Publications:

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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: GIP: 307A>G; Ser103Gly

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

---

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: N/A

PubMed Link: 36755093

Variant Present in the following documents:

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: GIP: S103G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

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: GIP: S103G; rs2291725

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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The Location of Missense Variants in the Human GIP Gene Is Indicative for Natural Selection.

Frontiers In Endocrinology

Lindquist, Peter P; Gasbjerg, Lærke Smidt LS; Mokrosinski, Jacek J; Holst, Jens Juul JJ; Hauser, Alexander Sebastian AS; Rosenkilde, Mette Marie MM

Publication Date: 2022

Variant appearance in text: GIP: S103G

PubMed Link: 35846282

Variant Present in the following documents:

• Main text
• fendo-13-891586.pdf

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: GIP: S103G

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

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: GIP: S103G; rs2291725

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: GIP: S103G

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Leveraging human genetic data to investigate the cardiometabolic effects of glucose-dependent insulinotropic polypeptide signalling.

Diabetologia

Karhunen, Ville V; Daghlas, Iyas I; Zuber, Verena V; Vujkovic, Marijana M; Olsen, Anette K AK; Knudsen, Lotte Bjerre LB; Haynes, William G WG; Howson, Joanna M M JMM; Gill, Dipender D

Publication Date: 2021-12

Variant appearance in text: rs2291725

PubMed Link: 34505161

Variant Present in the following documents:

• Main text
• 125_2021_Article_5564.pdf
• 125_2021_5564_MOESM1_ESM.pdf

View BVdb publication page

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Leveraging human genetic data to investigate the cardiometabolic effects of glucose-dependent insulinotropic polypeptide signalling.

Diabetologia

Karhunen, Ville V; Daghlas, Iyas I; Zuber, Verena V; Vujkovic, Marijana M; Olsen, Anette K AK; Knudsen, Lotte Bjerre LB; Haynes, William G WG; Howson, Joanna M M JMM; Gill, Dipender D

Publication Date: 2021-12

Variant appearance in text: rs2291725

PubMed Link: 34505161

Variant Present in the following documents:

• Main text
• 125_2021_Article_5564.pdf
• 125_2021_5564_MOESM1_ESM.pdf

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: GIP: 307A>G; S103G; rs2291725

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of novel functional CpG-SNPs associated with Type 2 diabetes and birth weight.

Aging

Liu, Rui-Ke RK; Lin, Xu X; Wang, Zun Z; Greenbaum, Jonathan J; Qiu, Chuan C; Zeng, Chun-Ping CP; Zhu, Yong-Yao YY; Shen, Jie J; Deng, Hong-Wen HW

Publication Date: 2021-04-04

Variant appearance in text: rs2291725

PubMed Link: 33835050

Variant Present in the following documents:

• Main text
• aging-13-202828.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: GIP: S103G; rs2291725

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: GIP: 307A>G; S103G; rs2291725

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

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: GIP: 307A>G; S103G; rs2291725

PubMed Link: 33420045

Variant Present in the following documents:

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

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: GIP: S103G

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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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: GIP: S103G; rs2291725

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Selected neuropeptide genes show genetic differentiation between Africans and non-Africans.

Bmc Genetics

Tai, Kah Yee KY; Wong, KokSheik K; Aghakhanian, Farhang F; Parhar, Ishwar S IS; Dhaliwal, Jasbir J; Ayub, Qasim Q

Publication Date: 2020-03-14

Variant appearance in text: rs2291725

PubMed Link: 32171244

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel functional CpG-SNPs associated with type 2 diabetes and coronary artery disease.

Molecular Genetics And Genomics : Mgg

Wang, Zun Z; Qiu, Chuan C; Lin, Xu X; Zhao, Lan-Juan LJ; Liu, Yong Y; Wu, Xinrui X; Wang, Qian Q; Liu, Wei W; Li, Kelvin K; Deng, Hong-Wen HW; Tang, Si-Yuan SY; Shen, Hui H

Publication Date: 2020-05

Variant appearance in text: rs2291725

PubMed Link: 32162118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Glucose-dependent insulinotropic peptide and risk of cardiovascular events and mortality: a prospective study.

