PMC Links for Nucleotide (Select 1758359846) - PMC

Links from Nucleotide

Items: 1 to 20 of 22

<< First< Prev

Page of 2

Select item 66475091.

Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning

Jinwen Ni, Jingjie Ge, Miaoying Zhang, Khalid Hussain, Yihui Guan, Ruoqian Cheng, Li Xi, Zhangqian Zheng, Shuhua Ren, Feihong Luo

Eur J Pediatr. 2019; 178(8): 1161–1169. Published online 2019 Jun 19. doi: 10.1007/s00431-019-03408-6

PMCID:: PMC6647509

Abstract Article PDF–2.9M

Select item 64164252.

ATP binding without hydrolysis switches sulfonylurea receptor 1 (SUR1) to outward-facing conformations that activate K_ATP channels

Jelena Sikimic, Timothy S. McMillen, Cita Bleile, Frank Dastvan, Ulrich Quast, Peter Krippeit-Drews, Gisela Drews, Joseph Bryan

J Biol Chem. 2019 Mar 8; 294(10): 3707–3719. Published online 2018 Dec 26. doi: 10.1074/jbc.RA118.005236

PMCID:: PMC6416425

Abstract Article PDF–2.0M

Select item 62068773.

Loss of Function ABCC8 Mutations in Pulmonary Arterial Hypertension

Michael S. Bohnen, Lijiang Ma, Na Zhu, Hongjian Qi, Conor McClenaghan, Claudia Gonzaga-Jauregui, Frederick E. Dewey, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Aris Baras, Kevin J. Sampson, Marta Bleda, Charaka Hadinnapola, Matthias Haimel, Harm J. Bogaard, Colin Church, Gerry Coghlan, Paul A. Corris, Mélanie Eyries, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Marc Humbert, Christophe Guignabert, David G. Kiely, Allan Lawrie, Rob V. MacKenzie Ross, Jennifer M. Martin, David Montani, Andrew J. Peacock, Joanna Pepke-Zaba, Florent Soubrier, Jay Suntharalingam, Mark Toshner, Carmen M. Treacy, Richard C. Trembath, Anton Vonk Noordegraaf, John Wharton, Martin R. Wilkins, Stephen J. Wort, Katherine Yates, Stefan Gräf, Nicholas W. Morrell, Usha Krishnan, Erika B. Rosenzweig, Yufeng Shen, Colin G. Nichols, Robert S. Kass, Wendy K. Chung

Circ Genom Precis Med. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Circ Genom Precis Med. 2018 Oct; 11(10): e002087. doi: 10.1161/CIRCGEN.118.002087

PMCID:: PMC6206877

Abstract Article PDF–897K

Select item 66835664.

Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates

Xu Liu, Mei Mei, Xiang Chen, Yulan Lu, Xinran Dong, Liyuan Hu, Xiaojing Hu, Guoqiang Cheng, Yun Cao, Lin Yang, Wenhao Zhou

Respir Res. 2019; 20: 174. Published online 2019 Aug 5. doi: 10.1186/s12931-019-1148-1

PMCID:: PMC6683566

Abstract Article PDF–819K

Select item 66515295.

ATP Binding Cassette Transporter A1 is Involved in Extracellular Secretion of Acetylated APE1/Ref-1

Yu Ran Lee, Hee Kyoung Joo, Eun Ok Lee, Hyun Sil Cho, Sunga Choi, Cuk-Seong Kim, Byeong Hwa Jeon

Int J Mol Sci. 2019 Jul; 20(13): 3178. Published online 2019 Jun 28. doi: 10.3390/ijms20133178

PMCID:: PMC6651529

Abstract Article PDF–1.6M

Select item 63187746.

High-frequency actionable pathogenic exome variants in an average-risk cohort

Shannon Rego, Orit Dagan-Rosenfeld, Wenyu Zhou, M. Reza Sailani, Patricia Limcaoco, Elizabeth Colbert, Monika Avina, Jessica Wheeler, Colleen Craig, Denis Salins, Hannes L. Röst, Jessilyn Dunn, Tracey McLaughlin, Lars M. Steinmetz, Jonathan A. Bernstein, Michael P. Snyder

Cold Spring Harb Mol Case Stud. 2018 Dec; 4(6): a003178. doi: 10.1101/mcs.a003178

PMCID:: PMC6318774

Abstract Article PDF–2.3M

Select item 62401367.

Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia

Zi-Di Xu, Wei Zhang, Min Liu, Huan-Min Wang, Pei-Pei Hui, Xue-Jun Liang, Jie Yan, Yu-Jun Wu, Yan-Mei Sang, Cheng Zhu, Gui-Chen Ni

Endocr Connect. 2018 Dec; 7(12): 1251–1261. Published online 2018 Oct 5. doi: 10.1530/EC-18-0240

PMCID:: PMC6240136

Abstract Article PDF–834K

Select item 61230508.

Glimepiride treatment in a patient with type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene

Zhimin Huang, Juan Liu, Kaka Ng, Xuesi Wan, Lijuan Xu, Xiaoying He, Zhihong Liao, Yanbing Li

J Diabetes Investig. 2018 Sep; 9(5): 1075–1083. Published online 2018 Mar 24. doi: 10.1111/jdi.12824

PMCID:: PMC6123050

Abstract Article PDF–444K

Select item 57178329.

