PMC Links for Nucleotide (Select 1519245091) - PMC

Select item 57301531.

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

Elisabet Einarsdottir, Anna Grauers, Jingwen Wang, Hong Jiao, Stefan A. Escher, Aina Danielsson, Ane Simony, Mikkel Andersen, Steen Bach Christensen, Kristina Åkesson, Ikuyo Kou, Anas M. Khanshour, Acke Ohlin, Carol Wise, Shiro Ikegawa, Juha Kere, Paul Gerdhem

PLoS One. 2017; 12(12): e0189591. Published online 2017 Dec 14. doi: 10.1371/journal.pone.0189591

PMCID:: PMC5730153

Abstract Article PDF–4.4M

Select item 45839492.

Association of variants in CELSR2-PSRC1-SORT1 with risk of serum lipid traits, coronary artery disease and ischemic stroke

Yi-Jiang Zhou, Shao-Cai Hong, Qian Yang, Rui-Xing Yin, Xiao-Li Cao, Wu-Xian Chen

Int J Clin Exp Pathol. 2015; 8(8): 9543–9551. Published online 2015 Aug 1.

PMCID:: PMC4583949

Abstract Article PDF–357K

Select item 40620713.

Amerindian-specific regions under positive selection harbour new lipid variants in Latinos

Arthur Ko, Rita M. Cantor, Daphna Weissglas-Volkov, Elina Nikkola, Prasad M. V. Linga Reddy, Janet S. Sinsheimer, Bogdan Pasaniuc, Robert Brown, Marcus Alvarez, Alejandra Rodriguez, Rosario Rodriguez-Guillen, Ivette C. Bautista, Olimpia Arellano-Campos, Linda L. Muñoz-Hernández, Veikko Salomaa, Jaakko Kaprio, Antti Jula, Matti Jauhiainen, Markku Heliövaara, Olli Raitakari, Terho Lehtimäki, Johan G. Eriksson, Markus Perola, Kirk E. Lohmueller, Niina Matikainen, Marja-Riitta Taskinen, Maribel Rodriguez-Torres, Laura Riba, Teresa Tusie-Luna, Carlos A. Aguilar-Salinas, Päivi Pajukanta

Nat Commun. 2014 Jun 2; 5: 3983. Published online 2014 Jun 2. doi: 10.1038/ncomms4983

PMCID:: PMC4062071

Abstract Article PDF–821K

Select item 162034.

Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes

Qiang Wu, Tom Maniatis

Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3124–3129. Published online 2000 Mar 14. doi: 10.1073/pnas.060027397

PMCID:: PMC16203

Abstract Article PDF–254K

Select item 65030315.

Exome sequencing in 51 early onset non‐familial CRC cases

Jessada Thutkawkorapin, Annika Lindblom, Emma Tham

Mol Genet Genomic Med. 2019 May; 7(5): e605. Published online 2019 Feb 27. doi: 10.1002/mgg3.605

PMCID:: PMC6503031

Abstract Article PDF–947K

Select item 64064976.

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

Elena Bacchelli, Eleonora Loi, Cinzia Cameli, Loredana Moi, Ana Florencia Vega Benedetti, Sylvain Blois, Antonio Fadda, Elena Bonora, Sandra Mattu, Roberta Fadda, Rita Chessa, Elena Maestrini, Giuseppe Doneddu, Patrizia Zavattari

J Clin Med. 2019 Feb; 8(2): 212. Published online 2019 Feb 7. doi: 10.3390/jcm8020212

PMCID:: PMC6406497

Abstract Article PDF–2.3M

Select item 48240127.

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

Ender Karaca, Tamar Harel, Davut Pehlivan, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban Akdemir, Claudia Gonzaga-Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Isikay, Gozde Yesil, Ozge O. Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Hatip Aydin, Tulay Tos, Ayse Aksoy, Darryl C. De Vivo, Preti Jain, B. Bilge Geckinli, Ozlem Sezer, Davut Gul, Burak Durmaz, Ozgur Cogulu, Ferda Ozkinay, Vehap Topcu, Sukru Candan, Alper Han Cebi, Mevlit Ikbal, Elif Yilmaz Gulec, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coskun, Salih Cicek, Kadri Karaer, Asuman Koparir, Mehmet Bugrahan Duz, Emre Kirat, Elif Fenercioglu, Hakan Ulucan, Mehmet Seven, Tulay Guran, Nursel Elcioglu, Mahmut Selman Yildirim, Dilek Aktas, Mehmet Alikaşifoğlu, Mehmet Ture, Tahsin Yakut, John D. Overton, Adnan Yuksel, Mustafa Ozen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R Lupski

Neuron. Author manuscript; available in PMC 2016 Nov 4.

Published in final edited form as: Neuron. 2015 Nov 4; 88(3): 499–513. doi: 10.1016/j.neuron.2015.09.048

PMCID:: PMC4824012

Abstract Article PDF–3.2M

Select item 40289718.

Widespread Exonization of Transposable Elements in Human Coding Sequences is Associated with Epigenetic Regulation of Transcription

Ahsan Huda, Pierre R Bushel

Transcr Open Access. Author manuscript; available in PMC 2014 May 21.

Published in final edited form as: Transcr Open Access. 2013 Jun 19; 1(1): 1000101. Published online 2013 Jun 19. doi: 10.4172/2329-8936.1000101

PMCID:: PMC4028971

Abstract Article PDF–1.9M

Select item 36909709.

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

Gregory T. Jones, Matthew J. Bown, Solveig Gretarsdottir, Simon P.R. Romaine, Anna Helgadottir, Grace Yu, Gerard Tromp, Paul E. Norman, Cao Jin, Annette F. Baas, Jan D. Blankensteijn, Iftikhar J. Kullo, L. Victoria Phillips, Michael J.A. Williams, Ruth Topless, Tony R. Merriman, Thodor M. Vasudevan, David R. Lewis, Ross D. Blair, Andrew A. Hill, Robert D. Sayers, Janet T. Powell, Panagiotis Deloukas, Gudmar Thorleifsson, Stefan E. Matthiasson, Unnur Thorsteinsdottir, Jonathan Golledge, Robert A. Ariëns, Anne Johnson, Soroush Sohrabi, D. Julian Scott, David J. Carey, Robert Erdman, James R. Elmore, Helena Kuivaniemi, Nilesh J. Samani, Kari Stefansson, Andre M. van Rij

Hum Mol Genet. 2013 Jul 15; 22(14): 2941–2947. Published online 2013 Mar 27. doi: 10.1093/hmg/ddt141

PMCID:: PMC3690970

Abstract Article PDF–166K

Select item 313204610.

Regulation of chondrocyte gene expression by osteogenic protein-1

Susan Chubinskaya, Lori Otten, Stephan Soeder, Jeffrey A Borgia, Thomas Aigner, David C Rueger, Richard F Loeser

Arthritis Res Ther. 2011; 13(2): R55. Published online 2011 Mar 29. doi: 10.1186/ar3300

PMCID:: PMC3132046

Abstract Article PDF–415K

Select item 264261611.

Role of SP transcription factors in hormone-dependent modulation of genes in MCF-7 breast cancer cells: microarray and RNA interference studies

Fei Wu, Ivan Ivanov, Rui Xu, Stephen Safe

J Mol Endocrinol. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: J Mol Endocrinol. 2009 Jan; 42(1): 19–33. Published online 2008 Oct 24. doi: 10.1677/JME-08-0088

PMCID:: PMC2642616

Abstract Article PDF–573K

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