PMC Links for Nucleotide (Select 1519244814) - PMC

Select item 3283791.

Two members of an HNF1 homeoprotein family are expressed in human liver.

I Bach, M G Mattei, S Cereghini, M Yaniv

Nucleic Acids Res. 1991 Jul 11; 19(13): 3553–3559. doi: 10.1093/nar/19.13.3553

PMCID:: PMC328379

Select item 67854452.

The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar

Sara Al‐Khawaga, Idris Mohammed, Saras Saraswathi, Basma Haris, Reem Hasnah, Amira Saeed, Hakeem Almabrazi, Najeeb Syed, Puthen Jithesh, Ahmed El Awwa, Amal Khalifa, Fawziya AlKhalaf, Goran Petrovski, Essam M. Abdelalim, Khalid Hussain

Mol Genet Genomic Med. 2019 Oct; 7(10): e00753. Published online 2019 Aug 23. doi: 10.1002/mgg3.753

PMCID:: PMC6785445

Abstract Article PDF–2.0M

Select item 65425503.

Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells

Shigeharu G. Yabe, Junko Nishida, Satsuki Fukuda, Fujie Takeda, Kiyoko Nasiro, Kazuki Yasuda, Naoko Iwasaki, Hitoshi Okochi

PLoS One. 2019; 14(5): e0217110. Published online 2019 May 30. doi: 10.1371/journal.pone.0217110

PMCID:: PMC6542550

Abstract Article PDF–7.1M

Select item 59478524.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study

Sneh Lata, Maddalena Marasa, Yifu Li, David A. Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M. Slater, Vivette D’Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A. Newton, Maya K. Rao, Jai Radhakrishan, Wooin Ahn, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Corinne Antignac, Glen S. Markowitz, Christine K. Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G. Gharavi

Ann Intern Med. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: Ann Intern Med. 2018 Jan 16; 168(2): 100–109. Published online 2017 Dec 5. doi: 10.7326/M17-1319

Correction in:: Ann Intern Med. 2018 Feb 20; 168(4): 308.

PMCID:: PMC5947852

Abstract Article PDF–364K

Select item 57178325.

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J. Topol, Thomas Seufferlein, Bernhard O. Boehm

BMC Med. 2017; 15: 213. Published online 2017 Dec 6. doi: 10.1186/s12916-017-0977-3

PMCID:: PMC5717832

Abstract Article PDF–799K

Select item 52978706.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith

Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970

PMCID:: PMC5297870

Abstract Article PDF–172K

Select item 44634507.

All-trans-retinoic Acid Increases SLC26A3 DRA (Down-regulated in Adenoma) Expression in Intestinal Epithelial Cells via HNF-1β

Shubha Priyamvada, Arivarasu N. Anbazhagan, Tarunmeet Gujral, Alip Borthakur, Seema Saksena, Ravinder K. Gill, Waddah A. Alrefai, Pradeep K. Dudeja

J Biol Chem. 2015 Jun 12; 290(24): 15066–15077. Published online 2015 Apr 17. doi: 10.1074/jbc.M114.566356

PMCID:: PMC4463450

Abstract Article PDF–3.0M

Select item 40709718.

Direct Reprogramming of Human Fibroblasts to Hepatocyte-Like Cells by Synthetic Modified mRNAs

Kamen P. Simeonov, Hirdesh Uppal

PLoS One. 2014; 9(6): e100134. Published online 2014 Jun 25. doi: 10.1371/journal.pone.0100134

PMCID:: PMC4070971

Abstract Article PDF–4.3M

Select item 40516279.