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J. Topol, Thomas Seufferlein, Bernhard O. Boehm

BMC Med. 2017; 15: 213. Published online 2017 Dec 6. doi: 10.1186/s12916-017-0977-3

PMCID:: PMC5717832

Abstract Article PDF–799K

Select item 570422210.

Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation

Caroline Lenfant, Patrick Baz, Anne Degavre, Anne Philippi, Valérie Senée, Claire Vandiedonck, Céline Derbois, Marc Nicolino, Pierre Zalloua, Cécile Julier

Genes (Basel) 2017 Nov; 8(11): 309. Published online 2017 Nov 7. doi: 10.3390/genes8110309

PMCID:: PMC5704222

Abstract Article PDF–1.0M

Select item 559681011.

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

Monica Gabbay, Sian Ellard, Elisa De Franco, Regina S. Moisés

J Clin Res Pediatr Endocrinol. 2017 Sep; 9(3): 274–277. Published online 2017 Sep 1. doi: 10.4274/jcrpe.4494

PMCID:: PMC5596810

Abstract Article PDF–803K

Select item 401721612.

Label-free cell phenotypic profiling decodes the composition and signaling of an endogenous ATP-sensitive potassium channel

Haiyan Sun, Ying Wei, Huayun Deng, Qiaojie Xiong, Min Li, Joydeep Lahiri, Ye Fang

Sci Rep. 2014; 4: 4934. Published online 2014 May 12. doi: 10.1038/srep04934

PMCID:: PMC4017216

Abstract Article PDF–1.8M

Select item 401566313.

Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus

Tomoyuki Takagi, Hiroto Furuta, Masakazu Miyawaki, Kazuaki Nagashima, Takeshi Shimada, Asako Doi, Shohei Matsuno, Daisuke Tanaka, Masahiro Nishi, Hideyuki Sasaki, Nobuya Inagaki, Norishige Yoshikawa, Kishio Nanjo, Takashi Akamizu

J Diabetes Investig. 2013 May 6; 4(3): 269–273. Published online 2013 Mar 11. doi: 10.1111/jdi.12049

PMCID:: PMC4015663

Abstract Article PDF–193K

Select item 373616314.

Expression and Function of K(ATP) Channels in Normal and Osteoarthritic Human Chondrocytes: Possible Role in Glucose Sensing

Ana T Rufino, Susana C Rosa, Fernando Judas, Ali Mobasheri, M Celeste Lopes, Alexandrina F Mendes

J Cell Biochem. 2013 Aug; 114(8): 1879–1889. Published online 2013 Mar 13. doi: 10.1002/jcb.24532

PMCID:: PMC3736163

Abstract Article PDF–1.6M

Select item 371191015.

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battaglia

PLoS One. 2013; 8(7): e68740. Published online 2013 Jul 15. doi: 10.1371/journal.pone.0068740

PMCID:: PMC3711910

Abstract Article PDF–153K

Select item 369690416.

A Short-activating RNA Oligonucleotide Targeting the Islet β-cell Transcriptional Factor MafA in CD34⁺ Cells

Vikash Reebye, Pål Sætrom, Paul J Mintz, John J Rossi, Noriyuki Kasahara, Georgios Nteliopoulos, Joanna Nicholls, Abdelali Haoudi, Myrtle Gordon, Nagy A Habib

Mol Ther Nucleic Acids. 2013 Jun; 2(6): e97. Published online 2013 Jun 4. doi: 10.1038/mtna.2013.23

PMCID:: PMC3696904

Abstract Article PDF–1.4M

Select item 368196917.

Gliadin Fragments and a Specific Gliadin 33-mer Peptide Close K_ATP Channels and Induce Insulin Secretion in INS-1E Cells and Rat Islets of Langerhans

Morten Dall, Kirstine Calloe, Martin Haupt-Jorgensen, Jesper Larsen, Nicole Schmitt, Knud Josefsen, Karsten Buschard

PLoS One. 2013; 8(6): e66474. Published online 2013 Jun 13. doi: 10.1371/journal.pone.0066474

PMCID:: PMC3681969

Abstract Article PDF–598K

Select item 360063218.

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

Flavio Faletra, Kara Snider, Show-Ling Shyng, Irene Bruno, Emmanouil Athanasakis, Paolo Gasparini, Carlo Dionisi-Vici, Alessandro Ventura, Qing Zhou, Charles A. Stanley, Alberto Burlina

Gene. Author manuscript; available in PMC 2013 Mar 18.

Published in final edited form as: Gene. 2013 Mar 1; 516(1): 122–125. Published online 2012 Dec 22. doi: 10.1016/j.gene.2012.12.055

PMCID:: PMC3600632

Abstract Article PDF–612K

Select item 326258419.

Differential Gene Expression in Primary Breast Tumors Associated with Lymph Node Metastasis

Rachel E. Ellsworth, Lori A. Field, Brad Love, Jennifer L. Kane, Jeffrey A. Hooke, Craig D. Shriver

Int J Breast Cancer. 2011; 2011: 142763. Published online 2011 May 15. doi: 10.4061/2011/142763

PMCID:: PMC3262584

Abstract Article PDF–576K

Select item 274046020.

A Novel Mitochondrial Sphingomyelinase in Zebrafish Cells

Takeshi Yabu, Akio Shimuzu, Michiaki Yamashita

J Biol Chem. 2009 Jul 24; 284(30): 20349–20363. Published online 2009 May 8. doi: 10.1074/jbc.M109.004580

PMCID:: PMC2740460

Abstract Article PDF–3.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 22

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity