Publications:

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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: BMP2: S37A

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review.

Frontiers In Genetics

Couto, Ana Rita AR; Parreira, Bruna B; Power, Deborah M DM; Pinheiro, Luís L; Madruga Dias, João J; Novofastovski, Irina I; Eshed, Iris I; Sarzi-Puttini, Piercarlo P; Pappone, Nicola N; Atzeni, Fabiola F; Verlaan, Jorrit-Jan JJ; Kuperus, Jonneke J; Bieber, Amir A; Ambrosino, Pasquale P; Kiefer, David D; Khan, Muhammad Asim MA; Mader, Reuven R; Baraliakos, Xenofon X; Bruges-Armas, Jácome J

Publication Date: 2022

Variant appearance in text: rs2273073

PubMed Link: 36276944

Variant Present in the following documents:

• Main text
• fgene-13-987867.pdf

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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: BMP2: S37A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

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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: BMP2: S37A; rs2273073

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

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

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: BMP2: S37A; rs2273073

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

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[Association between root abnormalities and related pathogenic genes in patients with generalized aggressive periodontitis].

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal Of Peking University. Health Sciences

Liu, J J; Wang, X E XE; Lv, D D; Qiao, M M; Zhang, L L; Meng, H X HX; Xu, L L; Mao, M X MX

Publication Date: 2020-12-09

Variant appearance in text: rs2273073

PubMed Link: 33550331

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.

Journal Of Clinical Medicine

Pope, Daniel H DH; Davies, Benjamin M BM; Mowforth, Oliver D OD; Bowden, A Ramsay AR; Kotter, Mark R N MRN

Publication Date: 2020-01-20

Variant appearance in text: BMP2: Ser37Ala

PubMed Link: 31968564

Variant Present in the following documents:

• Main text
• jcm-09-00282.pdf

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Closer to Nature Through Dynamic Culture Systems.

Cells

Wong, Tzyy-Yue TY; Chang, Sheng-Nan SN; Jhong, Rong-Chang RC; Tseng, Ching-Jiunn CJ; Sun, Gwo-Ching GC; Cheng, Pei-Wen PW

Publication Date: 2019-08-21

Variant appearance in text: rs2273073

PubMed Link: 31438519

Variant Present in the following documents:

• Main text
• cells-08-00942.pdf

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: BMP2: 109T>G; Ser37Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: BMP2: 109T>G; Ser37Ala; rs2273073

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche.

Elife

Salazar, Valerie S VS; Capelo, Luciane P LP; Cantù, Claudio C; Zimmerli, Dario D; Gosalia, Nehal N; Pregizer, Steven S; Cox, Karen K; Ohte, Satoshi S; Feigenson, Marina M; Gamer, Laura L; Nyman, Jeffry S JS; Carey, David J DJ; Economides, Aris A; Basler, Konrad K; Rosen, Vicki V

Publication Date: 2019-02-08

Variant appearance in text: BMP2: Ser37Ala

PubMed Link: 30735122

Variant Present in the following documents:

• Main text

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The Pathogenesis of Ossification of the Posterior Longitudinal Ligament.

Aging And Disease

Yan, Liang L; Gao, Rui R; Liu, Yang Y; He, Baorong B; Lv, Shemin S; Hao, Dingjun D

Publication Date: 2017-10

Variant appearance in text: BMP2: Ser37Ala; rs2273073

PubMed Link: 28966802

Variant Present in the following documents:

• Main text
• ad-8-5-570.pdf

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Polymorphisms in BMP2/BMP4, with estimates of mean lung dose, predict radiation pneumonitis among patients receiving definitive radiotherapy for non-small cell lung cancer.

Oncotarget

Yang, Ju J; Xu, Ting T; Gomez, Daniel R DR; Yuan, Xianglin X; Nguyen, Quynh-Nhu QN; Jeter, Melenda M; Song, Yipeng Y; Hahn, Stephen S; Liao, Zhongxing Z

Publication Date: 2017-06-27

Variant appearance in text: rs2273073

PubMed Link: 28574846

Variant Present in the following documents:

• oncotarget-08-43080.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BMP2: 109T>G; Ser37Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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TGF-β Family Signaling in Mesenchymal Differentiation.

Cold Spring Harbor Perspectives In Biology

Grafe, Ingo I; Alexander, Stefanie S; Peterson, Jonathan R JR; Snider, Taylor Nicholas TN; Levi, Benjamin B; Lee, Brendan B; Mishina, Yuji Y

Publication Date: 2018-05-01

Variant appearance in text: BMP2: Ser37Ala

PubMed Link: 28507020

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bone Morphogenetic Protein-Based Therapeutic Approaches.

