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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

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

Published: 01 June 2022

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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

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

Published: 01 June 2022

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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

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

Published: 01 June 2022

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Meeting Abstracts

317-OR: The Novel Glucokinase GCK (Q26L) Gene Mutation Site Causes Diabetes

SHUHUI JI, HUA SHU, WENLI FENG, JINYANG ZHEN, JINGTING QIAO, YADI HUANG, SHANSHAN CHEN, MING LIU

Diabetes 2022;71(Supplement_1):317-OR

DOI: https://doi.org/10.2337/db22-317-OR

Published: 01 June 2022

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Meeting Abstracts

206-OR: Insulin Gene Mutation in Family with Monogenic Diabetes Leads to Smaller Pancreas

JORDAN J. WRIGHT, JONATHAN M. WILLIAMS, SIRI ATMA W. GREELEY, ALVIN C. POWERS, JOHN VIROSTKO, DANIEL J. MOORE

Diabetes 2022;71(Supplement_1):206-OR

DOI: https://doi.org/10.2337/db22-206-OR

Published: 01 June 2022

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Meeting Abstracts

301-OR: Modeling the Type 2 Diabetes–Associated ABCC8 Arg1420 His Mutation using iPSC–Derived Pancreatic Islet-Like Cells

ANUP K. NAIR, MICHAEL TRAURIG, JEFF SUTHERLAND, ROBERT G. NELSON, CLIFTON BOGARDUS, III, LESLIE BAIER

Diabetes 2022;71(Supplement_1):301-OR

DOI: https://doi.org/10.2337/db22-301-OR

Published: 01 June 2022

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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

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

Published: 01 June 2022

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Journal Articles

When Adipose Tissue Lets You Down: Understanding the Functions of Genes Disrupted in Lipodystrophy

Justin J. Rochford

Diabetes 2022;71(4):589–598

DOI: https://doi.org/10.2337/dbi21-0006

Published: 22 March 2022

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Journal Articles

Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan

Sadia Saeed, Qasim M. Janjua, Attiya Haseeb, Roohia Khanam, Emmanuelle Durand, Emmanuel Vaillant, Lijiao Ning, Alaa Badreddine, Lionel Berberian, Mathilde Boissel, Souhila Amanzougarene, Mickaël Canouil, Mehdi Derhourhi, Amélie Bonnefond, Muhammad Arslan, Philippe Froguel

Diabetes 2022;71(4):694–705

DOI: https://doi.org/10.2337/db21-0373

Published: 21 January 2022

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Journal Articles

Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells

Manuel Carrasco, Chencheng Wang, Anne M. Søviknes, Yngvild Bjørlykke, Shadab Abadpour, Joao A. Paulo, Erling Tjora, Pål Njølstad, Jonas Ghabayen, Ingrid Nermoen, Valeriya Lyssenko, Simona Chera, Luiza M. Ghila, Marc Vaudel, Hanne Scholz, Helge Ræder

Diabetes 2022;71(4):862–869

DOI: https://doi.org/10.2337/db20-1279

Published: 18 January 2022

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Journal Articles

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young

Kevin Colclough, Sian Ellard, Andrew Hattersley, Kashyap Patel

Diabetes 2022;71(3):530–537

DOI: https://doi.org/10.2337/db21-0517

Published: 17 November 2021

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Journal Articles

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations

Cécile Saint-Martin, Delphine Bouvet, Mathilda Bastide, Christine Bellanné-Chantelot

Diabetes 2022;71(3):578–584

DOI: https://doi.org/10.2337/db21-0520

Published: 23 September 2021

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Journal Articles

Mutations of NRG4 Contribute to the Pathogenesis of Nonalcoholic Fatty Liver Disease and Related Metabolic Disorders

Yangyang Li, Li Jin, Feng Jiang, Jing Yan, Yan Lu, Qing Yang, Yi Zhang, Hong Zhang, Hairong Yu, Yuemei Zhang, Zhen He, Rong Zhang, Jianjun Yang, Cheng Hu

Diabetes 2021;70(10):2213–2224

DOI: https://doi.org/10.2337/db21-0064

Published: 14 July 2021

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Meeting Abstracts

198-LB: A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) Gene in a Woman with Familial Partial Lipodystrophy

PATRÍCIA V. WANDERLEY, JOAO C. DIAS, MARTA W. VIEIRA, GIANE GARCIA, ITUO T. FILHO, RAYSSA F. CHAMMA, LILIAN S. GUGONI, RAFAEL B. GIORGI, CRISTIANO R.G. BARCELLOS

