GPATCH1 c.1427T>C ;(p.L476P)

Variant ID: 19-33600764-T-C

NM_018025.2(GPATCH1):c.1427T>C;(p.L476P)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


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: GPATCH1: L476P
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



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: GPATCH1: L476P; rs2287679
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



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: GPATCH1: L476P; rs2287679
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: GPATCH1: L476P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



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: GPATCH1: L476P; rs2287679
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
View BVdb publication page



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: GPATCH1: 1427T>C; Leu476Pro
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 8
  • Table_1.xlsx, sheet 4
View BVdb publication page



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: GPATCH1: L476P; rs2287679
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



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: GPATCH1: L476P
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



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: GPATCH1: L476P; rs2287679
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 6
  • mmc2.xlsx, sheet 9
View BVdb publication page



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: GPATCH1: L476P; rs2287679
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 6
View BVdb publication page



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: GPATCH1: 1427T>C; L476P; rs2287679
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: GPATCH1: L476P; rs2287679
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: GPATCH1: 1427T>C; L476P; rs2287679
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



A Meta-Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Yau, Michelle S MS; Kuipers, Allison L AL; Price, Ryan R; Nicolas, Aude A; Tajuddin, Salman M SM; Handelman, Samuel K SK; Arbeeva, Liubov L; Chesi, Alessandra A; Hsu, Yi-Hsiang YH; Liu, Ching-Ti CT; Karasik, David D; Zemel, Babette S BS; Grant, Struan Fa SF; Jordan, Joanne M JM; Jackson, Rebecca D RD; Evans, Michele K MK; Harris, Tamara B TB; Zmuda, Joseph M JM; Kiel, Douglas P DP
Publication Date: 2021-03

Variant appearance in text: rs2287679
PubMed Link: 33249669
Variant Present in the following documents:
  • Main text
View BVdb publication page



The shaping of immunological responses through natural selection after the Roma Diaspora.

Scientific Reports
Dobon, Begoña B; Ter Horst, Rob R; Laayouni, Hafid H; Mondal, Mayukh M; Bianco, Erica E; Comas, David D; Ioana, Mihai M; Bosch, Elena E; Bertranpetit, Jaume J; Netea, Mihai G MG
Publication Date: 2020-09-30

Variant appearance in text: rs2287679
PubMed Link: 32999407
Variant Present in the following documents:
  • Main text
  • 41598_2020_73182_MOESM1_ESM.pdf
  • 41598_2020_Article_73182.pdf
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: GPATCH1: 1427T>C; Leu476Pro
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 3
  • Supplementary_Data2.xlsx, sheet 2
View BVdb publication page



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: GPATCH1: L476P; rs2287679
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_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: GPATCH1: L476P; rs2287679
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
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: GPATCH1: L476P; rs2287679
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: GPATCH1: L476P; rs2287679
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: GPATCH1: 1427T>C; Leu476Pro; rs2287679
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One
Kim, Stuart K SK
Publication Date: 2018

Variant appearance in text: GPATCH1: L476P; rs2287679
PubMed Link: 30048462
Variant Present in the following documents:
  • pone.0200785.s003.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: GPATCH1: L476P; rs2287679
PubMed Link: 30030262
Variant Present in the following documents:
  • annrheumdis-2018-213524supp002.xlsx, sheet 1
View BVdb publication page



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: GPATCH1: L476P; rs2287679
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



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: rs2287679
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: GPATCH1: L476P
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



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: rs2287679
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.

Scientific Reports
Timofeeva, Maria N MN; Kinnersley, Ben B; Farrington, Susan M SM; Whiffin, Nicola N; Palles, Claire C; Svinti, Victoria V; Lloyd, Amy A; Gorman, Maggie M; Ooi, Li-Yin LY; Hosking, Fay F; Barclay, Ella E; Zgaga, Lina L; Dobbins, Sara S; Martin, Lynn L; Theodoratou, Evropi E; Broderick, Peter P; Tenesa, Albert A; Smillie, Claire C; Grimes, Graeme G; Hayward, Caroline C; Campbell, Archie A; Porteous, David D; Deary, Ian J IJ; Harris, Sarah E SE; Northwood, Emma L EL; Barrett, Jennifer H JH; Smith, Gillian G; Wolf, Roland R; Forman, David D; Morreau, Hans H; Ruano, Dina D; Tops, Carli C; Wijnen, Juul J; Schrumpf, Melanie M; Boot, Arnoud A; Vasen, Hans F A HF; Hes, Frederik J FJ; van Wezel, Tom T; Franke, Andre A; Lieb, Wolgang W; Schafmayer, Clemens C; Hampe, Jochen J; Buch, Stephan S; Propping, Peter P; Hemminki, Kari K; Försti, Asta A; Westers, Helga H; Hofstra, Robert R; Pinheiro, Manuela M; Pinto, Carla C; Teixeira, Manuel M; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; Campbell, Harry H; Bishop, D Timothy DT; Tomlinson, Ian P M IP; Dunlop, Malcolm G MG; Houlston, Richard S RS
Publication Date: 2015-11-10

