Publications:

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The Current Strategy in Hormonal and Non-Hormonal Therapies in Menopause-A Comprehensive Review.

Life (Basel, Switzerland)

Pop, Anca Lucia AL; Nasui, Bogdana Adriana BA; Bors, Roxana Georgiana RG; Penes, Ovidiu Nicolae ON; Prada, Ana Gabriela AG; Clotea, Eliza E; Crisan, Simona S; Cobelschi, Calin C; Mehedintu, Claudia C; Carstoiu, Monica Mihaela MM; Varlas, Valentin Nicolae VN

Publication Date: 2023-02-26

Variant appearance in text: rs2297480

PubMed Link: 36983805

Variant Present in the following documents:

• Main text
• life-13-00649.pdf

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Genome-wide association study of osteonecrosis of the jaw in Danish patients receiving antiresorptive therapy for osteoporosis: A case-control study.

Bone Reports

Pedersen, Alma B AB; Nørholt, Sven E SE; Rejnmark, Lars L; Langdal, Bente B; Starch-Jensen, Thomas T; Sørensen, Henrik T HT

Publication Date: 2023-06

Variant appearance in text: rs2297480

PubMed Link: 36582190

Variant Present in the following documents:

• Main text
• main.pdf

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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: rs2297480

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Pharmacogenetics of Osteoporosis: A Pathway Analysis of the Genetic Influence on the Effects of Antiresorptive Drugs.

Pharmaceutics

Del Real, Álvaro Á; Valero, Carmen C; Olmos, José M JM; Hernández, Jose L JL; Riancho, José A JA

Publication Date: 2022-04-02

Variant appearance in text: rs2297480

PubMed Link: 35456610

Variant Present in the following documents:

• Main text
• pharmaceutics-14-00776.pdf

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Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances

Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF

Publication Date: 2022-08-23

Variant appearance in text: rs2297480

PubMed Link: 35381074

Variant Present in the following documents:

• advancesADV2021005648-suppl1.pdf

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Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

Genes

Garcia-Giralt, Natalia N; Roca-Ayats, Neus N; Abril, Josep F JF; Martinez-Gil, Nuria N; Ovejero, Diana D; Castañeda, Santos S; Nogues, Xavier X; Grinberg, Daniel D; Balcells, Susanna S; Rabionet, Raquel R

Publication Date: 2022-01-14

Variant appearance in text: rs2297480

PubMed Link: 35052486

Variant Present in the following documents:

• genes-13-00146.pdf

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Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

Genes

Garcia-Giralt, Natalia N; Roca-Ayats, Neus N; Abril, Josep F JF; Martinez-Gil, Nuria N; Ovejero, Diana D; Castañeda, Santos S; Nogues, Xavier X; Grinberg, Daniel D; Balcells, Susanna S; Rabionet, Raquel R

Publication Date: 2022-01-14

Variant appearance in text: rs2297480

PubMed Link: 35052486

Variant Present in the following documents:

• genes-13-00146.pdf

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Medication-Related Osteonecrosis of the Jaw (MRONJ): Are Antiresorptive Drugs the Main Culprits or Only Accomplices? The Triggering Role of Vitamin D Deficiency.

Nutrients

Dalle Carbonare, Luca L; Mottes, Monica M; Valenti, Maria Teresa MT

Publication Date: 2021-02-08

Variant appearance in text: rs2297480

PubMed Link: 33567797

Variant Present in the following documents:

• Main text
• nutrients-13-00561.pdf

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Genome diversity in Ukraine.

