Micheline Misrahi - Selected Publications#

1. HEDDAR A, OGUR C, DA COSTA S, BRAHAM I, BILLAUD-RIST L, FINDIKLI N, BENETEAU C, REYNAUD R, MAHMOUD K, LEGRAND S, MARCHAND M, CEDRIN-DURNERIN I, CANTALLOUBE A, PEIGNE M, BRETAULT M, DAGHER-HAYECK B, PEROL S, DROUMAGUET C, CAVKAYTAR S, NICOLAS-BONNE C, ELLOUMI H, KHROUF M, ROUGIER-LEMASLE C, FRADIN M, LE BOETTE E, LUIGI P, GUERROT AM, GINGLINGER E, ZAMPA A, FAUCONNIER A, AUGER N, PARIS F, BRISCHOUX-BOUCHER E, CABROL C, BRUN A, GUYON L, BERARD M, RIVIERE A, GRUCHY N, ODENT S, GILBERT-DUSSARDIER B, ISIDOR B, PIARD J, LAMBERT L, HAMAMAH S, GUEDJ AM, BRAC DE LA PERRIERE A, FERNANDEZ H, RAFFIN-SANSON ML, POLAK M, LETUR H, EPELBOIN S, PLU-BUREAU G, WOŁCZYŃSKI S, HIERONIMUS S, AITTOMAKI K, CATTEAU-JONARD S, MISRAHI M.. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine. EBioMedicine. 2022 84:104246. doi: 10.1016/j.ebiom.2022.104246. (First genetic study of an unprecedented European and international cohort of POI demonstrating for the first time a high positive diagnostic yield of next-generation sequencing. This allows its use in routine clinical practice This article shows that the genetic study leads to a personalized management of patients. New causes of POI are identified that may correspond to innovative therapeutic targets in the future. The study was widely broadcast in the media)

2. CABURET S, HEDDAR A, DARDILLAC E, CREUX H, LAMBERT M, MESSIAEN S, TOURPIN S, LIVERA G, LOPEZ BS, MISRAHI M Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait. J Med Genet. 2020 1: jmedgenet-2019-106672. doi: 10.1136/jmedgenet-2019-106672. (This article shows for the first time that a major breast and ovarian cancer gene, BRCA2, is responsible for isolated POI without cancer or Fanconi anemia. However, it reveals the existence of an increased chromosomal fragility which exposes these patients to the risk of developing cancer in the future. This article has major consequences for the management of patients as identifying the genetic causes of any unexplained POI may lead to specialist surveillance throughout life. It was broadcast in the media).

3. FOUQUET B, PAWLIKOWSKA P, CABURET S, GUIGON C, MÄKINEN M, TANNER L, HIETALA M, URBANSKA K, BELLUTTI L, LEGOIS B, BESSIERES B, GOUGEON A, BENACHI A, LIVERA G, ROSSELLI F, VEITIA RA, MISRAHI M. A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. Elife. 2017 12;6. pii: e30490. doi: 10.7554/eLife.30490. (First identification of the role of the Fanconi anemia pathway in POI. FANCM is a DNA damage response gene whose heterozygous mutations predispose to breast cancer. We show that this gene is expressed in the ovary during meiosis. This mutation can cause meiotic abnormalities leading to depletion of follicular stock. This gene establishes a link between infertility and cancer. This article led to recruitment of the first author to a permanent position as University researcher and was broadcast in the media).

4. ACHARD C, COURTILLOT C, LAHUNA O, MÉDURI M, JC, LIÈRE P, BACHELOT A, BENYOUNES H, SCHUMACHER M, KUTTENN F, TOURAINE P, MISRAHI M Normal Spermatogenesis in a man with mutant Luteinizing Hormone. New Engl J Med, 2009, 361, 1856-63. (First evidence that a very low residual activity of luteinizing hormone and low concentration of Testosterone is sufficient for normal spermatogenesis contradicting established dogmas. This opens the way to better strategies for male hormonal contraception or treatment of certain types of infertility. This article led to successful fellowship application for C Achard).

5. VASSEUR C., BEAU I., DESROCHES A., GERARD C., DE PONCHEVILLE L., CHAPLOT S., SAVAGNER F., CROUE, A, MATHIEU E., LAHLOU N., DESCAMP S., RODIEN P. AND MISRAHI M. Familial gestational spontaneous ovarian hyperstimulation syndrome (OHSS) is caused by a mutant Follicle-Stimulating Hormone Receptor (FSHR) abnormally sensitive to human Chorionic Gonadotropin (hCG). N. Engl. J. Med., 2003, 349, 753-759. 246 citations (Identification of the first genetic cause of gestational ovarian hyperstimulation syndrome by broadening the specificity of a mutated FSHR to hCG. It opens the way to understanding the iatrogenic syndrome of ovarian hyperstimulation syndrome).

6. MISRAHI M, TEGLAS JP, N'GO N, BURGARD M, MAYAUX MJ, ROUZIOUX C, DELFRAISSY JF, BLANCHE S. CCR5 chemokine receptor variant in HIV-1 mother-to-child transmission and disease progression in children. French Pediatric HIV infection Group. JAMA. 1998, 279:277-80. 148 citations (First demonstration that heterozygosity for the CCR5delta32 deletion of the HIV coreceptor does not protect children from infection by the maternal virus but substantially reduces the progression of the disease in HIV-1-infected children. This article had a widespread media coverage).

7. BEAU I., TOURAINE P., MEDURI G., GOUGEON A., DESROCHES A., MATUCHANSKY C.,MILGROM E., KUTTENN F., MISRAHI M. A novel phenotype related to the partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest. 1998 102:1352-1359. 311 citations. (First identification of a partial defect of the FSHR, showing that a continuum of molecular alterations of this class of receptors exists, defining different novel POI phenotypes. A strict correlation between clinical, histological and molecular studies has shown that increasing doses of FSH are essential for the growth of the antral follicle. This article led to the recruitment of I Beau as a permanent researcher at the National Institute of Health and Medical research).

8. MISRAHI M, LOOSFELT H, ATGER M, SAR S, GUIOCHON-MANTEL A AND MILGROM E. Cloning, sequencing and expression of human TSH receptor. Biochem. Biophys. Res. Commun. 1990, 166, 394-403. 351 citations (Highly cited article. Description of the structure of the human TSH receptor by cDNA cloning. Extends the novel family of G Protein coupled receptors.)

9. Loosfelt H., MISRAHI M., ATGER M., SALESSE R., VU HAI-LUU THI M.T., JOLIVET A., GUIOCHON-MANTEL A., SAR S., JALLAL B., GARNIER J. AND MILGROM E. Cloning and sequencing of Porcine LH/hCG receptor. Variants lacking transmembrane domain. Science, 1989, 245, 525-528. 661 citations (Highly cited article. World's first description of the structure of the LH/hCG receptor by cDNA cloning. Allowed to define a novel family of G Protein coupled receptors. Identification of soluble variants of the receptor generated by alternative splicing deleted from the whole transmembrane domain).

10. MISRAHI M, ATGER M, D'AURIOL L, LOOSFELT H, MERIEL C, FRIDLANSKY F, GUIOCHON-MANTEL A, GALIBERT F, MILGROM E. Complete amino acid sequence of the human progesterone receptor deduced from cloned cDNA. Biochem Biophys Res Commun. 1987 13;143(2):740-8. 513 citations. (Highly cited article. World's first description of the structure of the human progesterone receptor by cDNA cloning, allowing to describe a new nuclear receptor superfamily).

Google scholar H Index 52. 9835 citations