Publications:

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Genetics of type 2 diabetes mellitus in Indian and Global Population: A Review.

The Egyptian Journal Of Medical Human Genetics

Joseph, Anjaly A; Thirupathamma, Maradana M; Mathews, Elezebeth E; Alagu, Manickavelu M

Publication Date: 2022

Variant appearance in text: rs1044498

PubMed Link: 37192883

Variant Present in the following documents:

• Main text
• 43042_2022_Article_346.pdf

View BVdb publication page

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Association between Genotype and the Glycemic Response to an Oral Glucose Tolerance Test: A Systematic Review.

Nutrients

Bayer, Sandra S; Reik, Anna A; von Hesler, Lena L; Hauner, Hans H; Holzapfel, Christina C

Publication Date: 2023-03-30

Variant appearance in text: rs1044498

PubMed Link: 37049537

Variant Present in the following documents:

• nutrients-15-01695.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ENPP1: K173Q

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ENPP1: K173Q; rs1044498

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: ENPP1: K173Q; rs1044498

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Current Studies on Molecular Mechanisms of Insulin Resistance.

Journal Of Diabetes Research

Pei, Jinli J; Wang, Baochun B; Wang, Dayong D

Publication Date: 2022

Variant appearance in text: rs1044498

PubMed Link: 36589630

Variant Present in the following documents:

• JDR2022-1863429.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1044498

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: ENPP1: K173Q

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: ENPP1: 517A>C; rs1044498

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.

International Journal Of Molecular Sciences

Jankovic, Milena M; Petrovic, Bojana B; Novakovic, Ivana I; Brankovic, Slavko S; Radosavljevic, Natasa N; Nikolic, Dejan D

Publication Date: 2022-01-29

Variant appearance in text: ENPP1: K173Q

PubMed Link: 35163523

Variant Present in the following documents:

• Main text
• ijms-23-01601.pdf

View BVdb publication page

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The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.

International Journal Of Molecular Sciences

Jankovic, Milena M; Petrovic, Bojana B; Novakovic, Ivana I; Brankovic, Slavko S; Radosavljevic, Natasa N; Nikolic, Dejan D

Publication Date: 2022-01-29

Variant appearance in text: ENPP1: K173Q

PubMed Link: 35163523

Variant Present in the following documents:

• Main text
• ijms-23-01601.pdf

View BVdb publication page

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Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.

International Journal Of Environmental Research And Public Health

Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N

Publication Date: 2022-01-06

Variant appearance in text: rs1044498

PubMed Link: 35055468

Variant Present in the following documents:

• Main text
• ijerph-19-00647.pdf

View BVdb publication page

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Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.

International Journal Of Environmental Research And Public Health

Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N

Publication Date: 2022-01-06

Variant appearance in text: rs1044498

PubMed Link: 35055468

Variant Present in the following documents:

• Main text
• ijerph-19-00647.pdf

View BVdb publication page

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Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience

Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD

Publication Date: 2022-01-21

Variant appearance in text: ENPP1: K173Q; rs1044498

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics and Personalized Medicine in Type 2 Diabetes Mellitus: Potential Implications for Clinical Practice.

Pharmacogenomics And Personalized Medicine

Venkatachalapathy, Poongothai P; Padhilahouse, Sruthi S; Sellappan, Mohan M; Subramanian, Tharunika T; Kurian, Shilia Jacob SJ; Miraj, Sonal Sekhar SS; Rao, Mahadev M; Raut, Ashwin Ashok AA; Kanwar, Rupinder Kaur RK; Singh, Jitendra J; Khadanga, Sagar S; Mondithoka, Sukumar S; Munisamy, Murali M

Publication Date: 2021

Variant appearance in text: rs1044498

PubMed Link: 34803393

Variant Present in the following documents:

• Main text
• pgpm-14-1441.pdf

View BVdb publication page

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Genetics Is of the Essence to Face NAFLD.

Biomedicines

Meroni, Marica M; Longo, Miriam M; Tria, Giada G; Dongiovanni, Paola P

Publication Date: 2021-09-30

Variant appearance in text: rs1044498

PubMed Link: 34680476

Variant Present in the following documents:

• Main text
• biomedicines-09-01359.pdf

View BVdb publication page

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Association of the ENPP1/ENTPD1 Polymorphisms in Hemodialysis Patients.

