Publications:

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: rs2277438

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

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: rs2277438

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: rs2277438

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2277438

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study.

Plos One

Mooney, Rachel E RE; Linden, Gerry J GJ; Winning, Lewis L; Linden, Katie K; Kee, Frank F; McKeown, Pascal P PP; Woodside, Jayne V JV; Patterson, Christopher C CC; McKay, Gareth J GJ

Publication Date: 2022

Variant appearance in text: rs2277438

PubMed Link: 35994463

Variant Present in the following documents:

• Main text
• pone.0273333.pdf

View BVdb publication page

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

Bmc Medical Genomics

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

Publication Date: 2022-07-21

Variant appearance in text: rs2277438

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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RANK/RANKL/OPG axis genes relation to cognitive impairment in children with transfusion-dependent thalassemia: a cross-sectional study.

Bmc Pediatrics

Mousa, Suzan Omar SO; Abd El-Hafez, Asmaa Hosni AH; Abu El-Ela, Mostafa Ahmed MA; Mourad, Mohamed Aboul-Fotouh MA; Saleh, Rasha Nady RN; Sayed, Samira Zain SZ

Publication Date: 2022-07-20

Variant appearance in text: rs2277438

PubMed Link: 35858838

Variant Present in the following documents:

• Main text
• 12887_2022_Article_3479.pdf

View BVdb publication page

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aMMP-8 Oral Fluid PoC Test in Relation to Oral and Systemic Diseases.

Frontiers In Oral Health

Sorsa, Timo T; Nwhator, Solomon Olusegun SO; Sakellari, Dimitra D; Grigoriadis, Andreas A; Umeizudike, Kehinde Adesola KA; Brandt, Ella E; Keskin, Mutlu M; Tervahartiala, Taina T; Pärnänen, Pirjo P; Gupta, Shipra S; Mohindra, Ritin R; Bostanci, Nagihan N; Buduneli, Nurcan N; Räisänen, Ismo Tapani IT

Publication Date: 2022

Variant appearance in text: rs2277438

PubMed Link: 35757444

Variant Present in the following documents:

• Main text
• froh-03-897115.pdf

View BVdb publication page

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Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss.

Frontiers In Medicine

Bouzid, Amal A; Chelly, Ameni A; Tekari, Adel A; Singh, Neha N; Hansdah, Kirtal K; Achour, Imen I; Ben Ayed, Ikhlas I; Jbeli, Fida F; Charfeddine, Ilhem I; Ramchander, Puppala Venkat PV; Hamoudi, Rifat R; Masmoudi, Saber S

Publication Date: 2022

Variant appearance in text: rs2277438

PubMed Link: 35510247

Variant Present in the following documents:

• Main text
• fmed-09-870244.pdf

View BVdb publication page

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Protective Effect of TNFRSF11A rs7239667 G > C Gene Polymorphism on Coronary Outcome of Kawasaki Disease in Southern Chinese Population.

Frontiers In Genetics

Zhang, Linyuan L; Lin, Kun K; Wang, Yishuai Y; Yu, Hongyan H; Li, Jinqing J; Fu, Lanyan L; Xu, Yufen Y; Wei, Bing B; Mai, Hanran H; Jiang, Zhiyong Z; Che, Di D; Pi, Lei L; Gu, Xiaoqiong X

Publication Date: 2021

Variant appearance in text: rs2277438

PubMed Link: 34484292

Variant Present in the following documents:

• Main text
• fgene-12-691282.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: TNFSF11: 220-94G>A; rs2277438

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Association of RANKL and OPG Gene Polymorphism in Arab Women with and without Osteoporosis.

Genes

Abdi, Saba S; Binbaz, Rawan A RA; Mohammed, Abdul Khader AK; Ansari, Mohammed G A MGA; Wani, Kaiser K; Amer, Osama E OE; Alnaami, Abdullah M AM; Aljohani, Naji N; Al-Daghri, Nasser M NM

Publication Date: 2021-01-29

Variant appearance in text: rs2277438

PubMed Link: 33572979

Variant Present in the following documents:

• Main text
• genes-12-00200.pdf

View BVdb publication page

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Association of Polymorphisms in RANK and RANKL Genes with Osteopenia in Arab Postmenopausal Women.

