Publications:

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New Advances in Diabetes Genetics.

International Journal Of Molecular Sciences

Delvecchio, Maurizio M

Publication Date: 2023-03-15

Variant appearance in text: rs689

PubMed Link: 36982665

Variant Present in the following documents:

• Main text
• ijms-24-05591.pdf

View BVdb publication page

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FinnGen provides genetic insights from a well-phenotyped isolated population.

Nature

Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A

Publication Date: 2023-01

Variant appearance in text: rs689

PubMed Link: 36653562

Variant Present in the following documents:

• 41586_2022_5473_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Mono- and biallelic variant effects on disease at biobank scale.

Nature

Heyne, H O HO; Karjalainen, J J; Karczewski, K J KJ; Lemmelä, S M SM; Zhou, W W; , ; Havulinna, A S AS; Kurki, M M; Rehm, H L HL; Palotie, A A; Daly, M J MJ

Publication Date: 2023-01

Variant appearance in text: rs689

PubMed Link: 36653560

Variant Present in the following documents:

• 41586_2022_5420_MOESM1_ESM.pdf

View BVdb publication page

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CTLA4, SH2B3 and CLEC16A diversely affect the progression of early islet autoimmunity in relatives of type 1 diabetes patients.

Clinical And Experimental Immunology

Vandewalle, Julie J; Desouter, Aster K AK; Van der Auwera, Bart J BJ; Tenoutasse, Sylvie S; Gillard, Pieter P; De Block, Christophe C; Keymeulen, Bart B; Gorus, Frans K FK; Van de Casteele, Mark M; ,

Publication Date: 2023-01-09

Variant appearance in text: rs689

PubMed Link: 36622793

Variant Present in the following documents:

• Main text
• uxad002.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs689

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Sintilimab-Induced Diabetic Ketoacidosis in a Patient with Radiation and Multichemorefractory Penile Cancer: A Case Report and Literature Review.

Current Oncology (Toronto, Ont.)

Lv, Chuan C; Wu, Can C; Zhang, Yan Y; Li, Wendong W; Wang, Xuesong X; Liang, Li L

Publication Date: 2022-10-25

Variant appearance in text: rs689

PubMed Link: 36354692

Variant Present in the following documents:

• Main text
• curroncol-29-00632.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs689

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genetics: Is LADA just late onset type 1 diabetes?

Frontiers In Endocrinology

Hernández, M M; Nóvoa-Medina, Y Y; Faner, R R; Palou, E E; Esquerda, A A; Castelblanco, E E; Wägner, A M AM; Mauricio, D D

Publication Date: 2022

Variant appearance in text: rs689

PubMed Link: 36034444

Variant Present in the following documents:

• Main text
• fendo-13-916698.pdf

View BVdb publication page

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Non-HLA Gene Polymorphisms in the Pathogenesis of Type 1 Diabetes: Phase and Endotype Specific Effects.

Frontiers In Immunology

Laine, Antti-Pekka AP; Valta, Milla M; Toppari, Jorma J; Knip, Mikael M; Veijola, Riitta R; Ilonen, Jorma J; Lempainen, Johanna J

Publication Date: 2022

Variant appearance in text: rs689

PubMed Link: 35812428

Variant Present in the following documents:

• Main text
• fimmu-13-909020.pdf

View BVdb publication page

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Influence of Insulin Receptor Single Nucleotide Polymorphisms on Glycaemic Control and Formation of Anti-Insulin Antibodies in Diabetes Mellitus.

International Journal Of Molecular Sciences

Massarenti, Laura L; Aniol-Nielsen, Christina C; Enevold, Christian C; Toft-Hansen, Henrik H; Nielsen, Claus Henrik CH

Publication Date: 2022-06-09

Variant appearance in text: rs689

PubMed Link: 35742925

Variant Present in the following documents:

• Main text
• ijms-23-06481.pdf

View BVdb publication page

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Immune Response and Lipid Metabolism Gene Polymorphisms Are Associated with the Risk of Obesity in Middle-Aged and Elderly Patients.

Journal Of Personalized Medicine

Ponasenko, Anastasia A; Sinitsky, Maxim M; Minina, Varvara V; Vesnina, Anna A; Khutornaya, Maria M; Prosekov, Alexander A; Barbarash, Olga O

Publication Date: 2022-02-08

Variant appearance in text: rs689

PubMed Link: 35207726

Variant Present in the following documents:

• jpm-12-00238.pdf

View BVdb publication page

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Role of IGF2 in the Study of Development and Evolution of Prostate Cancer.

