Présentation
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L'équipe "Génétique des maladies mitochondriales" est composée de 7 groupes:
- Maturation des ARN et des protéines mitochondriales
- Maladies mitochondriales et réponse interféron
- Flux métaboliques, thérapie génique de la leucinose
- Ségrégation de l’ADNmt dans le développement embryo-foetal
- Homéostasie du fer dans l’ataxie de Friedreich
- Identification de gènes par génomique et transcriptomique
- Centre de référence des maladies mitochondriales (CARAMMEL)
Ressources & publications
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form ...
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2019Journal (source)Nat. Med.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 a...
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2019Journal (source)Front Genet
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form ...
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2019Journal (source)PLoS ONE
Prevalence and risk factors for latent tuberculosis infection among healthcar...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Park...
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2019Journal (source)J. Exp. Med.
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reacti...
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2019Journal (source)J. Exp. Med.
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients i...
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2019Journal (source)Nucleic Acids Res.
SeqTailor: a user-friendly webserver for the extraction of DNA or protein seq...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Blacklisting variants common in private cohorts but not in public databases o...
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2019Journal (source)Sci Immunol
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
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2019Journal (source)Bioinformatics
PopViz: a webserver for visualizing minor allele frequencies and damage predi...
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2019Journal (source)Hum. Mol. Genet.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ...
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2019Journal (source)Front Immunol
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Gene...
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2019Journal (source)Sci Rep
An eQTL variant of ZXDC is associated with IFN-γ production following Mycobac...
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2017Journal (source)Hepatology
A new 3p25 locus is associated with liver fibrosis progression in human immun...
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2019Journal (source)Oncotarget
BRIP1 coding variants are associated with a high risk of hepatocellular carci...
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2016Journal (source)J. Infect. Dis.
Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered...
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2016Journal (source)PLoS ONE
Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- o...
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2019Journal (source)Sci Rep
An eQTL variant of ZXDC is associated with IFN-γ production following Mycobac...
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2019Journal (source)Lancet Infect Dis
Genetics of human susceptibility to active and latent tuberculosis: present k...
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2018Journal (source)Semin. Immunol.
Human genetics of infectious diseases: Unique insights into immunological red...
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2019Journal (source)Nat. Rev. Immunol.
A novel genetic architecture of infectious diseases.
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Common homozygosity for predicted loss-of-function variants reveals both redu...
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2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2021Journal (source)J Exp Med
Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever...
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2021Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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2021Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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2021Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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2021Journal (source)Nat Med
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
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2022Journal (source)Nature
Human genetic and immunological determinants of critical COVID-19 pneumonia.
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2024Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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2024Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...