Gigascience

Oleksyk, Taras K TK; Wolfsberger, Walter W WW; Weber, Alexandra M AM; Shchubelka, Khrystyna K; Oleksyk, Olga T OT; Levchuk, Olga O; Patrus, Alla A; Lazar, Nelya N; Castro-Marquez, Stephanie O SO; Hasynets, Yaroslava Y; Boldyzhar, Patricia P; Neymet, Mikhailo M; Urbanovych, Alina A; Stakhovska, Viktoriya V; Malyar, Kateryna K; Chervyakova, Svitlana S; Podoroha, Olena O; Kovalchuk, Natalia N; Rodriguez-Flores, Juan L JL; Zhou, Weichen W; Medley, Sarah S; Battistuzzi, Fabia F; Liu, Ryan R; Hou, Yong Y; Chen, Siru S; Yang, Huanming H; Yeager, Meredith M; Dean, Michael M; Mills, Ryan E RE; Smolanka, Volodymyr V

Publication Date: 2021-01-13

Variant appearance in text: rs2297480

PubMed Link: 33438729

Variant Present in the following documents:

• Main text
• giaa159_giga-d-20-00230_revision_2.pdf
• giaa159_giga-d-20-00230_revision_1.pdf
• giaa159_giga-d-20-00230_original_submission.pdf
• giaa159.pdf

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Zoledronic Acid Is Not Equally Potent on Osteoclasts Generated From Different Individuals.

Jbmr Plus

Møller, Anaïs M J AMJ; Delaisse, Jean-Marie JM; Olesen, Jacob B JB; Bechmann, Troels T; Madsen, Jonna S JS; Søe, Kent K

Publication Date: 2020-11

Variant appearance in text: rs2297480

PubMed Link: 33210064

Variant Present in the following documents:

• Main text

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Genomic Medicine: Lessons Learned From Monogenic and Complex Bone Disorders.

Frontiers In Endocrinology

Trajanoska, Katerina K; Rivadeneira, Fernando F

Publication Date: 2020

Variant appearance in text: rs2297480

PubMed Link: 33162933

Variant Present in the following documents:

• fendo-11-556610.pdf

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs2297480

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Unique insights from ClinicalTrials.gov by mining protein mutations and RSids in addition to applying the Human Phenotype Ontology.

Plos One

Alag, Shray S

Publication Date: 2020

Variant appearance in text: rs2297480

PubMed Link: 32459809

Variant Present in the following documents:

• Main text
• pone.0233438.pdf

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Mitigating osteonecrosis of the jaw (ONJ) through preventive dental care and understanding of risk factors.

Bone Research

Wan, Jason T JT; Sheeley, Douglas M DM; Somerman, Martha J MJ; Lee, Janice S JS

Publication Date: 2020

Variant appearance in text: rs2297480

PubMed Link: 32195012

Variant Present in the following documents:

• Main text
• 41413_2020_Article_88.pdf

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Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.

Plos One

Ahsan, Tamim T; Urmi, Nusrat Jahan NJ; Sajib, Abu Ashfaqur AA

Publication Date: 2020

Variant appearance in text: rs2297480

PubMed Link: 31971968

Variant Present in the following documents:

• Main text
• pone.0228000.pdf

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Polymorphisms of FDPS, LRP5, SOST and VKORC1 genes and their relation with osteoporosis in postmenopausal Romanian women.

Plos One

Ciubean, Alina Deniza AD; Ungur, Rodica Ana RA; Irsay, Laszlo L; Ciortea, Viorela Mihaela VM; Borda, Ileana Monica IM; Dogaru, Gabriela Bombonica GB; Trifa, Adrian Pavel AP; Vesa, Stefan Cristian SC; Buzoianu, Anca Dana AD

Publication Date: 2019

Variant appearance in text: rs2297480

PubMed Link: 31774873

Variant Present in the following documents:

• Main text
• pone.0225776.pdf

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Bone metabolism genes variation and response to bisphosphonate treatment in women with postmenopausal osteoporosis.

Plos One

Marozik, Pavel P; Alekna, Vidmantas V; Rudenko, Ema E; Tamulaitiene, Marija M; Rudenka, Alena A; Mastaviciute, Asta A; Samokhovec, Volha V; Cernovas, Andrejus A; Kobets, Katsiaryna K; Mosse, Irma I

Publication Date: 2019

Variant appearance in text: rs2297480

PubMed Link: 31437227

Variant Present in the following documents:

• Main text
• pone.0221511.pdf

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A comprehensive overview on osteoporosis and its risk factors.