Disease Markers

Abdi, Saba S; Bukhari, Ihtisham I; Ansari, Mohammed G A MGA; BinBaz, Rawan A RA; Mohammed, Abdul Khader AK; Hussain, Syed Danish SD; Aljohani, Naji N; Al-Daghri, Nasser M NM

Publication Date: 2020

Variant appearance in text: rs2277438

PubMed Link: 33376557

Variant Present in the following documents:

• Main text
• DM2020-1285216.pdf

View BVdb publication page

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Polymorphisms within the RANK and RANKL Encoding Genes in Patients with Rheumatoid Arthritis: Association with Disease Progression and Effectiveness of the Biological Treatment.

Archivum Immunologiae Et Therapiae Experimentalis

Wielińska, Joanna J; Kolossa, Katarzyna K; Świerkot, Jerzy J; Dratwa, Marta M; Iwaszko, Milena M; Bugaj, Bartosz B; Wysoczańska, Barbara B; Chaszczewska-Markowska, Monika M; Jeka, Sławomir S; Bogunia-Kubik, Katarzyna K

Publication Date: 2020-08-19

Variant appearance in text: rs2277438

PubMed Link: 32815001

Variant Present in the following documents:

• Main text
• 5_2020_Article_590.pdf

View BVdb publication page

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Association of Genetic Polymorphisms in TNFRSF11 with the Progression of Genetic Susceptibility to Gastric Cancer.

Journal Of Oncology

Fan, Yu Y; Gu, Xuyu X; Pan, Huiwen H; Dai, Zhe Z; Zou, Chen C; Gao, Zhenjun Z; Zhang, Heng H

Publication Date: 2020

Variant appearance in text: rs2277438

PubMed Link: 32655638

Variant Present in the following documents:

• Main text
• JO2020-4103264.pdf

View BVdb publication page

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The Influence of TLR4, CD14, OPG, and RANKL Polymorphisms in Periodontitis: A Case-Control Study.

Mediators Of Inflammation

Zacarias, Joana Maira Valentini JMV; de Alencar, Josiane Bazzo JB; Tsuneto, Patrícia Yumeko PY; de Souza, Victor Hugo VH; Silva, Cléverson O CO; Visentainer, Jeane Eliete Laguila JEL; Sell, Ana Maria AM

Publication Date: 2019

Variant appearance in text: rs2277438

PubMed Link: 31281226

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association between RANK, RANKL and OPG gene polymorphisms and the risk of rheumatoid arthritis: a case-controlled study and meta-analysis.

Bioscience Reports

Yang, Haoyu H; Liu, Weixi W; Zhou, Xindie X; Rui, Huan H; Zhang, Hui H; Liu, Ruiping R

Publication Date: 2019-06-28

Variant appearance in text: rs2277438

PubMed Link: 31209146

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Genetic Variants of RANK, RANKL, and OPG with Ankylosing Spondylitis Clinical Features in Taiwanese.

Mediators Of Inflammation

Wang, Chin-Man CM; Tsai, Shu-Chun SC; Lin, Jing-Chi JC; Wu, Yeong-Jian Jan YJ; Wu, Jianming J; Chen, Ji-Yih JY

Publication Date: 2019

Variant appearance in text: rs2277438

PubMed Link: 31015798

Variant Present in the following documents:

• Main text
• MI2019-8029863.pdf

View BVdb publication page

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Current understanding of genetic polymorphisms as biomarkers for risk of biological complications in implantology.

Journal Of Clinical And Experimental Dentistry

Eguia Del Valle, Asier A; López-Vicente, José J; Martínez-Conde, Rafael R; Aguirre-Zorzano, Luis-Antonio LA

Publication Date: 2018-10

Variant appearance in text: rs2277438

PubMed Link: 30386510

Variant Present in the following documents:

• jced-10-e1029.pdf

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: rs2277438

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

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VDR and TNFSF11 polymorphisms are associated with osteoporosis in Thai patients.

