Publications:

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A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: AHSG: M248T; rs4917

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

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: AHSG: M248T

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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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: AHSG: 743T>C; Met248Thr

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

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Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.

Scientific Reports

Deming, Yuetiva Y; Xia, Jian J; Cai, Yefei Y; Lord, Jenny J; Del-Aguila, Jorge L JL; Fernandez, Maria Victoria MV; Carrell, David D; Black, Kathleen K; Budde, John J; Ma, ShengMei S; Saef, Benjamin B; Howells, Bill B; Bertelsen, Sarah S; Bailey, Matthew M; Ridge, Perry G PG; , ; Holtzman, David D; Morris, John C JC; Bales, Kelly K; Pickering, Eve H EH; Lee, Jin-Moo JM; Heitsch, Laura L; Kauwe, John J; Goate, Alison A; Piccio, Laura L; Cruchaga, Carlos C

Publication Date: 2016-01-04

Variant appearance in text: rs4917

PubMed Link: 36647296

Variant Present in the following documents:

• srep18092.pdf

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: AHSG: M248T; rs4917

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study.

Journal Of Clinical Medicine

Tavernier, Lisse J M LJM; Vanpoucke, Thomas T; Schrauwen, Isabelle I; Van Camp, Guy G; Fransen, Erik E

Publication Date: 2022-11-26

Variant appearance in text: rs4917

PubMed Link: 36498562

Variant Present in the following documents:

• Main text
• jcm-11-06978.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: rs4917

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: AHSG: M248T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Serum Calcification Propensity Represents a Good Biomarker of Vascular Calcification: A Systematic Review.

Toxins

Pluquet, Maxime M; Kamel, Said S; Choukroun, Gabriel G; Liabeuf, Sophie S; Laville, Solène M SM

Publication Date: 2022-09-15

Variant appearance in text: rs4917

PubMed Link: 36136575

Variant Present in the following documents:

• Main text
• toxins-14-00637.pdf

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: AHSG: M248T; rs4917

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

View BVdb publication page

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Personalized Dietary Recommendations Based on Lipid-Related Genetic Variants: A Systematic Review.

Frontiers In Nutrition

Pérez-Beltrán, Yolanda E YE; Rivera-Iñiguez, Ingrid I; Gonzalez-Becerra, Karina K; Pérez-Naitoh, Naomi N; Tovar, Juscelino J; Sáyago-Ayerdi, Sonia G SG; Mendivil, Edgar J EJ

Publication Date: 2022

Variant appearance in text: rs4917

PubMed Link: 35387194

Variant Present in the following documents:

• Main text
• fnut-09-830283.pdf

View BVdb publication page

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Genetic Determinants of Serum Calcification Propensity and Cardiovascular Outcomes in the General Population.

Frontiers In Cardiovascular Medicine

de Haan, Amber A; Ahmadizar, Fariba F; van der Most, Peter J PJ; Thio, Chris H L CHL; Kamali, Zoha Z; Ani, Alireza A; Ghanbari, Mohsen M; Chaker, Layal L; van Meurs, Joyce J; Ikram, M Kamran MK; van Goor, Harry H; Bakker, Stephan J L SJL; van der Harst, Pim P; Snieder, Harold H; Kavousi, Maryam M; Pasch, Andreas A; Eijgelsheim, Mark M; de Borst, Martin H MH

Publication Date: 2021

Variant appearance in text: rs4917

PubMed Link: 35097025

Variant Present in the following documents:

• Main text
• fcvm-08-809717.pdf

View BVdb publication page

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Fetuin-A and risk of diabetes-related vascular complications: a prospective study.

Cardiovascular Diabetology

Birukov, Anna A; Polemiti, Elli E; Jäger, Susanne S; Stefan, Norbert N; Schulze, Matthias B MB

Publication Date: 2022-01-08

Variant appearance in text: rs4917

PubMed Link: 34998417

Variant Present in the following documents:

• Main text
• 12933_2021_Article_1439.pdf

View BVdb publication page

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Fetuin-A and risk of diabetes-related vascular complications: a prospective study.

Cardiovascular Diabetology

Birukov, Anna A; Polemiti, Elli E; Jäger, Susanne S; Stefan, Norbert N; Schulze, Matthias B MB

Publication Date: 2022-01-08

Variant appearance in text: rs4917

PubMed Link: 34998417

Variant Present in the following documents:

• Main text
• 12933_2021_Article_1439.pdf

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: AHSG: M248T

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: 2021-10-19

Variant appearance in text: AHSG: M248T; rs4917

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

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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: AHSG: M248T; rs4917

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 9

View BVdb publication page

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Genetic Risk Factors for the Development of COVID-19 Coronavirus Infection.

