PMC Links for Nucleotide (Select 1676320223) - PMC

Select item 45649901.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

Am J Hum Genet. 2015 Sep 3; 97(3): 483–492. Published online 2015 Aug 27. doi: 10.1016/j.ajhg.2015.08.001

PMCID:: PMC4564990

Abstract Article PDF–2.1M

Select item 13777692.

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

M Seri, R Cusano, P Forabosco, R Cinti, F Caroli, P Picco, R Bini, V B Morra, G De Michele, M Lerone, M Silengo, I Pela, C Borrone, G Romeo, M Devoto

Am J Hum Genet. 1999 Feb; 64(2): 586–593. doi: 10.1086/302241

PMCID:: PMC1377769

Summary PDF–241K

Select item 53126423.

DNA methylation data for identification of epigenetic targets of resveratrol in triple negative breast cancer cells

Rubiceli Medina-Aguilar, Carlos Pérez-Plasencia, Patricio Gariglio, Laurence A. Marchat, Ali Flores-Pérez, César López-Camarillo, Jaime García Mena

Data Brief. 2017 Apr; 11: 169–182. Published online 2017 Feb 9. doi: 10.1016/j.dib.2017.02.006

PMCID:: PMC5312642

Abstract Article PDF–431K

Select item 33566954.

Human Aldehyde Dehydrogenase Genes: Alternatively-Spliced Transcriptional Variants and Their Suggested Nomenclature

William J. Black, Dimitrios Stagos, Satori A. Marchitti, Daniel W. Nebert, Keith F. Tipton, Amos Bairoch, Vasilis Vasiliou

Pharmacogenet Genomics. Author manuscript; available in PMC 2012 May 20.

Published in final edited form as: Pharmacogenet Genomics. 2009 Nov; 19(11): 893–902. doi: 10.1097/FPC.0b013e3283329023

PMCID:: PMC3356695

Abstract Article PDF–619K

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