PMC Links for Nucleotide (Select 1677499604) - PMC

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Items: 10

Select item 69242621.

Genetically determined vitamin D levels and change in bone density during a weight-loss diet intervention: the Preventing Overweight Using Novel Dietary Strategies (POUNDS Lost) Trial

Tao Zhou, Dianjianyi Sun, Yoriko Heianza, Xiang Li, Catherine M Champagne, Meryl S LeBoff, Xiaoyun Shang, Xiaofang Pei, George A Bray, Frank M Sacks, Lu Qi

Am J Clin Nutr. 2018 Nov; 108(5): 1129–1134. Published online 2018 Nov 23. doi: 10.1093/ajcn/nqy197

PMCID:: PMC6924262

Abstract Article PDF–250K

Select item 67236052.

Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer

Isabel S. Carvalho, Catarina I. Gonçalves, Joana T. Almeida, Teresa Azevedo, Teresa Martins, Fernando J. Rodrigues, Manuel C. Lemos

Genes (Basel) 2019 Aug; 10(8): 572. Published online 2019 Jul 28. doi: 10.3390/genes10080572

PMCID:: PMC6723605

Abstract Article PDF–226K

Select item 61713953.

The Association of PNPLA3, COX-2 and DHCR7 Polymorphisms with Advanced Liver Fibrosis in Patients with HCV Mono-Infection and HCV/HIV Co-Infection

Rattanaporn Kiatbumrung, Natthaya Chuaypen, Sunchai Payungporn, Anchalee Avihingsanon, Pisit Tangkijvanich

Asian Pac J Cancer Prev. 2018; 19(8): 2191–2197. doi: 10.22034/APJCP.2018.19.8.2191

PMCID:: PMC6171395

Abstract Article PDF–322K

Select item 13772564.

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

C A Wassif, C Maslen, S Kachilele-Linjewile, D Lin, L M Linck, W E Connor, R D Steiner, F D Porter

Am J Hum Genet. 1998 Jul; 63(1): 55–62. doi: 10.1086/301936

PMCID:: PMC1377256

Summary PDF–1.5M

Select item 1858145.

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

S Shefer, G Salen, A K Batta, A Honda, G S Tint, M Irons, E R Elias, T C Chen, M F Holick

J Clin Invest. 1995 Oct; 96(4): 1779–1785. doi: 10.1172/JCI118223

PMCID:: PMC185814

Summary Page Browse PDF–1.2M

Select item 209506.

Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Barbara U. Fitzky, Martina Witsch-Baumgartner, Martin Erdel, Joon No Lee, Young-Ki Paik, Hartmut Glossmann, Gerd Utermann, Fabian F. Moebius

Proc Natl Acad Sci U S A. 1998 Jul 7; 95(14): 8181–8186. doi: 10.1073/pnas.95.14.8181

PMCID:: PMC20950

Abstract Article PDF–499K

Select item 192107.

Molecular cloning and expression of the human Δ7-sterol reductase

Fabian F. Moebius, Barbara U. Fitzky, Joon No Lee, Young-Ki Paik, Hartmut Glossmann

Proc Natl Acad Sci U S A. 1998 Feb 17; 95(4): 1899–1902. doi: 10.1073/pnas.95.4.1899

PMCID:: PMC19210

Abstract Article PDF–275K

Select item 59772078.

Validation of Ion Torrent^TM Inherited Disease Panel with the PGM^TM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan

Genes (Basel) 2018 May; 9(5): 267. Published online 2018 May 22. doi: 10.3390/genes9050267

PMCID:: PMC5977207

Abstract Article PDF–424K

Select item 52978709.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith

Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970