PMC Links for Nucleotide (Select 5174710) - PMC

Select item 61948091.

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

Dong Li, Christopher T Gordon, Myriam Oufadem, Jeanne Amiel, Harsh S Kanwar, Marina Bakay, Tiancheng Wang, Hakon Hakonarson, Michael A Levine

J Clin Endocrinol Metab. 2018 Nov; 103(11): 4023–4032. Published online 2018 Aug 20. doi: 10.1210/jc.2018-01260

PMCID:: PMC6194809

Abstract Article

Select item 61510642.

A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication

Nanchao Hong, Erge Zhang, Qingjie Wang, Xiaoqing Zhang, Fen Li, Qihua Fu, Rang Xu, Yu Yu, Sun Chen, Yuejuan Xu, Kun Sun

J Transl Med. 2018; 16: 260. Published online 2018 Sep 21. doi: 10.1186/s12967-018-1633-1

PMCID:: PMC6151064

Abstract Article PDF–1.5M

Select item 64965233.

Human AB serum for generation of mesenchymal stem cells from human chorionic villi: comparison with other source and other media including platelet lysate

A. Poloni, G. Maurizi, F. Serrani, S. Mancini, G. Discepoli, A. L. Tranquilli, R. Bencivenga, P. Leoni

Cell Prolif. 2012 Feb; 45(1): 66–75. Published online 2011 Dec 14. doi: 10.1111/j.1365-2184.2011.00799.x

PMCID:: PMC6496523

Abstract Article PDF–852K

Select item 60730644.

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures

Kosei Hasegawa, Hiroyuki Tanaka, Yousuke Higuchi, Yumiko Hayashi, Katsuhiro Kobayashi, Hirokazu Tsukahara

Clin Pediatr Endocrinol. 2018; 27(3): 159–164. Published online 2018 Jul 31. doi: 10.1297/cpe.27.159

PMCID:: PMC6073064

Abstract Article PDF–1.7M

Select item 58466335.

Microenvironment-driven resistance to B-Raf inhibition in a melanoma patient is accompanied by broad changes of gene methylation and expression in distal fibroblasts

Ondřej Kodet, Barbora Dvořánková, Běla Bendlová, Vlasta Sýkorová, Ivana Krajsová, Jiří Štork, Jan Kučera, Pavol Szabo, Hynek Strnad, Michal Kolář, Čestmír Vlček, Karel Smetana, Jr, Lukáš Lacina

Int J Mol Med. 2018 May; 41(5): 2687–2703. Published online 2018 Feb 1. doi: 10.3892/ijmm.2018.3448

PMCID:: PMC5846633

Abstract Article PDF–1000K

Select item 51267886.

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia

Lieh-Yung Ping, Yang-An Chuang, Shih-Hsin Hsu, Hsin-Yao Tsai, Min-Chih Cheng

Genes (Basel) 2016 Nov; 7(11): 102. Published online 2016 Nov 22. doi: 10.3390/genes7110102

PMCID:: PMC5126788

Abstract Article PDF–450K

Select item 44699137.

Expression Analyses Revealed Thymic Stromal Co-Transporter/Slc46A2 Is in Stem Cell Populations and Is a Putative Tumor Suppressor

Ki Yeon Kim, Gwanghee Lee, Minsang Yoon, Eun Hye Cho, Chan-Sik Park, Moon Gyo Kim

Mol Cells. 2015 Jun 30; 38(6): 548–561. Published online 2015 May 27. doi: 10.14348/molcells.2015.0044

PMCID:: PMC4469913

Abstract Article PDF–644K

Select item 35834658.

Using an exon microarray to identify a global profile of gene expression and alternative splicing in K562 cells exposed to sodium valproate

XIANG-ZHONG ZHANG, AI-HUA YIN, XIAO-YU ZHU, QIAN DING, CHUN-HUAI WANG, YUN-XIAN CHEN

Oncol Rep. 2012 Apr; 27(4): 1258–1265. Published online 2011 Dec 21. doi: 10.3892/or.2011.1601

PMCID:: PMC3583465

Abstract Article PDF–410K

Select item 31968249.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio- facial/DiGeorge/22q11.2 deletion syndrome patients

Tingwei Guo, Donna McDonald McGinn, Anna Blonska, Alan Shanske, Anne Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, M. Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow, the International Chromosome 22q11.2 Consortium

Hum Mutat. Author manuscript; available in PMC 2012 Nov 1.

Published in final edited form as: Hum Mutat. 2011 Nov; 32(11): 1278–1289. Published online 2011 Sep 16. doi: 10.1002/humu.21568

PMCID:: PMC3196824

Abstract Article PDF–2.2M

Select item 302365310.

Gene expression in cardiac tissues from infants with idiopathic conotruncal defects

Douglas C Bittel, Merlin G Butler, Nataliya Kibiryeva, Jennifer A Marshall, Jie Chen, Gary K Lofland, James E O'Brien, Jr

BMC Med Genomics. 2011; 4: 1. Published online 2011 Jan 5. doi: 10.1186/1755-8794-4-1

PMCID:: PMC3023653

Abstract Article PDF–2.6M

Select item 297607611.

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

Helen R Griffin, Ana Töpf, Elise Glen, Christiane Zweier, A Graham Stuart, Jonathan Parsons, Ian Peart, John Deanfield, John O'Sullivan, Anita Rauch, Peter Scambler, John Burn, Heather J Cordell, Bernard Keavney, Judith A Goodship

Heart. 2010 Oct 15; 96(20): 1651–1655. Published online 2010 Oct 11. doi: 10.1136/hrt.2010.200121

PMCID:: PMC2976076

Abstract Article PDF–379K

Select item 147251312.

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome

Richard Paylor, Beate Glaser, Annalisa Mupo, Paris Ataliotis, Corinne Spencer, Angela Sobotka, Chelsey Sparks, Chul-Hee Choi, John Oghalai, Sarah Curran, Kieran C. Murphy, Stephen Monks, Nigel Williams, Michael C. O’Donovan, Michael J. Owen, Peter J. Scambler, Elizabeth Lindsay

Proc Natl Acad Sci U S A. 2006 May 16; 103(20): 7729–7734. Published online 2006 May 9. doi: 10.1073/pnas.0600206103

PMCID:: PMC1472513

Abstract Article PDF–1.3M

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