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Journal Articles

Phenotypic characterization of congenital hyperinsulinism due to novel activating glucokinase mutations

Changhong Li, Christine A. Juliana, Yue Yuan, Ming Li, Ming Lu, Pan Chen, Kara E. Boodhansingh, Nicolai M. Doliba, Tricia R. Bhatti, N. Scott Adzick, Charles A. Stanley, Diva D. De León

Diabetes db230465

https://doi.org/10.2337/db23-0465

Published: 19 September 2023

View article titled, Phenotypic characterization of congenital hyperinsulinism due to novel activating glucokinase mutations

Journal Articles

Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1α

Yuan Chu, Long Zhao, Xian Liu, Hui Chen, Chen Zhao, Sicong Chen, Shensi Xiang, Jun Lu, Xiaofang Wang, Yue Wan, Diandian Dong, Songhui Yao, Changyan Li, Ronghua Yin, Guangming Ren, Xiaoming Yang, Miao Yu

Diabetes 2023;72(10):1502–1516

https://doi.org/10.2337/db22-0672

Published: 13 July 2023

View article titled, Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1α

Meeting Abstracts

286-OR: Using iPSC-Derived Islets to Model the Effect of an ABCC8 Arg1420His Mutation in Fetal and Adult Islets

ANUP K. NAIR, KATIYA BARKHO, MICHAEL TRAURIG, ROBERT G. NELSON, CLIFTON BOGARDUS, III, LESLIE BAIER

Diabetes 2023;72(Supplement_1):286-OR

https://doi.org/10.2337/db23-286-OR

Published: 20 June 2023

View article titled, 286-OR: Using iPSC-Derived Islets to Model the Effect of an ABCC8 Arg1420His Mutation in Fetal and Adult Islets

Meeting Abstracts

1581-P: Systemic Alteration of Amino Acids Metabolism in Glutamate Dehydrogenase Gain-of-Function Mutation Knockin Mice

CHANG SU, DONGNA HAN, SHI MENG, QIUSHA ZHU, XUE ZHOU, HAOWEN JIANG, JIA LI, CHUNXIU GONG, CHANGHONG LI

Diabetes 2023;72(Supplement_1):1581-P

https://doi.org/10.2337/db23-1581-P

Published: 20 June 2023

View article titled, 1581-P: Systemic Alteration of Amino Acids Metabolism in Glutamate Dehydrogenase Gain-of-Function Mutation Knockin Mice

Meeting Abstracts

291-LB: Possible Alpha-Cell Regeneration from Mucin-Producing Ducts in Zinc-Binding Site-Mutated CRY1-Expressing Diabetic Mice

SATOSHI OKANO, AKIRA YASUI, SHIN-ICHIRO KANNO, YU SASAKI, KENNICHI SATOH, MASAHIKO IGARASHI, OSAMU NAKAJIMA

Diabetes 2023;72(Supplement_1):291-LB

https://doi.org/10.2337/db23-291-LB

Published: 20 June 2023

View article titled, 291-LB: Possible Alpha-Cell Regeneration from Mucin-Producing Ducts in Zinc-Binding Site-Mutated CRY1-Expressing Diabetic Mice

Meeting Abstracts

503-P: Distinct Effects of a Novel GCK-MODY Mutation on Lipid Profiles and Diabetic Complications

YADI HUANG, YUXIN FAN, XIN LI, SHUHUI JI, SHANSHAN CHEN, JINGQIU CUI, WENLI FENG, HUA SHU, MING LIU

Diabetes 2023;72(Supplement_1):503-P

https://doi.org/10.2337/db23-503-P

Published: 20 June 2023

View article titled, 503-P: Distinct Effects of a Novel GCK-MODY Mutation on Lipid Profiles and Diabetic Complications

Meeting Abstracts

221-OR: Retrospective Review of Genetic Mutations and Treatments in Patients with Monogenic Diabetes of the Youth (MODY)

LILY DENG, AMY S. SHAH, MANSA KRISHNAMURTHY

Diabetes 2023;72(Supplement_1):221-OR

https://doi.org/10.2337/db23-221-OR

Published: 20 June 2023

View article titled, 221-OR: Retrospective Review of Genetic Mutations and Treatments in Patients with Monogenic Diabetes of the Youth (MODY)

Meeting Abstracts

1596-P: Homozygous Mutations in MFN2 Aggravated Fat Deposition in Mouse Hepatocytes

