Publications:

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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: XRCC4: 921T>G; Ser307=; rs1056503

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Association of Polymorphisms in NHEJ Pathway Genes with HIV-1 Infection and AIDS Progression in a Northern Chinese MSM Population.

Disease Markers

Zhang, Xuelong X; Wang, Xi X; Mo, Han H; Hu, Yuanting Y; Yang, Yi Y; Yang, Xun X; Wu, Jiawei J; Liu, Bangquan B; Xu, Lidan L; Sun, Haiming H; Jia, Xueyuan X; Wang, Ping P; Wang, Kaili K; Sun, Wenjing W; Fu, Songbin S; Qiao, Yuandong Y

Publication Date: 2022

Variant appearance in text: rs1056503

PubMed Link: 36312587

Variant Present in the following documents:

• DM2022-5126867.pdf

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs1056503

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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Polymorphisms Within DNA Double-Strand Breaks Repair-Related Genes Contribute to Structural Chromosome Abnormality in Recurrent Pregnancy Loss.

Frontiers In Genetics

Cheng, Zhenbo Z; Cheng, Dehua D; Li, Jiancheng J; Guo, Lihuang L; Zhang, Wei W; Zhang, Conghui C; Liu, Yangxu Y; Huang, Yue Y; Xu, Keqian K

Publication Date: 2021

Variant appearance in text: rs1056503

PubMed Link: 35003222

Variant Present in the following documents:

• Main text
• fgene-12-787718.pdf

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs1056503

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

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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: rs1056503

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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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: XRCC4: Ser307Ser; rs1056503

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: XRCC4: 921T>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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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: XRCC4: 921T>G; rs1056503

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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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: rs1056503

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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A Decade of GWAS Results in Lung Cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Bossé, Yohan Y; Amos, Christopher I CI

Publication Date: 2018-04

Variant appearance in text: rs1056503

PubMed Link: 28615365

Variant Present in the following documents:

• Main text

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The relationship between polymorphisms of XRCC5 genes with astrocytoma prognosis in the Han Chinese population.

Oncotarget

He, Xue X; Zhu, Xikai X; Li, Lei L; Zhang, Jiayi J; Wu, Ruipeng R; Zhang, Yuan Y; Kang, Longli L; Yuan, Dongya D; Jin, Tianbo T

Publication Date: 2016-12-20

Variant appearance in text: rs1056503

PubMed Link: 27852033

Variant Present in the following documents:

• Main text
• oncotarget-07-85283.pdf

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Genetic variant in DNA repair gene GTF2H4 is associated with lung cancer risk: a large-scale analysis of six published GWAS datasets in the TRICL consortium.

Carcinogenesis

Wang, Meilin M; Liu, Hongliang H; Liu, Zhensheng Z; Yi, Xiaohua X; Bickeboller, Heike H; Hung, Rayjean J RJ; Brennan, Paul P; Landi, Maria Teresa MT; Caporaso, Neil N; Christiani, David C DC; Doherty, Jennifer Anne JA; , ; Amos, Christopher I CI; Wei, Qingyi Q

Publication Date: 2016-09

Variant appearance in text: rs1056503

PubMed Link: 27288692

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.

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

Yang, Bo B; Heng, Liang L; Du, Shuli S; Yang, Hua H; Jin, Tianbo T; Lang, Hongjun H; Li, Shanqu S

Publication Date: 2015-07-09

Variant appearance in text: rs1056503

PubMed Link: 26156397

Variant Present in the following documents:

• Main text
• medscimonit-21-1983.pdf

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Association of single nucleotide polymorphisms of DNA repair gene and susceptibility to pancreatic cancer.

International Journal Of Clinical And Experimental Pathology

Shen, Quan Q; Tian, Yuwei Y; Li, Ke K; Jiang, Qingfeng Q; Xue, Huanzhou H; Yang, Shujuan S

Publication Date: 2015

Variant appearance in text: rs1056503

PubMed Link: 26045837

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: XRCC4: S307S

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs the DNA damage response via dysregulated nuclear localization.

Oncotarget

He, Min M; Hu, Xin X; Chen, Li L; Cao, A-Yong AY; Yu, Ke-Da KD; Shi, Ting-Yan TY; Kuang, Xia-Ying XY; Shi, Wen-Biao WB; Ling, Hong H; Li, Shan S; Qiao, Feng F; Yao, Ling L; Wei, Qingyi Q; Di, Gen-Hong GH; Shao, Zhi-Ming ZM

Publication Date: 2014-12-15

Variant appearance in text: XRCC4: 921T>G; rs1056503

PubMed Link: 25360583

Variant Present in the following documents:

• Main text
• oncotarget-05-12218-s001.pdf
• oncotarget-05-12218.pdf

View BVdb publication page

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Polymorphisms in DNA repair genes, hair dye use, and the risk of non-Hodgkin lymphoma.

Cancer Causes & Control : Ccc

Guo, Huan H; Bassig, Bryan A BA; Lan, Qing Q; Zhu, Yong Y; Zhang, Yawei Y; Holford, Theodore R TR; Leaderer, Brian B; Boyle, Peter P; Qin, Qin Q; Zhu, Cairong C; Li, Ni N; Rothman, Nathaniel N; Zheng, Tongzhang T

Publication Date: 2014-10

Variant appearance in text: N/A

PubMed Link: 25178586

Variant Present in the following documents:

View BVdb publication page

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Polymorphisms in DNA repair genes and MDR1 and the risk for non-Hodgkin lymphoma.

