PMC Links for Nucleotide (Select 1677500171) - PMC

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Items: 15

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 66607002.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 64961323.

Involvement of tazarotene‐induced gene 1 in proliferation and differentiation of human adipose tissue‐derived mesenchymal stem cells

S. Ohnishi, K. Okabe, H. Obata, K. Otani, S. Ishikane, H. Ogino, S. Kitamura, N. Nagaya

Cell Prolif. 2009 Jun; 42(3): 309–316. Published online 2009 Feb 24. doi: 10.1111/j.1365-2184.2008.00592.x

PMCID:: PMC6496132

Abstract Article PDF–433K

Select item 62519004.

The utility of urinary CD80 as a diagnostic marker in patients with renal diseases

Shogo Minamikawa, Kandai Nozu, Shingo Maeta, Tomohiko Yamamura, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Hiroaki Nagase, Hideaki Shima, Kenta Noda, Takeshi Ninchoji, Hiroshi Kaito, Kazumoto Iijima

Sci Rep. 2018; 8: 17322. Published online 2018 Nov 23. doi: 10.1038/s41598-018-35798-2

PMCID:: PMC6251900

Abstract Article PDF–1006K

Select item 62458975.

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari, Anil Vasudevan

BMC Med Genet. 2018; 19: 200. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0714-6

PMCID:: PMC6245897

Abstract Article PDF–710K

Select item 57071856.

Detection of Mutations in Myeloid Malignancies through Paired-Sample Analysis of Microdroplet-PCR Deep Sequencing Data

Donavan T. Cheng, Janice Cheng, Talia N. Mitchell, Aijazuddin Syed, Ahmet Zehir, Nana Yaa T. Mensah, Alifya Oultache, Khedoudja Nafa, Ross L. Levine, Maria E. Arcila, Michael F. Berger, Cyrus V. Hedvat

J Mol Diagn. 2014 Sep; 16(5): 504–518. doi: 10.1016/j.jmoldx.2014.05.006

PMCID:: PMC5707185

Abstract Article PDF–1.3M

Select item 54546207.

Clinical Impact of Overexpression of FOXP3 and WT1 on Disease Outcome in Egyptian Acute Myeloid Leukemia Patients

Magda M Assem, Ahmed Osman, Eman Z Kandeel, Reham A A Elshimy, Hanan R Nassar, Radwa E Ali

Asian Pac J Cancer Prev. 2016; 17(10): 4699–4711. doi: 10.22034/APJCP.2016.17.10.4699

PMCID:: PMC5454620

Abstract Article PDF–465K

Select item 49606028.

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

Reuben J. Pengelly, Liliana Arias, Julio Martínez, Rosanna Upstill-Goddard, Eleanor G. Seaby, Jane Gibson, Sarah Ennis, Andrew Collins, Ignacio Briceño

Sci Rep. 2016; 6: 30457. Published online 2016 Jul 26. doi: 10.1038/srep30457

PMCID:: PMC4960602

Abstract Article PDF–471K

Select item 42731369.

Claudin 1 mediates tumor necrosis factor alpha-induced cell migration in human gastric cancer cells

Atsushi Shiozaki, Hiroki Shimizu, Daisuke Ichikawa, Hirotaka Konishi, Shuhei Komatsu, Takeshi Kubota, Hitoshi Fujiwara, Kazuma Okamoto, Daisuke Iitaka, Shingo Nakashima, Yoshito Nako, Mingyao Liu, Eigo Otsuji

World J Gastroenterol. 2014 Dec 21; 20(47): 17863–17876. Published online 2014 Dec 21. doi: 10.3748/wjg.v20.i47.17863

PMCID:: PMC4273136

Abstract Article PDF–2.2M

Select item 372640110.

Evolutionary conservation of alternative splicing in chicken

S. Katyal, Z. Gao, R.-Z. Liu, R. Godbout

Cytogenet Genome Res. Author manuscript; available in PMC 2013 Jul 29.

Published in final edited form as: Cytogenet Genome Res. 2007; 117(1-4): 146–157. doi: 10.1159/000103175

PMCID:: PMC3726401

Abstract Article PDF–385K

Select item 341539211.

Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics

Marta Fernandez-Mercado, Bon Ham Yip, Andrea Pellagatti, Carwyn Davies, María José Larrayoz, Toshinori Kondo, Cristina Pérez, Sally Killick, Emma-Jane McDonald, María Dolores Odero, Xabier Agirre, Felipe Prósper, María José Calasanz, James S. Wainscoat, Jacqueline Boultwood

PLoS One. 2012; 7(8): e42334. Published online 2012 Aug 9. doi: 10.1371/journal.pone.0042334

PMCID:: PMC3415392

Abstract Article PDF–250K

Select item 339987812.

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation

Remko Hersmus, Yvonne G. van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J. Wolter Oosterhuis, Hennie T. Brüggenwirth, Suzan de Boer, Stefan White, Katja P. Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L. S. Drop, Vincent R. Harley, Leendert H. J. Looijenga

PLoS One. 2012; 7(7): e40858. Published online 2012 Jul 18. doi: 10.1371/journal.pone.0040858

PMCID:: PMC3399878

Abstract Article PDF–570K

Select item 304095013.

ITF2 is a target of CXCR4 in MDA-MB-231 breast cancer cells and is associated with reduced survival in estrogen receptor-negative breast cancer

Hitesh Appaiah, Poornima Bhat-Nakshatri, Rutika Mehta, Mangesh Thorat, Sunil Badve, Harikrishna Nakshatri

Cancer Biol Ther. 2010 Sep 15; 10(6): 600–614. Published online 2010 Sep 4. doi: 10.4161/cbt.10.6.12586

PMCID:: PMC3040950

Abstract Article PDF–7.1M

Select item 246474114.

Programmed Genetic Instability: A Tumor-Permissive Mechanism for Maintaining the Evolvability of Higher Species through Methylation-Dependent Mutation of DNA Repair Genes in the Male Germ Line

Yongzhong Zhao, Richard J. Epstein

Mol Biol Evol. 2008 Aug; 25(8): 1737–1749. Published online 2008 Jun 4. doi: 10.1093/molbev/msn126

PMCID:: PMC2464741

Abstract Article PDF–814K

Select item 204183415.

Gene Expression Profiling of Human Primary Astrocytes Exposed to Manganese Chloride Indicates Selective Effects on Several Functions of the Cells

Amitabha Sengupta, Sarah M. Mense, Changgui Lan, Mei Zhou, Rory E. Mauro, Lisa Kellerman, Galina Bentsman, David J. Volsky, Elan D. Louis, Joseph H. Graziano, Li Zhang

Neurotoxicology. Author manuscript; available in PMC 2008 May 1.

Published in final edited form as: Neurotoxicology. 2007 May; 28(3): 478–489. Published online 2006 Nov 7. doi: 10.1016/j.neuro.2006.10.005