YUE YU, YINGYING LUO, XIANGHAI ZHOU, LINONG JI

Diabetes 2023;72(Supplement_1):1596-P

https://doi.org/10.2337/db23-1596-P

Published: 20 June 2023

View article titled, 1596-P: Homozygous Mutations in MFN2 Aggravated Fat Deposition in Mouse Hepatocytes

Meeting Abstracts

1475-P: Novel Mutations in the Wolframin Gene with Diabetes—A Case Series of a Potential Addition to the Monogenic Diabetes Profile

ZACHARY YIN, ABDULLAH A. NOOR, KARINA G. ROMO, SNEHA BHAMRE, MARY GABRIEL, TANAYA PULISETTY, SHARON SHU, GABRIEL I. UWAIFO

Diabetes 2023;72(Supplement_1):1475-P

https://doi.org/10.2337/db23-1475-P

Published: 20 June 2023

View article titled, 1475-P: Novel Mutations in the Wolframin Gene with Diabetes—A Case Series of a Potential Addition to the Monogenic Diabetes Profile

Meeting Abstracts

284-OR: An Alternative Downstream Translational Start Site in PPARG Produces a Novel Protein That Rescues Loss-of-Function Mutations in Humans

KAREN MENDEZ LARA, XIAOMI DU, KIMBERLY GLASS, RUBEN HERNANDEZ, CAMILA DE ARRUDA SALDANHA, SVEN HEINZ, AMIT R. MAJITHIA

Diabetes 2023;72(Supplement_1):284-OR

https://doi.org/10.2337/db23-284-OR

Published: 20 June 2023

View article titled, 284-OR: An Alternative Downstream Translational Start Site in PPARG Produces a Novel Protein That Rescues Loss-of-Function Mutations in Humans

Meeting Abstracts

1550-P: A Gain-of-Function Maturity-Onset Diabetes of the Young (MODY)–Associated TALK1 Mutation Impairs Glucose Metabolism in Mice

WEN-HAO TSAI, SHI-BING YANG

Diabetes 2023;72(Supplement_1):1550-P

https://doi.org/10.2337/db23-1550-P

Published: 20 June 2023

View article titled, 1550-P: A Gain-of-Function Maturity-Onset Diabetes of the Young (MODY)–Associated TALK1 Mutation Impairs Glucose Metabolism in Mice

Meeting Abstracts

352-OR: Regulation of Melanocortin Receptor 4 (MC4R) Ciliary Trafficking

MAXENCE NACHURY

Diabetes 2023;72(Supplement_1):352-OR

https://doi.org/10.2337/db23-352-OR

Published: 20 June 2023

View article titled, 352-OR: Regulation of Melanocortin Receptor 4 (MC4R) Ciliary Trafficking

Journal Articles

K_ATP Channels and the Metabolic Regulation of Insulin Secretion in Health and Disease: The 2022 Banting Medal for Scientific Achievement Award Lecture

Frances M. Ashcroft

Diabetes 2023;72(6):693–702

https://doi.org/10.2337/dbi22-0030

Published: 19 May 2023

View article titled, KATP Channels and the Metabolic Regulation of Insulin Secretion in Health and Disease: The 2022 Banting Medal for Scientific Achievement Award Lecture

Journal Articles

Biallelic Mutations in P4HTM Cause Syndromic Obesity

Diabetes 2023;72(9):1228–1234

https://doi.org/10.2337/db22-1017

Published: 21 April 2023

View article titled, Biallelic Mutations in P4HTM Cause Syndromic Obesity

Journal Articles

Response to Comment on Carrasco et al. Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. Diabetes 2022;71:862–869

Hanne Scholz, Helge Ræder

Diabetes 2023;72(5):e3–e4

https://doi.org/10.2337/dbi23-0007

Published: 20 April 2023

View article titled, Response to Comment on Carrasco et al. Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. Diabetes 2022;71:862–869

Journal Articles

Comment on Carrasco et al. Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. Diabetes 2022;71:862–869

Bushra Memon, Essam M. Abdelalim

Diabetes 2023;72(5):e1–e2

https://doi.org/10.2337/db22-1011

Published: 20 April 2023

View article titled, Comment on Carrasco et al. Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. Diabetes 2022;71:862–869

Meeting Abstracts

1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population

SANDRA TSOI, CADMON K. LIM, RONALD C. MA, ERIC S. LAU, BAOQI FAN, ELAINE CHOW, ALICE P. KONG, JULIANA C. CHAN, ANDREA LUK