Therapeutics And Clinical Risk Management

Pouresmaeili, Farkhondeh F; Kamalidehghan, Behnam B; Kamarehei, Maryam M; Goh, Yong Meng YM

Publication Date: 2018

Variant appearance in text: rs2297480

PubMed Link: 30464484

Variant Present in the following documents:

• tcrm-14-2029.pdf

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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: FDPS: -1-98T>G; rs2297480

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs2297480

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.

Zdravstveno Varstvo

Bratanic, Nina N; Dzodan, Bojana B; Trebusak Podkrajsek, Katarina K; Bertok, Sara S; Ostanek, Barbara B; Marc, Janja J; Battelino, Tadej T; Avbelj Stefanija, Magdalena M

Publication Date: 2015-06

Variant appearance in text: rs2297480

PubMed Link: 27646918

Variant Present in the following documents:

• Main text
• sjph-54-02-119.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: rs2297480

PubMed Link: 26549847

Variant Present in the following documents:

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

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs2297480

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

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Osteoporosis - a current view of pharmacological prevention and treatment.

Drug Design, Development And Therapy

Das, Subhajit S; Crockett, Julie C JC

Publication Date: 2013

Variant appearance in text: rs2297480

PubMed Link: 23807838

Variant Present in the following documents:

• Main text
• dddt-7-435.pdf

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Pharmacogenetics of osteoporosis.

F1000 Biology Reports

Marini, Francesca F; Brandi, Maria Luisa ML

Publication Date: 2010-08-19

Variant appearance in text: rs2297480

PubMed Link: 21173854

Variant Present in the following documents:

• Main text

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Genetic determinants of osteoporosis: common bases to cardiovascular diseases?

International Journal Of Hypertension

Marini, Francesca F; Brandi, Maria Luisa ML

Publication Date: 2010-03-25

Variant appearance in text: rs2297480

PubMed Link: 20948561

Variant Present in the following documents:

• Main text
• IJHT2010-394579.pdf

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Genetic polymorphism of geranylgeranyl diphosphate synthase (GGSP1) predicts bone density response to bisphosphonate therapy in Korean women.

Yonsei Medical Journal

Choi, Hyung Jin HJ; Choi, Ji Yeob JY; Cho, Sun Wook SW; Kang, Daehee D; Han, Ki Ok KO; Kim, Sang Wan SW; Kim, Seong Yeon SY; Chung, Yoon-Sok YS; Shin, Chan Soo CS

Publication Date: 2010-03

Variant appearance in text: rs2297480

PubMed Link: 20191015

Variant Present in the following documents:

• Main text
• ymj-51-231.pdf

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Bisphosphonates pathway.

Pharmacogenetics And Genomics

Gong, Li L; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2011-01

Variant appearance in text: rs2297480

PubMed Link: 20023594

Variant Present in the following documents:

• Main text

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Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse.

Genomics

Xiong, Qing Q; Jiao, Yan Y; Hasty, Karen A KA; Canale, S Terry ST; Stuart, John M JM; Beamer, Wesley G WG; Deng, Hong-Wen HW; Baylink, David D; Gu, Weikuan W

Publication Date: 2009-05

Variant appearance in text: rs2297480

PubMed Link: 19150398

Variant Present in the following documents:

• Main text

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Farnesyl diphosphate synthase: a novel genotype association with bone mineral density in elderly women.

Maturitas

Levy, Matthew E ME; Parker, Robert A RA; Ferrell, Robert E RE; Zmuda, Joseph M JM; Greenspan, Susan L SL

Publication Date: 2007-07-20

Variant appearance in text: rs2297480

PubMed Link: 17368768

Variant Present in the following documents:

• Main text

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