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Page 1
Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
Garcia H, Serafin AS, Silbermann F, Porée E, Viau A, Mahaut C, Billot K, Birgy É, Garfa-Traore M, Roy S, Ceccarelli S, Mehraz M, Rodriguez PC, Deleglise B, Furio L, Jabot-Hanin F, Cagnard N, Del Nery E, Fila M, Sin-Monnot S, Antignac C, Lyonnet S, Krug P, Salomon R, Annereau JP, Benmerah A, Delous M, Briseño-Roa L, Saunier S. Garcia H, et al. Among authors: jabot hanin f. Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2115960119. doi: 10.1073/pnas.2115960119. Epub 2022 Apr 28. Proc Natl Acad Sci U S A. 2022. PMID: 35482924 Free PMC article.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. J Clin Invest. 2020. PMID: 31613795 Free PMC article. Clinical Trial.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. Among authors: jabot hanin f. J Clin Invest. 2022 Jun 1;132(11):e161852. doi: 10.1172/JCI161852. J Clin Invest. 2022. PMID: 35642643 Free PMC article. No abstract available.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J. Rosain J, et al. J Clin Immunol. 2018 Jul;38(5):617-627. doi: 10.1007/s10875-018-0527-6. Epub 2018 Jul 11. J Clin Immunol. 2018. PMID: 29995221 Free PMC article. Review.
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
Cottineau J, Kottemann MC, Lach FP, Kang YH, Vély F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E. Cottineau J, et al. J Clin Invest. 2017 May 1;127(5):1991-2006. doi: 10.1172/JCI90727. Epub 2017 Apr 17. J Clin Invest. 2017. PMID: 28414293 Free PMC article.
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.
Sbihi Z, Tanita K, Bachelet C, Bole C, Jabot-Hanin F, Tores F, Le Loch M, Khodr R, Hoshino A, Lenoir C, Oleastro M, Villa M, Spossito L, Prieto E, Danielian S, Brunet E, Picard C, Taga T, Abdrabou SSMA, Isoda T, Yamada M, Palma A, Kanegane H, Latour S. Sbihi Z, et al. Among authors: jabot hanin f. J Clin Immunol. 2022 Apr;42(3):559-571. doi: 10.1007/s10875-021-01188-z. Epub 2022 Jan 9. J Clin Immunol. 2022. PMID: 35000057 Free article.
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
Stoupa A, Adam F, Kariyawasam D, Strassel C, Gawade S, Szinnai G, Kauskot A, Lasne D, Janke C, Natarajan K, Schmitt A, Bole-Feysot C, Nitschke P, Léger J, Jabot-Hanin F, Tores F, Michel A, Munnich A, Besmond C, Scharfmann R, Lanza F, Borgel D, Polak M, Carré A. Stoupa A, et al. EMBO Mol Med. 2018 Dec;10(12):e9569. doi: 10.15252/emmm.201809569. EMBO Mol Med. 2018. PMID: 30446499 Free PMC article.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux JB, Magen M, Simon M, Brassier A, Jabot-Hanin F, Lonlay P, Pontoizeau C, Guirat M, Rio M, Gesny R, Gigarel N, Royer G, Steffann J, Munnich A, Bonnefont JP. Gobin-Limballe S, et al. Among authors: jabot hanin f. J Inherit Metab Dis. 2021 Sep;44(5):1235-1247. doi: 10.1002/jimd.12404. Epub 2021 Jun 10. J Inherit Metab Dis. 2021. PMID: 34014569
Mitochondrial DNA mutations do not impact early human embryonic development.
Chatzovoulou K, Mayeur A, Gigarel N, Jabot-Hanin F, Hesters L, Munnich A, Frydman N, Bonnefont JP, Steffann J. Chatzovoulou K, et al. Among authors: jabot hanin f. Mitochondrion. 2021 May;58:59-63. doi: 10.1016/j.mito.2021.02.012. Epub 2021 Feb 24. Mitochondrion. 2021. PMID: 33639270
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.
Quistrebert J, Orlova M, Kerner G, Ton LT, Luong NT, Danh NT, Vincent QB, Jabot-Hanin F, Seeleuthner Y, Bustamante J, Boisson-Dupuis S, Huong NT, Ba NN, Casanova JL, Delacourt C, Hoal EG, Alcaïs A, Thai VH, Thành LT, Abel L, Schurr E, Cobat A. Quistrebert J, et al. Among authors: jabot hanin f. PLoS Genet. 2021 Mar 4;17(3):e1009392. doi: 10.1371/journal.pgen.1009392. eCollection 2021 Mar. PLoS Genet. 2021. PMID: 33661925 Free PMC article.
23 results