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Items: 1 to 50 of 111

1.

Semen endocannabinoids are correlated to sperm quality in a cohort of 200 young Swiss men.

Zufferey F, Donzé N, Rahban R, Senn A, Stettler E, Rudaz S, Nef S, Rossier MF.

Andrology. 2020 Mar 13. doi: 10.1111/andr.12785. [Epub ahead of print]

PMID:
32167658
2.

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Bagheri-Fam S, Chen H, Wilson S, Ayers K, Hughes J, Sloan-Bena F, Calvel P, Robevska G, Puisac B, Kusz-Zamelczyk K, Gimelli S, Spik A, Jaruzelska J, Warenik-Szymankiewicz A, Faradz S, Nef S, Pié J, Thomas P, Sinclair A, Wilhelm D.

PLoS One. 2020 Jan 7;15(1):e0227411. doi: 10.1371/journal.pone.0227411. eCollection 2020.

3.

Steroid profile analysis by LC-HRMS in human seminal fluid.

Olesti E, Garcia A, Rahban R, Rossier MF, Boccard J, Nef S, González-Ruiz V, Rudaz S.

J Chromatogr B Analyt Technol Biomed Life Sci. 2020 Jan 1;1136:121929. doi: 10.1016/j.jchromb.2019.121929. Epub 2019 Dec 9.

PMID:
31841978
4.

Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13.

Livermore C, Simon M, Reeves R, Stévant I, Nef S, Pope M, Mallon AM, Wells S, Warr N, Greenfield A.

Genetics. 2020 Feb;214(2):467-477. doi: 10.1534/genetics.119.302786. Epub 2019 Dec 13.

PMID:
31836612
5.

The Insulin/IGF System in Mammalian Sexual Development and Reproduction.

Neirijnck Y, Papaioannou MD, Nef S.

Int J Mol Sci. 2019 Sep 9;20(18). pii: E4440. doi: 10.3390/ijms20184440. Review.

6.

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, Leger J, Sallai A, Carel JC, Martinerie L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, Brauner R, Jauch R, Nef S, Greenfield A, Bashamboo A.

Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24.

7.

Genetic resistance to DEHP-induced transgenerational endocrine disruption.

Stenz L, Rahban R, Prados J, Nef S, Paoloni-Giacobino A.

PLoS One. 2019 Jun 10;14(6):e0208371. doi: 10.1371/journal.pone.0208371. eCollection 2019.

8.

Semen quality of young men in Switzerland: a nationwide cross-sectional population-based study.

Rahban R, Priskorn L, Senn A, Stettler E, Galli F, Vargas J, Van den Bergh M, Fusconi A, Garlantezec R, Jensen TK, Multigner L, Skakkebaek NE, Germond M, Jørgensen N, Nef S; NICER Working Group.

Andrology. 2019 Nov;7(6):818-826. doi: 10.1111/andr.12645. Epub 2019 May 21.

9.

Characterizing the bipotential mammalian gonad.

Nef S, Stévant I, Greenfield A.

Curr Top Dev Biol. 2019;134:167-194. doi: 10.1016/bs.ctdb.2019.01.002. Epub 2019 Jan 30.

PMID:
30999975
10.

Genetic Control of Gonadal Sex Determination and Development.

Stévant I, Nef S.

Trends Genet. 2019 May;35(5):346-358. doi: 10.1016/j.tig.2019.02.004. Epub 2019 Mar 19. Review.

PMID:
30902461
11.

Dissecting Cell Lineage Specification and Sex Fate Determination in Gonadal Somatic Cells Using Single-Cell Transcriptomics.

Stévant I, Kühne F, Greenfield A, Chaboissier MC, Dermitzakis ET, Nef S.

Cell Rep. 2019 Mar 19;26(12):3272-3283.e3. doi: 10.1016/j.celrep.2019.02.069.

12.

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.

Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Touré A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF.

Am J Hum Genet. 2019 Feb 7;104(2):331-340. doi: 10.1016/j.ajhg.2018.12.013. Epub 2019 Jan 24.

13.

The ReproGenomics Viewer: a multi-omics and cross-species resource compatible with single-cell studies for the reproductive science community.

Darde TA, Lecluze E, Lardenois A, Stévant I, Alary N, Tüttelmann F, Collin O, Nef S, Jégou B, Rolland AD, Chalmel F.

Bioinformatics. 2019 Sep 1;35(17):3133-3139. doi: 10.1093/bioinformatics/btz047.

14.

Tumor Suppressor PTEN Regulates Negatively Sertoli Cell Proliferation, Testis Size, and Sperm Production In Vivo.

