PMC Links for Books (Select 2408102) - PMC

Select item 59094871.

Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy

Sultan Mohammad Bajawi, Sultan Aqeel Jafarri, Mohammed Ali Buraik, Khalid Mohammed Al Attas, Hasan Yehia Hannani

JAAD Case Rep. 2018 Apr; 4(3): 232–234. Published online 2018 Feb 23. doi: 10.1016/j.jdcr.2017.11.019

PMCID:: PMC5909487

Article PDF–802K

Select item 31935732.

PATHOGENESIS-BASED THERAPY REVERSES CUTANEOUS ABNORMALITIES IN AN INHERITED DISORDER OF DISTAL CHOLESTEROL METABOLISM

Amy S. Paller, Maurice A. M. van Steensel, Marina Rodriguez-Martín, Jennifer Sorrell, Candrice Heath, Debra Crumrine, Michel van Geel, Antonio Noda Cabrera, Peter M. Elias

J Invest Dermatol. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: J Invest Dermatol. 2011 Nov; 131(11): 2242–2248. Published online 2011 Jul 14. doi: 10.1038/jid.2011.189

PMCID:: PMC3193573

Abstract Article PDF–1.0M

Select item 29973643.

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Keith W. McLarren, Tesa M. Severson, Christèle du Souich, David W. Stockton, Lisa E. Kratz, David Cunningham, Glenda Hendson, Ryan D. Morin, Diane Wu, Jessica E. Paul, Jianghong An, Tanya N. Nelson, Athena Chou, Andrea E. DeBarber, Louise S. Merkens, Jacques L. Michaud, Paula J. Waters, Jingyi Yin, Barbara McGillivray, Michelle Demos, Guy A. Rouleau, Karl-Heinz Grzeschik, Raffaella Smith, Patrick S. Tarpey, Debbie Shears, Charles E. Schwartz, Jozef Gecz, Michael R. Stratton, Laura Arbour, Jane Hurlburt, Margot I. Van Allen, Gail E. Herman, Yongjun Zhao, Richard Moore, Richard I. Kelley, Steven J.M. Jones, Robert D. Steiner, F. Lucy Raymond, Marco A. Marra, Cornelius F. Boerkoel

Am J Hum Genet. 2010 Dec 10; 87(6): 905–914. doi: 10.1016/j.ajhg.2010.11.004

PMCID:: PMC2997364

Abstract Article PDF–1.0M

Select item 28720074.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O'Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matt Blow, Chris Greenman, Yali Xue, Chris Tyler-Smith, Deborah Thompson, Kristian Gray, Jenny Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, Rachel Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon Teague, Adam Butler, Andrew Jenkinson, Mingming Jia, David Richardson, Rebecca Shepherd, Richard Wooster, M Isabel Tejada, Francisco Martinez, Gemma Carvill, Rene Goliath, Arjan P M de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans-Hilger Ropers, Fatima E Abidi, Anand K Srivastava, James Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John L Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F Easton, Jackie Boyle, Michael Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E Stevenson, Martin Bobrow, Gillian Turner, Charles E Schwartz, Jozef Gecz, F Lucy Raymond, P Andrew Futreal, Michael R Stratton

Nat Genet. Author manuscript; available in PMC 2010 May 18.

Published in final edited form as: Nat Genet. 2009 May; 41(5): 535–543. Published online 2009 Apr 19. doi: 10.1038/ng.367

PMCID:: PMC2872007

Abstract Article PDF–546K

Select item 17359835.

Mutational spectrum of NSDHL in CHILD syndrome

D Bornholdt, A Konig, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, B Poiares, E Grosshans, P Vabres, S Niiyama, K Sasaoka, T Tanaka, A Meiss, P Treadwell, D Lambert, F Camacho, K Grzeschik

J Med Genet. 2005 Feb; 42(2): e17. doi: 10.1136/jmg.2004.024448

PMCID:: PMC1735983

Summary PDF–276K

Select item 1249986.

Protein–protein interactions among C-4 demethylation enzymes involved in yeast sterol biosynthesis

C. Mo, M. Valachovic, S. K. Randall, J. T. Nickels, M. Bard

Proc Natl Acad Sci U S A. 2002 Jul 23; 99(15): 9739–9744. Published online 2002 Jul 15. doi: 10.1073/pnas.112202799

PMCID:: PMC124998

Abstract Article PDF–290K

Select item 249007.

Characterization of the Saccharomyces cerevisiae ERG26 gene encoding the C-3 sterol dehydrogenase (C-4 decarboxylase) involved in sterol biosynthesis

D. Gachotte, R. Barbuch, J. Gaylor, E. Nickel, M. Bard

Proc Natl Acad Sci U S A. 1998 Nov 10; 95(23): 13794–13799. doi: 10.1073/pnas.95.23.13794

Correction in:: Proc Natl Acad Sci U S A. 1999 Feb 16; 96(4): 1810.

PMCID:: PMC24900

Abstract Article PDF–290K

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