International Journal Of Molecular Sciences

Kim, Hee Nam HN; Kim, Nan Young NY; Yu, Li L; Kim, Yeo-Kyeoung YK; Lee, Il-Kwon IK; Yang, Deok-Hwan DH; Lee, Je-Jung JJ; Shin, Min-Ho MH; Park, Kyeong-Soo KS; Choi, Jin-Su JS; Kim, Hyeoung-Joon HJ

Publication Date: 2014-04-21

Variant appearance in text: N/A

PubMed Link: 24756092

Variant Present in the following documents:

View BVdb publication page

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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: N/A

PubMed Link: 24219164

Variant Present in the following documents:

View BVdb publication page

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Association of XRCC3 and XRCC4 gene polymorphisms, family history of cancer and tobacco smoking with non-small-cell lung cancer in a Chinese population: a case-control study.

Journal Of Human Genetics

He, Fei F; Chang, Shen-Chih SC; Wallar, Gina Maria GM; Zhang, Zuo-Feng ZF; Cai, Lin L

Publication Date: 2013-10

Variant appearance in text: rs1056503

PubMed Link: 23924833

Variant Present in the following documents:

• Main text

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Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

American Journal Of Hematology

Chen, Yingtai Y; Zheng, Tongzhang T; Lan, Qing Q; Kim, Christopher C; Qin, Qin Q; Foss, Francine F; Chen, Xuezhong X; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Wang, Chengfeng C; Dai, Min M; Liu, Zhenjiang Z; Ma, Shuangge S; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2013-07

Variant appearance in text: rs1056503

PubMed Link: 23619945

Variant Present in the following documents:

• Main text

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Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Jiao, Jie J; Zheng, Tongzhang T; Lan, Qing Q; Chen, Yingtai Y; Deng, Qian Q; Bi, Xiaofeng X; Kim, Christopher C; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Ba, Yue Y; Xia, Zhaolin Z; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2012-11

Variant appearance in text: rs1056503

PubMed Link: 22430443

Variant Present in the following documents:

• Main text

View BVdb publication page

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An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs.

Dna Repair

Yu, Hongping H; Zhao, Hui H; Wang, Li-E LE; Han, Younghun Y; Chen, Wei V WV; Amos, Christopher I CI; Rafnar, Thorunn T; Sulem, Patrick P; Stefansson, Kari K; Landi, Maria Teresa MT; Caporaso, Neil N; Albanes, Demetrius D; Thun, Michael M; McKay, James D JD; Brennan, Paul P; Wang, Yufei Y; Houlston, Richard S RS; Spitz, Margaret R MR; Wei, Qingyi Q

Publication Date: 2011-04-03

Variant appearance in text: rs1056503

PubMed Link: 21296624

Variant Present in the following documents:

• Main text

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Inherited predisposition to glioma.

Neuro-Oncology

Kyritsis, Athanassios P AP; Bondy, Melissa L ML; Rao, Jasti S JS; Sioka, Chrissa C

Publication Date: 2010-01

Variant appearance in text: rs1056503

PubMed Link: 20150373

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA

Publication Date: 2009-03-15

Variant appearance in text: rs1056503

PubMed Link: 19276285

Variant Present in the following documents:

• Main text

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Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.

Leukemia

Wang, S S SS; Maurer, M J MJ; Morton, L M LM; Habermann, T M TM; Davis, S S; Cozen, W W; Lynch, C F CF; Severson, R K RK; Rothman, N N; Chanock, S J SJ; Hartge, P P; Cerhan, J R JR

Publication Date: 2009-03

Variant appearance in text: rs1056503

PubMed Link: 18830263

Variant Present in the following documents:

• Main text
• nihms278004.pdf

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1056503

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

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Influence of polymorphisms at loci encoding DNA repair proteins on cancer susceptibility and G2 chromosomal radiosensitivity.

Environmental And Molecular Mutagenesis

Wilding, Craig S CS; Curwen, Gillian B GB; Tawn, E Janet EJ; Sheng, Xiaohua X; Winther, Jeanette F JF; Chakraborty, Ranajit R; Boice, John D JD

Publication Date: 2007-01

Variant appearance in text: N/A

PubMed Link: 17177211

Variant Present in the following documents:

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Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

Blood

Hill, Deirdre A DA; Wang, Sophia S SS; Cerhan, James R JR; Davis, Scott S; Cozen, Wendy W; Severson, Richard K RK; Hartge, Patricia P; Wacholder, Sholom S; Yeager, Meredith M; Chanock, Stephen J SJ; Rothman, Nathaniel N

Publication Date: 2006-11-01

Variant appearance in text: rs1056503

PubMed Link: 16857995

Variant Present in the following documents:

• Main text

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Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.

Bmc Cancer

Allen-Brady, Kristina K; Camp, Nicola J NJ

Publication Date: 2005-08-09

Variant appearance in text: rs1056503

PubMed Link: 16091150

Variant Present in the following documents:

• Main text
• 1471-2407-5-99.pdf

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