Publications:

---

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: rs1038304

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: CCDC170: 1711-3403A>G; rs1038304

PubMed Link: 36269797

Variant Present in the following documents:

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

View BVdb publication page

---

Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population.

Scientific Reports

Zhang, Jiaqiang J; Cai, Qinlei Q; Chen, Wangxue W; Huang, Maoxue M; Guan, Renyang R; Jin, Tianbo T

Publication Date: 2022-04-12

Variant appearance in text: rs1038304

PubMed Link: 35414641

Variant Present in the following documents:

• Main text
• 41598_2022_Article_9755.pdf

View BVdb publication page

---

ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome.

Endocrine Connections

Scalco, Renata R; Trarbach, Ericka E; Albuquerque, Edoarda Vasco de Albuquerque EVA; Homma, Thais Kataoka TK; Inoue-Lima, Thais Hissami TH; Nishi, Mirian Yumie MY; Mendonca, Berenice Bilharinho BB; Jorge, Alexander A L AAL

Publication Date: 2019-11

Variant appearance in text: rs1038304

PubMed Link: 31671406

Variant Present in the following documents:

• Main text
• EC-19-0398.pdf

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: rs1038304

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

View BVdb publication page

---

Identification of novel genetic loci for osteoporosis and/or rheumatoid arthritis using cFDR approach.

Plos One

Zhou, Rou R; Lin, Xu X; Li, Ding-You DY; Wang, Xia-Fang XF; Greenbaum, Jonathan J; Chen, Yuan-Cheng YC; Zeng, Chun-Ping CP; Lu, Jun-Min JM; Ao, Zeng-Xing ZX; Peng, Lin-Ping LP; Bai, Xiao Chun XC; Shen, Jie J; Deng, Hong-Wen HW

Publication Date: 2017

Variant appearance in text: rs1038304

PubMed Link: 28854271

Variant Present in the following documents:

• Main text
• pone.0183842.pdf

View BVdb publication page

---

Enhanced Identification of Potential Pleiotropic Genetic Variants for Bone Mineral Density and Breast Cancer.

Calcified Tissue International

Peng, Cheng C; Lou, Hui-Ling HL; Liu, Feng F; Shen, Jie J; Lin, Xu X; Zeng, Chun-Ping CP; Long, Ji-Rong JR; Su, Kuan-Jui KJ; Zhang, Lan L; Greenbaum, Jonathan J; Deng, Wei-Feng WF; Li, Yu-Mei YM; Deng, Hong-Wen HW

Publication Date: 2017-11

Variant appearance in text: rs1038304

PubMed Link: 28761973

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic sharing with coronary artery disease identifies potential novel loci for bone mineral density.

Bone

Peng, Cheng C; Shen, Jie J; Lin, Xu X; Su, Kuan-Jui KJ; Greenbaum, Jonathan J; Zhu, Wei W; Lou, Hui-Ling HL; Liu, Feng F; Zeng, Chun-Ping CP; Deng, Wei-Feng WF; Deng, Hong-Wen HW

Publication Date: 2017-10

Variant appearance in text: rs1038304

PubMed Link: 28651948

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.

Human Molecular Genetics

Mullin, Benjamin H BH; Zhao, Jing Hua JH; Brown, Suzanne J SJ; Perry, John R B JRB; Luan, Jian'an J; Zheng, Hou-Feng HF; Langenberg, Claudia C; Dudbridge, Frank F; Scott, Robert R; Wareham, Nick J NJ; Spector, Tim D TD; Richards, J Brent JB; Walsh, John P JP; Wilson, Scott G SG

Publication Date: 2017-07-15

Variant appearance in text: rs1038304

PubMed Link: 28472463

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An exploratory study of host polymorphisms in genes that clinically characterize breast cancer tumors and pretreatment cognitive performance in breast cancer survivors.

Breast Cancer (Dove Medical Press)

Koleck, Theresa A TA; Bender, Catherine M CM; Clark, Beth Z BZ; Ryan, Christopher M CM; Ghotkar, Puja P; Brufsky, Adam A; McAuliffe, Priscilla F PF; Rastogi, Priya P; Sereika, Susan M SM; Conley, Yvette P YP

Publication Date: 2017

Variant appearance in text: rs1038304

PubMed Link: 28424560

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Functional relevance for associations between osteoporosis and genetic variants.

Plos One

Liu, Kun K; Tan, Li-Jun LJ; Wang, Peng P; Chen, Xiang-Ding XD; Zhu, Li-Hua LH; Zeng, Qin Q; Hu, Yuan Y; Deng, Hong-Wen HW

Publication Date: 2017

Variant appearance in text: rs1038304

PubMed Link: 28369098

Variant Present in the following documents:

• Main text
• pone.0174808.pdf

View BVdb publication page

---

A Candidate Gene Association Study of Bone Mineral Density in an Iranian Population.

