PMC Links for Nucleotide (Select 18104951) - 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 60730643.

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 54289004.

Metallothionein 1G promotes the differentiation of HT-29 human colorectal cancer cells

Juan Martín Arriaga, Alicia Inés Bravo, José Mordoh, Michele Bianchini

Oncol Rep. 2017 May; 37(5): 2633–2651. Published online 2017 Apr 3. doi: 10.3892/or.2017.5547

PMCID:: PMC5428900

Abstract Article PDF–1.1M

Select item 53955965.

Mutations in proteasome-related genes are associated with thyroid hemiagenesis

Bartlomiej Budny, Ewelina Szczepanek-Parulska, Tomasz Zemojtel, Witold Szaflarski, Malgorzata Rydzanicz, Joanna Wesoly, Luiza Handschuh, Kosma Wolinski, Katarzyna Piatek, Marek Niedziela, Katarzyna Ziemnicka, Marek Figlerowicz, Maciej Zabel, Marek Ruchala

Endocrine. 2017; 56(2): 279–285. Published online 2017 Apr 7. doi: 10.1007/s12020-017-1287-4

PMCID:: PMC5395596

Abstract Article PDF–530K

Select item 53648266.

Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease

Zhenghua Liu, Ni Yin, Lianghui Gong, Zhiping Tan, Bangliang Yin, Yifeng Yang, Cheng Luo

Mol Med Rep. 2017 Feb; 15(2): 793–797. Published online 2016 Dec 29. doi: 10.3892/mmr.2016.6092

PMCID:: PMC5364826

Abstract Article PDF–1.2M

Select item 51267887.

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 39567588.

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara

PLoS One. 2014; 9(3): e91598. Published online 2014 Mar 17. doi: 10.1371/journal.pone.0091598

PMCID:: PMC3956758

Abstract Article PDF–893K

Select item 36691239.

Early de novo DNA methylation and prolonged demethylation in the muscle lineage

Koji Tsumagari, Carl Baribault, Jolyon Terragni, Katherine E. Varley, Jason Gertz, Sirharsa Pradhan, Melody Badoo, Charlene M. Crain, Lingyun Song, Gregory E. Crawford, Richard M. Myers, Michelle Lacey, Melanie Ehrlich

Epigenetics. 2013 Mar 1; 8(3): 317–332. Published online 2013 Feb 15. doi: 10.4161/epi.23989

PMCID:: PMC3669123

Abstract Article PDF–2.8M

Select item 358346510.

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 319682411.

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 297607612.

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 147251313.

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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