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Select item 111221151.

Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability

Lăcrămioara Ionela Butnariu, Delia Andreia Bizim, Gabriela Păduraru, Luminița Păduraru, Ștefana Maria Moisă, Setalia Popa, Nicoleta Gimiga, Gabriela Ghiga, Minerva Codruța Bădescu, Ancuta Lupu, Ioana Vasiliu, Laura Mihaela Trandafir

Int J Mol Sci. 2024 May; 25(10): 5533. Published online 2024 May 19. doi: 10.3390/ijms25105533

PMCID:: PMC11122115

Abstract Article PDF–1.0M

Select item 111146972.

An abundant, truncated human sulfonylurea receptor 1 splice variant has prodiabetic properties and impairs sulfonylurea action

Diethart Schmid, Michael Stolzlechner, Albin Sorgner, Caterina Bentele, Alice Assinger, Peter Chiba, Thomas Moeslinger

Cell Mol Life Sci. 2012 Jan; 69(1): 129–148. Published online 2011 Jun 14. doi: 10.1007/s00018-011-0739-x

PMCID:: PMC11114697

Abstract Article PDF–984K

Select item 109502833.

Dynamic duo: Kir6 and SUR in K_ATP channel structure and function

Bruce L. Patton, Phillip Zhu, Assmaa ElSheikh, Camden M. Driggers, Show-Ling Shyng

Channels (Austin) 2024; 18(1): 2327708. Published online 2024 Mar 15. doi: 10.1080/19336950.2024.2327708

PMCID:: PMC10950283

Abstract Article PDF–4.7M

Select item 107854954.

Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia

Guoying Chang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Ruen Yao, Yu Ding, Juan Li, Xiaodong Huang, Yongnian Shen, Tingting Yu, Jian Wang, Xiumin Wang

BMC Endocr Disord. 2024; 24: 8. Published online 2024 Jan 12. doi: 10.1186/s12902-023-01527-8

PMCID:: PMC10785495

Abstract Article PDF–1.0M

Select item 107292585.

Effects of the ABCC8 R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy

Elsa Vazquez Arreola, William C Knowler, Leslie J Baier, Robert L Hanson

BMJ Open Diabetes Res Care. 2023; 11(6): e003700. Published online 2023 Dec 12. doi: 10.1136/bmjdrc-2023-003700

PMCID:: PMC10729258

Abstract Article PDF–720K

Select item 99515796.

Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes

Tohru Yorifuji, Yoh Watanabe, Kana Kitayama, Yuki Yamada, Shinji Higuchi, Jun Mori, Masaru Kato, Toru Takahashi, Tokuko Okuda, Takane Aoyama

J Diabetes Investig. 2023 Mar; 14(3): 387–403. Published online 2022 Dec 12. doi: 10.1111/jdi.13957

PMCID:: PMC9951579

Abstract Article PDF–596K

Select item 87340277.

Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young

Chaoyan Tang, Liheng Meng, Ping Zhang, Xinghuan Liang, Chaozhi Dang, Hui Liang, Junfeng Wu, Haiyun Lan, Yingfen Qin

Front Endocrinol (Lausanne) 2021; 12: 758723. Published online 2021 Dec 23. doi: 10.3389/fendo.2021.758723

PMCID:: PMC8734027

Abstract Article PDF–1.9M

Select item 80499748.

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

Cécile Saint-Martin, Marine Cauchois-Le Mière, Emily Rex, Omar Soukarieh, Jean-Baptiste Arnoux, Julien Buratti, Delphine Bouvet, Thierry Frébourg, Pascaline Gaildrat, Show-Ling Shyng, Christine Bellanné-Chantelot, Alexandra Martins

Hum Mutat. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Hum Mutat. 2021 Jan 7 : 10.1002/humu.24164. Published online 2021 Jan 7. doi: 10.1002/humu.24164

PMCID:: PMC8049974

Abstract Article PDF–1.3M

Select item 76118079.

Effective treatment with oral sulfonylureas in patients with diabetes due to SUR1 Mutations

Meena Rafiq, Sarah E. Flanagan, Ann-Marie Patch, Beverley M. Shields, Neonatal Diabetes International Collaborative Group, Sian Ellard, Andrew T. Hattersley

Diabetes Care. Author manuscript; available in PMC 2021 Oct 12.

Published in final edited form as: Diabetes Care. 2008 Feb 1; 31(2): 204–9. Published online 2007 Nov 19. doi: 10.2337/dc07-1785

PMCID:: PMC7611807

Abstract Article PDF–362K

Select item 761180310.

Mutations in the ABCC8 gene encoding the SUR1 subunit of the K_ATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

A.M. Patch, S.E. Flanagan, C. Boustred, A.T. Hattersley, S. Ellard

Diabetes Obes Metab. Author manuscript; available in PMC 2021 Oct 13.

