PMC Links for Protein (Select 208022653) - PMC

Select item 69464521.

The genetic variants in calcium signaling related genes influence anti-tuberculosis drug induced liver injury: A prospective study

Mengyuan Lyu, Jian Zhou, Hao Chen, Hao Bai, Jiajia Song, Tangyuheng Liu, Yuhui Cheng, Binwu Ying

Medicine (Baltimore) 2019 Nov; 98(44): e17821. Published online 2019 Nov 1. doi: 10.1097/MD.0000000000017821

PMCID:: PMC6946452

Abstract Article PDF–434K

Select item 66938932.

Identification of an emphysema-associated genetic variant near TGFB2 with regulatory effects in lung fibroblasts

Margaret M Parker, Yuan Hao, Feng Guo, Betty Pham, Robert Chase, John Platig, Michael H Cho, Craig P Hersh, Victor J Thannickal, James Crapo, George Washko, Scott H Randell, Edwin K Silverman, Raúl San José Estépar, Xiaobo Zhou, Peter J Castaldi

eLife. 2019; 8: e42720. Published online 2019 Jul 25. doi: 10.7554/eLife.42720

PMCID:: PMC6693893

Abstract Article PDF–1.5M

Select item 68264143.

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

Letizia Camerota, Marco Ritelli, Anita Wischmeijer, Silvia Majore, Valeria Cinquina, Paola Fortugno, Rosanna Monetta, Laura Gigante, Marfan Syndrome Study Group Tor Vergata University Hospital, Federica Carla Sangiuolo, Giuseppe Novelli, Marina Colombi, Francesco Brancati

Genes (Basel) 2019 Oct; 10(10): 764. Published online 2019 Sep 28. doi: 10.3390/genes10100764

PMCID:: PMC6826414

Abstract Article PDF–13M

Select item 42365744.

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani, Marina Venturini, Roberto Maroldi, Piergiacomo Calzavara-Pinton, Marina Colombi

BMC Med Genet. 2014; 15: 91. Published online 2014 Aug 28. doi: 10.1186/s12881-014-0091-8

PMCID:: PMC4236574

Abstract Article PDF–1.0M

Select item 40601075.

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

Ruth Leutermann, Sara Sheikhzadeh, Lars Brockstädt, Meike Rybczynski, Vanessa van Rahden, Kerstin Kutsche, Yskert von Kodolitsch, Georg Rosenberger

Eur J Hum Genet. 2014 Jul; 22(7): 944–948. Published online 2013 Nov 6. doi: 10.1038/ejhg.2013.252

PMCID:: PMC4060107

Abstract Article PDF–893K

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