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Items: 1 to 20 of 24

1.
Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations
Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, Emilien Bernard
Genes (Basel) 2021 Dec; 12(12): 1876. Published online 2021 Nov 25. doi: 10.3390/genes12121876
PMCID:
PMC8700784
AbstractArticlePDF–391K
2.
The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population
Tiebiao Liang, Xianbo Zhang, Anshan Liang, Haiqing Wu, Qi Wang, Jun He, Ming Long, Tianbo Jin
BMC Med Genomics. 2021; 14: 220. Published online 2021 Sep 7. doi: 10.1186/s12920-021-01067-x
PMCID:
PMC8422734
AbstractArticlePDF–968K
3.
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5
Cheng‐Ta Chou, Bing‐Wen Soong, Kon‐Ping Lin, Yu‐Shuen Tsai, Kang‐Yang Jih, Yi‐Chu Liao, Yi‐Chung Lee
Ann Clin Transl Neurol. 2020 Apr; 7(4): 486–496. Published online 2020 Mar 22. doi: 10.1002/acn3.51019
PMCID:
PMC7187706
AbstractArticlePDF–2.1M
4.
An omics investigation into chronic widespread musculoskeletal pain reveals epiandrosterone sulfate as a potential biomarker
Gregory Livshits, Alexander J. Macgregor, Christian Gieger, Ida Malkin, Alireza Moayyeri, Harald Grallert, Rebecca T. Emeny, Tim Spector, Gabi Kastenmüller, Frances M.K. Williams
Pain. 2015 Oct; 156(10): 1845–1851. Published online 2015 Apr 22. doi: 10.1097/j.pain.0000000000000200
PMCID:
PMC4770329
AbstractArticlePDF–436K
5.
Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection
Manuela Sironi, Mara Biasin, Chiara Pontremoli, Rachele Cagliani, Irma Saulle, Daria Trabattoni, Francesca Vichi, Sergio Lo Caputo, Francesco Mazzotta, Wbeimar Aguilar-Jimenez, Maria Teresa Rugeles, Samandhy Cedeno, Jorge Sanchez, Christian Brander, Mario Clerici
Retrovirology. 2015; 12: 80. Published online 2015 Sep 24. doi: 10.1186/s12977-015-0206-0
PMCID:
PMC4581478
AbstractArticlePDF–847K
6.
CYP7B1: One Cytochrome P450, Two Human Genetic Diseases, and Multiple Physiological Functions
Ashlee R. Stiles, Jeffrey G. McDonald, David R. Bauman, David W. Russell
J Biol Chem. 2009 Oct 16; 284(42): 28485–28489. Published online 2009 Aug 16. doi: 10.1074/jbc.R109.042168
PMCID:
PMC2781391
AbstractArticlePDF–273K
7.
Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration
Maria K. Tsaousidou, Karim Ouahchi, Tom T. Warner, Yi Yang, Michael A. Simpson, Nigel G. Laing, Philip A. Wilkinson, Ricardo E. Madrid, Heema Patel, Faycal Hentati, Michael A. Patton, Afif Hentati, Philippa J. Lamont, Teepu Siddique, Andrew H. Crosby
Am J Hum Genet. 2008 Feb 8; 82(2): 510–515. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.001
PMCID:
PMC2426914
AbstractArticlePDF–488K
8.
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
K D Setchell, M Schwarz, N C O'Connell, E G Lund, D L Davis, R Lathe, H R Thompson, R Weslie Tyson, R J Sokol, D W Russell
J Clin Invest. 1998 Nov 1; 102(9): 1690–1703. doi: 10.1172/JCI2962
PMCID:
PMC509117
SummaryPDF–595K
9.
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden
Eur J Hum Genet. 2016 Jun; 24(6): 857–863. Published online 2015 Sep 16. doi: 10.1038/ejhg.2015.200
PMCID:
PMC4688955
AbstractArticlePDF–859K
10.
Genome-Wide Association Study of Retinopathy in Individuals without Diabetes
Richard A. Jensen, Xueling Sim, Xiaohui Li, Mary Frances Cotch, M. Kamran Ikram, Elizabeth G. Holliday, Gudny Eiriksdottir, Tamara B. Harris, Fridbert Jonasson, Barbara E. K. Klein, Lenore J. Launer, Albert Vernon Smith, Eric Boerwinkle, Ning Cheung, Alex W. Hewitt, Gerald Liew, Paul Mitchell, Jie Jin Wang, John Attia, Rodney Scott, Nicole L. Glazer, Thomas Lumley, Barbara McKnight, Bruce M. Psaty, Kent Taylor, Albert Hofman, Paulus T. V. M. de Jong, Fernando Rivadeneira, Andre G. Uitterlinden, Wan-Ting Tay, Yik Ying Teo, Mark Seielstad, Jianjun Liu, Ching-Yu Cheng, Seang-Mei Saw, Tin Aung, Santhi K. Ganesh, Christopher J. O'Donnell, Mike A. Nalls, Kerri L. Wiggins, Jane Z. Kuo, The Blue Mountains Eye Study GWAS team, CKDGen Consortium, Cornelia M. van Duijn, Vilmundur Gudnason, Ronald Klein, David S. Siscovick, Jerome I. Rotter, E. Shong Tai, Johannes Vingerling, Tien Y. Wong
PLoS One. 2013; 8(2): e54232. Published online 2013 Feb 5. doi: 10.1371/journal.pone.0054232
PMCID:
PMC3564946
AbstractArticlePDF–724K
11.
Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure
Jairam R. Lingappa, Slavé Petrovski, Erin Kahle, Jacques Fellay, Kevin Shianna, M. Juliana McElrath, Katherine K. Thomas, Jared M. Baeten, Connie Celum, Anna Wald, Guy de Bruyn, James I. Mullins, Edith Nakku-Joloba, Carey Farquhar, Max Essex, Deborah Donnell, James Kiarie, Bart Haynes, David Goldstein, for the Partners in Prevention HSV/HIV Transmission Study Team
PLoS One. 2011; 6(12): e28632. Published online 2011 Dec 12. doi: 10.1371/journal.pone.0028632
Correction in:
PLoS One. 2012; 7(1): 10.1371/annotation/1dcd8ee4-bcf4-4cf6-97a3-2e26f0f77060.
PMCID:
PMC3236203
AbstractArticlePDF–273K
12.
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans
J L Del-Aguila, A L Beitelshees, R M Cooper-DeHoff, A B Chapman, J G Gums, K Bailey, Y Gong, S T Turner, J A Johnson, E Boerwinkle
Pharmacogenomics J. 2014 Feb; 14(1): 35–40. Published online 2013 Feb 12. doi: 10.1038/tpj.2013.3
PMCID:
PMC3812324
AbstractArticlePDF–662K
13.
PTEN IDENTIFIED AS IMPORTANT RISK FACTOR OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE
H Dean Hosgood, III, Idan Menashe, Xingzhou He, Stephen Chanock, Qing Lan
Respir Med. Author manuscript; available in PMC 2010 Dec 1.
Published in final edited form as: Respir Med. 2009 Dec; 103(12): 1866–1870. Published online 2009 Jul 21. doi: 10.1016/j.rmed.2009.06.016
PMCID:
PMC2783799
AbstractArticlePDF–315K
14.
Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway
H.Dean Hosgood, III, Idan Menashe, Min Shen, Meredith Yeager, Jeff Yuenger, Preetha Rajaraman, Xingzhou He, Nilanjan Chatterjee, Neil E. Caporaso, Yong Zhu, Stephen J. Chanock, Tongzhang Zheng, Qing Lan
Carcinogenesis. 2008 Oct; 29(10): 1938–1943. Published online 2008 Aug 1. doi: 10.1093/carcin/bgn178
PMCID:
PMC2722857
AbstractArticlePDF–181K
15.
Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China
Min Shen, Roel Vermeulen, Preetha Rajaraman, Idan Menashe, Xingzhou He, Robert S. Chapman, Meredith Yeager, Gilles Thomas, Laurie Burdett, Amy Hutchinson, Jeff Yuenger, Stephen Chanock, Qing Lan
Environ Mol Mutagen. Author manuscript; available in PMC 2010 May 1.
Published in final edited form as: Environ Mol Mutagen. 2009 May; 50(4): 285–290. doi: 10.1002/em.20452
PMCID:
PMC2666781
AbstractArticlePDF–311K
16.
Genetic Susceptibility to Distinct Bladder Cancer Subphenotypes
Lin T. Guey, Montserrat García-Closas, Cristiane Murta-Nascimento, Josep Lloreta, Laia Palencia, Manolis Kogevinas, Nathaniel Rothman, Gemma Vellalta, Malu Calle, Gaëlle Marenne, Adonina Tardón, Alfredo Carrato, Reina García-Closas, Consol Serra, Debra T Silverman, Stephen Chanock, Francisco X. Real, Núria Malats
Eur Urol. Author manuscript; available in PMC 2011 Nov 18.
Published in final edited form as: Eur Urol. 2010 Feb; 57(2): 283–292. Published online 2009 Aug 12. doi: 10.1016/j.eururo.2009.08.001
PMCID:
PMC3220186
AbstractArticlePDF–595K
17.
Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions
Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano
Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604
PMCID:
PMC515316
AbstractArticlePDF–181K
18.
Physical and functional interactome atlas of human receptor tyrosine kinases
Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo
EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041
PMCID:
PMC9171411
AbstractArticlePDF–1.9M
19.
Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study
Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators
Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452
PMCID:
PMC2945168
AbstractArticlePDF–153K
20.
Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani
Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014
PMCID:
PMC2775832
AbstractArticlePDF–2.8M

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