PMC Links for Nucleotide (Select 22027649) - PMC

Select item 39095531.

Chromosomal structural variations during progression of a prostate epithelial cell line to a malignant metastatic state inactivate the NF2, NIPSNAP1, UGT2B17, and LPIN2 genes

Ankit Malhotra, Yoshiyuki Shibata, Ira M Hall, Anindya Dutta

Cancer Biol Ther. 2013 Sep 1; 14(9): 840–852. Published online 2013 Jul 26. doi: 10.4161/cbt.25329

PMCID:: PMC3909553

Abstract Article PDF–3.0M

Select item 38546692.

Genome Wide Association Study (GWAS) of Chagas Cardiomyopathy in Trypanosoma cruzi Seropositive Subjects

Xutao Deng, Ester C. Sabino, Edecio Cunha-Neto, Antonio L. Ribeiro, Barbara Ianni, Charles Mady, Michael P. Busch, Mark Seielstad, the REDSII Chagas study group from the NHLBI Retrovirus Epidemiology Donor Study-II (REDS-II), International Component

PLoS One. 2013; 8(11): e79629. Published online 2013 Nov 20. doi: 10.1371/journal.pone.0079629

PMCID:: PMC3854669

Abstract Article PDF–408K

Select item 36089303.

Genome-wide association study of body mass index in 23,000 individuals with and without asthma

Erik Melén, Raquel Granell, Manolis Kogevinas, David Strachan, Juan R. Gonzalez, Matthias Wjst, Debbie Jarvis, Markus Ege, Charlotte Braun-Fahrländer, Jon Genuneit, Elisabeth Horak, Emmanuelle Bouzigon, Florence Demenais, Francine Kauffmann, Valérie Siroux, Sven Michel, Andrea von Berg, Andrea Heinzmann, Michael Kabesch, Nicole M. Probst-Hensch, Ivan Curjuric, Medea Imboden, Thierry Rochat, John Henderson, Jonathan A.C. Sterne, Wendy L. McArdle, Jennie Hui, Alan L. James, A. William Musk, Lyle J. Palmer, Allan Becker, Anita L. Kozyrskyj, Moira Chan-Young, Julie E. Park, Andy Leung, Denise Daley, Maxim B. Freidin, Ivan A. Deev, Ludmila M. Ogorodova, Valery P. Puzyrev, Juan C. Celedón, John M. Brehm, Michelle M. Cloutier, Glorisa Canino, Edna Acosta-Pérez, Manuel Soto-Quiros, Lydiana Avila, Anna Bergström, Jessica Magnusson, Cilla Söderhäll, Inger Kull, Salome Scholtens, H. Marike Boezen, Gerard H. Koppelman, Alet H. Wijga, Ingo Marenholz, Jorge Esparza-Gordillo, Susanne Lau, Young-Ae Lee, Marie Standl, Carla M. T. Tiesler, Claudia Flexeder, Joachim Heinrich, Rachel A. Myers, Carole Ober, Dan L. Nicolae, Martin Farrall, Ashish Kumar, Miriam F. Moffatt, William O.C.M. Cookson, Jessica Lasky-Su

Clin Exp Allergy. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Clin Exp Allergy. 2013 Apr; 43(4): 463–474. doi: 10.1111/cea.12054

PMCID:: PMC3608930

Abstract Article PDF–740K

Select item 17361044.

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

P Ferguson, S Chen, M Tayeh, L Ochoa, S Leal, A Pelet, A Munnich, S Lyonnet, H Majeed, H El-Shanti

J Med Genet. 2005 Jul; 42(7): 551–557. doi: 10.1136/jmg.2005.030759

PMCID:: PMC1736104

Summary PDF–131K

Select item 68573075.

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao, Bao-Ping Xu

BMC Med Genet. 2019; 20: 182. Published online 2019 Nov 14. doi: 10.1186/s12881-019-0919-3

PMCID:: PMC6857307

Abstract Article PDF–773K

Select item 67687916.

Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report

Zakiya AL MOSAWI, Wafa MADAN, Barrak AL MOOSAWI, Sayed AL-WADAEI, Husain NASER, Fuad ALI

Arch Rheumatol. 2019 Sep; 34(3): 352–356. Published online 2019 Apr 22. doi: 10.5606/ArchRheumatol.2019.7267

PMCID:: PMC6768791

Abstract Article PDF–241K

Select item 63656507.

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease

David B. Beck, Ivona Aksentijevich

Front Immunol. 2019; 10: 101. Published online 2019 Jan 31. doi: 10.3389/fimmu.2019.00101

PMCID:: PMC6365650

Abstract Article PDF–1.8M

Select item 49573118.

Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study

Hui Yao, Chuanchun Yang, Xiaoli Huang, Luhong Yang, Wei Zhao, Dan Yin, Yuan Qin, Feng Mu, Lin Liu, Ping Tian, Zhisheng Liu, Yun Yang

BMC Med Genet. 2016; 17: 49. Published online 2016 Jul 22. doi: 10.1186/s12881-016-0307-1

PMCID:: PMC4957311

Abstract Article PDF–1.8M

Select item 43319719.

Differential Expression of Gene Profiles in MRGX-treated Lung Cancer

Yong-Kyun Kwon, Seung-Yeul Lee, Hwan-Soo Kang, Jung-Suk Sung, Chong-Kwan Cho, Hwa-Seung Yoo, Seungjin Shin, Jong-Soon Choi, Yeon-Weol Lee, Ik-Soon Jang

J Pharmacopuncture. 2013 Sep; 16(3): 30–38. doi: 10.3831/KPI.2013.16.018

PMCID:: PMC4331971

Abstract Article PDF–971K

Select item 362267810.

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

Corrado Occella, Dario Bleidl, Paolo Nozza, Samantha Mascelli, Alessandro Raso, Giorgio Gimelli, Stefania Gimelli, Elisa Tassano

PLoS One. 2013; 8(4): e61311. Published online 2013 Apr 10. doi: 10.1371/journal.pone.0061311

PMCID:: PMC3622678

Abstract Article PDF–801K

Select item 346386711.

A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome: Description of Two Unrelated Cases From Brazil

Adriana A. Jesus, Mazen Osman, Clovis A. Silva, Peter W. Kim, Tuyet-Hang Pham, Massimo Gadina, Barbara Yang, Débora R. Bertola, Magda Carneiro-Sampaio, Polly J. Ferguson, Blair R. Renshaw, Ken Schooley, Michael Brown, Asma Al-Dosari, Jamil Al-Alami, John E. Sims, Raphaela Goldbach-Mansky, Hatem El-Shanti

Arthritis Rheum. Author manuscript; available in PMC 2012 Oct 4.

Published in final edited form as: Arthritis Rheum. 2011 Dec; 63(12): 4007–4017. doi: 10.1002/art.30588

PMCID:: PMC3463867

Abstract Article PDF–1.5M

Select item 257090112.

Temporal and Spatial Regulation of the Phosphatidate Phosphatases Lipin 1 and 2

Neil Grimsey, Gil-Soo Han, Laura O'Hara, Justin J. Rochford, George M. Carman, Symeon Siniossoglou

J Biol Chem. 2008 Oct 24; 283(43): 29166–29174. doi: 10.1074/jbc.M804278200

PMCID:: PMC2570901

Abstract Article PDF–580K

Select item 128011213.

DISSECTING THE GENETICS OF HUMAN HIGH MYOPIA: A MOLECULAR BIOLOGIC APPROACH

Terri L Young

Trans Am Ophthalmol Soc. 2004 Dec; 102: 423–446.

PMCID:: PMC1280112

Abstract Article PDF–1.3M

Select item 127425814.

A standard curve based method for relative real time PCR data processing

Alexey Larionov, Andreas Krause, William Miller

BMC Bioinformatics. 2005; 6: 62. Published online 2005 Mar 21. doi: 10.1186/1471-2105-6-62

PMCID:: PMC1274258

Abstract Article PDF–888K

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