Cold Spring Harbor Perspectives In Biology

Lowery, Jonathan W JW; Rosen, Vicki V

Publication Date: 2018-04-02

Variant appearance in text: BMP2: 109T>G; Ser37Ala; rs2273073

PubMed Link: 28389444

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.

Scientific Reports

Chen, Xin X; Guo, Jun J; Cai, Tao T; Zhang, Fengshan F; Pan, Shengfa S; Zhang, Li L; Wang, Shaobo S; Zhou, Feifei F; Diao, Yinze Y; Zhao, Yanbin Y; Chen, Zhen Z; Liu, Xiaoguang X; Chen, Zhongqiang Z; Liu, Zhongjun Z; Sun, Yu Y; Du, Jie J

Publication Date: 2016-06-01

Variant appearance in text: BMP2: S37A

PubMed Link: 27246988

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study.

Bmc Medical Genomics

Mullany, Lila E LE; Herrick, Jennifer S JS; Wolff, Roger K RK; Buas, Matthew F MF; Slattery, Martha L ML

Publication Date: 2016-04-23

Variant appearance in text: rs2273073

PubMed Link: 27107574

Variant Present in the following documents:

• Main text
• 12920_2016_Article_181.pdf

View BVdb publication page

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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: rs2273073

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.

Scientific Reports

Timofeeva, Maria N MN; Kinnersley, Ben B; Farrington, Susan M SM; Whiffin, Nicola N; Palles, Claire C; Svinti, Victoria V; Lloyd, Amy A; Gorman, Maggie M; Ooi, Li-Yin LY; Hosking, Fay F; Barclay, Ella E; Zgaga, Lina L; Dobbins, Sara S; Martin, Lynn L; Theodoratou, Evropi E; Broderick, Peter P; Tenesa, Albert A; Smillie, Claire C; Grimes, Graeme G; Hayward, Caroline C; Campbell, Archie A; Porteous, David D; Deary, Ian J IJ; Harris, Sarah E SE; Northwood, Emma L EL; Barrett, Jennifer H JH; Smith, Gillian G; Wolf, Roland R; Forman, David D; Morreau, Hans H; Ruano, Dina D; Tops, Carli C; Wijnen, Juul J; Schrumpf, Melanie M; Boot, Arnoud A; Vasen, Hans F A HF; Hes, Frederik J FJ; van Wezel, Tom T; Franke, Andre A; Lieb, Wolgang W; Schafmayer, Clemens C; Hampe, Jochen J; Buch, Stephan S; Propping, Peter P; Hemminki, Kari K; Försti, Asta A; Westers, Helga H; Hofstra, Robert R; Pinheiro, Manuela M; Pinto, Carla C; Teixeira, Manuel M; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; Campbell, Harry H; Bishop, D Timothy DT; Tomlinson, Ian P M IP; Dunlop, Malcolm G MG; Houlston, Richard S RS

Publication Date: 2015-11-10

Variant appearance in text: rs2273073

PubMed Link: 26553438

Variant Present in the following documents:

• srep16286-s1.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BMP2: S37A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Uniaxial cyclic stretch promotes osteogenic differentiation and synthesis of BMP2 in the C3H10T1/2 cells with BMP2 gene variant of rs2273073 (T/G).

Plos One

Li, Jia-mou JM; Zhang, Yao Y; Ren, Yuan Y; Liu, Bao-ge BG; Lin, Xin X; Yang, Jiang J; Zhao, Hu-cheng HC; Wang, Ya-jie YJ; Song, Lei L

Publication Date: 2014

Variant appearance in text: rs2273073

PubMed Link: 25191703

Variant Present in the following documents:

• Main text
• pone.0106598.pdf

View BVdb publication page

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Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Otology & Neurotology : Official Publication Of The American Otological Society, American Neurotology Society [And] European Academy Of Otology And Neurotology

Ealy, Megan M; Meyer, Nicole C NC; Corchado, Johnny Cruz JC; Schrauwen, Isabelle I; Bress, Andreas A; Pfister, Markus M; Van Camp, Guy G; Smith, Richard J H RJ

Publication Date: 2014-03

Variant appearance in text: rs2273073

PubMed Link: 24492129

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.

