Publications 2017

Équipe 1

Abi Ghanem C, Degerny C, Hussain R, Liere P, Pianos A, Tourpin S, Habert R, Macklin WB, Schumacher M, Ghoumari AM (2017) Long-lasting masculinizing effects of postnatal androgens on myelin governed by the brain androgen receptor. PLoS Genetics 13:e1007049 (PMID: 29107990) (doi: 10.1371/journal.pgen.1007049)

Belot MP, Naderi K, Mille C, Boelle PY, Benachi A, Bougneres P, Fradin D (2017) Role of DNA methylation at the placental RTL1 gene locus in type 1 diabetes. Pediatric Diabetes 18:178-187 (PMID: 27174469) (doi: 10.1111/pedi.12387)

Ben-Avraham D, Govindaraju DR, Budagov T, Fradin D, Durda P, Liu B, Ott S, Gutman D, Sharvit L, Kaplan R, Bougneres P, Reiner A, Shuldiner AR, Cohen P, Barzilai N, Atzmon G (2017) The GH receptor exon 3 deletion is a marker of male-specific exceptional longevity associated with increased GH sensitivity and taller stature. Science advances 3:e1602025 (PMID: 28630896) (doi: 10.1126/sciadv.1602025)

Bougneres P, Bouvattier C, Cartigny M, Michala L (2017) Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study. Int J Pediatric Endocrinol 2017:3 (PMID: 28149309) (doi: 10.1186/s13633-016-0040-8)

Bougneres P, Le Fur S, Valtat S, Kamatani Y, Lathrop M, Valleron AJ (2017) Using spatio-temporal surveillance data to test the infectious environment of children before type 1 diabetes diagnosis. PloS one 12:e0170658 (PMID: 28152013) (doi: 10.1371/journal.pone.0170658)

Fradin D, Boelle PY, Belot MP, Lachaux F, Tost J, Besse C, Deleuze JF, De Filippo G, Bougneres P (2017) Genome-wide methylation analysis identifies specific epigenetic marks in severely obese children. Scientific Reports 7:46311 (PMID: 28387357) (doi: 10.1038/srep46311)

Garay L, Gonzalez Giqueaux P, Guennoun R, Schumacher M, Gonzalez Deniselle MC, De Nicola AF (2017) Progesterone treatment modulates mRNA OF neurosteroidogenic enzymes in a murine model of multiple sclerosis. J Steroid Biochem Mol Biol 165:421-429 (PMID: 27597394) (doi: 10.1016/j.jsbmb.2016.09.001)

Jean A, Bonnet P, Liere P, Mhaouty-Kodja S, Hardin-Pouzet H (2017) Revisiting medial preoptic area plasticity induced in male mice by sexual experience. Scientific Reports 7:17846 (PMID: 29259324) (doi: 10.1038/s41598-017-18248-3)

Kumar N, Fagart J, Liere P, Mitchell SJ, Knibb AR, Petit-Topin I, Rame M, El-Etr M, Schumacher M, Lambert JJ, Rafestin-Oblin ME, Sitruk-Ware R (2017) Nestorone(R) as a Novel Progestin for Nonoral Contraception: Structure-Activity Relationships and Brain Metabolism Studies. Endocrinology 158:170-182 (PMID: 27824503) (doi: 10.1210/en.2016-1426)

Le Stunff C, Tilotta F, Sadoine J, Le Denmat D, Briet C, Motte E, Clauser E, Bougneres P, Chaussain C, Silve C (2017) Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis. J Bone Miner Res 32:333-346 (PMID: 27589370) (doi: 10.1002/jbmr.2987)

Liere P, Pianos A, Oudinet JP, Schumacher M, Akwa Y (2017) Differential effects of the 18-kDa translocator protein (TSPO) ligand etifoxine on steroidogenesis in rat brain, plasma and steroidogenic glands: Pharmacodynamic studies. Psychoneuroendocrinology 83:122-134 (PMID: 28609670) (doi: 10.1016/j.psyneuen.2017.05.022)

