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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 102760716.

Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study

Chenxi Qin, Lina-Marcela Diaz-Gallo, Bowen Tang, Yunzhang Wang, Thuy-Dung Nguyen, Arvid Harder, Yi Lu, Leonid Padyukov, Johan Askling, Sara Hägg

Eur J Epidemiol. 2023; 38(7): 809–819. Published online 2023 Apr 13. doi: 10.1007/s10654-023-01000-9

PMCID:: PMC10276071

Abstract Article PDF–1.0M

Select item 99515797.

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 96786388.

Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population

Nam Quang Tran, Steven D. Truong, Phat Tung Ma, Chi Khanh Hoang, Bao Hoang Le, Thang Tat Ngo Dinh, Luong Van Tran, Thang Viet Tran, Linh Hoang Gia Le, Khuong Thai Le, Hien Thanh Nguyen, Hoang Anh Vu, Thao Phuong Mai, Minh Duc Do

Medicine (Baltimore) 2022 Nov 18; 101(46): e31653. Published online 2022 Nov 18. doi: 10.1097/MD.0000000000031653

PMCID:: PMC9678638

Abstract Article PDF–519K

Select item 93395019.

Localized Islet Nuclear Enlargement Hyperinsulinism (LINE-HI) due to ABCC8 and GCK Mosaic Mutations

Kara E. Boodhansingh, Zhongying Yang, Changhong Li, Pan Chen, Katherine Lord, Susan A. Becker, Lisa J. States, N. Scott Adzick, Tricia Bhatti, Show-Ling Shyng, Arupa Ganguly, Charles A. Stanley, Diva D. De Leon

Eur J Endocrinol. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Eur J Endocrinol. 2022 Aug 1; 187(2): 301–313. Published online 2022 Jun 27. doi: 10.1530/EJE-21-1095

PMCID:: PMC9339501

Abstract Article PDF–792K

Select item 917062310.

Variants in genes encoding the SUR1-TRPM4 non-selective cation channel and sudden infant death syndrome (SIDS): potentially increased risk for cerebral edema

Dong Qu, Peter Schürmann, Thomas Rothämel, Thilo Dörk, Michael Klintschar

Int J Legal Med. 2022; 136(4): 1113–1120. Published online 2022 Apr 26. doi: 10.1007/s00414-022-02819-9

PMCID:: PMC9170623

Abstract Article PDF–853K

Select item 888084911.

Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations

Esra Arslan Ateş, Özlem Üstay, Hamza Polat, Tuğçe Apaydın, Onur Elbasan, Özlem Yıldırım, Ahmet İlter Güney

Balkan Med J. 2021 Sep; 38(5): 272–277. Published online 2021 Sep 1. doi: 10.5152/balkanmedj.2021.20155

PMCID:: PMC8880849

Abstract Article PDF–583K

Select item 873402712.

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 845893113.

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K_ATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital

Can Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, Sian Ellard, Jayne A. L. Houghton, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Vu Chi Dung

Front Endocrinol (Lausanne) 2021; 12: 727083. Published online 2021 Sep 9. doi: 10.3389/fendo.2021.727083

PMCID:: PMC8458931

Abstract Article PDF–780K

Select item 831414114.

Genetic Variants Associated With Intraparenchymal Hemorrhage Progression After Traumatic Brain Injury

Ruchira M. Jha, Benjamin E. Zusman, Ava M. Puccio, David O. Okonkwo, Matthew Pease, Shashvat M. Desai, Matthew Leach, Yvette P. Conley, Patrick M. Kochanek

JAMA Netw Open. 2021 Jul; 4(7): e2116839. Published online 2021 Jul 26. doi: 10.1001/jamanetworkopen.2021.16839

PMCID:: PMC8314141

Abstract Article

Select item 816503015.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 804997416.

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 761197717.

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

Thomas I. Hewat, Daphne Yau, Joseph C. S. Jerome, Thomas W. Laver, Jayne A. L. Houghton, Beverley M. Shields, Sarah E. Flanagan, Kashyap A. Patel

Eur J Endocrinol. Author manuscript; available in PMC 2021 Nov 11.

Published in final edited form as: Eur J Endocrinol. 2021 Oct 30; 185(6): 813–818. Published online 2021 Oct 30. doi: 10.1530/EJE-21-0476

PMCID:: PMC7611977

Abstract Article PDF–523K

Select item 761184918.

Prevalence of Permanent Neonatal Diabetes in Slovakia and Successful Replacement of Insulin with Sulfonylurea Therapy in KCNJ11 and ABCC8 Mutation Carriers

Juraj Stanik, Daniela Gasperikova, Magdalena Paskova, Lubomir Barak, Jana Javorkova, Emilia Jancova, Miriam Ciljakova, Peter Hlava, Jozef Michalek, Sarah E. Flanagan, Ewan Pearson, Andrew T. Hattersley, Sian Ellard, Iwar Klimes

J Clin Endocrinol Metab. Author manuscript; available in PMC 2021 Oct 19.

Published in final edited form as: J Clin Endocrinol Metab. 2007 Apr 1; 92(4): 1276–82. Published online 2007 Jan 9. doi: 10.1210/jc.2006-2490

PMCID:: PMC7611849

Abstract Article PDF–933K

Select item 761181119.

Mutations in K_ATP Channel Genes cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Sarah E. Flanagan, Ann-Marie Patch, Deborah J.G. Mackay, Emma L. Edghill, Anna L. Gloyn, David Robinson, Julian P.H. Shield, Karen Temple, Sian Ellard, Professor Andrew T. Hattersley

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

Published in final edited form as: Diabetes. 2007 Jul 1; 56(7): 1930–7. Published online 2007 Apr 19. doi: 10.2337/db07-0043

PMCID:: PMC7611811

Abstract Article PDF–746K

Select item 761180720.

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

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