Maladies Rares : Génétique et Métabolisme (MRGM)

Le projet de recherche de l'unité s'inscrit dans une approche translationnelle et intégrative dite « du lit du malade au laboratoire », visant à décrire la physiopathologie de certaines maladies rares (MR) et « du laboratoire vers le patient », afin de faire bénéficier les patients des avancées de la recherche. Cette approche transrationnelle suit deux axes de recherche. Le 1er axe concerne les maladies génétiques rares du développement avec le syndrome de Goldenhar ou spectre oculo-auriculo-vertébral (OAVS) dont le déterminisme génétique est inconnu, et le syndrome de Rubinstein-Taybi lie à deux gènes connus, CREBBP et EP300. Le second axe de recherche repose sur l'étude du métabolisme énergétique et lipidique dans les dégénérescences spinocérébelleuses et les Rasopathies (syndrome de Costello et neurofibromatose de type I).

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Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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Recent Submissions

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content.

Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis

Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene

Genotypic spectrum of albinism in Mali

New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

ARF1-related disorder: phenotypic and molecular spectrum

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Statistics

Collection General Statistics

Typology History

Recent submissions distribution

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

Browse by

Recent Submissions

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis. ﻿

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism. ﻿

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia. ﻿

Functional Characterization of Splice Variants in the Diagnosis of Albinism. ﻿

Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content. ﻿

Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis ﻿

Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease. ﻿

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene ﻿

Genotypic spectrum of albinism in Mali ﻿

New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project. ﻿

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. ﻿

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians. ﻿

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients. ﻿

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. ﻿

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. ﻿

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles. ﻿

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism. ﻿

A multilayered approach to the analysis of genetic data from individuals with suspected albinism. ﻿

ARF1-related disorder: phenotypic and molecular spectrum ﻿

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes. ﻿

Statistics

Collection General Statistics

Typology History

Recent submissions distribution

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content.

Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis

Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene

Genotypic spectrum of albinism in Mali

New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

ARF1-related disorder: phenotypic and molecular spectrum

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.