PMC Links for Nucleotide (Select 568815306) - PMC

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Items: 18

Select item 59922281.

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Yoshiro Suzuki, David Chitayat, Hirotake Sawada, Matthew A. Deardorff, Heather M. McLaughlin, Amber Begtrup, Kathryn Millar, Jennifer Harrington, Karen Chong, Maian Roifman, Katheryn Grand, Makoto Tominaga, Fumio Takada, Shirley Shuster, Megumi Obara, Hiroshi Mutoh, Reiko Kushima, Gen Nishimura

Am J Hum Genet. 2018 Jun 7; 102(6): 1104–1114. Published online 2018 May 31. doi: 10.1016/j.ajhg.2018.04.006

PMCID:: PMC5992228

Article PDF–1.6M

Select item 57922972.

Differential effect of ABCB1 haplotypes on promoter activity

Jordan T. Speidel, Meixiang Xu, Sherif Z. Abdel-Rahman

Pharmacogenet Genomics. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Pharmacogenet Genomics. 2018 Mar; 28(3): 69–77. doi: 10.1097/FPC.0000000000000323

PMCID:: PMC5792297

Article PDF–709K

Select item 48542693.

The effect of ABCB1 polymorphisms on the outcome of breast cancer treatment

Sonam Tulsyan, Rama Devi Mittal, Balraj Mittal

Pharmgenomics Pers Med. 2016; 9: 47–58. Published online 2016 Apr 27. doi: 10.2147/PGPM.S86672

PMCID:: PMC4854269

Article PDF–364K

Select item 45762244.

Methylation profile of the promoter CpG islands of 14 “drug-resistance” genes in hepatocellular carcinoma

Sheng Ding, Bang-Dong Gong, Jian Yu, Jun Gu, Hong-Yu Zhang, Zu-Bin Shang, Qi Fei, Peng Wang, Jing-De Zhu

World J Gastroenterol. 2004 Dec 1; 10(23): 3433–3440. Published online 2004 Dec 1. doi: 10.3748/wjg.v10.i23.3433

PMCID:: PMC4576224

Article PDF–194K

Select item 40308625.

Hyaluronidases Have Strong Hydrolytic Activity toward Chondroitin 4-Sulfate Comparable to that for Hyaluronan

Tomoko Honda, Tomoyuki Kaneiwa, Shuji Mizumoto, Kazuyuki Sugahara, Shuhei Yamada

Biomolecules. 2012 Dec; 2(4): 549–563. Published online 2012 Nov 12. doi: 10.3390/biom2040549

PMCID:: PMC4030862

Article PDF–613K

Select item 35167576.

Identification of Amino Acid Residues Required for the Substrate Specificity of Human and Mouse Chondroitin Sulfate Hydrolase (Conventional Hyaluronidase-4)

Tomoyuki Kaneiwa, Anzu Miyazaki, Ryo Kogawa, Shuji Mizumoto, Kazuyuki Sugahara, Shuhei Yamada

J Biol Chem. 2012 Dec 7; 287(50): 42119–42128. Published online 2012 Oct 19. doi: 10.1074/jbc.M112.360693

PMCID:: PMC3516757

Article PDF–2.6M

Select item 35141447.

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling

Qi Li, Qing-wen Zhu, Yong-yi Yuan, Sha-sha Huang, Dong-yi Han, De-liang Huang, Pu Dai

J Transl Med. 2012; 10: 225. Published online 2012 Nov 14. doi: 10.1186/1479-5876-10-225

PMCID:: PMC3514144

Article PDF–192K

Select item 30987588.

Very important pharmacogene summary: ABCB1 (MDR1, P-glycoprotein)

Laura M. Hodges, Svetlana M. Markova, Leslie W. Chinn, Jason M. Gow, Deanna L. Kroetz, Teri E. Klein, Russ B. Altman

Pharmacogenet Genomics. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Pharmacogenet Genomics. 2011 Mar; 21(3): 152–161. doi: 10.1097/FPC.0b013e3283385a1c

PMCID:: PMC3098758

Article PDF–320K

Select item 30107679.

DNA methylation and histone H3-K9 modifications contribute to MUC17 expression

Sho Kitamoto, Norishige Yamada, Seiya Yokoyama, Izumi Houjou, Michiyo Higashi, Masamichi Goto, Surinder K. Batra, Suguru Yonezawa

Glycobiology. 2011 Feb; 21(2): 247–256. Published online 2010 Oct 6. doi: 10.1093/glycob/cwq155

PMCID:: PMC3010767

Article PDF–537K

Select item 289500710.

Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutation and Lung Cancer Risk

Yafei Li, Zhifu Sun, Yanhong Wu, Dusica Babovic-Vuksanovic, Yan Li, Julie M. Cunningham, Vernon S. Pankratz, Ping Yang

Lung Cancer. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Lung Cancer. 2010 Oct; 70(1): 14–21. Published online 2010 Feb 8. doi: 10.1016/j.lungcan.2010.01.005

PMCID:: PMC2895007

Article PDF–807K

Select item 283544111.

Genetic Predictors of Interindividual Variability in Hepatic CYP3A4 Expression

Vishal Lamba, John C. Panetta, Stephen Strom, Erin G. Schuetz

J Pharmacol Exp Ther. 2010 Mar; 332(3): 1088–1099. doi: 10.1124/jpet.109.160804

PMCID:: PMC2835441

Article PDF–891K

Select item 280019712.

Genetic and Molecular Analyses of PEG10 Reveal New Aspects of Genomic Organization, Transcription and Translation

Heike Lux, Heiko Flammann, Mathias Hafner, Andreas Lux

PLoS One. 2010; 5(1): e8686. Published online 2010 Jan 13. doi: 10.1371/journal.pone.0008686

PMCID:: PMC2800197

Article PDF–1.2M

Select item 276728713.

Gefitinib–phenytoin interaction is not correlated with the ¹⁴C-erythromycin breath test in healthy male volunteers

Stephanie Chhun, Celine Verstuyft, Nathalie Rizzo-Padoin, Guy Simoneau, Laurent Becquemont, Ilana Peretti, Alan Swaisland, Robert Wortelboer, Jean Francois Bergmann, Stephane Mouly

Br J Clin Pharmacol. 2009 Aug; 68(2): 226–237. doi: 10.1111/j.1365-2125.2009.03438.x

PMCID:: PMC2767287

Article PDF–910K

Select item 258144414.

Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis

Sara J. Bowne, Lori S. Sullivan, Sarah E. Mortimer, Lizbeth Hedstrom, Jingya Zhu, Catherine J. Spellicy, Anisa I. Gire, Dianna Hughbanks-Wheaton, David G. Birch, Richard A. Lewis, John R. Heckenlively, Stephen P. Daiger

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2008 Nov 7.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2006 Jan; 47(1): 34–42. doi: 10.1167/iovs.05-0868

PMCID:: PMC2581444

Article PDF–1.1M

Select item 191352315.

Evolutionary implications of inversions that have caused intra-strand parity in DNA

Kohji Okamura, John Wei, Stephen W Scherer

BMC Genomics. 2007; 8: 160. Published online 2007 Jun 11. doi: 10.1186/1471-2164-8-160

PMCID:: PMC1913523

Article PDF–537K

Select item 177069716.

BRAF and NRAS mutations are uncommon in melanomas arising in diverse internal organs

C W Wong, Y S Fan, T L Chan, A S W Chan, L C Ho, T K F Ma, the Cancer Genome Project, S T Yuen, S Y Leung

J Clin Pathol. 2005 Jun; 58(6): 640–644. doi: 10.1136/jcp.2004.022509

PMCID:: PMC1770697

Article PDF–115K

Select item 177063317.

Detection of BRAF mutations in colorectal tumours and peritoneal washings using a mismatch ligation assay

K Busby, A Morris

J Clin Pathol. 2005 Apr; 58(4): 372–375. doi: 10.1136/jcp.2004.018655

PMCID:: PMC1770633

Article PDF–127K

Select item 44214918.

Identifying Candidate Causal Variants Responsible for Altered Activity of the ABCB1 Multidrug Resistance Gene

Nicole Soranzo, Gianpiero L. Cavalleri, Michael E. Weale, Nicholas W. Wood, Chantal Depondt, Richard Marguerie, Sanjay M. Sisodiya, David B. Goldstein

Genome Res. 2004 Jul; 14(7): 1333–1344. doi: 10.1101/gr.1965304