Biomedical Reports

Techapatiphandee, Mananya M; Tammachote, Nattapol N; Tammachote, Rachaneekorn R; Wongkularb, Anna A; Yanatatsaneejit, Pattamawadee P

Publication Date: 2018-10

Variant appearance in text: rs2277438

PubMed Link: 30233789

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inflammatory mediator polymorphisms associate with initial periodontitis in adolescents.

Clinical And Experimental Dental Research

Heikkinen, Anna Maria AM; Kettunen, Kaisa K; Kovanen, Leena L; Haukka, Jari J; Elg, Jessica J; Husu, Heidi H; Tervahartiala, Taina T; Pussinen, Pirkko P; Meurman, Jukka J; Sorsa, Timo T

Publication Date: 2016-12

Variant appearance in text: rs2277438

PubMed Link: 29744169

Variant Present in the following documents:

• Main text

View BVdb publication page

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Periodontal Initial Radiological Findings of Genetically Predisposed Finnish Adolescents.

Journal Of Clinical And Diagnostic Research : Jcdr

Heikkinen, Anna Maria AM; Pakbaznejad Esmaeili, Elmira E; Kovanen, Leena L; Ruokonen, Hellevi H; Kettunen, Kaisa K; Haukka, Jari J; Tervahartiala, Taina T; Sorsa, Timo T

Publication Date: 2017-07

Variant appearance in text: rs2277438

PubMed Link: 28893037

Variant Present in the following documents:

• Main text

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: rs2277438

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Polymorphisms of Il-10 (-1082) and RANKL (-438) Genes and the Failure of Dental Implants.

International Journal Of Dentistry

Ribeiro, Rodrigo R; Melo, Rayanne R; Tortamano Neto, Pedro P; Vajgel, André A; Souza, Paulo Roberto Eleutério PR; Cimões, Renata R

Publication Date: 2017

Variant appearance in text: rs2277438

PubMed Link: 28348592

Variant Present in the following documents:

• Main text

View BVdb publication page

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Receptor activator of nuclear factor kappa-B ligand (RANKL) but not sclerostin or gene polymorphisms is related to joint destruction in early rheumatoid arthritis.

Clinical Rheumatology

Boman, Antonia A; Kokkonen, Heidi H; Ärlestig, Lisbeth L; Berglin, Ewa E; Rantapää-Dahlqvist, Solbritt S

Publication Date: 2017-05

Variant appearance in text: rs2277438

PubMed Link: 28190118

Variant Present in the following documents:

• Main text
• 10067_2017_Article_3570.pdf

View BVdb publication page

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Association between RANK, RANKL and OPG polymorphisms with ACPA and erosions in rheumatoid arthritis: results from a meta-analysis involving three French cohorts.

Rmd Open

Ruyssen-Witrand, Adeline A; Degboé, Yannick Y; Cantagrel, A A; Nigon, D D; Lukas, C C; Scaramuzzino, S S; Allanore, Y Y; Vittecoq, O O; Schaeverbeke, T T; Morel, J J; Sibilia, J J; Cambon-Thomsen, A A; Dieudé, P P; Constantin, A A

Publication Date: 2016

Variant appearance in text: rs2277438

PubMed Link: 27651922

Variant Present in the following documents:

• Main text
• rmdopen-2015-000226.pdf

View BVdb publication page

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The prognostic role of RANK SNP rs34945627 in breast cancer patients with bone metastases.

Oncotarget

Ferreira, Arlindo A; Alho, Irina I; Vendrell, Inês I; Melo, Marta M; Brás, Raquel R; Costa, Ana Lúcia AL; Sousa, Ana Rita AR; Mansinho, André A; Abreu, Catarina C; Pulido, Catarina C; Macedo, Daniela D; Pacheco, Teresa T; Correia, Lurdes L; Costa, Luis L; Casimiro, Sandra S

Publication Date: 2016-07-05

Variant appearance in text: rs2277438

PubMed Link: 27191503

Variant Present in the following documents:

• oncotarget-07-41380.pdf

View BVdb publication page

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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: rs2277438

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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RANKL and OPG Polymorphisms Are Associated with Aromatase Inhibitor-Related Musculoskeletal Adverse Events in Chinese Han Breast Cancer Patients.