Published in final edited form as: Diabetes Obes Metab. 2007 Nov 1; 9 Suppl 2(Suppl 2): 28–39. doi: 10.1111/j.1463-1326.2007.00772.x

PMCID:: PMC7611803

Abstract Article PDF–1.2M

Select item 751634111.

Leweihua Lin, Huibiao Quan, Kaining Chen, Daoxiong Chen, Danhong Lin, Tuanyu Fang

Front Endocrinol (Lausanne) 2020; 11: 645. Published online 2020 Sep 11. doi: 10.3389/fendo.2020.00645

PMCID:: PMC7516341

Abstract Article PDF–1.0M

Select item 749222412.

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

Mauro Lago-Docampo, Jair Tenorio, Ignacio Hernández-González, Carmen Pérez-Olivares, Pilar Escribano-Subías, Guillermo Pousada, Adolfo Baloira, Miguel Arenas, Pablo Lapunzina, Diana Valverde

Sci Rep. 2020; 10: 15135. Published online 2020 Sep 15. doi: 10.1038/s41598-020-72089-1

PMCID:: PMC7492224

Abstract Article PDF–3.5M

Select item 739176813.

ABCC8 mRNA expression is an independent prognostic factor for glioma and can predict chemosensitivity

Kaijia Zhou, Yanwei Liu, Zheng Zhao, Yinyuan Wang, Lijie Huang, Ruichao Chai, Guanzhang Li, Tao Jiang

Sci Rep. 2020; 10: 12682. Published online 2020 Jul 29. doi: 10.1038/s41598-020-69676-7

PMCID:: PMC7391768

Abstract Article PDF–1.6M

Select item 707808714.

Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing

Norihiko Matsutani, Hiroto Furuta, Shohei Matsuno, Yoshimasa Oku, Shuhei Morita, Shinsuke Uraki, Asako Doi, Machi Furuta, Hiroshi Iwakura, Hiroyuki Ariyasu, Masahiro Nishi, Takashi Akamizu

J Diabetes Investig. 2020 Mar; 11(2): 333–336. Published online 2019 Sep 19. doi: 10.1111/jdi.13138

PMCID:: PMC7078087

Abstract Article PDF–226K

Select item 640058415.

Activation mechanism of ATP-sensitive K⁺ channels explored with real-time nucleotide binding

Michael Puljung, Natascia Vedovato, Samuel Usher, Frances Ashcroft

eLife. 2019; 8: e41103. Published online 2019 Feb 21. doi: 10.7554/eLife.41103

PMCID:: PMC6400584

Abstract Article PDF–3.8M

Select item 620687716.

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 618178517.

Regionally clustered ABCC8 polymorphisms in a prospective cohort predict cerebral edema and outcome in severe traumatic brain injury

Ruchira M. Jha, Theresa A. Koleck, Ava M. Puccio, David O. Okonkwo, Seo-Young Park, Benjamin E. Zusman, Robert S.B. Clark, Lori A. Shutter, Jessica S. Wallisch, Philip E. Empey, Patrick M. Kochanek, Yvette P. Conley

J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2018 Nov; 89(11): 1152–1162. Published online 2018 Apr 19. doi: 10.1136/jnnp-2017-317741

PMCID:: PMC6181785

Abstract Article PDF–1.6M

Select item 594880618.

Possible association between ABCC8 C49620T polymorphism and type 2 diabetes in a Nigerian population

Godwill Azeh Engwa, Friday Nweke Nwalo, Claribel Chidimma Chikezie, Christie Oby Onyia, Opeolu Oyejide Ojo, Wilfred Fon Mbacham, Benjamin Ewa Ubi

BMC Med Genet. 2018; 19: 78. Published online 2018 May 12. doi: 10.1186/s12881-018-0601-1

PMCID:: PMC5948806

Abstract Article PDF–626K

Select item 559680819.

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

Sarah E. Flanagan, Vũ Chí Dũng, Jayne A. L. Houghton, Elisa De Franco, Can Thi Bich Ngoc, Annet Damhuis, Frances M. Ashcroft, Lorna W. Harries, Sian Ellard

J Clin Res Pediatr Endocrinol. 2017 Sep; 9(3): 260–264. Published online 2017 Sep 1. doi: 10.4274/jcrpe.4624

PMCID:: PMC5596808

Abstract Article PDF–376K

Select item 555083320.

ABCC8 Single Nucleotide Polymorphisms are associated with Cerebral Edema in Severe TBI

Ruchira M. Jha, Ava Puccio, David O. Okonkwo, Benjamin E. Zusman, Seo-Young Park, Jessica Wallisch, Philip E. Empey, Lori A. Shutter, Robert S.B. Clark, Patrick M. Kochanek, Yvette P. Conley

Neurocrit Care. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Neurocrit Care. 2017 Apr; 26(2): 213–224. doi: 10.1007/s12028-016-0309-z

PMCID:: PMC5550833

Abstract Article PDF–572K

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