Diabetes 2022;71(Supplement_1):1274-P

https://doi.org/10.2337/db22-1274-P

Published: 01 June 2022

View article titled, 1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population

Meeting Abstracts

299-OR: Molecular and Physiological Consequences of the Diabetes-Related PGC1A Gly482Ser Polymorphism

MARIA GALIPEAU, NATHALIE JOUVET, EMILIE COURTY, ROXANNE VANDENBEEK, NAVEEN P. KHAN, KHALIL BOUYAKDAN, CUILAN NIAN, CATERINA IORIO, DANIEL D. SCOTT, MAY FARAJ, MARLENE OEFFINGER, FRANCIS C. LYNN, ROBERT A. SCREATON, THIERRY ALQUIER, JENNIFER L. ESTALL

Diabetes 2022;71(Supplement_1):299-OR

https://doi.org/10.2337/db22-299-OR

Published: 01 June 2022

View article titled, 299-OR: Molecular and Physiological Consequences of the Diabetes-Related PGC1A Gly482Ser Polymorphism

Meeting Abstracts

144-OR: Adipose Modeling of FGF21 Signaling Mutations in a Severe Insulin Resistance Syndrome

NHUNG PHAN, DAVID M. ORNITZ, STEPHEN I. STONE

Diabetes 2022;71(Supplement_1):144-OR

https://doi.org/10.2337/db22-144-OR

Published: 01 June 2022

View article titled, 144-OR: Adipose Modeling of FGF21 Signaling Mutations in a Severe Insulin Resistance Syndrome

Meeting Abstracts

257-LB: A Novel MODY-Associated Gain-of-Function Mutation in TALK-1 Leads to Islet Dysfunction and Glucose Intolerance

ARYA Y. NAKHE, PRASANNA DADI, KAROLINA E. ZABORSKA, DAVID JACOBSON

Diabetes 2022;71(Supplement_1):257-LB

https://doi.org/10.2337/db22-257-LB

Published: 01 June 2022

View article titled, 257-LB: A Novel MODY-Associated Gain-of-Function Mutation in TALK-1 Leads to Islet Dysfunction and Glucose Intolerance

NARROW

Phenotypic characterization of congenital hyperinsulinism due to novel activating glucokinase mutations

Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1α

286-OR: Using iPSC-Derived Islets to Model the Effect of an ABCC8 Arg1420His Mutation in Fetal and Adult Islets

1581-P: Systemic Alteration of Amino Acids Metabolism in Glutamate Dehydrogenase Gain-of-Function Mutation Knockin Mice

291-LB: Possible Alpha-Cell Regeneration from Mucin-Producing Ducts in Zinc-Binding Site-Mutated CRY1-Expressing Diabetic Mice

503-P: Distinct Effects of a Novel GCK-MODY Mutation on Lipid Profiles and Diabetic Complications

221-OR: Retrospective Review of Genetic Mutations and Treatments in Patients with Monogenic Diabetes of the Youth (MODY)

1596-P: Homozygous Mutations in MFN2 Aggravated Fat Deposition in Mouse Hepatocytes

1475-P: Novel Mutations in the Wolframin Gene with Diabetes—A Case Series of a Potential Addition to the Monogenic Diabetes Profile

284-OR: An Alternative Downstream Translational Start Site in PPARG Produces a Novel Protein That Rescues Loss-of-Function Mutations in Humans

1550-P: A Gain-of-Function Maturity-Onset Diabetes of the Young (MODY)–Associated TALK1 Mutation Impairs Glucose Metabolism in Mice

352-OR: Regulation of Melanocortin Receptor 4 (MC4R) Ciliary Trafficking

K_ATP Channels and the Metabolic Regulation of Insulin Secretion in Health and Disease: The 2022 Banting Medal for Scientific Achievement Award Lecture

Biallelic Mutations in P4HTM Cause Syndromic Obesity

Response to Comment on Carrasco et al. Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. Diabetes 2022;71:862–869

Comment on Carrasco et al. Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. Diabetes 2022;71:862–869

1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population

299-OR: Molecular and Physiological Consequences of the Diabetes-Related PGC1A Gly482Ser Polymorphism

144-OR: Adipose Modeling of FGF21 Signaling Mutations in a Severe Insulin Resistance Syndrome

257-LB: A Novel MODY-Associated Gain-of-Function Mutation in TALK-1 Leads to Islet Dysfunction and Glucose Intolerance

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