Cargando…

Involvement of the Modifier Gene of a Human Mendelian Disorder in a Negative Selection Process

BACKGROUND: Identification of modifier genes and characterization of their effects represent major challenges in human genetics. SAA1 is one of the few modifiers identified in humans: this gene influences the risk of renal amyloidosis (RA) in patients with familial Mediterranean fever (FMF), a Mende...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jéru, Isabelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Cochet, Emmanuelle, Serre, Jean-Louis, Feingold, Josué, Grateau, Gilles, Sarkisian, Tamara, Jeanpierre, Marc, Amselem, Serge
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765618/ https://www.ncbi.nlm.nih.gov/pubmed/19888326 http://dx.doi.org/10.1371/journal.pone.0007676

Ejemplares similares

Role of IL-1b in NLRP12-associated autoinflammatory disorders and resistance to anti-IL-1 therapy
por: Jeru, Isabelle, et al.
Publicado: (2011)

The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach
por: Jéru, Isabelle, et al.
Publicado: (2013)

Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders
por: Jéru, Isabelle, et al.
Publicado: (2013)

FMF in heterozygotes: are we able to accurately diagnose the disease in very young children?
por: Hentgen, Véronique, et al.
Publicado: (2011)

OR2-002 – The risk of FMF in MEFV heterozygotes
por: Jéru, I, et al.
Publicado: (2013)

PW01-032 – FMF-like state: genetic factors unrelated to MEFV
por: Babikyan, D, et al.
Publicado: (2013)

P02-014 - Consequences of Arginine 92 mutations in TNFR1
por: Jéru, I, et al.
Publicado: (2013)

PW03-034 – How to classify autoinflammatory diseases?
por: Grateau, G, et al.
Publicado: (2013)

Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages
por: Jumeau, Claire, et al.
Publicado: (2019)

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders
por: Jéru, I, et al.
Publicado: (2013)

PW01-022 – Dissociation between CRP and SAA in FMF
por: Stojanovic, K Stankovic, et al.
Publicado: (2013)

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation
por: Awad, Fawaz, et al.
Publicado: (2017)

Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF
por: Moradian, Mike M., et al.
Publicado: (2017)

Oriented Scanning Is the Leading Mechanism Underlying 5′ Splice Site Selection in Mammals
por: Borensztajn, Keren, et al.
Publicado: (2006)

The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome
por: Ilaslan, Erkut, et al.
Publicado: (2020)

A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features
por: Jéru, I, et al.
Publicado: (2015)

Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever
por: Awad, Fawaz, et al.
Publicado: (2015)

The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event
por: Awad, Fawaz, et al.
Publicado: (2019)

Bacillus cereus ATCC 14579 RpoN (Sigma 54) Is a Pleiotropic Regulator of Growth, Carbohydrate Metabolism, Motility, Biofilm Formation and Toxin Production
por: Hayrapetyan, Hasmik, et al.
Publicado: (2015)

Comparative Genomics of Iron-Transporting Systems in Bacillus cereus Strains and Impact of Iron Sources on Growth and Biofilm Formation
por: Hayrapetyan, Hasmik, et al.
Publicado: (2016)

PW01-034 – Clinical-genetic investigation of FMF in Armenia
por: Hayrapetyan, H, et al.
Publicado: (2013)

Genetic Modifiers and Rare Mendelian Disease
por: Rahit, K. M. Tahsin Hassan, et al.
Publicado: (2020)

P01-041 – Patient management and rare FMF symptoms
por: Moradian, MM, et al.
Publicado: (2013)

Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever
por: Awad, F, et al.
Publicado: (2015)

Rotor Syndrome Presenting as Dubin-Johnson Syndrome
por: Morais, Mariana, et al.
Publicado: (2022)

The Multifaceted Role of Epoxide Hydrolases in Human Health and Disease
por: Gautheron, Jérémie, et al.
Publicado: (2020)

Modifiable pathways in Alzheimer’s disease: Mendelian randomisation analysis
por: Larsson, Susanna C, et al.
Publicado: (2017)

Vasculitis associated with familial Mediterranean fever: a study on 16 french adult cases
por: Abbara, S, et al.
Publicado: (2015)

Editorial: Endocrine and metabolic diseases – genetic impact and therapies
por: Jéru, Isabelle, et al.
Publicado: (2022)

Modifiable pathways for colorectal cancer: a mendelian randomisation analysis
por: Cornish, Alex J, et al.
Publicado: (2019)

Modifiable factors for migraine prophylaxis: A mendelian randomization analysis
por: Zheng, Hui, et al.
Publicado: (2023)

Group size planning for breedings of gene-modified mice and other organisms following Mendelian inheritance
por: Milchevskaya, Vladislava, et al.
Publicado: (2023)

Draft Whole-Genome Sequences of 11 Bacillus cereus Food Isolates
por: Hayrapetyan, Hasmik, et al.
Publicado: (2016)

The role of anticoagulation in preventing myocardial infarction and improving outcomes in COVID-19 patients
por: Chilingaryan, Tigran, et al.
Publicado: (2021)

Modifiable Lifestyle Factors and Risk of Stroke: A Mendelian Randomization Analysis
por: Harshfield, Eric L., et al.
Publicado: (2021)

Insights into modifiable risk factors of cholelithiasis: A Mendelian randomization study
por: Chen, Lanlan, et al.
Publicado: (2021)

Insights into Modifiable Risk Factors of Infertility: A Mendelian Randomization Study
por: Xu, Wentao, et al.
Publicado: (2022)

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
por: Deltas, Constantinos, et al.
Publicado: (2023)

Humoral Alloimmunity in Transplantation: Relevance of HLA Epitope Antigenicity and Immunogenicity
por: Duquesnoy, René J.
Publicado: (2011)

Reflections on HLA Epitope-Based Matching for Transplantation
por: Duquesnoy, Rene J.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_cm18t00vmt6bsb9962oa9649ke