A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development (English)
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In:
Human molecular genetics
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25
, 16
;
3446-
;
2016
- Article (Journal) / Electronic Resource
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Title:A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
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Contributors:Bashamboo, Anu ( author ) / Donohoue, Patricia A. ( author ) / Vilain, Eric ( author ) / Rojo, Sandra ( author ) / Calvel, Pierre ( author ) / Seneviratne, Sumudu N. ( author ) / Buonocore, Federica ( author ) / Barseghyan, Hayk ( author ) / Bingham, Nathan ( author ) / Rosenfeld, Jill A. ( author )
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Published in:Human molecular genetics ; 25, 16 ; 3446-
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Publisher:
- New search for: Oxford University Press
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Publication date:2016-08-15
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 25, Issue 16
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 3395
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Motor neuron mitochondrial dysfunction in spinal muscular atrophyMiller, Nimrod / Shi, Han / Zelikovich, Aaron S. / Ma, Yong-Chao et al. | 2016
- 3407
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A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Menieres diseaseMartín-Sierra, Carmen / Requena, Teresa / Frejo, Lidia / Price, Steven D. / Gallego-Martinez, Alvaro / Batuecas-Caletrio, Angel / Santos-Pérez, Sofía / Soto-Varela, Andrés / Lysakowski, Anna / Lopez-Escamez, Jose A. et al. | 2016
- 3416
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Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish modelMoosajee, Mariya / Tracey-White, Dhani / Smart, Matthew / Weetall, Marla / Torriano, Simona / Kalatzis, Vasiliki / da Cruz, Lyndon / Coffey, Peter / Webster, Andrew R. / Welch, Ellen et al. | 2016
- 3432
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Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson diseaseMagalhaes, Joana / Gegg, Matthew E. / Migdalska-Richards, Anna / Doherty, Mary K. / Whitfield, Phillip D. / Schapira, Anthony H.V. et al. | 2016
- 3446
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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentBashamboo, Anu / Donohoue, Patricia A. / Vilain, Eric / Rojo, Sandra / Calvel, Pierre / Seneviratne, Sumudu N. / Buonocore, Federica / Barseghyan, Hayk / Bingham, Nathan / Rosenfeld, Jill A. et al. | 2016
- 3454
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Transcriptome sequencing reveals aberrant alternative splicing in Huntington's diseaseLin, Lan / Park, Juw Won / Ramachandran, Shyam / Zhang, Yida / Tseng, Yu-Ting / Shen, Shihao / Waldvogel, Henry J. / Curtis, Maurice A. / Faull, Richard L. M. / Troncoso, Juan C. et al. | 2016
- 3467
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Identification of plexin A4 as a novel clusterin receptor links two Alzheimers disease risk genesKang, Silvia S. / Kurti, Aishe / Wojtas, Aleksandra / Baker, Kelsey E. / Liu, Chia-Chen / Kanekiyo, Takahisa / Deming, Yuetiva / Cruchaga, Carlos / Estus, Steven / Bu, Guojun et al. | 2016
- 3476
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The PINK1, synphilin-1 and SIAH-1 complex constitutes a novel mitophagy pathwaySzargel, Raymonde / Shani, Vered / Abd Elghani, Fatimah / Mekies, Lucy N. / Liani, Esti / Rott, Ruth / Engelender, Simone et al. | 2016
- 3491
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Genetic ablation of IP3 receptor 2 increases cytokines and decreases survival of SOD1G93A miceStaats, Kim A. / Humblet-Baron, Stephanie / Bento-Abreu, Andre / Scheveneels, Wendy / Nikolaou, Alexandros / Deckers, Kato / Lemmens, Robin / Goris, An / Van Ginderachter, Jo A. / Van Damme, Philip et al. | 2016