Neirijnck Y, Kühne F, Mayère C, Pavlova E, Sararols P, Foti M, Atanassova N, Nef S.

Endocrinology. 2019 Feb 1;160(2):387-398. doi: 10.1210/en.2018-00892.

PMID:
30576429
15.

Insulin/IGF1 signaling regulates the mitochondrial biogenesis markers in steroidogenic cells of prepubertal testis, but not ovary.

Radovic SM, Starovlah IM, Capo I, Miljkovic D, Nef S, Kostic TS, Andric SA.

Biol Reprod. 2019 Jan 1;100(1):253-267. doi: 10.1093/biolre/ioy177.

PMID:
30084987
16.

NRG1 signalling regulates the establishment of Sertoli cell stock in the mouse testis.

Gregoire EP, Stevant I, Chassot AA, Martin L, Lachambre S, Mondin M, de Rooij DG, Nef S, Chaboissier MC.

Mol Cell Endocrinol. 2018 Dec 15;478:17-31. doi: 10.1016/j.mce.2018.07.004. Epub 2018 Jul 21.

PMID:
30040984
17.

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.

Ilaslan E, Calvel P, Nowak D, Szarras-Czapnik M, Slowikowska-Hilczer J, Spik A, Sararols P, Nef S, Jaruzelska J, Kusz-Zamelczyk K.

Sex Dev. 2018;12(4):191-195. doi: 10.1159/000489692. Epub 2018 Jun 8.

PMID:
29886504
18.

The impact of new technologies in our understanding of testis formation and function.

Nef S, Wilhelm D.

Mol Cell Endocrinol. 2018 Jun 15;468:1-2. doi: 10.1016/j.mce.2018.04.016. No abstract available.

PMID:
29807571
19.

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.

Harris A, Siggers P, Corrochano S, Warr N, Sagar D, Grimes DT, Suzuki M, Burdine RD, Cong F, Koo BK, Clevers H, Stévant I, Nef S, Wells S, Brauner R, Ben Rhouma B, Belguith N, Eozenou C, Bignon-Topalovic J, Bashamboo A, McElreavey K, Greenfield A.

Proc Natl Acad Sci U S A. 2018 May 22;115(21):5474-5479. doi: 10.1073/pnas.1801223115. Epub 2018 May 7.

20.

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

Christou-Kent M, Kherraf ZE, Amiri-Yekta A, Le Blévec E, Karaouzène T, Conne B, Escoffier J, Assou S, Guttin A, Lambert E, Martinez G, Boguenet M, Fourati Ben Mustapha S, Cedrin Durnerin I, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Coutton C, Thierry-Mieg N, Nef S, Bottari SP, Zouari R, Issartel JP, Ray PF, Arnoult C.

EMBO Mol Med. 2018 May;10(5). pii: e8515. doi: 10.15252/emmm.201708515.

21.

A brief history of sex determination.

Stévant I, Papaioannou MD, Nef S.

Mol Cell Endocrinol. 2018 Jun 15;468:3-10. doi: 10.1016/j.mce.2018.04.004. Epub 2018 Apr 7. Review.

PMID:
29635012
22.

Steroid profiles in both blood serum and seminal plasma are not correlated and do not reflect sperm quality: Study on the male reproductive health of fifty young Swiss men.

Zufferey F, Rahban R, Garcia A, Gagnebin Y, Boccard J, Tonoli D, Jeanneret F, Stettler E, Senn A, Nef S, Rudaz S, Rossier MF.

Clin Biochem. 2018 Dec;62:39-46. doi: 10.1016/j.clinbiochem.2018.03.008. Epub 2018 Mar 16.

PMID:
29555320
23.

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility.

Kherraf ZE, Conne B, Amiri-Yekta A, Kent MC, Coutton C, Escoffier J, Nef S, Arnoult C, Ray PF.

Mol Cell Endocrinol. 2018 Jun 15;468:70-80. doi: 10.1016/j.mce.2018.03.002. Epub 2018 Mar 6.

PMID:
29522859
24.

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouzène T, Martinez G, Crouzy S, Daneshipour A, Hosseini SH, Mitchell V, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Deleuze JF, Boland A, Hennebicq S, Satre V, Jouk PS, Thierry-Mieg N, Conne B, Dacheux D, Landrein N, Schmitt A, Stouvenel L, Lorès P, El Khouri E, Bottari SP, Fauré J, Wolf JP, Pernet-Gallay K, Escoffier J, Gourabi H, Robinson DR, Nef S, Dulioust E, Zouari R, Bonhivers M, Touré A, Arnoult C, Ray PF.

Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7.

25.

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing.

