Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: INS: 287G>A; Cys96Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: INS: Cys96Tyr

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

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Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation.

Journal Of The Endocrine Society

Son, Rachel G RG; Kandasamy, Balamurugan B; Bowden, Tiana T; Azzam, Ruba K RK; Oakes, Scott A SA; Philipson, Louis H LH; Greeley, Siri Atma W SAW

Publication Date: 2023-01-06

Variant appearance in text: INS: C96Y

PubMed Link: 36655002

Variant Present in the following documents:

• Main text
• bvac182.pdf

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: INS: C96Y

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: INS: 287G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.

Frontiers In Endocrinology

Ngoc, Can Thi Bich CTB; Dung, Vu Chi VC; De Franco, Elisa E; Lan, Nguyen Ngoc NN; Thao, Bui Phuong BP; Khanh, Nguyen Ngoc NN; Flanagan, Sarah E SE; Craig, Maria E ME; Hoang, Nguyen Huy NH; Dien, Tran Minh TM

Publication Date: 2022

Variant appearance in text: INS: C96Y

PubMed Link: 35518939

Variant Present in the following documents:

• Main text
• fendo-13-866573.pdf

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Discoveries in Pancreatic Physiology and Disease Biology Using Single-Cell RNA Sequencing.

Frontiers In Cell And Developmental Biology

Fu, Haotian H; Sun, Hongwei H; Kong, Hongru H; Lou, Bin B; Chen, Hao H; Zhou, Yilin Y; Huang, Chaohao C; Qin, Lei L; Shan, Yunfeng Y; Dai, Shengjie S

Publication Date: 2021

Variant appearance in text: INS: C96Y

PubMed Link: 35141228

Variant Present in the following documents:

• Main text
• fcell-09-732776.pdf

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: INS: C96Y

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6
• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: INS: C96Y

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8
• pone.0251286.s005.xlsx, sheet 6

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A Novel Nonsense INS Mutation Causes Inefficient Preproinsulin Translocation Into the Endoplasmic Reticulum.

Frontiers In Endocrinology

Yang, Ying Y; Shu, Hua H; Hu, Jingxin J; Li, Lei L; Wang, Jianyu J; Chen, Tingting T; Zhen, Jinyang J; Sun, Jinhong J; Feng, Wenli W; Xiong, Yi Y; Huang, Yumeng Y; Li, Xin X; Zhang, Kai K; Fan, Zhenqian Z; Guo, Hui H; Liu, Ming M

Publication Date: 2021

Variant appearance in text: INS: C96Y

PubMed Link: 35069438

Variant Present in the following documents:

• Main text
• fendo-12-774634.pdf

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Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.

International Journal Of Molecular Sciences

Bartolomé, Alberto A

Publication Date: 2022-01-02

Variant appearance in text: INS: C96Y

PubMed Link: 35008927

Variant Present in the following documents:

• Main text
• ijms-23-00501.pdf

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Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.

International Journal Of Molecular Sciences

Bartolomé, Alberto A

Publication Date: 2022-01-02

Variant appearance in text: INS: C96Y

PubMed Link: 35008927

Variant Present in the following documents:

• Main text
• ijms-23-00501.pdf

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Expression of Human Mutant Preproinsulins Induced Unfolded Protein Response, Gadd45 Expression, JAK-STAT Activation, and Growth Inhibition in Drosophila.

International Journal Of Molecular Sciences

Yamazoe, Tatsuki T; Nakahara, Yasuyuki Y; Katsube, Hiroka H; Inoue, Yoshihiro H YH

Publication Date: 2021-11-07

Variant appearance in text: INS: C96Y

PubMed Link: 34769468

Variant Present in the following documents:

• Main text

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Living Dangerously: Protective and Harmful ER Stress Responses in Pancreatic β-Cells.

Diabetes

Sharma, Rohit B RB; Landa-Galván, Huguet V HV; Alonso, Laura C LC

Publication Date: 2021-11

Variant appearance in text: INS: C96Y

PubMed Link: 34711668

Variant Present in the following documents:

• Main text
• dbi200033.pdf

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Living Dangerously: Protective and Harmful ER Stress Responses in Pancreatic β-Cells.