Diabetologia

Jujić, Amra A; Atabaki-Pasdar, Naeimeh N; Nilsson, Peter M PM; Almgren, Peter P; Hakaste, Liisa L; Tuomi, Tiinamaija T; Berglund, Lisa M LM; Franks, Paul W PW; Holst, Jens J JJ; Prasad, Rashmi B RB; Torekov, Signe S SS; Ravassa, Susana S; Díez, Javier J; Persson, Margaretha M; Melander, Olle O; Gomez, Maria F MF; Groop, Leif L; Ahlqvist, Emma E; Magnusson, Martin M

Publication Date: 2020-05

Variant appearance in text: rs2291725

PubMed Link: 31974732

Variant Present in the following documents:

• Main text
• 125_2020_Article_5093.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: GIP: S103G

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The molecular landscape of ETMR at diagnosis and relapse.

Nature

Lambo, Sander S; Gröbner, Susanne N SN; Rausch, Tobias T; Waszak, Sebastian M SM; Schmidt, Christin C; Gorthi, Aparna A; Romero, July Carolina JC; Mauermann, Monika M; Brabetz, Sebastian S; Krausert, Sonja S; Buchhalter, Ivo I; Koster, Jan J; Zwijnenburg, Danny A DA; Sill, Martin M; Hübner, Jens-Martin JM; Mack, Norman N; Schwalm, Benjamin B; Ryzhova, Marina M; Hovestadt, Volker V; Papillon-Cavanagh, Simon S; Chan, Jennifer A JA; Landgraf, Pablo P; Ho, Ben B; Milde, Till T; Witt, Olaf O; Ecker, Jonas J; Sahm, Felix F; Sumerauer, David D; Ellison, David W DW; Orr, Brent A BA; Darabi, Anna A; Haberler, Christine C; Figarella-Branger, Dominique D; Wesseling, Pieter P; Schittenhelm, Jens J; Remke, Marc M; Taylor, Michael D MD; Gil-da-Costa, Maria J MJ; Łastowska, Maria M; Grajkowska, Wiesława W; Hasselblatt, Martin M; Hauser, Peter P; Pietsch, Torsten T; Uro-Coste, Emmanuelle E; Bourdeaut, Franck F; Masliah-Planchon, Julien J; Rigau, Valérie V; Alexandrescu, Sanda S; Wolf, Stephan S; Li, Xiao-Nan XN; Schüller, Ulrich U; Snuderl, Matija M; Karajannis, Matthias A MA; Giangaspero, Felice F; Jabado, Nada N; von Deimling, Andreas A; Jones, David T W DTW; Korbel, Jan O JO; von Hoff, Katja K; Lichter, Peter P; Huang, Annie A; Bishop, Alexander J R AJR; Pfister, Stefan M SM; Korshunov, Andrey A; Kool, Marcel M

Publication Date: 2019-12

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 31802000

Variant Present in the following documents:

• NIHMS1541318-supplement-Supplementary_Table_5.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: GIP: S103G; rs2291725

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_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Characterizing rare and low-frequency height-associated variants in the Japanese population.

Nature Communications

Akiyama, Masato M; Ishigaki, Kazuyoshi K; Sakaue, Saori S; Momozawa, Yukihide Y; Horikoshi, Momoko M; Hirata, Makoto M; Matsuda, Koichi K; Ikegawa, Shiro S; Takahashi, Atsushi A; Kanai, Masahiro M; Suzuki, Sadao S; Matsui, Daisuke D; Naito, Mariko M; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Tanno, Kozo K; Sasaki, Makoto M; Hozawa, Atsushi A; Minegishi, Naoko N; Wakai, Kenji K; Tsugane, Shoichiro S; Shimizu, Atsushi A; Yamamoto, Masayuki M; Okada, Yukinori Y; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y

Publication Date: 2019-09-27

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 31562340

Variant Present in the following documents:

• 41467_2019_12276_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

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: GIP: 307A>G; Ser103Gly; rs2291725

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: GIP: 307A>G; Ser103Gly; rs2291725

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

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Genetic Variability of the Glucose-Dependent Insulinotropic Peptide Gene Is Involved in the Premature Coronary Artery Disease in a Chinese Population with Type 2 Diabetes.

