Publications:

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XVII Meeting of the Academy AIPMB and I National Congress SPPMB. December 2-3, 2022. Proceedings and Abstract.

Medicina Oral, Patologia Oral Y Cirugia Bucal

Publication Date: 2023-04-11

Variant appearance in text: rs17563

PubMed Link: 37039280

Variant Present in the following documents:

• medoral-28-S1.pdf

View BVdb publication page

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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: BMP4: V152A

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: BMP4: V152A; rs17563

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.

Genome Medicine

Xin, Junyi J; Du, Mulong M; Gu, Dongying D; Jiang, Kewei K; Wang, Mengyun M; Jin, Mingjuan M; Hu, Yeting Y; Ben, Shuai S; Chen, Silu S; Shao, Wei W; Li, Shuwei S; Chu, Haiyan H; Zhu, Linjun L; Li, Chen C; Chen, Kun K; Ding, Kefeng K; Zhang, Zhengdong Z; Shen, Hongbing H; Wang, Meilin M

Publication Date: 2023-01-24

Variant appearance in text: rs17563

PubMed Link: 36694225

Variant Present in the following documents:

• Main text
• 13073_2023_Article_1156.pdf

View BVdb publication page

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Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy

Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J

Publication Date: 2023-01-19

Variant appearance in text: BMP4: V152A

PubMed Link: 36653483

Variant Present in the following documents:

• 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
• 41417_2022_572_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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Association between PTCH1 and RAD54B Single-Nucleotide Polymorphisms and Non-syndromic Orofacial Clefts in the Northeast Population of Iran.

Avicenna Journal Of Medical Biotechnology

Morvaridi Farimani, Reza R; Azimi-Nezhad, Mohsen M; KhorramKhorshid, Hamid Reza HR; Ebadifar, Asghar A; Tohidkhah, Saba S; Jafarian, Zahra Z; Kamali, Koorosh K; Nazari, Zeinab Z; Ebrahimzadeh-Vesal, Reza R

Publication Date: 2022

Variant appearance in text: rs17563

PubMed Link: 36504563

Variant Present in the following documents:

• Main text
• AJMB-14-310.pdf

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: BMP4: V152A; rs17563

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: rs17563

PubMed Link: 36276944

Variant Present in the following documents:

• Main text
• fgene-13-987867.pdf

View BVdb publication page

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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: BMP4: 455T>C; Val152Ala; rs17563

PubMed Link: 36269797

Variant Present in the following documents:

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

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: BMP4: V152A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_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: rs17563

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 MTHFR, BMP4, TGFA and IRF6 Polymorphisms with Non-Syndromic Cleft lip and Palate in North Indian Patients.

Avicenna Journal Of Medical Biotechnology

Avasthi, Kapil Kumar KK; Agarwal, Amit A; Agarwal, Sarita S

Publication Date: 2022

Variant appearance in text: rs17563

PubMed Link: 35633991

Variant Present in the following documents:

• Main text
• AJMB-14-175.pdf

View BVdb publication page

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The Effect of the NFκB-USP9X-Cx43 Axis on the Dynamic Balance of Bone Formation/Degradation during Ossification of the Posterior Longitudinal Ligament of the Cervical Spine.

Oxidative Medicine And Cellular Longevity

Yuan, Xiaoqiu X; Guo, Yongfei Y; Liu, Jilu J; Sun, Jingchuan J; Shi, Lei L; Miao, Jinhao J; Shi, Jiangang J; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: rs17563

PubMed Link: 35391932

Variant Present in the following documents:

• OMCL2022-1604932.pdf

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: BMP4: Val152Ala; rs17563

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

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: rs17563

PubMed Link: 35047139

Variant Present in the following documents:

• Main text
• jcvtr-13-336.pdf

View BVdb publication page

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Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Human Molecular Genetics

Guggenheim, Jeremy A JA; Clark, Rosie R; Cui, Jiangtian J; Terry, Louise L; Patasova, Karina K; Haarman, Annechien E G AEG; Musolf, Anthony M AM; Verhoeven, Virginie J M VJM; Klaver, Caroline C W CCW; Bailey-Wilson, Joan E JE; Hysi, Pirro G PG; Williams, Cathy C; , ; ,

Publication Date: 2022-06-04

Variant appearance in text: rs17563

PubMed Link: 35022715

Variant Present in the following documents:

• hmg_r2_supplement_ddac004.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: BMP4: V152A

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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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: rs17563

PubMed Link: 34539446

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of PON1, LEP and LEPR Polymorphisms with Susceptibility to Breast Cancer: A Meta-Analysis.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Sayad, Soheila S; Dastgheib, Seyed Alireza SA; Farbod, Meraj M; Asadian, Fatemeh F; Karimi-Zarchi, Mojgan M; Salari, Seyedali S; Shaker, Seyed Hossein SH; Sadeghizadeh-Yazdi, Jalal J; Neamatzadeh, Hossein H

Publication Date: 2021-08-01

Variant appearance in text: rs17563

PubMed Link: 34452542

Variant Present in the following documents:

• APJCP-22-2323.pdf

View BVdb publication page

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Effects of Genetic Variation on Endurance Performance, Muscle Strength, and Injury Susceptibility in Sports: A Systematic Review.