Frontiers In Genetics

Porras-Quesada, P P; González-Cabezuelo, J M JM; Sánchez-Conde, V V; Puche-Sanz, I I; Arenas-Rodríguez, V V; García-López, C C; Flores-Martín, J F JF; Molina-Hernández, J M JM; Álvarez-Cubero, M J MJ; Martínez-González, L J LJ; Vázquez-Alonso, F F

Publication Date: 2021

Variant appearance in text: rs689

PubMed Link: 35095996

Variant Present in the following documents:

• Main text
• fgene-12-740641.pdf

View BVdb publication page

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Alternative splicing modulation mediated by G-quadruplex structures in MALAT1 lncRNA.

Nucleic Acids Research

Ghosh, Arpita A; Pandey, Satya Prakash SP; Ansari, Asgar Hussain AH; Sundar, Jennifer Seematti JS; Singh, Praveen P; Khan, Yasmeen Y; Ekka, Mary Krishna MK; Chakraborty, Debojyoti D; Maiti, Souvik S

Publication Date: 2021-11-11

Variant appearance in text: rs689

PubMed Link: 34761272

Variant Present in the following documents:

• gkab1066.pdf

View BVdb publication page

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Alternative splicing modulation mediated by G-quadruplex structures in MALAT1 lncRNA.

Nucleic Acids Research

Ghosh, Arpita A; Pandey, Satya Prakash SP; Ansari, Asgar Hussain AH; Sundar, Jennifer Seematti JS; Singh, Praveen P; Khan, Yasmeen Y; Ekka, Mary Krishna MK; Chakraborty, Debojyoti D; Maiti, Souvik S

Publication Date: 2022-01-11

Variant appearance in text: rs689

PubMed Link: 34761272

Variant Present in the following documents:

• gkab1066.pdf

View BVdb publication page

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Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Diabetologia

Patel, Kashyap A KA; Ozbek, Mehmet N MN; Yildiz, Melek M; Guran, Tulay T; Kocyigit, Cemil C; Acar, Sezer S; Siklar, Zeynep Z; Atar, Muge M; Colclough, Kevin K; Houghton, Jayne J; Johnson, Matthew B MB; Ellard, Sian S; Flanagan, Sarah E SE; Cizmecioglu, Filiz F; Berberoglu, Merih M; Demir, Korcan K; Catli, Gonul G; Bas, Serpil S; Akcay, Teoman T; Demirbilek, Huseyin H; Weedon, Michael N MN; Hattersley, Andrew T AT

Publication Date: 2022-02

Variant appearance in text: rs689

PubMed Link: 34686905

Variant Present in the following documents:

• 125_2021_5597_MOESM1_ESM.pdf

View BVdb publication page

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Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients.

Scientific Reports

Qu, Jingchun J; Qu, Hui-Qi HQ; Bradfield, Jonathan P JP; Glessner, Joseph T JT; Chang, Xiao X; Tian, Lifeng L; March, Michael M; Connolly, John J JJ; Roizen, Jeffrey D JD; Sleiman, Patrick M A PMA; Hakonarson, Hakon H

Publication Date: 2021-08-06

Variant appearance in text: rs689

PubMed Link: 34362956

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large parental differences in chromatin organization in pancreatic beta cell line explaining diabetes susceptibility effects.

Nature Communications

Jian, Xing X; Felsenfeld, Gary G

Publication Date: 2021-07-15

Variant appearance in text: rs689

PubMed Link: 34267199

Variant Present in the following documents:

• Main text
• 41467_2021_Article_24635.pdf
• 41467_2021_24635_MOESM1_ESM.pdf

View BVdb publication page

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: rs689

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

View BVdb publication page

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: rs689

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs689

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Analysis of overlapping genetic association in type 1 and type 2 diabetes.

Diabetologia

Inshaw, Jamie R J JRJ; Sidore, Carlo C; Cucca, Francesco F; Stefana, M Irina MI; Crouch, Daniel J M DJM; McCarthy, Mark I MI; Mahajan, Anubha A; Todd, John A JA

Publication Date: 2021-06

Variant appearance in text: rs689

PubMed Link: 33830302

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of overlapping genetic association in type 1 and type 2 diabetes.

Diabetologia

Inshaw, Jamie R J JRJ; Sidore, Carlo C; Cucca, Francesco F; Stefana, M Irina MI; Crouch, Daniel J M DJM; McCarthy, Mark I MI; Mahajan, Anubha A; Todd, John A JA

Publication Date: 2021-06

Variant appearance in text: rs689

PubMed Link: 33830302

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implication of epigenetic factors in the pathogenesis of type 1 diabetes.