Russian Journal Of Genetics

Glotov, O S OS; Chernov, A N AN; Scherbak, S G SG; Baranov, V S VS

Publication Date: 2021

Variant appearance in text: AHSG: 743T>C; Met248Thr; rs4917

PubMed Link: 34483599

Variant Present in the following documents:

• Main text
• 11177_2021_Article_1482.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: AHSG: 743T>C; M248T; rs4917

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphisms as multi-biomarkers in severe acute respiratory syndrome (SARS) by coronavirus infection: A systematic review of candidate gene association studies.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Dos Santos, Ana Caroline Melo ACM; Dos Santos, Bárbara Rayssa Correia BRC; Dos Santos, Bruna Brandão BB; de Moura, Edilson Leite EL; Ferreira, Jean Moisés JM; Dos Santos, Luana Karen Correia LKC; Oliveira, Susana Paiva SP; Dias, Renise Bastos Farias RBF; Pereira E Silva, Aline Cristine AC; de Farias, Karol Fireman KF; de Souza Figueiredo, Elaine Virgínia Martins EVM

Publication Date: 2021-09

Variant appearance in text: rs4917

PubMed Link: 33933633

Variant Present in the following documents:

• Main text

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: AHSG: Met248Thr; rs4917

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: AHSG: 743T>C; M248T; rs4917

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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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: AHSG: M248T; rs4917

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Fetuin-A and Fetuin-B in Non-Alcoholic Fatty Liver Disease: A Meta-Analysis and Meta-Regression.

International Journal Of Environmental Research And Public Health

Pan, Xiongfeng X; Kaminga, Atipatsa C AC; Chen, Jihua J; Luo, Miyang M; Luo, Jiayou J

Publication Date: 2020-04-15

Variant appearance in text: rs4917

PubMed Link: 32326594

Variant Present in the following documents:

• Main text
• ijerph-17-02735.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs4917

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The impact of the AHSG genetic polymorphism on the risk of ischemic stroke: a case-control study.

International Journal Of Clinical And Experimental Pathology

Li, Guixin G; Zhu, Linhao L; Bai, Mei M; Wang, Li L; Yuan, Dongya D; He, Yongjun Y; Jin, Tianbo T

Publication Date: 2018

Variant appearance in text: rs4917

PubMed Link: 31949587

Variant Present in the following documents:

• Main text

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: AHSG: 743T>C; Met248Thr; rs4917

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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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: AHSG: M248T; rs4917

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
• 41598_2019_50876_MOESM1_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: AHSG: M248T; rs4917

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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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: AHSG: M248T; rs4917

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: AHSG: 743T>C; rs4917

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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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: AHSG: M248T; rs4917

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: AHSG: M248T; rs4917

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: AHSG: 743T>C; Met248Thr; rs4917

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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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: AHSG: M248T; rs4917

PubMed Link: 30030262

Variant Present in the following documents:

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

View BVdb publication page

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Circulating Fetuin-A and Risk of Type 2 Diabetes: A Mendelian Randomization Analysis.

Diabetes

Kröger, Janine J; Meidtner, Karina K; Stefan, Norbert N; Guevara, Marcela M; Kerrison, Nicola D ND; Ardanaz, Eva E; Aune, Dagfinn D; Boeing, Heiner H; Dorronsoro, Miren M; Dow, Courtney C; Fagherazzi, Guy G; Franks, Paul W PW; Freisling, Heinz H; Gunter, Marc J MJ; Huerta, José María JM; Kaaks, Rudolf R; Key, Timothy J TJ; Khaw, Kay Tee KT; Krogh, Vittorio V; Kühn, Tilman T; Mancini, Francesca Romana FR; Mattiello, Amalia A; Nilsson, Peter M PM; Olsen, Anja A; Overvad, Kim K; Palli, Domenico D; Quirós, J Ramón JR; Rolandsson, Olov O; Sacerdote, Carlotta C; Sala, Núria N; Salamanca-Fernández, Elena E; Sluijs, Ivonne I; Spijkerman, Annemieke M W AMW; Tjonneland, Anne A; Tsilidis, Konstantinos K KK; Tumino, Rosario R; van der Schouw, Yvonne T YT; Forouhi, Nita G NG; Sharp, Stephen J SJ; Langenberg, Claudia C; Riboli, Elio E; Schulze, Matthias B MB; Wareham, Nicholas J NJ

Publication Date: 2018-06

Variant appearance in text: rs4917

PubMed Link: 29523632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-Wide Association Study of Seed Dormancy and the Genomic Consequences of Improvement Footprints in Rice (Oryza sativa L.).

