Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs235768

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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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: rs235768

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs235768

PubMed Link: 36276944

Variant Present in the following documents:

• Main text
• fgene-13-987867.pdf

View BVdb publication page

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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: N/A

PubMed Link: 36241656

Variant Present in the following documents:

View BVdb publication page

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The association of polymorphisms in BMP2/MYO1H and skeletal Class II div.1 maxillary and mandibular dimensions. A preliminary 'report.

Saudi Journal Of Biological Sciences

Hussein, Ali S AS; Porntaveetus, Thantrira T; Abid, Mushriq M

Publication Date: 2022-10

Variant appearance in text: rs235768

PubMed Link: 36039325

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Mutation Detection and Functional Analysis of MSX1, PAX9, AXIN2, and BMP in Nonsyndromic Congenital Missing Teeth Based on Intelligent Image Detection.

Biomed Research International

Yao, Xueqin X; Zhang, Cheng C; Gao, Peipei P; Meng, Zixuan Z; Hao, Yonghong Y; Yan, Jingjing J; Yao, Wenbo W

Publication Date: 2022

Variant appearance in text: rs235768

PubMed Link: 35647187

Variant Present in the following documents:

• BMRI2022-6217399.pdf

View BVdb publication page

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Single Nucleotide Polymorphisms in Runt-related Transcription Factor 2 and Bone Morphogenetic Protein 2 Impact on Their Maxillary and Mandibular Gene Expression in Different Craniofacial Patterns - A Comparative Study.

Annals Of Maxillofacial Surgery

Olsson, Bernardo B; da Silva, Mateus José MJ; Lago, Camila C; Calixto, Robson Diego RD; Ramazzotto, Lucas Alexandre LA; Barbosa Rebellato, Nelson Luis NL; Kirschneck, Christian C; Garcia Paula-Silva, Francisco Wanderley FW; Küchler, Erika Calvano EC; Scariot, Rafaela R

Publication Date: 2021

Variant appearance in text: rs235768

PubMed Link: 35265489

Variant Present in the following documents:

• AMS-11-222.pdf

View BVdb publication page

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In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.

Journal Of Cardiovascular And Thoracic Research

Abbasi, Shiva S; Mohsen-Pour, Neda N; Naderi, Niloofar N; Rahimi, Shahin S; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2021

Variant appearance in text: rs235768

PubMed Link: 35047139

Variant Present in the following documents:

• Main text
• jcvtr-13-336.pdf

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Exploring the Association Between Genetic Polymorphisms in Genes Involved in Craniofacial Development and Isolated Tooth Agenesis.

Frontiers In Physiology

Küchler, Erika Calvano EC; Reis, Caio Luiz Bitencourt CLB; Silva-Sousa, Alice Corrêa AC; Marañón-Vásquez, Guido Artemio GA; Matsumoto, Mirian Aiko Nakane MAN; Sebastiani, Aline A; Scariot, Rafaela R; Paddenberg, Eva E; Proff, Peter P; Kirschneck, Christian C

Publication Date: 2021

Variant appearance in text: rs235768

PubMed Link: 34539446

Variant Present in the following documents:

• Main text
• fphys-12-723105.pdf

View BVdb publication page

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Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans.

Scientific Reports

Silva-Sousa, Alice Corrêa AC; Marañón-Vásquez, Guido Artemio GA; Stuani, Maria Bernadete Sasso MBS; Proff, Peter P; Andrades, Kesly Mary Ribeiro KMR; Baratto-Filho, Flares F; Matsumoto, Mírian Aiko Nakane MAN; Paddenberg, Eva E; Küchler, Erika Calvano EC; Kirschneck, Christian C

Publication Date: 2021-06-16

Variant appearance in text: rs235768

PubMed Link: 34135450

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92169.pdf

View BVdb publication page

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Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

American Journal Of Medical Genetics. Part A

Ewing, Adam D AD; Cheetham, Seth W SW; McGill, James J JJ; Sharkey, Michael M; Walker, Rick R; West, Jennifer A JA; West, Malcolm J MJ; Summers, Kim M KM

Publication Date: 2021-07

Variant appearance in text: rs235768

PubMed Link: 33960642

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip.

Indian Journal Of Orthopaedics

Gumus, Evren E; Temiz, Ebru E; Sarikaya, Baran B; Yuksekdag, Ozgur O; Sipahioglu, Serkan S; Gonel, Ataman A

Publication Date: 2021-02

Variant appearance in text: rs235768

PubMed Link: 33569111

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs235768

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs235768

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics

Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J

Publication Date: 2019-07-01

Variant appearance in text: rs235768

PubMed Link: 31262291

Variant Present in the following documents:

• 12920_2019_546_MOESM3_ESM.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: rs235768

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Interaction Effect of RsaI and BamHI Polymorphisms of TGFα, BMP2 and BMP4 on the Occurrence of Non-Syndromic Cleft Lip and Palate in Iranian Patients.

Avicenna Journal Of Medical Biotechnology

Samadi, Saba S; Ebadifar, Asghar A; Khorram Khorshid, Hamid Reza HR; Kamali, Koorosh K; Badiee, Mohammadreza M

Publication Date: 2018

Variant appearance in text: rs235768

PubMed Link: 30555658

Variant Present in the following documents:

• Main text
• AJMB-10-248.pdf

View BVdb publication page

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Nomograms incorporating genetic variants in BMP/Smad4/Hamp pathway to predict disease outcomes after definitive radiotherapy for non-small cell lung cancer.

