PMC Links for Nucleotide (Select 1677473130) - PMC

Select item 64509961.

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5

Yasuyo Kashiwagi, Shinji Suzuki, Kazushi Agata, Yasuyuki Morishima, Natsuko Inagaki, Hironao Numabe, Hisashi Kawashima

CEN Case Rep. 2019 May; 8(2): 75–78. Published online 2018 Oct 6. doi: 10.1007/s13730-018-0368-4

PMCID:: PMC6450996

Select item 63869592.

Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis

Jenny Frese, Matthias Kettwig, Hildegard Zappel, Johannes Hofer, Hermann-Josef Gröne, Mato Nagel, Gere Sunder-Plassmann, Renate Kain, Jörg Neuweiler, Oliver Gross

Int J Mol Sci. 2019 Feb; 20(3): 519. Published online 2019 Jan 26. doi: 10.3390/ijms20030519

PMCID:: PMC6386959

Abstract Article PDF–1.7M

Select item 16828753.

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

B Knebelmann, G Deschenes, F Gros, M C Hors, J P Grünfeld, J Zhou, K Tryggvason, M C Gubler, C Antignac

Am J Hum Genet. 1992 Jul; 51(1): 135–142.

Correction in:: Am J Hum Genet. 1992 Oct; 51(4): 942.

PMCID:: PMC1682875

Summary Page Browse PDF–1.6M

Select item 66607004.

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 66253655.

Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome

Shunlai Shang, Fei Peng, Tao Wang, Xiaoyuan Wu, Ping Li, Qinggang Li, Xiang M. Chen

Mol Genet Genomic Med. 2019 Jul; 7(7): e00741. Published online 2019 May 29. doi: 10.1002/mgg3.741

PMCID:: PMC6625365

Abstract Article PDF–1.1M

Select item 63918206.

Non-collagen genes role in digenic Alport syndrome

S. Daga, C. Fallerini, S. Furini, C. Pecoraro, F. Scolari, F. Ariani, M. Bruttini, M. A. Mencarelli, F. Mari, A. Renieri, A. M. Pinto

BMC Nephrol. 2019; 20: 70. Published online 2019 Feb 26. doi: 10.1186/s12882-019-1258-5

PMCID:: PMC6391820

Abstract Article PDF–712K

Select item 59478527.

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 52978708.

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 45005929.

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome

Barshagul T. Baikara, Elena V. Zholdybayeva, Saule E. Rakhimova, Nazym B. Nigmatullina, Kuvat T. Momynaliev, Yerlan M. Ramanculov

PLoS One. 2015; 10(7): e0132010. Published online 2015 Jul 13. doi: 10.1371/journal.pone.0132010

PMCID:: PMC4500592

Abstract Article PDF–676K

Select item 417154110.

Podocyte Injury Caused by Indoxyl Sulfate, a Uremic Toxin and Aryl-Hydrocarbon Receptor Ligand

Osamu Ichii, Saori Otsuka-Kanazawa, Teppei Nakamura, Masaaki Ueno, Yasuhiro Kon, Weiping Chen, Avi Z. Rosenberg, Jeffrey B. Kopp

PLoS One. 2014; 9(9): e108448. Published online 2014 Sep 22. doi: 10.1371/journal.pone.0108448

PMCID:: PMC4171541

Abstract Article PDF–3.4M

Select item 379491511.

Responses of Murine and Human Macrophages to Leptospiral Infection: A Study Using Comparative Array Analysis

Feng Xue, Xinghui Zhao, Yingchao Yang, Jinping Zhao, Yutao Yang, Yongguo Cao, Cailing Hong, Yuan Liu, Lan Sun, Minjun Huang, Junchao Gu

PLoS Negl Trop Dis. 2013 Oct; 7(10): e2477. Published online 2013 Oct 10. doi: 10.1371/journal.pntd.0002477

PMCID:: PMC3794915

Abstract Article PDF–1.1M

Select item 313204612.

Regulation of chondrocyte gene expression by osteogenic protein-1

Susan Chubinskaya, Lori Otten, Stephan Soeder, Jeffrey A Borgia, Thomas Aigner, David C Rueger, Richard F Loeser

Arthritis Res Ther. 2011; 13(2): R55. Published online 2011 Mar 29. doi: 10.1186/ar3300

PMCID:: PMC3132046

Abstract Article PDF–415K

Select item 277135713.

Tissue Compartment Analysis for Biomarker Discovery by Gene Expression Profiling

Antoine Disset, Lydie Cheval, Olga Soutourina, Jean-Paul Duong Van Huyen, Guorong Li, Christian Genin, Jacques Tostain, Alexandre Loupy, Alain Doucet, Rabary Rajerison

PLoS One. 2009; 4(11): e7779. Published online 2009 Nov 10. doi: 10.1371/journal.pone.0007779

PMCID:: PMC2771357

Abstract Article PDF–394K

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