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant mendelian form of diabetes

Jason Flannick, Nicola L Beer, Alexander G Bick, Vineeta Agarwala, Janne Molnes, Namrata Gupta, Noel P Burtt, Jose C Florez, James B Meigs, Herman Taylor, Valeriya Lyssenko, Henrik Irgens, Ervin Fox, Frank Burslem, Stefan Johansson, M Julia Brosnan, Jeff K Trimmer, Christopher Newton-Cheh, Tiinamaija Tuomi, Anders Molven, James G Wilson, Christopher J O'Donnell, Sekar Kathiresan, Joel N Hirschhorn, Pål R Njølstad, Tim Rolph, J.G. Seidman, Stacey Gabriel, David R Cox, Christine Seidman, Leif Groop, David Altshuler

Nat Genet. Author manuscript; available in PMC 2014 Jun 10.

Published in final edited form as: Nat Genet. 2013 Nov; 45(11): 1380–1385. Published online 2013 Oct 6. doi: 10.1038/ng.2794

PMCID:: PMC4051627

Abstract Article PDF–846K

Select item 349766510.

Hepatitis C Virus Infection Suppresses GLUT2 Gene Expression via Downregulation of Hepatocyte Nuclear Factor 1α

Chieko Matsui, Ikuo Shoji, Shusaku Kaneda, Imelda Rosalyn Sianipar, Lin Deng, Hak Hotta

J Virol. 2012 Dec; 86(23): 12903–12911. doi: 10.1128/JVI.01418-12

PMCID:: PMC3497665

Abstract Article PDF–2.0M

Select item 270135511.

Control of differentiation-induced calbindin-D_9k gene expression in Caco-2 cells by cdx-2 and HNF-1α

Liyong Wang, Anna Klopot, Jean-Noel Freund, Lauren N. Dowling, Stephen D. Krasinski, James C. Fleet

Am J Physiol Gastrointest Liver Physiol. Author manuscript; available in PMC 2009 Jun 24.

Published in final edited form as: Am J Physiol Gastrointest Liver Physiol. 2004 Nov; 287(5): G943–G953. Published online 2004 Jun 24. doi: 10.1152/ajpgi.00121.2004

PMCID:: PMC2701355

Abstract Article PDF–977K

Select item 256450712.

Mutations in hepatocyte nuclear factor‐1β and their related phenotypes

E L Edghill, C Bingham, S Ellard, A T Hattersley

J Med Genet. 2006 Jan; 43(1): 84–90. Published online 2005 Jun 8. doi: 10.1136/jmg.2005.032854

PMCID:: PMC2564507

Abstract Article PDF–234K

Select item 242546913.

Identification of transcriptional regulatory cascades in retinoic acid-induced growth arrest of HepG2 cells

Misato Nakanishi, Yasuhiro Tomaru, Hisashi Miura, Yoshihide Hayashizaki, Masanori Suzuki

Nucleic Acids Res. 2008 Jun; 36(10): 3443–3454. Published online 2008 Apr 29. doi: 10.1093/nar/gkn066

PMCID:: PMC2425469

Abstract Article PDF–355K

Select item 186494414.

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1β in persistent cloaca and associated kidney malformations

Dagan Jenkins, Maria Bitner-Glindzicz, Louise Thomasson, Sue Malcolm, Stephanie A. Warne, Sally A. Feather, Sarah E. Flanagan, Sian Ellard, Coralie Bingham, Lane Santos, Mark Henkemeyer, Andrew Zinn, Linda A. Baker, Duncan T. Wilcox, Adrian S. Woolf

J Pediatr Urol. Author manuscript; available in PMC 2007 May 2.

Published in final edited form as: J Pediatr Urol. 2007 Feb; 3(1): 2–9. doi: 10.1016/j.jpurol.2006.03.002

PMCID:: PMC1864944

Abstract Article PDF–105K

Select item 155748815.

Distinct differentiation characteristics of individual human embryonic stem cell lines

Milla Mikkola, Cia Olsson, Jaan Palgi, Jarkko Ustinov, Tiina Palomaki, Nina Horelli-Kuitunen, Sakari Knuutila, Karolina Lundin, Timo Otonkoski, Timo Tuuri

BMC Dev Biol. 2006; 6: 40. Published online 2006 Aug 8. doi: 10.1186/1471-213X-6-40

PMCID:: PMC1557488

Abstract Article PDF–1.4M

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