Diabetes 2021;70(Supplement_1):198-LB

DOI: https://doi.org/10.2337/db21-198-LB

Published: 01 June 2021

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Meeting Abstracts

1133-P: Monogenic Diabetes in Chinese with Young-Onset Diabetes

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

Diabetes 2021;70(Supplement_1):1133-P

DOI: https://doi.org/10.2337/db21-1133-P

Published: 01 June 2021

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Meeting Abstracts

1126-P: Activating SKAP2 Mutation Linked to Diabetes with Multiple Autoimmune and Inflammatory Conditions

CHESTER CHAMBERLAIN, NIKLAS RUTSCH, WESLEY DIXON, LISA R. LETOURNEAU-FREIBERG, LOUIS H. PHILIPSON, MICHAEL GERMAN, MARK S. ANDERSON, CLIFFORD A. LOWELL

Diabetes 2021;70(Supplement_1):1126-P

DOI: https://doi.org/10.2337/db21-1126-P

Published: 01 June 2021

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Meeting Abstracts

337-OR: Intensive Insulin Treatment in a Patient with Type A Insulin Resistance Syndrome Associated with a Novel Heterozygous Mutation of Trp1120Gly in the Insulin Receptor Gene

YU YANG, ZHIMIN HUANG, GUOHONG WEI, YUELI LI, WANPING DENG, YANBING LI

Diabetes 2021;70(Supplement_1):337-OR

DOI: https://doi.org/10.2337/db21-337-OR

Published: 01 June 2021

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Journal Articles

Tissue-Specific Splicing and Dietary Interaction of a Mutant As160 Allele Determine Muscle Metabolic Fitness in Rodents

Xinyu Yang, Qiaoli Chen, Qian Ouyang, Ping Rong, Weikuan Feng, Chao Quan, Min Li, Qing Jiang, Hui Liang, Tong-Jin Zhao, Hong Yu Wang, Shuai Chen

Diabetes 2021;70(8):1826–1842

DOI: https://doi.org/10.2337/db21-0039

Published: 12 May 2021

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Journal Articles

The SNAG Domain of Insm1 Regulates Pancreatic Endocrine Cell Differentiation and Represses β- to δ-Cell Transdifferentiation

Xuehua Liang, Hualin Duan, Yahui Mao, Ulrich Koestner, Yiqiu Wei, Feng Deng, Jingshen Zhuang, Huimin Li, Cunchuan Wang, Luis R. Hernandez-Miranda, Weihua Tao, Shiqi Jia

Diabetes 2021;70(5):1084–1097

DOI: https://doi.org/10.2337/db20-0883

Published: 05 February 2021

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Journal Articles

“Treasure Your Exceptions”—Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture

Stephen O’Rahilly

Diabetes 2021;70(1):29–38

DOI: https://doi.org/10.2337/dbi19-0037

Published: 15 December 2020

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2 3 4 5

NARROW

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

317-OR: The Novel Glucokinase GCK (Q26L) Gene Mutation Site Causes Diabetes

206-OR: Insulin Gene Mutation in Family with Monogenic Diabetes Leads to Smaller Pancreas

301-OR: Modeling the Type 2 Diabetes–Associated ABCC8 Arg1420 His Mutation using iPSC–Derived Pancreatic Islet-Like Cells

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

When Adipose Tissue Lets You Down: Understanding the Functions of Genes Disrupted in Lipodystrophy

Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan

Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations

Mutations of NRG4 Contribute to the Pathogenesis of Nonalcoholic Fatty Liver Disease and Related Metabolic Disorders

198-LB: A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) Gene in a Woman with Familial Partial Lipodystrophy

1133-P: Monogenic Diabetes in Chinese with Young-Onset Diabetes

1126-P: Activating SKAP2 Mutation Linked to Diabetes with Multiple Autoimmune and Inflammatory Conditions

337-OR: Intensive Insulin Treatment in a Patient with Type A Insulin Resistance Syndrome Associated with a Novel Heterozygous Mutation of Trp1120Gly in the Insulin Receptor Gene

Tissue-Specific Splicing and Dietary Interaction of a Mutant As160 Allele Determine Muscle Metabolic Fitness in Rodents

The SNAG Domain of Insm1 Regulates Pancreatic Endocrine Cell Differentiation and Represses β- to δ-Cell Transdifferentiation

“Treasure Your Exceptions”—Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture

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