Variant appearance in text: rs2287679
PubMed Link: 26553438
Variant Present in the following documents:
  • srep16286-s1.pdf
View BVdb publication page



Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Niu, Tianhua T; Liu, Ning N; Yu, Xun X; Zhao, Ming M; Choi, Hyung Jin HJ; Leo, Paul J PJ; Brown, Matthew A MA; Zhang, Lei L; Pei, Yu-Fang YF; Shen, Hui H; He, Hao H; Fu, Xiaoying X; Lu, Shan S; Chen, Xiang-Ding XD; Tan, Li-Jun LJ; Yang, Tie-Lin TL; Guo, Yan Y; Cho, Nam H NH; Shen, Jie J; Guo, Yan-Fang YF; Nicholson, Geoffrey C GC; Prince, Richard L RL; Eisman, John A JA; Jones, Graeme G; Sambrook, Philip N PN; Tian, Qing Q; Zhu, Xue-Zhen XZ; Papasian, Christopher J CJ; Duncan, Emma L EL; Uitterlinden, André G AG; Shin, Chan Soo CS; Xiang, Shuanglin S; Deng, Hong-Wen HW
Publication Date: 2016-02

Variant appearance in text: rs2287679
PubMed Link: 26256109
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: GPATCH1: L476P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Genetics of Bone Mass in Childhood and Adolescence: Effects of Sex and Maturation Interactions.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Mitchell, Jonathan A JA; Chesi, Alessandra A; Elci, Okan O; McCormack, Shana E SE; Kalkwarf, Heidi J HJ; Lappe, Joan M JM; Gilsanz, Vicente V; Oberfield, Sharon E SE; Shepherd, John A JA; Kelly, Andrea A; Zemel, Babette S BS; Grant, Struan F A SF
Publication Date: 2015-09