Stévant I, Neirijnck Y, Borel C, Escoffier J, Smith LB, Antonarakis SE, Dermitzakis ET, Nef S.

Cell Rep. 2018 Feb 6;22(6):1589-1599. doi: 10.1016/j.celrep.2018.01.043.

26.

Insulin and IGF1 receptors are essential for the development and steroidogenic function of adult Leydig cells.

Neirijnck Y, Calvel P, Kilcoyne KR, Kühne F, Stévant I, Griffeth RJ, Pitetti JL, Andric SA, Hu MC, Pralong F, Smith LB, Nef S.

FASEB J. 2018 Jun;32(6):3321-3335. doi: 10.1096/fj.201700769RR. Epub 2018 Jan 24.

PMID:
29401624
27.

Single cell transcriptome sequencing: A new approach for the study of mammalian sex determination.

Stévant I, Nef S.

Mol Cell Endocrinol. 2018 Jun 15;468:11-18. doi: 10.1016/j.mce.2018.01.013. Epub 2018 Jan 31. Review.

PMID:
29371022
28.

The liver receptor homolog-1 (LRH-1) is expressed in human islets and protects β-cells against stress-induced apoptosis.

Baquié M, St-Onge L, Kerr-Conte J, Cobo-Vuilleumier N, Lorenzo PI, Jimenez Moreno CM, Cederroth CR, Nef S, Borot S, Bosco D, Wang H, Marchetti P, Pattou F, Wollheim CB, Gauthier BR.

Hum Mol Genet. 2018 Jan 15;27(2):406. doi: 10.1093/hmg/ddx402. No abstract available.

PMID:
29186426
29.

Sertoli Cell Number Defines and Predicts Germ and Leydig Cell Population Sizes in the Adult Mouse Testis.

Rebourcet D, Darbey A, Monteiro A, Soffientini U, Tsai YT, Handel I, Pitetti JL, Nef S, Smith LB, O'Shaughnessy PJ.

Endocrinology. 2017 Sep 1;158(9):2955-2969. doi: 10.1210/en.2017-00196.

30.

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.

Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Fauré J, Bottari SP, Coutton C, Ray PF, Arnoult C.

EMBO Mol Med. 2017 Aug;9(8):1132-1149. doi: 10.15252/emmm.201607461.

31.

Testicular Dysgenesis Syndrome and Long-Lasting Epigenetic Silencing of Mouse Sperm Genes Involved in the Reproductive System after Prenatal Exposure to DEHP.

Stenz L, Escoffier J, Rahban R, Nef S, Paoloni-Giacobino A.

PLoS One. 2017 Jan 13;12(1):e0170441. doi: 10.1371/journal.pone.0170441. eCollection 2017.

32.

MPC1-like Is a Placental Mammal-specific Mitochondrial Pyruvate Carrier Subunit Expressed in Postmeiotic Male Germ Cells.

Vanderperre B, Cermakova K, Escoffier J, Kaba M, Bender T, Nef S, Martinou JC.

J Biol Chem. 2016 Aug 5;291(32):16448-61. doi: 10.1074/jbc.M116.733840. Epub 2016 Jun 17.

33.

Stress-activated miR-21/miR-21* in hepatocytes promotes lipid and glucose metabolic disorders associated with high-fat diet consumption.

Calo N, Ramadori P, Sobolewski C, Romero Y, Maeder C, Fournier M, Rantakari P, Zhang FP, Poutanen M, Dufour JF, Humar B, Nef S, Foti M.

Gut. 2016 Nov;65(11):1871-1881. doi: 10.1136/gutjnl-2015-310822. Epub 2016 May 24.

34.

Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortex.

Telley L, Govindan S, Prados J, Stevant I, Nef S, Dermitzakis E, Dayer A, Jabaudon D.

Science. 2016 Mar 25;351(6280):1443-6. doi: 10.1126/science.aad8361. Epub 2016 Mar 3.

35.

Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

Nef S, Neuhaus TJ, Spartà G, Weitz M, Buder K, Wisser J, Gobet R, Willi U, Laube GF.

Eur J Pediatr. 2016 May;175(5):667-76. doi: 10.1007/s00431-015-2687-1. Epub 2016 Jan 25.

PMID:
26805407
36.

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.

Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzène T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C.

Hum Mol Genet. 2016 Mar 1;25(5):878-91. doi: 10.1093/hmg/ddv617. Epub 2015 Dec 31.

37.

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

Calvel P, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J.

Sex Dev. 2015;9(5):289-95. doi: 10.1159/000441512. Epub 2015 Nov 7.

PMID:
26544196
38.

DICER Regulates the Formation and Maintenance of Cell-Cell Junctions in the Mouse Seminiferous Epithelium.