Chinese Medical Journal

Zhang, Jing J; Chen, Long-Min LM; Zou, Yuan Y; Zhang, Shu S; Xiong, Fei F; Wang, Cong-Yi CY

Publication Date: 2021-04-01

Variant appearance in text: rs689

PubMed Link: 33813508

Variant Present in the following documents:

• Main text

View BVdb publication page

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Parallel Multi-Omics in High-Risk Subjects for the Identification of Integrated Biomarker Signatures of Type 1 Diabetes.

Biomolecules

Alcazar, Oscar O; Hernandez, Luis F LF; Nakayasu, Ernesto S ES; Nicora, Carrie D CD; Ansong, Charles C; Muehlbauer, Michael J MJ; Bain, James R JR; Myer, Ciara J CJ; Bhattacharya, Sanjoy K SK; Buchwald, Peter P; Abdulreda, Midhat H MH

Publication Date: 2021-03-04

Variant appearance in text: rs689

PubMed Link: 33806609

Variant Present in the following documents:

• biomolecules-11-00383.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs689

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Serum IgG Profiling of Toddlers Reveals a Subgroup with Elevated Seropositive Antibodies to Viruses Correlating with Increased Vaccine and Autoantigen Responses.

Journal Of Clinical Immunology

Pichilingue-Reto, Patricia P; Raj, Prithvi P; Li, Quan-Zhen QZ; Dozmorov, Igor I; Karp, David R DR; Wakeland, Edward K EK; Nelson, Morgan M; Gruchalla, Rebecca S RS; de la Morena, M Teresa MT; van Oers, Nicolai S C NSC

Publication Date: 2021-07

Variant appearance in text: rs689

PubMed Link: 33656624

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Interplay Between Diet and the Epigenome in the Pathogenesis of Type-1 Diabetes.

Frontiers In Nutrition

Kohil, Amira A; Al-Asmakh, Maha M; Al-Shafai, Mashael M; Terranegra, Annalisa A

Publication Date: 2020

Variant appearance in text: rs689

PubMed Link: 33585535

Variant Present in the following documents:

• Main text
• fnut-07-612115.pdf

View BVdb publication page

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Oral insulin immunotherapy in children at risk for type 1 diabetes in a randomised controlled trial.

Diabetologia

Assfalg, Robin R; Knoop, Jan J; Hoffman, Kristi L KL; Pfirrmann, Markus M; Zapardiel-Gonzalo, Jose Maria JM; Hofelich, Anna A; Eugster, Anne A; Weigelt, Marc M; Matzke, Claudia C; Reinhardt, Julia J; Fuchs, Yannick Y; Bunk, Melanie M; Weiss, Andreas A; Hippich, Markus M; Halfter, Kathrin K; Hauck, Stefanie M SM; Hasford, Jörg J; Petrosino, Joseph F JF; Achenbach, Peter P; Bonifacio, Ezio E; Ziegler, Anette-Gabriele AG

Publication Date: 2021-05

Variant appearance in text: rs689

PubMed Link: 33515070

Variant Present in the following documents:

• 125_2020_5376_MOESM1_ESM.pdf

View BVdb publication page

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Genetic Composition and Autoantibody Titers Model the Probability of Detecting C-Peptide Following Type 1 Diabetes Diagnosis.

Diabetes

Williams, MacKenzie D MD; Bacher, Rhonda R; Perry, Daniel J DJ; Grace, C Ramsey CR; McGrail, Kieran M KM; Posgai, Amanda L AL; Muir, Andrew A; Chamala, Srikar S; Haller, Michael J MJ; Schatz, Desmond A DA; Brusko, Todd M TM; Atkinson, Mark A MA; Wasserfall, Clive H CH

Publication Date: 2021-04

Variant appearance in text: rs689

PubMed Link: 33419759

Variant Present in the following documents:

• Main text
• db200937.pdf

View BVdb publication page

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Novel genetic risk factors influence progression of islet autoimmunity to type 1 diabetes.

Scientific Reports

Onengut-Gumuscu, Suna S; Paila, Umadevi U; Chen, Wei-Min WM; Ratan, Aakrosh A; Zhu, Zhennan Z; Steck, Andrea K AK; Frohnert, Brigitte I BI; Waugh, Kathleen C KC; Webb-Robertson, Bobbie-Jo M BM; Norris, Jill M JM; Lange, Leslie A LA; Rewers, Marian J MJ; Rich, Stephen S SS

Publication Date: 2020-11-05

Variant appearance in text: rs689

PubMed Link: 33154504

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-analysis of the association between adiponectin SNP 45, SNP 276, and type 2 diabetes mellitus.