Frontiers In Plant Science

Lu, Qing Q; Niu, Xiaojun X; Zhang, Mengchen M; Wang, Caihong C; Xu, Qun Q; Feng, Yue Y; Yang, Yaolong Y; Wang, Shan S; Yuan, Xiaoping X; Yu, Hanyong H; Wang, Yiping Y; Chen, Xiaoping X; Liang, Xuanqiang X; Wei, Xinghua X

Publication Date: 2017

Variant appearance in text: rs4917

PubMed Link: 29354150

Variant Present in the following documents:

• Main text
• fpls-08-02213.pdf

View BVdb publication page

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Plasma proteomics reveals coagulation, inflammation, and metabolic shifts in H-type hypertension patients with and without acute ischemic stroke.

Oncotarget

Zhou, Feng F; Zhou, Lv L; Guo, Tie T; Wang, Nianzhen N; Hao, Haizhen H; Zhou, Yanhui Y; Yu, Dan D

Publication Date: 2017-11-21

Variant appearance in text: rs4917

PubMed Link: 29245986

Variant Present in the following documents:

• Main text
• oncotarget-08-100384.pdf

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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: AHSG: M248T; rs4917

PubMed Link: 29221171

Variant Present in the following documents:

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

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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: rs4917

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Detection of genetic loci associated with plasma fetuin-A: a meta-analysis of genome-wide association studies from the CHARGE Consortium.

Human Molecular Genetics

Jensen, Majken K MK; Jensen, Richard A RA; Mukamal, Kenneth J KJ; Guo, Xiuqing X; Yao, Jie J; Sun, Qi Q; Cornelis, Marilyn M; Liu, Yongmei Y; Chen, Ming-Huei MH; Kizer, Jorge R JR; Djoussé, Luc L; Siscovick, David S DS; Psaty, Bruce M BM; Zmuda, Joseph M JM; Rotter, Jerome I JI; Garcia, Melissa M; Harris, Tamara T; Chen, Ida I; Goodarzi, Mark O MO; Nalls, Michael A MA; Keller, Margaux M; Arnold, Alice M AM; Newman, Anne B AB; Hoogeveen, Ron C RC; Rexrode, Kathryn M KM; Rimm, Eric B EB; Hu, Frank B FB; Ramachandran, Vasan S VS; Katz, Ronit R; Pankow, James S JS; Ix, Joachim H JH

Publication Date: 2017-06-01

Variant appearance in text: rs4917

PubMed Link: 28379451

Variant Present in the following documents:

• Main text

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Analysis of Whole Exome Sequencing with Cardiometabolic Traits Using Family-Based Linkage and Association in the IRAS Family Study.

Annals Of Human Genetics

Tabb, Keri L KL; Hellwege, Jacklyn N JN; Palmer, Nicholette D ND; Dimitrov, Latchezar L; Sajuthi, Satria S; Taylor, Kent D KD; Ng, Maggie C Y MC; Hawkins, Gregory A GA; Chen, Yii-der Ida YI; Brown, W Mark WM; McWilliams, David D; Williams, Adrienne A; Lorenzo, Carlos C; Norris, Jill M JM; Long, Jirong J; Rotter, Jerome I JI; Curran, Joanne E JE; Blangero, John J; Wagenknecht, Lynne E LE; Langefeld, Carl D CD; Bowden, Donald W DW

Publication Date: 2017-03

Variant appearance in text: rs4917

PubMed Link: 28067407

Variant Present in the following documents:

• Main text

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: AHSG: M248T; rs4917

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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Human Fetuin-A Rs4918 Polymorphism and its Association with Obesity in Healthy Persons and in Patients with Myocardial Infarction in Two Hungarian Cohorts.

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

Temesszentandrási, György G; Vörös, Krisztián K; Márkus, Bernadett B; Böröcz, Zoltán Z; Kaszás, Edit E; Prohászka, Zoltán Z; Falus, András A; Cseh, Károly K; Kalabay, László L

Publication Date: 2016-08-04

Variant appearance in text: rs4917

PubMed Link: 27487851

Variant Present in the following documents:

• Main text
• medscimonit-22-2742.pdf

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: AHSG: M248T

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.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: AHSG: M248T

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 3

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

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4917

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Allelic Imbalance of mRNA Associated with α2-HS Glycoprotein (Fetuin-A) Polymorphism.

Disease Markers

Inaoka, Yoshihiko Y; Osawa, Motoki M; Mukasa, Nahoko N; Miyashita, Keiko K; Satoh, Fumiko F; Kakimoto, Yu Y

Publication Date: 2015

Variant appearance in text: rs4917

PubMed Link: 26549924

Variant Present in the following documents:

• Main text
• DM2015-865053.pdf

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: AHSG: M248T; rs4917

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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