Frontiers In Endocrinology

Dastgheib, Seyed Alireza SA; Gartland, Alison A; Tabei, Seyed Mohammad Bagher SM; Omrani, Gholamhossein Ranjbar GR; Teare, Marion Dawn MD

Publication Date: 2016

Variant appearance in text: rs1038304

PubMed Link: 27833587

Variant Present in the following documents:

• Main text
• fendo-07-00141.pdf

View BVdb publication page

---

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Plos One

Mahmood, A S M Ashique AS; Wu, Tsung-Jung TJ; Mazumder, Raja R; Vijay-Shanker, K K

Publication Date: 2016

Variant appearance in text: rs1038304

PubMed Link: 27073839

Variant Present in the following documents:

• pone.0152725.s003.xlsx, sheet 1

View BVdb publication page

---

Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.

Bmc Genomics

Mullin, Benjamin H BH; Walsh, John P JP; Zheng, Hou-Feng HF; Brown, Suzanne J SJ; Surdulescu, Gabriela L GL; Curtis, Charles C; Breen, Gerome G; Dudbridge, Frank F; Richards, J Brent JB; Spector, Tim D TD; Wilson, Scott G SG

Publication Date: 2016-02-25

Variant appearance in text: rs1038304

PubMed Link: 26911590

Variant Present in the following documents:

• Main text
• 12864_2016_Article_2481.pdf

View BVdb publication page

---

Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population.

Breast Cancer Research : Bcr

Wang, Yanru Y; He, Yisha Y; Qin, Zhenzhen Z; Jiang, Yue Y; Jin, Guangfu G; Ma, Hongxia H; Dai, Juncheng J; Chen, Jiaping J; Hu, Zhibin Z; Guan, Xiaoxiang X; Shen, Hongbing H

Publication Date: 2014-08-14

Variant appearance in text: rs1038304

PubMed Link: 25116933

Variant Present in the following documents:

• Main text
• 13058_2014_Article_422.pdf

View BVdb publication page

---

Association between estrogen receptor α gene (ESR1) PvuII (C/T) and XbaI (A/G) polymorphisms and hip fracture risk: evidence from a meta-analysis.

Plos One

Tang, Li L; Cheng, Guo-Lin GL; Xu, Zhong-Hua ZH

Publication Date: 2013

Variant appearance in text: rs1038304

PubMed Link: 24482673

Variant Present in the following documents:

• Main text

View BVdb publication page

---

4q22.1 contributes to bone mineral density and osteoporosis susceptibility in postmenopausal women of Chinese Han population.

Plos One

Yang, Haojie H; Zhang, Bo B; Zhu, Jialin J; Liu, Dan D; Guan, Fanglin F; He, Xijing X

Publication Date: 2013

Variant appearance in text: rs1038304

PubMed Link: 24278256

Variant Present in the following documents:

• Main text
• pone.0080165.pdf

View BVdb publication page

---

Impact of common variation in bone-related genes on type 2 diabetes and related traits.

Diabetes

Billings, Liana K LK; Hsu, Yi-Hsiang YH; Ackerman, Rachel J RJ; Dupuis, Josée J; Voight, Benjamin F BF; Rasmussen-Torvik, Laura J LJ; Hercberg, Serge S; Lathrop, Mark M; Barnes, Daniel D; Langenberg, Claudia C; Hui, Jennie J; Fu, Mao M; Bouatia-Naji, Nabila N; Lecoeur, Cecile C; An, Ping P; Magnusson, Patrik K PK; Surakka, Ida I; Ripatti, Samuli S; Christiansen, Lene L; Dalgård, Christine C; Folkersen, Lasse L; Grundberg, Elin E; , ; , ; , ; , ; , ; Eriksson, Per P; Kaprio, Jaakko J; Ohm Kyvik, Kirsten K; Pedersen, Nancy L NL; Borecki, Ingrid B IB; Province, Michael A MA; Balkau, Beverley B; Froguel, Philippe P; Shuldiner, Alan R AR; Palmer, Lyle J LJ; Wareham, Nick N; Meneton, Pierre P; Johnson, Toby T; Pankow, James S JS; Karasik, David D; Meigs, James B JB; Kiel, Douglas P DP; Florez, Jose C JC

Publication Date: 2012-08

Variant appearance in text: rs1038304

PubMed Link: 22698912

Variant Present in the following documents:

• 2176.pdf

View BVdb publication page

---

The ESR1 (6q25) locus is associated with calcaneal ultrasound parameters and radial volumetric bone mineral density in European men.

Plos One

Holliday, Kate L KL; Pye, Stephen R SR; Thomson, Wendy W; Boonen, Steven S; Borghs, Herman H; Vanderschueren, Dirk D; Gielen, Evelien E; Huhtaniemi, Ilpo T IT; Adams, Judith E JE; Ward, Kate A KA; Bartfai, Gyorgy G; Casanueva, Felipe F; Finn, Joseph D JD; Forti, Gianni G; Giwercman, Aleksander A; Han, Thang S TS; Kula, Krzysztof K; Labrie, Fernand F; Lean, Michael E J ME; Pendleton, Neil N; Punab, Margus M; Wu, Frederick C W FC; O'Neill, Terence W TW; ,

Publication Date: 2011

Variant appearance in text: rs1038304

PubMed Link: 21760950

Variant Present in the following documents:

• Main text
• pone.0022037.pdf

View BVdb publication page

---

European bone mineral density loci are also associated with BMD in East-Asian populations.

Plos One

Styrkarsdottir, Unnur U; Halldorsson, Bjarni V BV; Gudbjartsson, Daniel F DF; Tang, Nelson L S NL; Koh, Jung-Min JM; Xiao, Su-mei SM; Kwok, Timothy C Y TC; Kim, Ghi Su GS; Chan, Juliana C N JC; Cherny, Stacey S; Lee, Seung Hun SH; Kwok, Anthony A; Ho, Suzanne S; Gretarsdottir, Solveig S; Kostic, Jelena Pop JP; Palsson, Stefan Th ST; Sigurdsson, Gunnar G; Sham, Pak C PC; Kim, Beom-Jun BJ; Kung, Annie W C AW; Kim, Shin-Yoon SY; Woo, Jean J; Leung, Ping-C PC; Kong, Augustine A; Thorsteinsdottir, Unnur U; Stefansson, Kari K

Publication Date: 2010-10-07

Variant appearance in text: rs1038304

PubMed Link: 20949110

Variant Present in the following documents:

• Main text
• pone.0013217.pdf

View BVdb publication page

---

OPG and RANK polymorphisms are both associated with cortical bone mineral density: findings from a metaanalysis of the Avon longitudinal study of parents and children and gothenburg osteoporosis and obesity determinants cohorts.

The Journal Of Clinical Endocrinology And Metabolism

Paternoster, L L; Ohlsson, C C; Sayers, A A; Vandenput, L L; Lorentzon, M M; Evans, D M DM; Tobias, J H JH

Publication Date: 2010-08

Variant appearance in text: rs1038304

PubMed Link: 20534768

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular genetic studies of gene identification for osteoporosis: the 2009 update.

Endocrine Reviews

Xu, Xiang-Hong XH; Dong, Shan-Shan SS; Guo, Yan Y; Yang, Tie-Lin TL; Lei, Shu-Feng SF; Papasian, Christopher J CJ; Zhao, Ming M; Deng, Hong-Wen HW

Publication Date: 2010-08

Variant appearance in text: rs1038304

PubMed Link: 20357209

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.

Plos Genetics

Guo, Yan Y; Tan, Li-Jun LJ; Lei, Shu-Feng SF; Yang, Tie-Lin TL; Chen, Xiang-Ding XD; Zhang, Feng F; Chen, Yuan Y; Pan, Feng F; Yan, Han H; Liu, Xiaogang X; Tian, Qing Q; Zhang, Zhi-Xin ZX; Zhou, Qi Q; Qiu, Chuan C; Dong, Shan-Shan SS; Xu, Xiang-Hong XH; Guo, Yan-Fang YF; Zhu, Xue-Zhen XZ; Liu, Shan-Lin SL; Wang, Xiang-Li XL; Li, Xi X; Luo, Yi Y; Zhang, Li-Shu LS; Li, Meng M; Wang, Jin-Tang JT; Wen, Ting T; Drees, Betty B; Hamilton, James J; Papasian, Christopher J CJ; Recker, Robert R RR; Song, Xiao-Ping XP; Cheng, Jing J; Deng, Hong-Wen HW

Publication Date: 2010-01-08

Variant appearance in text: rs1038304

PubMed Link: 20072603

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.

Human Molecular Genetics

Timpson, Nicholas J NJ; Tobias, Jon H JH; Richards, J Brent JB; Soranzo, Nicole N; Duncan, Emma L EL; Sims, Anne-Marie AM; Whittaker, Pamela P; Kumanduri, Vasudev V; Zhai, Guangju G; Glaser, Beate B; Eisman, John J; Jones, Graeme G; Nicholson, Geoff G; Prince, Richard R; Seeman, Ego E; Spector, Tim D TD; Brown, Matthew A MA; Peltonen, Leena L; Smith, George Davey GD; Deloukas, Panos P; Evans, David M DM

Publication Date: 2009-04-15

Variant appearance in text: rs1038304

PubMed Link: 19181680

Variant Present in the following documents:

• Main text
• ddp052.pdf

View BVdb publication page

---