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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Dépôts récents

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

SCA27 is a cause of early-onset ataxia and developmental delay.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists.

Emerging concepts in bioenergetics and cancer research: metabolic flexibility, coupling, symbiosis, switch, oxidative tumors, metabolic remodeling, signaling and bioenergetic therapy.

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

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

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Dépôs récents

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

Parcourir par

Dépôts récents

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS ﻿

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. ﻿

Recommendations of the Francophone Network of Pharmacogenetics (RNPGx) ﻿

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant. ﻿

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals. ﻿

Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review. ﻿

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ﻿

SCA27 is a cause of early-onset ataxia and developmental delay. ﻿

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents. ﻿

Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists. ﻿

Emerging concepts in bioenergetics and cancer research: metabolic flexibility, coupling, symbiosis, switch, oxidative tumors, metabolic remodeling, signaling and bioenergetic therapy. ﻿

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene. ﻿

Acid sphingomyelinase deficiency in France: a retrospective survival study. ﻿

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. ﻿

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 ﻿

Statistiques

Statistiques générales de la collection

Nombre de documents par année

Dépôs récents

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

SCA27 is a cause of early-onset ataxia and developmental delay.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists.

Emerging concepts in bioenergetics and cancer research: metabolic flexibility, coupling, symbiosis, switch, oxidative tumors, metabolic remodeling, signaling and bioenergetic therapy.

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

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