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

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

Mitochondrial degradation and energy metabolism.

TRIM4; a novel mitochondrial interacting RING E3 ligase, sensitizes the cells to hydrogen peroxide (H2O2) induced cell death.

Classification of PTEN germline non-truncating variants: a new approach to interpretation

Splice site variants in the canonical donor site of exon 7 lead to intron retention in patients with syndrome.

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

The phenotypic spectrum of CEP250 gene variants

Energy metabolism rewiring following acute UVB irradiation is largely dependent on nuclear DNA damage.

An Injectable Solution for Preservation of Hematopoietic Stem and Progenitors Cells in Hypothermic Condition.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

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.

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

Parcourir par

Dépôts récents

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients. ﻿

Mitochondrial degradation and energy metabolism. ﻿

TRIM4; a novel mitochondrial interacting RING E3 ligase, sensitizes the cells to hydrogen peroxide (H2O2) induced cell death. ﻿

Classification of PTEN germline non-truncating variants: a new approach to interpretation ﻿

Splice site variants in the canonical donor site of exon 7 lead to intron retention in patients with syndrome. ﻿

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies. ﻿

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication. ﻿

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene. ﻿

The phenotypic spectrum of CEP250 gene variants ﻿

Energy metabolism rewiring following acute UVB irradiation is largely dependent on nuclear DNA damage. ﻿

An Injectable Solution for Preservation of Hematopoietic Stem and Progenitors Cells in Hypothermic Condition. ﻿

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants. ﻿

Albinism in a patient with mutations at both the OA1 and OCA3 loci. ﻿

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS ﻿

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype. ﻿

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. ﻿

Statistiques

Statistiques générales de la collection

Nombre de documents par année

Dépôs récents

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

Mitochondrial degradation and energy metabolism.

TRIM4; a novel mitochondrial interacting RING E3 ligase, sensitizes the cells to hydrogen peroxide (H2O2) induced cell death.

Classification of PTEN germline non-truncating variants: a new approach to interpretation

Splice site variants in the canonical donor site of exon 7 lead to intron retention in patients with syndrome.

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

The phenotypic spectrum of CEP250 gene variants

Energy metabolism rewiring following acute UVB irradiation is largely dependent on nuclear DNA damage.

An Injectable Solution for Preservation of Hematopoietic Stem and Progenitors Cells in Hypothermic Condition.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

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.