Plos One

Dong, Yuwei Y; Huang, Gongping G; Wang, Xin X; Chu, Zhaoming Z; Miao, Jingzhi J; Zhou, Houwen H

Publication Date: 2020

Variant appearance in text: rs689

PubMed Link: 33091065

Variant Present in the following documents:

• pone.0241078.pdf

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs689

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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The Genetic Effect on Muscular Changes in an Older Population: A Follow-Up Study after One-Year Cessation of Structured Training.

Genes

He, Lingxiao L; Van Roie, Evelien E; Bogaerts, An A; Verschueren, Sabine S; Delecluse, Christophe C; Morse, Christopher I CI; Thomis, Martine M

Publication Date: 2020-08-21

Variant appearance in text: rs689

PubMed Link: 32825595

Variant Present in the following documents:

• Main text
• genes-11-00968.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs689

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India.

Scientific Reports

Harrison, James W JW; Tallapragada, Divya Sri Priyanka DSP; Baptist, Alma A; Sharp, Seth A SA; Bhaskar, Seema S; Jog, Kalpana S KS; Patel, Kashyap A KA; Weedon, Michael N MN; Chandak, Giriraj R GR; Yajnik, Chittaranjan S CS; Oram, Richard A RA

Publication Date: 2020-06-11

Variant appearance in text: rs689

PubMed Link: 32528078

Variant Present in the following documents:

• Main text
• 41598_2020_Article_65317.pdf

View BVdb publication page

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Improving the coverage of credible sets in Bayesian genetic fine-mapping.

Plos Computational Biology

Hutchinson, Anna A; Watson, Hope H; Wallace, Chris C

Publication Date: 2020-04

Variant appearance in text: rs689

PubMed Link: 32282791

Variant Present in the following documents:

• Main text
• pcbi.1007829.pdf

View BVdb publication page

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DNA methylation near the INS gene is associated with INS genetic variation (rs689) and type 1 diabetes in the Diabetes Autoimmunity Study in the Young.

Pediatric Diabetes

Carry, Patrick M PM; Vanderlinden, Lauren A LA; Johnson, Randi K RK; Dong, Fran F; Steck, Andrea K AK; Frohnert, Brigitte I BI; Rewers, Marian M; Yang, Ivana V IV; Kechris, Katerina K; Norris, Jill M JM

Publication Date: 2020-06

Variant appearance in text: rs689

PubMed Link: 32061050

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs689

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.

Diabetes

Forgetta, Vincenzo V; Manousaki, Despoina D; Istomine, Roman R; Ross, Stephanie S; Tessier, Marie-Catherine MC; Marchand, Luc L; Li, Min M; Qu, Hui-Qi HQ; Bradfield, Jonathan P JP; Grant, Struan F A SFA; Hakonarson, Hakon H; , ; Paterson, Andrew D AD; Piccirillo, Ciriaco C; Polychronakos, Constantin C; Richards, J Brent JB

Publication Date: 2020-04

Variant appearance in text: rs689

PubMed Link: 32005708

Variant Present in the following documents:

• Main text
• db190831.pdf

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Epigenetic Regulation in Etiology of Type 1 Diabetes Mellitus.

International Journal Of Molecular Sciences

Cerna, Marie M

Publication Date: 2019-12-19

Variant appearance in text: rs689

PubMed Link: 31861649

Variant Present in the following documents:

• Main text

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Slowly Progressive Type 1 Diabetes Mellitus: Current Knowledge And Future Perspectives.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy

Nishimura, Akihiro A; Matsumura, Kimio K; Kikuno, Shota S; Nagasawa, Kaoru K; Okubo, Minoru M; Mori, Yasumichi Y; Kobayashi, Tetsuro T

Publication Date: 2019

Variant appearance in text: rs689

PubMed Link: 31819572

Variant Present in the following documents:

• Main text

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Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes.

Diabetologia

Claessens, Laura A LA; Wesselius, Joris J; van Lummel, Menno M; Laban, Sandra S; Mulder, Flip F; Mul, Dick D; Nikolic, Tanja T; Aanstoot, Henk-Jan HJ; Koeleman, Bobby P C BPC; Roep, Bart O BO

Publication Date: 2020-02

Variant appearance in text: rs689

PubMed Link: 31754749

Variant Present in the following documents:

• 125_2019_Article_5032.pdf

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Methods for quick, accurate and cost-effective determination of the type 1 diabetes genetic risk score (T1D-GRS).

