PMC Links for Nucleotide (Select 1519315141) - PMC

Result Filters

Links from Nucleotide

Items: 10

Select item 60067401.

SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report

Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji, Masaomi Nangaku

BMC Med Genet. 2018; 19: 103. Published online 2018 Jun 18. doi: 10.1186/s12881-018-0612-y

PMCID:: PMC6006740

Abstract Article PDF–1.2M

Select item 58344912.

CryoEM structure of the human SLC4A4 sodium-coupled acid-base transporter NBCe1

Kevin W. Huynh, Jiansen Jiang, Natalia Abuladze, Kirill Tsirulnikov, Liyo Kao, Xuesi Shao, Debra Newman, Rustam Azimov, Alexander Pushkin, Z. Hong Zhou, Ira Kurtz

Nat Commun. 2018; 9: 900. Published online 2018 Mar 2. doi: 10.1038/s41467-018-03271-3

PMCID:: PMC5834491

Abstract Article PDF–1.6M

Select item 55341183.

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

Nisha Patel, Arif O. Khan, Maher Al-Saif, Walid N. Moghrabi, Balsam M. AlMaarik, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Rana A. Alomar, Saad Al-Harbi, Mohamed Abouelhoda, Khalid S. A. Khabar, Fowzan S. Alkuraya

Genome Biol. 2017; 18: 144. Published online 2017 Jul 28. doi: 10.1186/s13059-017-1274-3

PMCID:: PMC5534118

Abstract Article PDF–2.3M

Select item 56017464.

Genomic variants link to hepatitis C racial disparities

Matthew M. Yeh, Sarag Boukhar, Benjamin Roberts, Nairanjana Dasgupta, Sayed S. Daoud

Oncotarget. 2017 Aug 29; 8(35): 59455–59475. Published online 2017 Aug 1. doi: 10.18632/oncotarget.19755

PMCID:: PMC5601746

Abstract Article PDF–6.3M

Select item 52978705.

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 50214926.

Comparison of Stemness and Gene Expression between Gingiva and Dental Follicles in Children

Chung-Min Kang, Seong-Oh Kim, Mijeong Jeon, Hyung-Jun Choi, Han-Sung Jung, Jae-Ho Lee

Stem Cells Int. 2016; 2016: 8596520. Published online 2016 Aug 30. doi: 10.1155/2016/8596520

PMCID:: PMC5021492

Abstract Article PDF–3.4M

Select item 44275997.

Electrospun nanofibrous SF/P(LLA-CL) membrane: a potential substratum for endothelial keratoplasty

Junzhao Chen, Chenxi Yan, Mengyu Zhu, Qinke Yao, Chunyi Shao, Wenjuan Lu, Jing Wang, Xiumei Mo, Ping Gu, Yao Fu, Xianqun Fan

Int J Nanomedicine. 2015; 10: 3337–3350. Published online 2015 May 5. doi: 10.2147/IJN.S77706

PMCID:: PMC4427599

Abstract Article PDF–6.9M

Select item 38716838.

Comparative Gene-Expression Analysis of the Dental Follicle and Periodontal Ligament in Humans

Hyo-Seol Lee, Jongeun Lee, Seong-Oh Kim, Je-Seon Song, Jae-Ho Lee, Syng-Ill Lee, Han-Sung Jung, Byung-Jai Choi

PLoS One. 2013; 8(12): e84201. Published online 2013 Dec 23. doi: 10.1371/journal.pone.0084201

PMCID:: PMC3871683

Abstract Article PDF–680K

Select item 36865789.

Exploring the transcription factor activity in high-throughput gene expression data using RLQ analysis

Florent Baty, Jochen Rüdiger, Nicola Miglino, Lukas Kern, Peter Borger, Martin Brutsche

BMC Bioinformatics. 2013; 14: 178. Published online 2013 Jun 6. doi: 10.1186/1471-2105-14-178

PMCID:: PMC3686578

Abstract Article PDF–1013K

Select item 279689310.

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology

Stuart J. Rabin, Jae Mun ‘Hugo’ Kim, Michael Baughn, Ryan T. Libby, Young Joo Kim, Yuxin Fan, Randell T. Libby, Albert La Spada, Brad Stone, John Ravits

Hum Mol Genet. 2010 Jan 15; 19(2): 313–328. Published online 2009 Nov 13. doi: 10.1093/hmg/ddp498