PMC Links for Nucleotide (Select 1780222567) - PMC

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Items: 16

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 65864262.

IN SILICO AND IN VIVO MODELS FOR QATARI SPECIFIC CLASSICAL HOMOCYSTINURIA AS BASIS FOR DEVELOPMENT OF NOVEL THERAPIES

Hesham M. Ismail, Navaneethakrishnan Krishnamoorthy, Nader Al-Dewik, Hatem Zayed, Nura A. Mohamed, Valeria Di Giacomo, Sapna Gupta, Johannes Häberle, Beat Thöny, Henk J. Blom, Waren D. Kruger, Tawfeg Ben-Omran, Gheyath K. Nasrallah

Hum Mutat. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Hum Mutat. 2019 Feb; 40(2): 230–240. Published online 2018 Nov 23. doi: 10.1002/humu.23682

PMCID:: PMC6586426

Abstract Article PDF–1006K

Select item 50540983.

Gene Expression Profiling of Human Epidermal Keratinocytes in Simulated Microgravity and Recovery Cultures

Jade Q. Clement, Shareen M. Lacy, Bobby L. Wilson

Genomics Proteomics Bioinformatics. 2008; 6(1): 8–28. Published online 2008 Jun 14. doi: 10.1016/S1672-0229(08)60017-0

PMCID:: PMC5054098

Abstract Article PDF–1.0M

Select item 48828574.

A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax

Xinxin Zhang, Dehua Ma, Wei Zou, Yibing Ding, Chengchu Zhu, Haiyan Min, Bin Zhang, Wei Wang, Baofu Chen, Minhua Ye, Minghui Cai, Yanqing Pan, Lei Cao, Yueming Wan, Yu Jin, Qian Gao, Long Yi

Respir Res. 2016; 17: 64. Published online 2016 May 27. doi: 10.1186/s12931-016-0377-9

PMCID:: PMC4882857

Abstract Article PDF–1.6M

Select item 42771215.

Pharmacological approaches to improving cognitive function in Down syndrome: current status and considerations

Katheleen J Gardiner

Drug Des Devel Ther. 2015; 9: 103–125. Published online 2014 Dec 17. doi: 10.2147/DDDT.S51476

PMCID:: PMC4277121

Abstract Article PDF–525K

Select item 39265736.

Sources of High Variance between Probe Signals in Affymetrix Short Oligonucleotide Microarrays

Roman Jaksik, Michal Marczyk, Joanna Polanska, Joanna Rzeszowska-Wolny

Sensors (Basel) 2014 Jan; 14(1): 532–548. Published online 2013 Dec 31. doi: 10.3390/s140100532

PMCID:: PMC3926573

Abstract Article PDF–862K

Select item 37988347.

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

André Mégarbané, Florian Noguier, Samantha Stora, Laurent Manchon, Clotilde Mircher, Roman Bruno, Nathalie Dorison, Fabien Pierrat, Marie-Odile Rethoré, Bernadette Trentin, Aimé Ravel, Marine Morent, Gerard Lefranc, David Piquemal

Eur J Hum Genet. 2013 Nov; 21(11): 1253–1259. Published online 2013 Feb 20. doi: 10.1038/ejhg.2013.24

PMCID:: PMC3798834

Abstract Article PDF–410K

Select item 37897878.

Mono and Dual Cofactor Dependence of Human Cystathionine β-Synthase Enzyme Variants In Vivo and In Vitro

Dago Dimster-Denk, Katherine W. Tripp, Nicholas J. Marini, Susan Marqusee, Jasper Rine

G3 (Bethesda) 2013 Oct; 3(10): 1619–1628. Published online 2013 Oct 1. doi: 10.1534/g3.113.006916

PMCID:: PMC3789787

Abstract Article PDF–1.2M

Select item 36765479.

Microarray expression profiling identifies genes with altered expression in Adolescent Idiopathic Scoliosis

Khaled Fendri, Shunmoogum A. Patten, Gabriel N. Kaufman, Charlotte Zaouter, Stefan Parent, Guy Grimard, Patrick Edery, Florina Moldovan

Eur Spine J. 2013 Jun; 22(6): 1300–1311. Published online 2013 Mar 7. doi: 10.1007/s00586-013-2728-2

PMCID:: PMC3676547

Abstract Article PDF–325K

Select item 342376010.