Diabetes

Sharma, Rohit B RB; Landa-Galván, Huguet V HV; Alonso, Laura C LC

Publication Date: 2021-11

Variant appearance in text: INS: C96Y

PubMed Link: 34711668

Variant Present in the following documents:

• Main text
• dbi200033.pdf

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The Genetics of Diabetes: What We Can Learn from Drosophila.

International Journal Of Molecular Sciences

Liguori, Francesco F; Mascolo, Elisa E; Vernì, Fiammetta F

Publication Date: 2021-10-19

Variant appearance in text: INS: C96Y

PubMed Link: 34681954

Variant Present in the following documents:

• Main text

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Pharmacological Inhibition of Inositol-Requiring Enzyme 1α RNase Activity Protects Pancreatic Beta Cell and Improves Diabetic Condition in Insulin Mutation-Induced Diabetes.

Frontiers In Endocrinology

Herlea-Pana, Oana O; Eeda, Venkateswararao V; Undi, Ram Babu RB; Lim, Hui-Ying HY; Wang, Weidong W

Publication Date: 2021

Variant appearance in text: INS: C96Y

PubMed Link: 34675883

Variant Present in the following documents:

• Main text
• fendo-12-749879.pdf

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Advances in ER-Phagy and Its Diseases Relevance.

Cells

He, Lingang L; Qian, Xuehong X; Cui, Yixian Y

Publication Date: 2021-09-06

Variant appearance in text: INS: C96Y

PubMed Link: 34571977

Variant Present in the following documents:

• Main text

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In celebration of a century with insulin - Update of insulin gene mutations in diabetes.

Molecular Metabolism

Støy, Julie J; De Franco, Elisa E; Ye, Honggang H; Park, Soo-Young SY; Bell, Graeme I GI; Hattersley, Andrew T AT

Publication Date: 2021-10

Variant appearance in text: INS: C96Y

PubMed Link: 34174481

Variant Present in the following documents:

• Main text
• main.pdf

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Heparan sulfate proteoglycans in beta cells provide a critical link between endoplasmic reticulum stress, oxidative stress and type 2 diabetes.

Plos One

Dhounchak, Sarita S; Popp, Sarah K SK; Brown, Debra J DJ; Laybutt, D Ross DR; Biden, Trevor J TJ; Bornstein, Stefan R SR; Parish, Christopher R CR; Simeonovic, Charmaine J CJ

Publication Date: 2021

Variant appearance in text: INS: C96Y

PubMed Link: 34086738

Variant Present in the following documents:

• Main text

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Endocrine Pancreas Development and Dysfunction Through the Lens of Single-Cell RNA-Sequencing.

Frontiers In Cell And Developmental Biology

Szlachcic, Wojciech J WJ; Ziojla, Natalia N; Kizewska, Dorota K DK; Kempa, Marcelina M; Borowiak, Malgorzata M

Publication Date: 2021

Variant appearance in text: INS: C96Y

PubMed Link: 33996792

Variant Present in the following documents:

• Main text
• fcell-09-629212.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: INS: 287G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: INS: 287G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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The KINGS Ins2 +/G32S Mouse: A Novel Model of β-Cell Endoplasmic Reticulum Stress and Human Diabetes.

Diabetes

Austin, Amazon L F ALF; Daniels Gatward, Lydia F LF; Cnop, Miriam M; Santos, Gabriel G; Andersson, David D; Sharp, Sally S; Gentry, Clive C; Bevan, Stuart S; Jones, Peter M PM; King, Aileen J F AJF

Publication Date: 2020-12

Variant appearance in text: INS: C96Y

PubMed Link: 32994272

Variant Present in the following documents:

• db200570.pdf

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Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations.