Plos One

Wang, Jingxuan J; Lu, Kangping K; Song, Ying Y; Zhao, Shu S; Ma, Wenjie W; Xuan, Qijia Q; Tang, Dabei D; Zhao, Hong H; Liu, Lei L; Zhang, Qingyuan Q

Publication Date: 2015

Variant appearance in text: rs2277438

PubMed Link: 26218592

Variant Present in the following documents:

• Main text
• pone.0133964.pdf

View BVdb publication page

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RANK rs1805034 T>C polymorphism is associated with susceptibility of esophageal cancer in a Chinese population.

Plos One

Yin, Jun J; Wang, Liming L; Tang, Weifeng W; Wang, Xu X; Lv, Lu L; Shao, Aizhong A; Shi, Yijun Y; Ding, Guowen G; Chen, Suocheng S; Gu, Haiyong H

Publication Date: 2014

Variant appearance in text: rs2277438

PubMed Link: 25019155

Variant Present in the following documents:

• Main text
• pone.0101705.pdf

View BVdb publication page

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Genetic polymorphism of the OPG gene associated with breast cancer.

Bmc Cancer

Ney, Jasmin Teresa JT; Juhasz-Boess, Ingolf I; Gruenhage, Frank F; Graeber, Stefan S; Bohle, Rainer Maria RM; Pfreundschuh, Michael M; Solomayer, Erich Franz EF; Assmann, Gunter G

Publication Date: 2013-01-31

Variant appearance in text: rs2277438

PubMed Link: 23369128

Variant Present in the following documents:

• Main text
• 1471-2407-13-40.pdf

View BVdb publication page

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The genetic epidemiology of idiopathic scoliosis.

European Spine Journal : Official Publication Of The European Spine Society, The European Spinal Deformity Society, And The European Section Of The Cervical Spine Research Society

Gorman, Kristen Fay KF; Julien, Cédric C; Moreau, Alain A

Publication Date: 2012-10

Variant appearance in text: rs2277438

PubMed Link: 22695700

Variant Present in the following documents:

• Main text

View BVdb publication page

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"Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density".

Bmc Medical Genetics

Piedra, María M; García-Unzueta, María T MT; Berja, Ana A; Paule, Blanca B; Lavín, Bernardo A BA; Valero, Carmen C; Riancho, José A JA; Amado, José A JA

Publication Date: 2011-12-20

Variant appearance in text: rs2277438

PubMed Link: 22185226

Variant Present in the following documents:

• Main text
• 1471-2350-12-168.pdf

View BVdb publication page

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TNFRSF11A and TNFSF11 are associated with age at menarche and natural menopause in white women.

Menopause (New York, N.Y.)

Lu, Yan Y; Liu, Pengyuan P; Recker, Robert R RR; Deng, Hong-Wen HW; Dvornyk, Volodymyr V

Publication Date: 2010

Variant appearance in text: rs2277438

PubMed Link: 20531232

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between osteoprotegerin gene polymorphism and bone mineral density in patients with adolescent idiopathic scoliosis.

European Spine Journal : Official Publication Of The European Spine Society, The European Spinal Deformity Society, And The European Section Of The Cervical Spine Research Society

Eun, Il-Soo IS; Park, Weon Wook WW; Suh, Kuen Tak KT; Kim, Jeung Il JI; Lee, Jung Sub JS

Publication Date: 2009-12

Variant appearance in text: rs2277438

PubMed Link: 19705167

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association analyses of RANKL/RANK/OPG gene polymorphisms with femoral neck compression strength index variation in Caucasians.

Calcified Tissue International

Dong, Shan-Shan SS; Liu, Xiao-Gang XG; Chen, Yuan Y; Guo, Yan Y; Wang, Liang L; Zhao, Jian J; Xiong, Dong-Hai DH; Xu, Xiang-Hong XH; Recker, Robert R RR; Deng, Hong-Wen HW

Publication Date: 2009-08

Variant appearance in text: rs2277438

PubMed Link: 19458885

Variant Present in the following documents:

• Main text

View BVdb publication page

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