Journal Of Diabetes Research

Ma, Xiaowei X; Huang, Jia J; Lu, Difei D; Gu, Nan N; Lu, Ran R; Zhang, Jianwei J; Zhang, Hong H; Li, Jianping J; Zhang, Junqing J; Guo, Xiaohui X

Publication Date: 2018

Variant appearance in text: GIP: ser103gly; rs2291725

PubMed Link: 29765988

Variant Present in the following documents:

• Main text
• JDR2018-6820294.pdf

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Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

Nature Communications

Bonàs-Guarch, Sílvia S; Guindo-Martínez, Marta M; Miguel-Escalada, Irene I; Grarup, Niels N; Sebastian, David D; Rodriguez-Fos, Elias E; Sánchez, Friman F; Planas-Fèlix, Mercè M; Cortes-Sánchez, Paula P; González, Santi S; Timshel, Pascal P; Pers, Tune H TH; Morgan, Claire C CC; Moran, Ignasi I; Atla, Goutham G; González, Juan R JR; Puiggros, Montserrat M; Martí, Jonathan J; Andersson, Ehm A EA; Díaz, Carlos C; Badia, Rosa M RM; Udler, Miriam M; Leong, Aaron A; Kaur, Varindepal V; Flannick, Jason J; Jørgensen, Torben T; Linneberg, Allan A; Jørgensen, Marit E ME; Witte, Daniel R DR; Christensen, Cramer C; Brandslund, Ivan I; Appel, Emil V EV; Scott, Robert A RA; Luan, Jian'an J; Langenberg, Claudia C; Wareham, Nicholas J NJ; Pedersen, Oluf O; Zorzano, Antonio A; Florez, Jose C JC; Hansen, Torben T; Ferrer, Jorge J; Mercader, Josep Maria JM; Torrents, David D

Publication Date: 2018-01-22

Variant appearance in text: GIP: Ser103Gly; rs2291725

PubMed Link: 29358691

Variant Present in the following documents:

• 41467_2017_2380_MOESM10_ESM.xlsx, sheet 1

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease.

Database : The Journal Of Biological Databases And Curation

Cheema, Asma N AN; Rosenthal, Samantha L SL; Ilyas Kamboh, M M

Publication Date: 2017-01-01

Variant appearance in text: rs2291725

PubMed Link: 29220472

Variant Present in the following documents:

• Main text
• bax078.pdf

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Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

Circulation Research

van der Harst, Pim P; Verweij, Niek N

Publication Date: 2018-02-02

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 29212778

Variant Present in the following documents:

• res-122-433-s002.xlsx, sheet 10

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Rs46522 in the Ubiquitin-Conjugating Enzyme E2Z Gene Is Associated with the Risk of Coronary Artery Disease in Individuals of Chinese Han Population with Type 2 Diabetes.

Journal Of Diabetes Research

Lu, Difei D; Huang, Jia J; Ma, Xiaowei X; Gu, Nan N; Zhang, Junqing J; Zhang, Hong H; Guo, Xiaohui X

Publication Date: 2017

Variant appearance in text: GIP: Ser103Gly; rs2291725

PubMed Link: 28840129

Variant Present in the following documents:

• Main text

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2291725

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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The effect of glucose-dependent insulinotropic polypeptide (GIP) variants on visceral fat accumulation in Han Chinese populations.

Nutrition & Diabetes

Wang, T T; Ma, X X; Tang, T T; Higuchi, K K; Peng, D D; Zhang, R R; Chen, M M; Yan, J J; Wang, S S; Yan, D D; He, Z Z; Jiang, F F; Bao, Y Y; Jia, W W; Ishida, K K; Hu, C C

Publication Date: 2017-05-22

Variant appearance in text: rs2291725

PubMed Link: 28530680

Variant Present in the following documents:

• Main text
• nutd201728a.pdf

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Glucose-dependent insulinotropic polypeptide (GIP) and GIP receptor (GIPR) genes: An association analysis of polymorphisms and bone in young and elderly women.

