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Items: 1 to 20 of 122

1.
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
AbstractArticlePDF–1.0M
2.
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
AbstractArticlePDF–984K
3.
Dynamic duo: Kir6 and SUR in KATP 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
AbstractArticlePDF–4.7M
4.
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
AbstractArticlePDF–1.0M
5.
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
AbstractArticlePDF–720K
6.
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
AbstractArticlePDF–1.0M
7.
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
AbstractArticlePDF–596K
8.
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
AbstractArticlePDF–519K
9.
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
AbstractArticlePDF–792K
10.
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
AbstractArticlePDF–853K
11.
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
AbstractArticlePDF–583K
12.
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
AbstractArticlePDF–1.9M
13.
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-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
AbstractArticlePDF–780K
14.
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
AbstractArticle
15.
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
AbstractArticlePDF–2.2M
16.
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
AbstractArticlePDF–1.3M
17.
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
AbstractArticlePDF–523K
18.
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
AbstractArticlePDF–933K
19.
Mutations in KATP 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
AbstractArticlePDF–746K
20.
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
AbstractArticlePDF–362K

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