Meyer M, Garay LI, Kruse MS, Lara A, Gargiulo-Monachelli G, Schumacher M, Guennoun R, Coirini H, De Nicola AF, Gonzalez Deniselle MC (2017) Protective effects of the neurosteroid allopregnanolone in a mouse model of spontaneous motoneuron degeneration. J Steroid Biochem Mol Biol 174:201-216 (PMID: 28951257) (doi: 10.1016/j.jsbmb.2017.09.015)

Perdomini M, Dos Santos C, Goumeaux C, Blouin V, Bougneres P (2017) An AAVrh10-CAG-CYP21-HA vector allows persistent correction of 21-hydroxylase deficiency in a Cyp21(-/-) mouse model. Gene Ther 24:275-281 (PMID: 28165447) (doi: 10.1038/gt.2017.10)

Todd N, Valleron AJ, Bougneres P (2017) Prenatal loss of father during World War One is predictive of a reduced lifespan in adulthood. Proc Natl Acad Sci U S A 114:4201-4206 (PMID: 28377521) (doi: 10.1073/pnas.1617911114)

Todd N, Le Fur S, Bougneres P, Valleron AJ (2017) Impact of social inequalities at birth on the longevity of children born 1914-1916: A cohort study. PloS one 12:e0185848 (PMID: 29036185) (doi: 10.1371/journal.pone.0185848)

Zhu X, Frechou M, Liere P, Zhang S, Pianos A, Fernandez N, Denier C, Mattern C, Schumacher M, Guennoun R (2017) A role of endogenous progesterone in stroke cerebroprotection revealed by the neural-specific deletion of its intracellular receptors. J Neurosci 37:10998-11020

Berkane N, Liere P, Oudinet JP, Hertig A, Lefevre G, Pluchino N, Schumacher M, Chabbert-Buffet N (2017) From Pregnancy to Preeclampsia: A Key Role for Estrogens. Endocr Rev 38:123-144 (PMID: 28323944) (doi: 10.1210/er.2016-1065)

Dussaule C, Masnou P, Nasser G, Archambaud F, Cauquil-Michon C, Gagnepain JP, Bouilleret V, Denier C (2017) Can developmental venous anomalies cause seizures? J Neurol 264:2495-2505 (PMID: 28314978) (doi: 10.1007/s00415-017-8456-5)

Gaignard P, Liere P, Therond P, Schumacher M, Slama A, Guennoun R (2017) Role of sex hormones on brain mitochondrial function, with special reference to aging and neurodegenerative diseases. Frontiers in Aging Neuroscience 9:406 (PMID: 29270123) (doi: 10.3389/fnagi.2017.00406)

Équipe 2

Abi Ghanem C, Degerny C, Hussain R, Liere P, Pianos A, Tourpin S, Habert R, Macklin WB, Schumacher M, Ghoumari AM (2017) Long-lasting masculinizing effects of postnatal androgens on myelin governed by the brain androgen receptor. PLoS genetics 13:e1007049 (PMID: 29107990) (doi: 10.1371/journal.pgen.1007049)

Anghelescu C, Francou B, Cardas R, Guiochon-Mantel A, Aubourg P, Servais L, Gidaro T (2017) Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype. Eur J Neurol 24:e15-e16 (PMID: 28211244) (doi: 10.1111/ene.13250)

Ayciriex S, Djelti F, Alves S, Regazzetti A, Gaudin M, Varin J, Langui D, Bieche I, Hudry E, Dargere D, Aubourg P, Auzeil N, Laprevote O, Cartier N (2017) Neuronal Cholesterol Accumulation Induced by Cyp46a1 Down-Regulation in Mouse Hippocampus Disrupts Brain Lipid Homeostasis. Frontiers in Molecular Neuroscience 10:211 (PMID: 28744197) (doi: 10.3389/fnmol.2017.00211)

