GLA mutations

OBJECTIVES: Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature. SETTING AND PARTICIPANTS: Twenty-five family members of nine...

Descripción completa

Detalles Bibliográficos
Autores principales:	Koulousios, Konstantinos, Stylianou, Konstantinos, Pateinakis, Panagiotis, Zamanakou, Maria, Loules, Gedeon, Manou, Eleni, Kyriklidou, Parthena, Katsinas, Christos, Ouzouni, Alexandra, Kyriazis, John, Speletas, Matthaios, Germenis, Anastasios E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2017
Materias:	Genetics and Genomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640077/ https://www.ncbi.nlm.nih.gov/pubmed/28988177 http://dx.doi.org/10.1136/bmjopen-2017-017098

Ejemplares similares

Foxp3 expression in human cancer cells
por: Karanikas, Vaios, et al.
Publicado: (2008)

Correction: Fabry disease due to D313Y and novel GLA mutations
Publicado: (2018)

Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE)
por: Parsopoulou, Faidra, et al.
Publicado: (2022)

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y
por: Oder, Daniel, et al.
Publicado: (2016)

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor
por: Loules, Gedeon, et al.
Publicado: (2020)

FIP1L1-PDGFRA molecular analysis in the differential diagnosis of eosinophilia
por: Loules, Gedeon, et al.
Publicado: (2009)

Association of TLR4-T399I Polymorphism with Chronic Obstructive Pulmonary Disease in Smokers
por: Speletas, Matthaios, et al.
Publicado: (2009)

Persistent Activation of Innate Immunity in Patients with Primary Antibody Deficiencies
por: Tsinti, Gerasimina, et al.
Publicado: (2020)

Foxp3 Expression in Liver Correlates with the Degree but Not the Cause of Inflammation
por: Speletas, Matthaios, et al.
Publicado: (2011)

Heterozygous Alterations of TNFRSF13B/TACI in Tonsillar Hypertrophy and Sarcoidosis
por: Speletas, Matthaios, et al.
Publicado: (2013)

Cytolytic T-cell response against Epstein-Barr virus in lung cancer patients and healthy subjects
por: Karanikas, Vaios, et al.
Publicado: (2010)

Liver FOXP3 and PD1/PDL1 Expression is Down-Regulated in Chronic HBV Hepatitis on Maintained Remission Related to the Degree of Inflammation
por: Germanidis, Georgios, et al.
Publicado: (2013)

SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
por: Sevdali, Eirini, et al.
Publicado: (2017)

Functional evaluation of a novel GLA causative mutation in Fabry disease
por: Li, Ping, et al.
Publicado: (2019)

Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease
por: Varela, Patrícia, et al.
Publicado: (2019)

MBL2 Genotypes and Their Associations with MBL Levels and NICU Morbidity in a Cohort of Greek Neonates
por: Speletas, Matthaios, et al.
Publicado: (2015)

TACI Expression and Signaling in Chronic Lymphocytic Leukemia
por: Mamara, Antigoni, et al.
Publicado: (2015)

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
por: Duro, Giovanni, et al.
Publicado: (2018)

Fever of unknown origin in a haemodialysis patient: a late diagnosis requiring a novel treatment
por: Pateinakis, Panagiotis, et al.
Publicado: (2014)

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
por: Chaves-Markman, Ândrea Virgínia, et al.
Publicado: (2019)

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene
por: Hossain, Mohammad Arif, et al.
Publicado: (2019)

Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease
por: Chang, Wen-Hsin, et al.
Publicado: (2017)

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations
por: Alfen, Franziska, et al.
Publicado: (2022)

Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla(−/−) zebrafish model of Fabry disease
por: Elsaid, Hassan Osman Alhassan, et al.
Publicado: (2023)

The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant
por: Al-Obaide, Mohammed A., et al.
Publicado: (2022)

Renal variant of Fabry disease with sporadic GLA gene mutation: role of early renal biopsy
por: Al-Salam, Suhail, et al.
Publicado: (2012)

Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease?
por: Bittencourt, Marcelo Imbroinise
Publicado: (2019)

Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease
por: Kim, Ji-Hoon, et al.
Publicado: (2017)

An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene
por: Sarsam, Luay, et al.
Publicado: (2020)

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation
por: Valtola, Kati, et al.
Publicado: (2023)

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
por: Lukas, Jan, et al.
Publicado: (2012)

Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T
por: Godel, Tim, et al.
Publicado: (2020)

Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease
por: Kaneski, Christine R., et al.
Publicado: (2022)

The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants
por: Sánchez, Rosario, et al.
Publicado: (2023)

BAFF/APRIL System Is Functional in B-Cell Acute Lymphoblastic Leukemia in a Disease Subtype Manner
por: Sevdali, Eirini, et al.
Publicado: (2019)

Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation
por: Chien, Yueh, et al.
Publicado: (2016)

Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease
por: Song, Hui-Yung, et al.
Publicado: (2016)

Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease
por: Zhou, Chi, et al.
Publicado: (2018)

Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic ‘Detective’ Identifies the ‘Rogue’ Hidden in the GLA Gene
por: Kwon, Soonil, et al.
Publicado: (2019)

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing
por: Nowak, Albina, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_v31a01kfrv0fobp0bidonretng