International Journal Of General Medicine

Zhang, Xi X; Wan, Ziming Z; Cheng, Si S; Gan, Hua H

Publication Date: 2021

Variant appearance in text: rs1044498

PubMed Link: 34675608

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Review of the Increasing Prevalence of Metabolic-Associated Fatty Liver Disease (MAFLD) in Children and Adolescents Worldwide and in Mexico and the Implications for Public Health.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Ramírez-Mejía, Mariana M MM; Díaz-Orozco, Luis E LE; Barranco-Fragoso, Beatriz B; Méndez-Sánchez, Nahum N

Publication Date: 2021-08-30

Variant appearance in text: rs1044498

PubMed Link: 34456329

Variant Present in the following documents:

• Main text
• medscimonit-27-e934134.pdf

View BVdb publication page

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Associations of transcription factor 7-Like 2 (TCF7L2) gene polymorphism in patients of type 2 diabetes mellitus from Khyber Pakhtunkhwa population of Pakistan.

African Health Sciences

Hameed, Taha T; Khan, Zahid Z; Imran, Muhammad M; Ali, Saif S; Albegali, Abdullah Abdo AA; Ullah, Muhammad Ikram MI; Ejaz, Hasan H

Publication Date: 2021-03

Variant appearance in text: rs1044498

PubMed Link: 34394276

Variant Present in the following documents:

• AFHS2101-0015.pdf

View BVdb publication page

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Influence of Single Nucleotide Polymorphism of ENPP1 and ADIPOQ on Insulin Resistance and Obesity: A Case-Control Study in a Javanese Population.

Life (Basel, Switzerland)

Arianti, Rini R; Ariani, Nia Lukita NL; Muhammad, Al Azhar AA; Sadewa, Ahmad Hamim AH; Farmawati, Arta A; Sunarti, ; Hastuti, Pramudji P; Kristóf, Endre E

Publication Date: 2021-06-11

Variant appearance in text: rs1044498

PubMed Link: 34208364

Variant Present in the following documents:

• Main text
• life-11-00552.pdf

View BVdb publication page

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Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

International Journal Of Obesity (2005)

Younes, Salma S; Ibrahim, Amal A; Al-Jurf, Rana R; Zayed, Hatem H

Publication Date: 2021-09

Variant appearance in text: rs1044498

PubMed Link: 34131278

Variant Present in the following documents:

• Main text
• 41366_2021_Article_867.pdf
• 41366_2021_867_MOESM3_ESM.xlsx, sheet 1

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: ENPP1: 517A>C; K173Q; rs1044498

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.

Plos One

Goto, Kosuke K; Mineta, Katsuhiko K; Miyazaki, Satoru S; Gojobori, Takashi T

Publication Date: 2021

Variant appearance in text: ENPP1: 517A>C; Lys173Gln; rs1044498

PubMed Link: 33848288

Variant Present in the following documents:

• Main text
• pone.0249226.pdf

View BVdb publication page

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Clinical and Genetic Risk Factors of Recurrent Nonalcoholic Fatty Liver Disease After Liver Transplantation.

Clinical And Translational Gastroenterology

Satapathy, Sanjaya K SK; Tran, Quynh T QT; Kovalic, Alexander J AJ; Bontha, Sai Vineela SV; Jiang, Yu Y; Kedia, Satish S; Karri, Saradashri S; Mupparaju, Vamsee V; Podila, Pradeep S B PSB; Verma, Rajanshu R; Maluf, Daniel D; Mas, Valeria V; Nair, Satheesh S; Eason, James D JD; Bridges, Dave D; Kleiner, David E DE

Publication Date: 2021-02-05

Variant appearance in text: rs1044498

PubMed Link: 33555168

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: ENPP1: 517A>C; K173Q; rs1044498

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Nonalcoholic fatty liver disease (NAFLD) from pathogenesis to treatment concepts in humans.

Molecular Metabolism

Pafili, Kalliopi K; Roden, Michael M

Publication Date: 2021-08

Variant appearance in text: rs1044498

PubMed Link: 33220492

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: ENPP1: K173Q

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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The genetic map of diabetic nephropathy: evidence from a systematic review and meta-analysis of genetic association studies.

Clinical Kidney Journal

Tziastoudi, Maria M; Stefanidis, Ioannis I; Zintzaras, Elias E

Publication Date: 2020-10

Variant appearance in text: ENPP1: K173Q; rs1044498

PubMed Link: 33123356

Variant Present in the following documents:

• Main text
• sfaa077.pdf

View BVdb publication page

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Associations between Genotype-Diet Interactions and Weight Loss-A Systematic Review.

Nutrients

Bayer, Sandra S; Winkler, Vincent V; Hauner, Hans H; Holzapfel, Christina C

Publication Date: 2020-09-22

Variant appearance in text: rs1044498

PubMed Link: 32971836

Variant Present in the following documents:

• Main text
• nutrients-12-02891.pdf

View BVdb publication page

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Heritability and Genetics of Type 2 Diabetes Mellitus in Sub-Saharan Africa: A Systematic Review and Meta-Analysis.