Assessment of the tumourigenic and metastatic properties of SK-MEL28 melanoma cells surviving electrochemotherapy with bleomycin

Vesna Todorovic, Gregor Sersa, Vid Mlakar, Damjan Glavac, Maja Cemazar

Radiol Oncol. 2012 Mar; 46(1): 32–45. Published online 2012 Jan 12. doi: 10.2478/v10019-012-0010-6

PMCID:: PMC3423760

Abstract Article PDF–646K

Select item 325626011.

Genetic Studies of the Cystathionine Beta-Synthase Gene and Myelomeningocele

Melissa M. Tilley, Hope Northrup, Kit Sing Au

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2012 Jan; 94(1): 52–56. Published online 2011 Sep 28. doi: 10.1002/bdra.22855

PMCID:: PMC3256260

Abstract Article PDF–449K

Select item 316032312.

Expression of Cystathionine β-synthase and Cystathionine γ-lyase in Human Pregnant Myometrium and Their Roles in the Control of Uterine Contractility

Xing-Ji You, Chen Xu, Jian-Qiang Lu, Xiao-Yan Zhu, Lu Gao, Xiao-Rui Cui, Yuan Li, Hang Gu, Xin Ni

PLoS One. 2011; 6(8): e23788. Published online 2011 Aug 23. doi: 10.1371/journal.pone.0023788

PMCID:: PMC3160323

Abstract Article PDF–684K

Select item 290826113.

Genetic Risk Factors for Hepatopulmonary Syndrome in Patients With Advanced Liver Disease

Kari E. Roberts, Steven M. Kawut, Michael J. Krowka, Robert S. Brown, Jr, James F. Trotter, Vijay Shah, Inga Peter, Hocine Tighiouart, Nandita Mitra, Elizabeth Handorf, James A. Knowles, Steven Zacks, Michael B. Fallon

Gastroenterology. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Gastroenterology. 2010 Jul; 139(1): 130–9.e24. Published online 2010 Mar 24. doi: 10.1053/j.gastro.2010.03.044

PMCID:: PMC2908261

Abstract Article PDF–179K

Select item 288174714.

Ischemia/Reperfusion Reduces Transcription Factor Sp1-mediated Cystathionine β-Synthase Expression in the Kidney

Nan Wu, Yaw L. Siow, Karmin O

J Biol Chem. 2010 Jun 11; 285(24): 18225–18233. Published online 2010 Apr 14. doi: 10.1074/jbc.M110.132142

PMCID:: PMC2881747

Abstract Article PDF–1.3M

Select item 267556815.

Genetic Risk Factors for Portopulmonary Hypertension in Patients with Advanced Liver Disease

Kari E. Roberts, Michael B. Fallon, Michael J. Krowka, Robert S. Brown, James F. Trotter, Inga Peter, Hocine Tighiouart, James A. Knowles, Daniel Rabinowitz, Raymond L. Benza, David B. Badesch, Darren B. Taichman, Evelyn M. Horn, Steven Zacks, Neil Kaplowitz, Steven M. Kawut, for the Pulmonary Vascular Complications of Liver Disease Study Group

Am J Respir Crit Care Med. 2009 May 1; 179(9): 835–842. Published online 2009 Feb 12. doi: 10.1164/rccm.200809-1472OC

PMCID:: PMC2675568

Abstract Article PDF–130K

Select item 162642116.

Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene–Gene and Gene–Environment Interactions

Abee L. Boyles, Ashley V. Billups, Kristen L. Deak, Deborah G. Siegel, Lorraine Mehltretter, Susan H. Slifer, Alexander G. Bassuk, John A. Kessler, Michael C. Reed, H. Frederik Nijhout, Timothy M. George, David S. Enterline, John R. Gilbert, Marcy C. Speer, the NTD Collaborative Group

Environ Health Perspect. 2006 Oct; 114(10): 1547–1552. Published online 2006 Jun 15. doi: 10.1289/ehp.9166