Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211
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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Recent Submissions
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A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
(Platelets. vol. 32, n° 3, pp. 420-423, 2021)Article de revue -
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
(Pigment Cell & Melanoma research. vol. 34, n° 1, pp. 132-135, 2021-01)Article de revue -
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)Article de revue -
Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model
(Cardiovascular Drugs and Therapy, 2021-02-08)Article de revue -
SOD1-related ALS with anticipation in a large family from Martinique
(Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021-03-23)Article de revue -
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
(European Journal of Human Genetics, 2021-06-01)Article de revueOpen access -
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas
(Journal of Clinical Investigation. vol. 131, n° 1, 2021-01-04)Article de revue -
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
(Journal of Clinical Endocrinology and Metabolism. vol. 106, n° 2, pp. E660-E674, 2021-10-01)Article de revueOpen access -
Re-focusing on Agnathia-Otocephaly complex
(Clinical Oral Investigations. vol. 25, n° 3, pp. 1353-1362, 2021)Article de revue -
Dopachrome tautomerase variants in patients with oculocutaneous albinism
(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
(neurogenetics. vol. 22, n° 1, pp. 71-79, 2021-01-23)Article de revueOpen access -
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)Article de revue -
Succinate anaplerosis has an onco-driving potential in prostate cancer cells
(Cancers. vol. 13, n° 7, 2021-04-06)Article de revueOpen access -
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency
(Journal of Inherited Metabolic Disease. vol. 44, n° 3, pp. 777-786, 2021-05)Article de revue -
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)Article de revue -
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
(Journal of Internal Medicine. vol. 289, n° 5, pp. 709-725, 2021)Article de revue -
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)Article de revue -
Pain evaluation after day-surgery using a mobile phone application
(Anaesthesia Critical Care & Pain Medicine. vol. 40, n° 3, 2021-06)Article de revue -
Evidence of mosaicism in SPAST variant carriers in four French families
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)Article de revue -
Management of albinism: French guidelines for diagnosis and care
(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)Article de revue
Statistics
Collection General Statistics
Typology History
2018 | 2019 | 2020 | 2021 | 2022 | |
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Article de revue | 2 | 1 | 0 | 35 | 0 |
Autre communication scientifique (congrès sans actes - poster - séminaire...) | 0 | 0 | 0 | 0 | 0 |
Autre document | 0 | 0 | 0 | 0 | 0 |
Brevet | 0 | 0 | 0 | 0 | 0 |
Chapitre d'ouvrage | 0 | 0 | 0 | 0 | 0 |
Communication dans un congrès avec actes | 0 | 0 | 0 | 0 | 0 |
Direction d'ouvrage | 0 | 0 | 0 | 0 | 0 |
Document de travail - Pré-publication | 0 | 0 | 0 | 0 | 0 |
HDR | 0 | 0 | 0 | 0 | 0 |
Ouvrage | 0 | 0 | 0 | 0 | 0 |
Rapport | 0 | 0 | 0 | 0 | 0 |
Thèse d'exercice | 0 | 0 | 0 | 0 | 0 |
Thèses de doctorat | 2 | 1 | 3 | 1 | 0 |