Bey K, Ciron C, Dubreil L, Deniaud J, Ledevin M, Cristini J, Blouin V, Aubourg P, Colle MA (2017) Efficient CNS targeting in adult mice by intrathecal infusion of single-stranded AAV9-GFP for gene therapy of neurological disorders. Gene Ther 24:325-332 (PMID: 28425480) (doi: 10.1038/gt.2017.18)

Briet C, Pereda A, Le Stunff C, Motte E, de Dios Garcia-Diaz J, de Nanclares GP, Dumaz N, Silve C (2017) Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3. Hum Mol Genet 26:3883-3894 (PMID: 29016851) (doi: 10.1093/hmg/ddx271)

Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O’Meara T, Davidson D, Aubourg P, Williams DA (2017) Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med 377:1630-1638 (PMID: 28976817) (doi: 10.1056/NEJMoa1700554)

Kuhl JS, Suarez F, Gillett GT, Hemmati PG, Snowden JA, Stadler M, Vuong GL, Aubourg P, Kohler W, Arnold R (2017) Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy. Brain 140:953-966 (PMID: 28375456) (doi: 10.1093/brain/awx016)

Le Stunff C, Tilotta F, Sadoine J, Le Denmat D, Briet C, Motte E, Clauser E, Bougneres P, Chaussain C, Silve C (2017) Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis. J Bone Miner Res 32:333-346 (PMID: 27589370) (doi: 10.1002/jbmr.2987)

Motte E, Le Stunff C, Briet C, Dumaz N, Silve C (2017) Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance. Mol Cell Endocrinol 442:1-11 (PMID: 27908835) (doi: 10.1016/j.mce.2016.11.026)

Nury T, Zarrouk A, Ragot K, Debbabi M, Riedinger JM, Vejux A, Aubourg P, Lizard G (2017) 7-Ketocholesterol is increased in the plasma of X-ALD patients and induces peroxisomal modifications in microglial cells: Potential roles of 7-ketocholesterol in the pathophysiology of X-ALD. J Steroid Biochem Mol Biol 169:123-136 (PMID: 27041118) (doi: 10.1016/j.jsbmb.2016.03.037)

Équipe 3

Adams D, Suhr OB, Dyck PJ, Litchy WJ, Leahy RG, Chen J, Gollob J, Coelho T (2017) Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy. BMC Neurology 17:181 (PMID: 28893208) (doi: 10.1186/s12883-017-0948-5)

Ali HM, Qureshi AS, Hussain R, Urbinati G, Mustafa MZ, Ali F, Manan A, Massaad-Massade L (2017) Effects of natural environment on reproductive histo-morphometric dynamics of female dromedary camel. Anim Reprod Sci 181:30-40 (PMID: 28413155) (doi: 10.1016/j.anireprosci.2017.03.012)

Creze M, Zaitouna M, Krystel NT, Diallo D, Lebacle C, Bellin MF, Ducreux D, Benoit G, Bessede T (2017) Functional and structural microanatomy of the fetal sciatic nerve. Muscle Nerve 56:787-796 (PMID: 28006841) (doi: 10.1002/mus.25531)

Dupain C, Harttrampf AC, Urbinati G, Geoerger B, Massaad-Massade L (2017) Relevance of Fusion Genes in Pediatric Cancers: Toward Precision Medicine. Molecular therapy Nucleic acids 6:315-326 (PMID: 28325298) (doi: 10.1016/j.omtn.2017.01.005)

Gerges Geagea A, Rizzo M, Eid A, Hajj Hussein I, Zgheib Z, Zeenny MN, Jurjus R, Uzzo ML, Spatola GF, Bonaventura G, Leone A, Massaad-Massade L, Jurjus A (2017) Tea catechins induce crosstalk between signaling pathways and stabilize mast cells in ulcerative colitis. J Biol Regul Homeost Agents 31:865-877 (PMID: 29254289)

Nyangoh Timoh K, Bessede T, Lebacle C, Zaitouna M, Martinovic J, Diallo D, Creze M, Chevallier JM, Darai E, Benoit G, Moszkowicz D (2017) Levator ani muscle innervation: Anatomical study in human fetus. Neurourol Urodyn 36:1464-1471 (PMID: 27813139) (doi: 10.1002/nau.23145)