Bone Reports

Garg, Gaurav G; McGuigan, Fiona E FE; Kumar, Jitender J; Luthman, Holger H; Lyssenko, Valeriya V; Akesson, Kristina K

Publication Date: 2016-06

Variant appearance in text: GIP: S103G; rs2291725

PubMed Link: 28326339

Variant Present in the following documents:

• Main text

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Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese.

Molecular Genetics And Metabolism Reports

Enya, Mayumi M; Horikawa, Yukio Y; Iizuka, Katsumi K; Takeda, Jun J

Publication Date: 2014

Variant appearance in text: GIP: Ser103Gly

PubMed Link: 27896108

Variant Present in the following documents:

• Main text
• main.pdf

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Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.

Nature Communications

Miller, Clint L CL; Pjanic, Milos M; Wang, Ting T; Nguyen, Trieu T; Cohain, Ariella A; Lee, Jonathan D JD; Perisic, Ljubica L; Hedin, Ulf U; Kundu, Ramendra K RK; Majmudar, Deshna D; Kim, Juyong B JB; Wang, Oliver O; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Assimes, Themistocles L TL; Montgomery, Stephen B SB; Schadt, Eric E EE; Björkegren, Johan L M JLM; Quertermous, Thomas T

Publication Date: 2016-07-08

Variant appearance in text: rs2291725

PubMed Link: 27386823

Variant Present in the following documents:

• ncomms12092-s6.xlsx, sheet 1

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: GIP: S103G

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

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Genetic analysis for a shared biological basis between migraine and coronary artery disease.

Neurology. Genetics

Winsvold, Bendik S BS; Nelson, Christopher P CP; Malik, Rainer R; Gormley, Padhraig P; Anttila, Verneri V; Vander Heiden, Jason J; Elliott, Katherine S KS; Jacobsen, Line M LM; Palta, Priit P; Amin, Najaf N; de Vries, Boukje B; Hämäläinen, Eija E; Freilinger, Tobias T; Ikram, M Arfan MA; Kessler, Thorsten T; Koiranen, Markku M; Ligthart, Lannie L; McMahon, George G; Pedersen, Linda M LM; Willenborg, Christina C; Won, Hong-Hee HH; Olesen, Jes J; Artto, Ville V; Assimes, Themistocles L TL; Blankenberg, Stefan S; Boomsma, Dorret I DI; Cherkas, Lynn L; Davey Smith, George G; Epstein, Stephen E SE; Erdmann, Jeanette J; Ferrari, Michel D MD; Göbel, Hartmut H; Hall, Alistair S AS; Jarvelin, Marjo-Riitta MR; Kallela, Mikko M; Kaprio, Jaakko J; Kathiresan, Sekar S; Lehtimäki, Terho T; McPherson, Ruth R; März, Winfried W; Nyholt, Dale R DR; O'Donnell, Christopher J CJ; Quaye, Lydia L; Rader, Daniel J DJ; Raitakari, Olli O; Roberts, Robert R; Schunkert, Heribert H; Schürks, Markus M; Stewart, Alexandre F R AF; Terwindt, Gisela M GM; Thorsteinsdottir, Unnur U; van den Maagdenberg, Arn M J M AM; van Duijn, Cornelia C; Wessman, Maija M; Kurth, Tobias T; Kubisch, Christian C; Dichgans, Martin M; Chasman, Daniel I DI; Cotsapas, Chris C; Zwart, John-Anker JA; Samani, Nilesh J NJ; Palotie, Aarno A; ,

Publication Date: 2015-06

Variant appearance in text: GIP: Ser103Gly; rs2291725

PubMed Link: 27066539

Variant Present in the following documents:

• Main text
• supp_1.1.e10_Tables_e-1-e-7.pdf
• NG2015000190.pdf

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