Clinical Chemistry And Laboratory Medicine

Locke, Jonathan M JM; Latten, Mark J MJ; Datta, Renu Y RY; Wood, Andrew R AR; Crockard, Martin A MA; Lamont, John V JV; Weedon, Michael N MN; Oram, Richard A RA

Publication Date: 2020-03-26

Variant appearance in text: rs689

PubMed Link: 31665112

Variant Present in the following documents:

• Main text
• cclm-58-4-cclm-2019-0787.pdf

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: INS: -17-6T>A; rs689

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs689

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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Development and validation of multivariable clinical diagnostic models to identify type 1 diabetes requiring rapid insulin therapy in adults aged 18-50 years.

Bmj Open

Lynam, Anita A; McDonald, Timothy T; Hill, Anita A; Dennis, John J; Oram, Richard R; Pearson, Ewan E; Weedon, Michael M; Hattersley, Andrew A; Owen, Katharine K; Shields, Beverley B; Jones, Angus A

Publication Date: 2019-09-26

Variant appearance in text: rs689

PubMed Link: 31558459

Variant Present in the following documents:

• bmjopen-2019-031586.draft_revisions.pdf

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Association of metabolism-related genes polymorphisms with adenocarcinoma of the oesophagogastric junction: Evidence from 2261 subjects.

Journal Of Cellular Biochemistry

Tang, Weifeng W; Liu, Jun J; Zhong, Zhihui Z; Qiu, Hao H; Kang, Mingqiang M

Publication Date: 2019-11

Variant appearance in text: rs689

PubMed Link: 31211453

Variant Present in the following documents:

• Main text

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Thioflavin T Monitoring of Guanine Quadruplex Formation in the rs689-Dependent INS Intron 1.

Molecular Therapy. Nucleic Acids

Lages, Ana A; Proud, Christopher G CG; Holloway, John W JW; Vorechovsky, Igor I

Publication Date: 2019-06-07

Variant appearance in text: rs689

PubMed Link: 31150930

Variant Present in the following documents:

• Main text

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Variants in the BACH2 and CLEC16A gene might be associated with susceptibility to insulin-triggered type 1 diabetes.

Journal Of Diabetes Investigation

Onuma, Hiroshi H; Kawamura, Ryoichi R; Tabara, Yasuharu Y; Yamashita, Masakatsu M; Ohashi, Jun J; Kawasaki, Eiji E; Imagawa, Akihisa A; Yamada, Yuya Y; Chujo, Daisuke D; Takahashi, Kenji K; Suehiro, Tadashi T; Takata, Yasunori Y; Osawa, Haruhiko H; Makino, Hideichi H

Publication Date: 2019-11

Variant appearance in text: rs689

PubMed Link: 30970177

Variant Present in the following documents:

• Main text
• JDI-10-1447.pdf

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Predicting Islet Cell Autoimmunity and Type 1 Diabetes: An 8-Year TEDDY Study Progress Report.

Diabetes Care

Krischer, Jeffrey P JP; Liu, Xiang X; Vehik, Kendra K; Akolkar, Beena B; Hagopian, William A WA; Rewers, Marian J MJ; She, Jin-Xiong JX; Toppari, Jorma J; Ziegler, Anette-G AG; Lernmark, Åke Å; ,

Publication Date: 2019-06

Variant appearance in text: rs689

PubMed Link: 30967432

Variant Present in the following documents:

• Main text

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs689

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score.

Diabetes Care

Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Robertson, Catherine C CC; Bonnie, Jessica K JK; Farber, Emily E; Zhu, Zhennan Z; Oksenberg, Jorge R JR; Brant, Steven R SR; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Gregersen, Peter K PK; Rewers, Marian J MJ; Steck, Andrea K AK; Black, Mary H MH; Dabelea, Dana D; Pihoker, Catherine C; Atkinson, Mark A MA; Wagenknecht, Lynne E LE; Divers, Jasmin J; Bell, Ronny A RA; , ; , ; Erlich, Henry A HA; Concannon, Patrick P; Rich, Stephen S SS

Publication Date: 2019-03

Variant appearance in text: rs689

PubMed Link: 30659077

Variant Present in the following documents:

• Main text

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Genetic Variants in Preeclampsia: Lessons From Studies in Latin-American Populations.

Frontiers In Physiology

Michita, Rafael Tomoya RT; Kaminski, Valéria de Lima VL; Chies, José Artur Bogo JAB

Publication Date: 2018

Variant appearance in text: rs689

PubMed Link: 30618791

Variant Present in the following documents:

• Main text

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