Cancer Medicine

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

Publication Date: 2018-06

Variant appearance in text: rs235768

PubMed Link: 29745043

Variant Present in the following documents:

• Main text
• CAM4-7-2247.pdf

View BVdb publication page

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Genetic variation in bone morphogenetic proteins family members (BMPs 2 and 4) and hypertension risk in middle-aged men: The TAMRISK study.

Medicine

Piesanen, Jaakko V I JVI; Nikkari, Seppo T ST; Kunnas, Tarja A TA

Publication Date: 2017-12

Variant appearance in text: rs235768

PubMed Link: 29390526

Variant Present in the following documents:

• Main text
• medi-96-e9362.pdf

View BVdb publication page

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microRNAs Make the Call in Cancer Personalized Medicine.

Frontiers In Cell And Developmental Biology

Detassis, Simone S; Grasso, Margherita M; Del Vescovo, Valerio V; Denti, Michela A MA

Publication Date: 2017

Variant appearance in text: rs235768

PubMed Link: 29018797

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs235768

PubMed Link: 28966802

Variant Present in the following documents:

• Main text
• ad-8-5-570.pdf

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: rs235768

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: rs235768

PubMed Link: 28574846

Variant Present in the following documents:

• Main text
• oncotarget-08-43080.pdf

View BVdb publication page

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Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis.

Plos One

Lu, Yun Y; Qian, Yajing Y; Zhang, Jinglu J; Gong, Miao M; Wang, Yuting Y; Gu, Ning N; Ma, Lan L; Xu, Min M; Ma, Junqing J; Zhang, Weibing W; Pan, Yongchu Y; Wang, Lin L

Publication Date: 2016

Variant appearance in text: rs235768

PubMed Link: 27362534

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease.

Molecular Medicine Reports

Li, Fei-Feng FF; Deng, Xia X; Zhou, Jing J; Yan, Peng P; Zhao, Er-Ying EY; Liu, Shu-Lin SL

Publication Date: 2016-08

Variant appearance in text: rs235768

PubMed Link: 27357418

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: rs235768

PubMed Link: 27107574

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

Plos One

Ward-Caviness, Cavin K CK; Neas, Lucas M LM; Blach, Colette C; Haynes, Carol S CS; LaRocque-Abramson, Karen K; Grass, Elizabeth E; Dowdy, Elaine E; Devlin, Robert B RB; Diaz-Sanchez, David D; Cascio, Wayne E WE; Lynn Miranda, Marie M; Gregory, Simon G SG; Shah, Svati H SH; Kraus, William E WE; Hauser, Elizabeth R ER

Publication Date: 2016

Variant appearance in text: rs235768

PubMed Link: 27082954

Variant Present in the following documents:

• Main text
• pone.0152670.pdf

View BVdb publication page

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Association Between Dentin Matrix Protein 1 (rs10019009) Polymorphism and Ankylosing Spondylitis in a Chinese Han Population from Shandong Province.

Chinese Medical Journal

Liu, Jian-Min JM; Cui, Ya-Zhou YZ; Zhang, Geng-Lin GL; Zhou, Xiao-Yan XY; Pang, Jing-Xiang JX; Wang, Xue-Zheng XZ; Han, Jin-Xiang JX

Publication Date: 2016-03-20

Variant appearance in text: rs235768

PubMed Link: 26960368

Variant Present in the following documents:

• CMJ-129-657.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: rs235768

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs235768

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

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: rs235768

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: rs235768

PubMed Link: 24492129

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: Arg190Arg

PubMed Link: 22013543

Variant Present in the following documents:

• Main text
• JOSTEO2011-243465.pdf

View BVdb publication page

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Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway.

Bmc Musculoskeletal Disorders

Dimitriou, Rozalia R; Carr, Ian M IM; West, Robert M RM; Markham, Alexander F AF; Giannoudis, Peter V PV

Publication Date: 2011-02-10

Variant appearance in text: rs235768

PubMed Link: 21310029

Variant Present in the following documents:

• Main text
• 1471-2474-12-44.pdf

View BVdb publication page

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Bone morphogenetic protein 7 (BMP7) gene polymorphisms are associated with inverse relationships between vascular calcification and BMD: the Diabetes Heart Study.

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

Freedman, Barry I BI; Bowden, Donald W DW; Ziegler, Julie T JT; Langefeld, Carl D CD; Lehtinen, Allison B AB; Rudock, Megan E ME; Lenchik, Leon L; Hruska, Keith A KA; Register, Thomas C TC; Carr, J Jeffrey JJ

Publication Date: 2009-10

Variant appearance in text: rs235768

PubMed Link: 19453255

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

Plos Genetics

Serre, David D; Gurd, Scott S; Ge, Bing B; Sladek, Robert R; Sinnett, Donna D; Harmsen, Eef E; Bibikova, Marina M; Chudin, Eugene E; Barker, David L DL; Dickinson, Todd T; Fan, Jian-Bing JB; Hudson, Thomas J TJ

Publication Date: 2008-02-29

Variant appearance in text: rs235768

PubMed Link: 18454203

Variant Present in the following documents:

• Main text
• pgen.1000006.pdf

View BVdb publication page

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