Journal Of Diabetes Research

Asamoah, Evans Adu EA; Obirikorang, Christian C; Acheampong, Emmanuel E; Annani-Akollor, Max Efui ME; Laing, Edwin Ferguson EF; Owiredu, Eddie-Williams EW; Anto, Enoch Odame EO

Publication Date: 2020

Variant appearance in text: rs1044498

PubMed Link: 32685554

Variant Present in the following documents:

• Main text
• 3198671.f1.pdf
• JDR2020-3198671.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: ENPP1: K173Q

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings.

Frontiers In Medicine

Boraldi, Federica F; Lofaro, Francesco Demetrio FD; Costa, Sonia S; Moscarelli, Pasquale P; Quaglino, Daniela D

Publication Date: 2019

Variant appearance in text: ENPP1: 517A>C; Lys173Gln; rs1044498

PubMed Link: 32039214

Variant Present in the following documents:

• Main text
• fmed-06-00322.pdf

View BVdb publication page

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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: ENPP1: 517A>C; Lys173Gln; rs1044498

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: ENPP1: K173Q; rs1044498

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Gene-lifestyle interaction on risk of type 2 diabetes: A systematic review.

Obesity Reviews : An Official Journal Of The International Association For The Study Of Obesity

Dietrich, Stefan S; Jacobs, Simone S; Zheng, Ju-Sheng JS; Meidtner, Karina K; Schwingshackl, Lukas L; Schulze, Matthias B MB

Publication Date: 2019-11

Variant appearance in text: rs1044498

PubMed Link: 31478326

Variant Present in the following documents:

• Main text
• OBR-20-.pdf

View BVdb publication page

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Gene-lifestyle interaction on risk of type 2 diabetes: A systematic review.

Obesity Reviews : An Official Journal Of The International Association For The Study Of Obesity

Dietrich, Stefan S; Jacobs, Simone S; Zheng, Ju-Sheng JS; Meidtner, Karina K; Schwingshackl, Lukas L; Schulze, Matthias B MB

Publication Date: 2019-11

Variant appearance in text: rs1044498

PubMed Link: 31478326

Variant Present in the following documents:

• Main text
• OBR-20-.pdf

View BVdb publication page

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MC4R and ENPP1 gene polymorphisms and their implication in maternal and neonatal risk for obesity.

Scientific Reports

Mărginean, Claudiu C; Mărginean, Cristina Oana CO; Iancu, Mihaela M; Meliț, Lorena Elena LE; Tripon, Florin F; Bănescu, Claudia C

Publication Date: 2019-07-26

Variant appearance in text: rs1044498

PubMed Link: 31350533

Variant Present in the following documents:

• Main text
• 41598_2019_Article_47402.pdf

View BVdb publication page

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K121Q polymorphism in the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 gene is associated with acute kidney rejection.

Plos One

Sortica, Denise A DA; Crispim, Daisy D; Bauer, Andrea C AC; Nique, Pamela S PS; Nicoletto, Bruna B BB; Crestani, Ricieli P RP; Staehler, Jennifer T JT; Manfro, Roberto C RC; Canani, Luis H LH

Publication Date: 2019

Variant appearance in text: rs1044498

PubMed Link: 31318911

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of genetic polymorphism of PC-1 gene (rs1044498 Lys121Gln) with insulin-resistant type 2 diabetes mellitus in Punjabi Population of Pakistan.

Molecular Genetics & Genomic Medicine

Albegali, Abdullah Abdo AA; Shahzad, Muhammad M; Ullah, Muhammad Ikram MI; Mahmood, Saqib S; Rashid, Maryam M

Publication Date: 2019-08

Variant appearance in text: rs1044498

PubMed Link: 31250990

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and Epigenetic Studies in Diabetic Kidney Disease.

Frontiers In Genetics

Gu, Harvest F HF

Publication Date: 2019

Variant appearance in text: rs1044498

PubMed Link: 31231424

Variant Present in the following documents:

• Main text
• fgene-10-00507.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ENPP1: 517A>C; Lys173Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Update on pathogenesis, diagnostics and therapy of nonalcoholic fatty liver disease in children.

Clinical And Experimental Hepatology

Flisiak-Jackiewicz, Marta M; Lebensztejn, Dariusz Marek DM

Publication Date: 2019-03

Variant appearance in text: rs1044498

PubMed Link: 30915402

Variant Present in the following documents:

• Main text
• CEH-5-83152.pdf

View BVdb publication page

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