Variant appearance in text: rs2287679
PubMed Link: 25762182
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: GPATCH1: L476P; rs2287679
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: GPATCH1: L476P; rs2287679
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2287679
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Nature Genetics
Estrada, Karol K; Styrkarsdottir, Unnur U; Evangelou, Evangelos E; Hsu, Yi-Hsiang YH; Duncan, Emma L EL; Ntzani, Evangelia E EE; Oei, Ling L; Albagha, Omar M E OM; Amin, Najaf N; Kemp, John P JP; Koller, Daniel L DL; Li, Guo G; Liu, Ching-Ti CT; Minster, Ryan L RL; Moayyeri, Alireza A; Vandenput, Liesbeth L; Willner, Dana D; Xiao, Su-Mei SM; Yerges-Armstrong, Laura M LM; Zheng, Hou-Feng HF; Alonso, Nerea N; Eriksson, Joel J; Kammerer, Candace M CM; Kaptoge, Stephen K SK; Leo, Paul J PJ; Thorleifsson, Gudmar G; Wilson, Scott G SG; Wilson, James F JF; Aalto, Ville V; Alen, Markku M; Aragaki, Aaron K AK; Aspelund, Thor T; Center, Jacqueline R JR; Dailiana, Zoe Z; Duggan, David J DJ; Garcia, Melissa M; Garcia-Giralt, Natàlia N; Giroux, Sylvie S; Hallmans, Göran G; Hocking, Lynne J LJ; Husted, Lise Bjerre LB; Jameson, Karen A KA; Khusainova, Rita R; Kim, Ghi Su GS; Kooperberg, Charles C; Koromila, Theodora T; Kruk, Marcin M; Laaksonen, Marika M; Lacroix, Andrea Z AZ; Lee, Seung Hun SH; Leung, Ping C PC; Lewis, Joshua R JR; Masi, Laura L; Mencej-Bedrac, Simona S; Nguyen, Tuan V TV; Nogues, Xavier X; Patel, Millan S MS; Prezelj, Janez J; Rose, Lynda M LM; Scollen, Serena S; Siggeirsdottir, Kristin K; Smith, Albert V AV; Svensson, Olle O; Trompet, Stella S; Trummer, Olivia O; van Schoor, Natasja M NM; Woo, Jean J; Zhu, Kun K; Balcells, Susana S; Brandi, Maria Luisa ML; Buckley, Brendan M BM; Cheng, Sulin S; Christiansen, Claus C; Cooper, Cyrus C; Dedoussis, George G; Ford, Ian I; Frost, Morten M; Goltzman, David D; González-Macías, Jesús J; Kähönen, Mika M; Karlsson, Magnus M; Khusnutdinova, Elza E; Koh, Jung-Min JM; Kollia, Panagoula P; Langdahl, Bente Lomholt BL; Leslie, William D WD; Lips, Paul P; Ljunggren, Östen Ö; Lorenc, Roman S RS; Marc, Janja J; Mellström, Dan D; Obermayer-Pietsch, Barbara B; Olmos, José M JM; Pettersson-Kymmer, Ulrika U; Reid, David M DM; Riancho, José A JA; Ridker, Paul M PM; Rousseau, François F; Slagboom, P Eline PE; Tang, Nelson L S NL; Urreizti, Roser R; Van Hul, Wim W; Viikari, Jorma J; Zarrabeitia, María T MT; Aulchenko, Yurii S YS; Castano-Betancourt, Martha M; Grundberg, Elin E; Herrera, Lizbeth L; Ingvarsson, Thorvaldur T; Johannsdottir, Hrefna H; Kwan, Tony T; Li, Rui R; Luben, Robert R; Medina-Gómez, Carolina C; Palsson, Stefan Th ST; Reppe, Sjur S; Rotter, Jerome I JI; Sigurdsson, Gunnar G; van Meurs, Joyce B J JB; Verlaan, Dominique D; Williams, Frances M K FM; Wood, Andrew R AR; Zhou, Yanhua Y; Gautvik, Kaare M KM; Pastinen, Tomi T; Raychaudhuri, Soumya S; Cauley, Jane A JA; Chasman, Daniel I DI; Clark, Graeme R GR; Cummings, Steven R SR; Danoy, Patrick P; Dennison, Elaine M EM; Eastell, Richard R; Eisman, John A JA; Gudnason, Vilmundur V; Hofman, Albert A; Jackson, Rebecca D RD; Jones, Graeme G; Jukema, J Wouter JW; Khaw, Kay-Tee KT; Lehtimäki, Terho T; Liu, Yongmei Y; Lorentzon, Mattias M; McCloskey, Eugene E; Mitchell, Braxton D BD; Nandakumar, Kannabiran K; Nicholson, Geoffrey C GC; Oostra, Ben A BA; Peacock, Munro M; Pols, Huibert A P HA; Prince, Richard L RL; Raitakari, Olli O; Reid, Ian R IR; Robbins, John J; Sambrook, Philip N PN; Sham, Pak Chung PC; Shuldiner, Alan R AR; Tylavsky, Frances A FA; van Duijn, Cornelia M CM; Wareham, Nick J NJ; Cupples, L Adrienne LA; Econs, Michael J MJ; Evans, David M DM; Harris, Tamara B TB; Kung, Annie Wai Chee AW; Psaty, Bruce M BM; Reeve, Jonathan J; Spector, Timothy D TD; Streeten, Elizabeth A EA; Zillikens, M Carola MC; Thorsteinsdottir, Unnur U; Ohlsson, Claes C; Karasik, David D; Richards, J Brent JB; Brown, Matthew A MA; Stefansson, Kari K; Uitterlinden, André G AG; Ralston, Stuart H SH; Ioannidis, John P A JP; Kiel, Douglas P DP; Rivadeneira, Fernando F
Publication Date: 2012-04-15

Variant appearance in text: rs2287679
PubMed Link: 22504420
Variant Present in the following documents:
  • NIHMS364577-supplement-1.pdf
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