Molecular And Cellular Endocrinology

Wang, Heting H; Saint-Martin, Cécile C; Xu, Jialu J; Ding, Li L; Wang, Ruodan R; Feng, Wenli W; Liu, Ming M; Shu, Hua H; Fan, Zhenqian Z; Haataja, Leena L; Arvan, Peter P; Bellanné-Chantelot, Christine C; Cui, Jingqiu J; Huang, Yumeng Y

Publication Date: 2020-12-01

Variant appearance in text: INS: Cys96Tyr

PubMed Link: 32916194

Variant Present in the following documents:

• Main text

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Insulin2Q104del (Kuma) mutant mice develop diabetes with dominant inheritance.

Scientific Reports

Sakano, Daisuke D; Inoue, Airi A; Enomoto, Takayuki T; Imasaka, Mai M; Okada, Seiji S; Yokota, Mutsumi M; Koike, Masato M; Araki, Kimi K; Kume, Shoen S

Publication Date: 2020-07-22

Variant appearance in text: INS: C96Y

PubMed Link: 32699230

Variant Present in the following documents:

• Main text
• 41598_2020_Article_68987.pdf

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Lessons from animal models of endocrine disorders caused by defects of protein folding in the secretory pathway.

Molecular And Cellular Endocrinology

Morishita, Yoshiaki Y; Arvan, Peter P

Publication Date: 2020-01-01

Variant appearance in text: INS: C96Y

PubMed Link: 31605742

Variant Present in the following documents:

• Main text

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Future Perspective of Diabetic Animal Models.

Endocrine, Metabolic & Immune Disorders Drug Targets

Pandey, Shashank S; Dvorakova, Magdalena C MC

Publication Date: 2020

Variant appearance in text: IDDM2: C96Y

PubMed Link: 31241444

Variant Present in the following documents:

• Main text

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Transgenic Expression of miR-133a in the Diabetic Akita Heart Prevents Cardiac Remodeling and Cardiomyopathy.

Frontiers In Cardiovascular Medicine

Kambis, Tyler N TN; Shahshahan, Hamid R HR; Kar, Sumit S; Yadav, Santosh K SK; Mishra, Paras K PK

Publication Date: 2019

Variant appearance in text: INS: C96Y

PubMed Link: 31069235

Variant Present in the following documents:

• fcvm-06-00045.pdf

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Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes.

Elife

Balboa, Diego D; Saarimäki-Vire, Jonna J; Borshagovski, Daniel D; Survila, Mantas M; Lindholm, Päivi P; Galli, Emilia E; Eurola, Solja S; Ustinov, Jarkko J; Grym, Heli H; Huopio, Hanna H; Partanen, Juha J; Wartiovaara, Kirmo K; Otonkoski, Timo T

Publication Date: 2018-11-09

Variant appearance in text: INS: C96Y

PubMed Link: 30412052

Variant Present in the following documents:

• Main text
• elife-38519.pdf

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MiR-133a Mimic Alleviates T1DM-Induced Systolic Dysfunction in Akita: An MRI-Based Study.

Frontiers In Physiology

Nandi, Shyam Sundar SS; Shahshahan, Hamid Reza HR; Shang, Quanliang Q; Kutty, Shelby S; Boska, Michael M; Mishra, Paras Kumar PK

Publication Date: 2018

Variant appearance in text: INS: C96Y

PubMed Link: 30364155

Variant Present in the following documents:

• fphys-09-01275.pdf

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Genetically engineered pigs as models for human disease.

Disease Models & Mechanisms

Perleberg, Carolin C; Kind, Alexander A; Schnieke, Angelika A

Publication Date: 2018-01-22

Variant appearance in text: INS: C96Y

PubMed Link: 29419487

Variant Present in the following documents:

• Main text

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Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.

Molecular Metabolism

Cnop, Miriam M; Toivonen, Sanna S; Igoillo-Esteve, Mariana M; Salpea, Paraskevi P

Publication Date: 2017-09

Variant appearance in text: INS: C96Y

PubMed Link: 28951826

Variant Present in the following documents:

• main.pdf

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In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin).