Korhonen HM, Yadav RP, Da Ros M, Chalmel F, Zimmermann C, Toppari J, Nef S, Kotaja N.

Biol Reprod. 2015 Dec;93(6):139. doi: 10.1095/biolreprod.115.131938. Epub 2015 Oct 28.

PMID:
26510868
39.

Autocrine Action of IGF2 Regulates Adult β-Cell Mass and Function.

Modi H, Jacovetti C, Tarussio D, Metref S, Madsen OD, Zhang FP, Rantakari P, Poutanen M, Nef S, Gorman T, Regazzi R, Thorens B.

Diabetes. 2015 Dec;64(12):4148-57. doi: 10.2337/db14-1735. Epub 2015 Sep 17.

40.

Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesis.

Zimmermann C, Stévant I, Borel C, Conne B, Pitetti JL, Calvel P, Kaessmann H, Jégou B, Chalmel F, Nef S.

Mol Endocrinol. 2015 Apr;29(4):627-42. doi: 10.1210/me.2014-1356. Epub 2015 Feb 24.

41.

Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility.

Zimmermann C, Romero Y, Warnefors M, Bilican A, Borel C, Smith LB, Kotaja N, Kaessmann H, Nef S.

PLoS One. 2014 Sep 22;9(9):e107023. doi: 10.1371/journal.pone.0107023. eCollection 2014.

42.

Neurodevelopmental long-term outcome in children after hemolytic uremic syndrome.

Buder K, Latal B, Nef S, Neuhaus TJ, Laube GF, Spartà G.

Pediatr Nephrol. 2015 Mar;30(3):503-13. doi: 10.1007/s00467-014-2950-0. Epub 2014 Sep 19.

PMID:
25234636
43.

Sertoli cells control peritubular myoid cell fate and support adult Leydig cell development in the prepubertal testis.

Rebourcet D, O'Shaughnessy PJ, Pitetti JL, Monteiro A, O'Hara L, Milne L, Tsai YT, Cruickshanks L, Riethmacher D, Guillou F, Mitchell RT, van't Hof R, Freeman TC, Nef S, Smith LB.

Development. 2014 May;141(10):2139-49. doi: 10.1242/dev.107029.

44.

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S.

PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May.

45.

The emerging role of insulin-like growth factors in testis development and function.

Griffeth RJ, Bianda V, Nef S.

Basic Clin Androl. 2014 Aug 18;24:12. doi: 10.1186/2051-4190-24-12. eCollection 2014.

46.

DNA methylation profiling of the fibrinogen gene landscape in human cells and during mouse and zebrafish development.

Vorjohann S, Pitetti JL, Nef S, Gonelle-Gispert C, Buhler L, Fish RJ, Neerman-Arbez M.

PLoS One. 2013 Aug 21;8(8):e73089. doi: 10.1371/journal.pone.0073089. eCollection 2013.

47.

Cellular source and mechanisms of high transcriptome complexity in the mammalian testis.

Soumillon M, Necsulea A, Weier M, Brawand D, Zhang X, Gu H, Barthès P, Kokkinaki M, Nef S, Gnirke A, Dym M, de Massy B, Mikkelsen TS, Kaessmann H.

Cell Rep. 2013 Jun 27;3(6):2179-90. doi: 10.1016/j.celrep.2013.05.031. Epub 2013 Jun 20.

48.

Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations.

Pabst WL, Neuhaus TJ, Nef S, Bresin E, Zingg-Schenk A, Spartà G.

Pediatr Nephrol. 2013 Jul;28(7):1141-4. doi: 10.1007/s00467-013-2450-7. Epub 2013 Mar 22.

PMID:
23519521
49.

An essential role for insulin and IGF1 receptors in regulating sertoli cell proliferation, testis size, and FSH action in mice.

Pitetti JL, Calvel P, Zimmermann C, Conne B, Papaioannou MD, Aubry F, Cederroth CR, Urner F, Fumel B, Crausaz M, Docquier M, Herrera PL, Pralong F, Germond M, Guillou F, Jégou B, Nef S.

Mol Endocrinol. 2013 May;27(5):814-27. doi: 10.1210/me.2012-1258. Epub 2013 Mar 21.

50.

Insulin and IGF1 receptors are essential for XX and XY gonadal differentiation and adrenal development in mice.

Pitetti JL, Calvel P, Romero Y, Conne B, Truong V, Papaioannou MD, Schaad O, Docquier M, Herrera PL, Wilhelm D, Nef S.

PLoS Genet. 2013;9(1):e1003160. doi: 10.1371/journal.pgen.1003160. Epub 2013 Jan 3.

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