Bmc Endocrine Disorders

Breitfeld, Jana J; Martens, Susanne S; Klammt, Jürgen J; Schlicke, Marina M; Pfäffle, Roland R; Krause, Kerstin K; Weidle, Kerstin K; Schleinitz, Dorit D; Stumvoll, Michael M; Führer, Dagmar D; Kovacs, Peter P; Tönjes, Anke A

Publication Date: 2013-12-01

Variant appearance in text: BMP2: Ser37Ala; rs2273073

PubMed Link: 24289245

Variant Present in the following documents:

• Main text
• 1472-6823-13-56.pdf
• 1472-6823-13-56-S2.xls, sheet 1

View BVdb publication page

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A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Nature Genetics

Justice, Cristina M CM; Yagnik, Garima G; Kim, Yoonhee Y; Peter, Inga I; Jabs, Ethylin Wang EW; Erazo, Monica M; Ye, Xiaoqian X; Ainehsazan, Edmond E; Shi, Lisong L; Cunningham, Michael L ML; Kimonis, Virginia V; Roscioli, Tony T; Wall, Steven A SA; Wilkie, Andrew O M AO; Stoler, Joan J; Richtsmeier, Joan T JT; Heuzé, Yann Y; Sanchez-Lara, Pedro A PA; Buckley, Michael F MF; Druschel, Charlotte M CM; Mills, James L JL; Caggana, Michele M; Romitti, Paul A PA; Kay, Denise M DM; Senders, Craig C; Taub, Peter J PJ; Klein, Ophir D OD; Boggan, James J; Zwienenberg-Lee, Marike M; Naydenov, Cyrill C; Kim, Jinoh J; Wilson, Alexander F AF; Boyadjiev, Simeon A SA

Publication Date: 2012-12

Variant appearance in text: BMP2: 109T>G; S37A; rs2273073

PubMed Link: 23160099

Variant Present in the following documents:

• Main text

View BVdb publication page

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Coding polymorphisms of bone morphogenetic protein 2 contribute to the development of childhood IgA nephropathy.

Experimental And Therapeutic Medicine

Suh, Jin-Soon JS; Hahn, Won-Ho WH; Lee, Jong Seok JS; Park, Hae Jeong HJ; Kim, Mi-Ja MJ; Kang, Sung Wook SW; Chung, Joo-Ho JH; Cho, Byoung-Soo BS

Publication Date: 2011-03

Variant appearance in text: rs2273073

PubMed Link: 22977507

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of association of bone morphogenetic protein 2 gene haplotypes with bone mineral density, bone loss, or risk of fractures in men.

Journal Of Osteoporosis

Varanasi, Satya S SS; Tuck, Stephen P SP; Mastana, Sarabjit S SS; Dennison, Elaine E; Cooper, Cyrus C; Vila, Josephine J; Francis, Roger M RM; Datta, Harish K HK

Publication Date: 2011

Variant appearance in text: BMP2: Ser37Ala

PubMed Link: 22013543

Variant Present in the following documents:

• Main text
• JOSTEO2011-243465.pdf

View BVdb publication page

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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: BMP2: Ser37Ala

PubMed Link: 20948561

Variant Present in the following documents:

• Main text
• IJHT2010-394579.pdf

View BVdb publication page

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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: BMP2: Ser37Ala; rs2273073

PubMed Link: 20357209

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: BMP2: S37A; rs2273073

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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Molecular genetic studies of gene identification for osteoporosis: a 2004 update.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Liu, Yong-Jun YJ; Shen, Hui H; Xiao, Peng P; Xiong, Dong-Hai DH; Li, Li-Hua LH; Recker, Robert R RR; Deng, Hong-Wen HW

Publication Date: 2006-10

Variant appearance in text: BMP2: Ser37Ala

PubMed Link: 16995806

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between a variation in the phosphodiesterase 4D gene and bone mineral density.

Bmc Medical Genetics

Reneland, Richard H RH; Mah, Steven S; Kammerer, Stefan S; Hoyal, Carolyn R CR; Marnellos, George G; Wilson, Scott G SG; Sambrook, Philip N PN; Spector, Tim D TD; Nelson, Matthew R MR; Braun, Andreas A

Publication Date: 2005-03-07

Variant appearance in text: BMP2: Ser37Ala

PubMed Link: 15752431

Variant Present in the following documents:

• Main text

View BVdb publication page

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Linkage of osteoporosis to chromosome 20p12 and association to BMP2.

Plos Biology

Styrkarsdottir, Unnur U; Cazier, Jean-Baptiste JB; Kong, Augustine A; Rolfsson, Ottar O; Larsen, Helene H; Bjarnadottir, Emma E; Johannsdottir, Vala D VD; Sigurdardottir, Margret S MS; Bagger, Yu Y; Christiansen, Claus C; Reynisdottir, Inga I; Grant, Struan F A SF; Jonasson, Kristjan K; Frigge, Michael L ML; Gulcher, Jeffrey R JR; Sigurdsson, Gunnar G; Stefansson, Kari K

Publication Date: 2003-12

Variant appearance in text: BMP2: Ser37Ala

PubMed Link: 14691541

Variant Present in the following documents:

• Main text
• pbio.0000069.pdf

View BVdb publication page

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