Zaitouna M, Alsaid B, Lebacle C, Timoh KN, Benoit G, Bessede T (2017) Origin and nature of pelvic ureter innervation. Neurourol Urodyn 36:271-279 (PMID: 28235166) (doi: 10.1002/nau.22919)

Adams D, Cauquil C, Labeyrie C (2017) Familial amyloid polyneuropathy. Curr Opin Neurol 30:481-489 (PMID: 28678039) (doi: 10.1097/wco.0000000000000476)

Bessede T, Sooriakumaran P, Takenaka A, Tewari A (2017) Neural supply of the male urethral sphincter: comprehensive anatomical review and implications for continence recovery after radical prostatectomy. World J Urol 35:549-565 (PMID: 27484205) (doi: 10.1007/s00345-016-1901-8)

Mortada I, Leone A, Gerges Geagea A, Mortada R, Matar C, Rizzo M, Hajj Hussein I, Massaad-Massade L, Jurjus A (2017) Oral manifestations of inflammatory bowel disease. J Biol Regul Homeost Agents 31:817-821 (PMID: 28958141)

Équipe 4

Abiusi E, D’Alessandro M, Dieterich K, Quevarec L, Turczynski S, Valfort AC, Mezin P, Jouk PS, Gut M, Gut I, Bessereau JL, Melki J (2017) Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis. Hum Mol Genet 26:3989-3994 (PMID: 29016857) (doi: 10.1093/hmg/ddx288)

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM (2017) Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. Neurology Genetics 3:e208 (PMID: 29264399) (doi: 10.1212/nxg.0000000000000208)

Decostre V, Laforet P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY (2017) Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa. Mol Genet Metab 122:108-116 (PMID: 28888851) (doi: 10.1016/j.ymgme.2017.08.010)

Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL, Duffourd Y, St-Onge J, Jouan T, Riviere JB, Heron D, Donadieu J, Bellanne-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, Gautier E, Maystadt I, Pinson L, Amram D, El Chehadeh S, Melki J, Julia S, Faivre L, Thevenon J (2017) Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. American journal of medical genetics Part A 173:62-71 (PMID: 27615324) (doi: 10.1002/ajmg.a.37969)

Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerriere A, Reversade B, Melki J (2017) Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. Am J Hum Genet 100:659-665 (PMID: 28318499) (doi: 10.1016/j.ajhg.2017.02.006)

Adriaenssens E, Geuens T, Baets J, Echaniz-Laguna A, Timmerman V (2017) Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases. Brain 140:2541-2549 (PMID: 28969372) (doi: 10.1093/brain/awx187)

Echaniz-Laguna A, Lornage X, Lannes B, Schneider R, Bierry G, Dondaine N, Boland A, Deleuze JF, Bohm J, Thompson J, Laporte J, Biancalana V (2017a) HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. Acta Neuropathol 134:163-165 (PMID: 28501893) (doi: 10.1007/s00401-017-1724-8)

Echaniz-Laguna A, Geuens T, Petiot P, Pereon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T (2017b) Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. Hum Mutat 38:556-568 (PMID: 28144995) (doi: 10.1002/humu.23189)

Farina F, Lambert E, Commeau L, Lejeune FX, Roudier N, Fonte C, Parker JA, Boddaert J, Verny M, Baulieu EE, Neri C (2017) The stress response factor daf-16/FOXO is required for multiple compound families to prolong the function of neurons with Huntington’s disease. Scientific reports 7:4014 (PMID: 28638078) (doi: 10.1038/s41598-017-04256-w)

Frydman N, Poulain M, Arkoun B, Duquenne C, Tourpin S, Messiaen S, Habert R, Rouiller-Fabre V, Benachi A, Livera G (2017) Human foetal ovary shares meiotic preventing factors with the developing testis. Hum Reprod 32:631-642 (PMID: 28073973) (doi: 10.1093/humrep/dew343)