Diabetologia

Støy, Julie J; Olsen, Jørgen J; Park, Soo-Young SY; Gregersen, Søren S; Hjørringgaard, Claudia U CU; Bell, Graeme I GI

Publication Date: 2017-08

Variant appearance in text: INS: C96Y

PubMed Link: 28478482

Variant Present in the following documents:

• Main text

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Endoplasmic Reticulum (ER) Stress and Endocrine Disorders.

International Journal Of Molecular Sciences

Ariyasu, Daisuke D; Yoshida, Hiderou H; Hasegawa, Yukihiro Y

Publication Date: 2017-02-11

Variant appearance in text: INS: C96Y

PubMed Link: 28208663

Variant Present in the following documents:

• Main text
• ijms-18-00382.pdf

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Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Nature Communications

Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW

Publication Date: 2017-01-18

Variant appearance in text: INS: C96Y

PubMed Link: 28098136

Variant Present in the following documents:

• ncomms14121-s5.xlsx, sheet 1

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Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Endocrine Reviews

Yang, Yisheng Y; Chan, Lawrence L

Publication Date: 2016-06

Variant appearance in text: INS: C96Y

PubMed Link: 27035557

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs80356671

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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The IRE1α/XBP1s Pathway Is Essential for the Glucose Response and Protection of β Cells.

Plos Biology

Hassler, Justin R JR; Scheuner, Donalyn L DL; Wang, Shiyu S; Han, Jaeseok J; Kodali, Vamsi K VK; Li, Philip P; Nguyen, Julie J; George, Jenny S JS; Davis, Cory C; Wu, Shengyang P SP; Bai, Yongsheng Y; Sartor, Maureen M; Cavalcoli, James J; Malhi, Harmeet H; Baudouin, Gregory G; Zhang, Yaoyang Y; Yates, John R JR; Itkin-Ansari, Pamela P; Volkmann, Niels N; Kaufman, Randal J RJ

Publication Date: 2015-10

Variant appearance in text: INS: Cys96Tyr

PubMed Link: 26469762

Variant Present in the following documents:

• Main text
• pbio.1002277.pdf

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Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

Journal Of Pediatric Endocrinology & Metabolism : Jpem

Globa, Evgenia E; Zelinska, Nataliya N; Mackay, Deborah J G DJ; Temple, Karen I KI; Houghton, Jayne A L JA; Hattersley, Andrew T AT; Flanagan, Sarah E SE; Ellard, Sian S

Publication Date: 2015-11-01

Variant appearance in text: INS: 287G>A; C96Y

PubMed Link: 26208381

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: INS: C96Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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INS-gene mutations: from genetics and beta cell biology to clinical disease.

Molecular Aspects Of Medicine

Liu, Ming M; Sun, Jinhong J; Cui, Jinqiu J; Chen, Wei W; Guo, Huan H; Barbetti, Fabrizio F; Arvan, Peter P

Publication Date: 2015-04

Variant appearance in text: INS: C96Y

PubMed Link: 25542748

Variant Present in the following documents:

• Main text

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Many faces of monogenic diabetes.

Journal Of Diabetes Investigation

Schwitzgebel, Valerie M VM

Publication Date: 2014-03-23

Variant appearance in text: INS: C96Y

PubMed Link: 24843749

Variant Present in the following documents:

• Main text

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Insulin gene mutations and diabetes.

Journal Of Diabetes Investigation

Nishi, Masahiro M; Nanjo, Kishio K

Publication Date: 2011-04-07

Variant appearance in text: INS: C96Y

PubMed Link: 24843467

Variant Present in the following documents:

• Main text

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Beneficial effect of insulin treatment on islet transplantation outcomes in Akita mice.