- 3500
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The K153Del PRPH2 mutation differentially impacts photoreceptor structure and functionChakraborty, Dibyendu / Conley, Shannon M. / Zulliger, Rahel / Naash, Muna I. et al. | 2016
- 3515
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LRRK2 modulates microglial activity through regulation of chemokine (C-X3-C) receptor 1 -mediated signalling pathwaysMa, Bo / Xu, Leyan / Pan, Xiaodong / Sun, Lixin / Ding, Jinhui / Xie, Chengsong / Koliatsos, Vassilis E. / Cai, Huaibin et al. | 2016
- 3524
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Cancer-associated isocitrate dehydrogenase mutations induce mitochondrial DNA instabilityKingsbury, Joanne M. / Shamaprasad, Nachiketha / Billmyre, R. Blake / Heitman, Joseph / Cardenas, Maria E. et al. | 2016
- 3539
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Rescue of neural crest-derived phenotypes in a zebrafish CHARGE model by Sox10 downregulationAsad, Zainab / Pandey, Aditi / Babu, Aswini / Sun, Yuhan / Shevade, Kaivalya / Kapoor, Shruti / Ullah, Ikram / Ranjan, Shashi / Scaria, Vinod / Bajpai, Ruchi et al. | 2016
- 3555
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Antisense pre-treatment increases gene therapy efficacy in dystrophic musclesPeccate, Cécile / Mollard, Amédée / Le Hir, Maëva / Julien, Laura / McClorey, Graham / Jarmin, Susan / Le Heron, Anita / Dickson, George / Benkhelifa-Ziyyat, Sofia / Piétri-Rouxel, France et al. | 2016
- 3564
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Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathologyAzar, Ali / Piccinelli, Chiara / Brown, Helen / Headon, Denis / Cheeseman, Michael et al. | 2016
- 3578
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Deletion of amelotin exons 3-6 is associated with amelogenesis imperfectaSmith, Claire E.L. / Murillo, Gina / Brookes, Steven J. / Poulter, James A. / Silva, Sandra / Kirkham, Jennifer / Inglehearn, Chris F. / Mighell, Alan J. et al. | 2016
- 3588
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Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cellsEbrahimi-Fakhari, Darius / Wahlster, Lara / Bartz, Fabian / Werenbeck-Ueding, Jennifer / Praggastis, Maria / Zhang, Jessie / Joggerst-Thomalla, Brigitte / Theiss, Susanne / Grimm, Dirk / Ory, Daniel S. et al. | 2016
- 3600
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Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer riskPermuth, Jennifer B. / Pirie, Ailith / Ann Chen, Y. / Lin, Hui-Yi / Reid, Brett M. / Chen, Zhihua / Monteiro, Alvaro / Dennis, Joe / Mendoza-Fandino, Gustavo / AOCS Study Group, et al. | 2016
- 3613
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Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Lebers hereditary optic neuropathy-associated mitochondrial DNA mutationJiang, Pingping / Liang, Min / Zhang, Chaofan / Zhao, Xiaoxu / He, Qiufen / Cui, Limei / Liu, Xiaoling / Sun, Yan-Hong / Fu, Qun / Ji, Yanchun et al. | 2016
- 3626
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An extended genome-wide association study identifies novel susceptibility loci for nasopharyngeal carcinomaCui, Qian / Feng, Qi-Sheng / Mo, Hao-Yuan / Sun, Jian / Xia, Yun-Fei / Zhang, Hongxing / Foo, Jia Nee / Guo, Yun-Miao / Chen, Li-Zhen / Li, Ming et al. | 2016
- 3635
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A genome-wide association meta-analysis on apolipoprotein A-IV concentrationsLamina, Claudia / Friedel, Salome / Coassin, Stefan / Rueedi, Rico / Yousri, Noha A. / Seppälä, Ilkka / Gieger, Christian / Schönherr, Sebastian / Forer, Lukas / Erhart, Gertraud et al. | 2016
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Front Cover| 2016
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Editorial Board| 2016
- i3
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Subscriptions Page| 2016
- i4
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Table of Contents| 2016