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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Envíos recientes

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses.

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.

Dépistage génétique néonatal: à propos du programme pilote sur l'amyotrophie spinale (DEPISMA)

A cognitive and sensory approach based on workshops using the zebrafish model promotes the discovery of life sciences in the classroom

Expert Revision of Key Elements for Clinical-Grade Production and Qualification of Perinatal Derivatives

Histologie et réseaux sociaux

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.

Estadísticas

Estadísticas generales de la colección

Historial de tipología de registros

Distribución de envíos recientes

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

Listar por

Envíos recientes

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review ﻿

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes ﻿

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome ﻿

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia ﻿

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. ﻿

Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses. ﻿

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign. ﻿

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum. ﻿

Dépistage génétique néonatal: à propos du programme pilote sur l'amyotrophie spinale (DEPISMA) ﻿

A cognitive and sensory approach based on workshops using the zebrafish model promotes the discovery of life sciences in the classroom ﻿

Expert Revision of Key Elements for Clinical-Grade Production and Qualification of Perinatal Derivatives ﻿

Histologie et réseaux sociaux ﻿

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. ﻿

Estadísticas

Estadísticas generales de la colección

Historial de tipología de registros

Distribución de envíos recientes

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses.

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.

Dépistage génétique néonatal: à propos du programme pilote sur l'amyotrophie spinale (DEPISMA)

A cognitive and sensory approach based on workshops using the zebrafish model promotes the discovery of life sciences in the classroom

Expert Revision of Key Elements for Clinical-Grade Production and Qualification of Perinatal Derivatives

Histologie et réseaux sociaux

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.