Plos One

Kikawa, Kazuhide K; Sakano, Daisuke D; Shiraki, Nobuaki N; Tsuyama, Tomonori T; Kume, Kazuhiko K; Endo, Fumio F; Kume, Shoen S

Publication Date: 2014

Variant appearance in text: INS: Cys96Tyr

PubMed Link: 24743240

Variant Present in the following documents:

• Main text
• pone.0095451.pdf

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A self-defeating anabolic program leads to β-cell apoptosis in endoplasmic reticulum stress-induced diabetes via regulation of amino acid flux.

The Journal Of Biological Chemistry

Krokowski, Dawid D; Han, Jaeseok J; Saikia, Mridusmita M; Majumder, Mithu M; Yuan, Celvie L CL; Guan, Bo-Jhih BJ; Bevilacqua, Elena E; Bussolati, Ovidio O; Bröer, Stefan S; Arvan, Peter P; Tchórzewski, Marek M; Snider, Martin D MD; Puchowicz, Michelle M; Croniger, Colleen M CM; Kimball, Scot R SR; Pan, Tao T; Koromilas, Antonis E AE; Kaufman, Randal J RJ; Hatzoglou, Maria M

Publication Date: 2013-06-14

Variant appearance in text: INS: C96Y

PubMed Link: 23645676

Variant Present in the following documents:

• Main text

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Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: INS: C96Y

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

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Permanent neonatal diabetes in INS(C94Y) transgenic pigs.

Diabetes

Renner, Simone S; Braun-Reichhart, Christina C; Blutke, Andreas A; Herbach, Nadja N; Emrich, Daniela D; Streckel, Elisabeth E; Wünsch, Annegret A; Kessler, Barbara B; Kurome, Mayuko M; Bähr, Andrea A; Klymiuk, Nikolai N; Krebs, Stefan S; Puk, Oliver O; Nagashima, Hiroshi H; Graw, Jochen J; Blum, Helmut H; Wanke, Ruediger R; Wolf, Eckhard E

Publication Date: 2013-05

Variant appearance in text: INS: C96Y

PubMed Link: 23274907

Variant Present in the following documents:

• Main text

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Stimulation of autophagy improves endoplasmic reticulum stress-induced diabetes.

Diabetes

Bachar-Wikstrom, Etty E; Wikstrom, Jakob D JD; Ariav, Yafa Y; Tirosh, Boaz B; Kaiser, Nurit N; Cerasi, Erol E; Leibowitz, Gil G

Publication Date: 2013-04

Variant appearance in text: INS: C96Y

PubMed Link: 23274896

Variant Present in the following documents:

• Main text
• 1227.pdf

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Unravelling the story of protein misfolding in diabetes mellitus.

World Journal Of Diabetes

Thomas, Sally E SE; Dalton, Lucy L; Malzer, Elke E; Marciniak, Stefan J SJ

Publication Date: 2011-07-15

Variant appearance in text: INS: C96Y

PubMed Link: 21860696

Variant Present in the following documents:

• Main text

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Control of precursor maturation and disposal is an early regulative mechanism in the normal insulin production of pancreatic β-cells.

Plos One

Wang, Jie J; Chen, Ying Y; Yuan, Qingxin Q; Tang, Wei W; Zhang, Xiaoping X; Osei, Kwame K

Publication Date: 2011-04-29

Variant appearance in text: INS: C96Y

PubMed Link: 21559376

Variant Present in the following documents:

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Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Reviews In Endocrine & Metabolic Disorders

Støy, Julie J; Steiner, Donald F DF; Park, Soo-Young SY; Ye, Honggang H; Philipson, Louis H LH; Bell, Graeme I GI

Publication Date: 2010-09

Variant appearance in text: INS: 287G>A; C96Y

PubMed Link: 20938745

Variant Present in the following documents:

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• 11154_2010_Article_9151.pdf

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Neonatal diabetes mellitus: a model for personalized medicine.

Trends In Endocrinology And Metabolism: Tem

Greeley, Siri Atma W SA; Tucker, Susan E SE; Naylor, Rochelle N RN; Bell, Graeme I GI; Philipson, Louis H LH

Publication Date: 2010-08

Variant appearance in text: INS: C96Y

PubMed Link: 20434356

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