Frontiers In Physiology

Appel, Milena M; Zentgraf, Karen K; Krüger, Karsten K; Alack, Katharina K

Publication Date: 2021

Variant appearance in text: rs17563

PubMed Link: 34366884

Variant Present in the following documents:

• Main text
• fphys-12-694411.pdf

View BVdb publication page

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Genetics and molecular biology of male infertility among Iranian population: an update.

American Journal Of Translational Research

Mojarrad, Majid M; Saburi, Ehsan E; Golshan, Alireza A; Moghbeli, Meysam M

Publication Date: 2021

Variant appearance in text: rs17563

PubMed Link: 34306325

Variant Present in the following documents:

• Main text

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: rs17563

PubMed Link: 34135450

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92169.pdf

View BVdb publication page

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Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics

Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME

Publication Date: 2021

Variant appearance in text: rs17563

PubMed Link: 33981330

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diffuse Idiopathic Skeletal Hyperostosis of Cervical Spine with Dysphagia-Molecular and Clinical Aspects.

International Journal Of Molecular Sciences

Dąbrowski, Mikołaj M; Kubaszewski, Łukasz Ł

Publication Date: 2021-04-20

Variant appearance in text: rs17563

PubMed Link: 33923907

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: BMP4: 455T>C; V152A; rs17563

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Association of Single Nucleotide Polymorphisms on Locus 18q21.1 in the Etiology of Nonsyndromic Cleft Lip Palate (NSCLP) in Indian Multiplex Families.

Global Medical Genetics

Neela, Praveen Kumar PK; Reddy, Gosla Srinivas GS; Husain, Akhter A; Mohan, Vasavi V; Thumoju, Sravya S; Bv, Rajeshwari R

Publication Date: 2021-03

Variant appearance in text: rs17563

PubMed Link: 33748821

Variant Present in the following documents:

• Main text
• 10-1055-s-0041-1723087.pdf

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: BMP4: 455T>C; V152A; rs17563

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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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: BMP4: 455T>C; V152A; rs17563

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Association analysis of GWAS hits and non-syndromic cleft lip with/without palate with cleft alveolar in Han population of western China.

International Journal Of Clinical And Experimental Pathology

Duan, Shijun S; Shi, Jiayu J; Shi, Bing B; Jia, Zhonglin Z

Publication Date: 2020

Variant appearance in text: rs17563

PubMed Link: 33165418

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variants in miRNAs Are Associated With Risk of Non-syndromic Tooth Agenesis.

Frontiers In Physiology

Gu, Min M; Yu, Xin X; Fan, Liwen L; Zhu, Guirong G; Yang, Fan F; Lou, Shu S; Ma, Lan L; Pan, Yongchu Y; Wang, Lin L

Publication Date: 2020

Variant appearance in text: rs17563

PubMed Link: 32973563

Variant Present in the following documents:

• Main text
• fphys-11-01052.pdf

View BVdb publication page

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics

Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M

Publication Date: 2020-09-01

Variant appearance in text: BMP4: 455T>C; Val152Ala

PubMed Link: 32867697

Variant Present in the following documents:

• 12881_2020_1110_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: BMP4: V152A; rs17563

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.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: rs17563

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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Gene-gene interactions between BMP4 and ARHGAP29 among non-syndromic cleft lip only (NSCLO) trios from western Han Chinese population.

International Journal Of Clinical And Experimental Pathology

Wang, Yiru Y; Shi, Jiayu J; Zheng, Qian Q; Shi, Bing B; Jia, Zhonglin Z

Publication Date: 2020

Variant appearance in text: rs17563

PubMed Link: 32211112

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nonsyndromic Oral Cleft in First-Degree Relatives of Patients with Acute Lymphoblastic Leukemia.

Dentistry Journal

Oliveira Dias, Verônica V; Reis Barbosa Martelli, Daniella D; Santos, Maria Luiza ML; Fernandes Maia, Célia Márcia CM; Soares de Andrade, Rodrigo R; Coletta, Ricardo D RD; Martelli Júnior, Hercílio H

Publication Date: 2020-03-04

Variant appearance in text: rs17563

PubMed Link: 32143304

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: rs17563

PubMed Link: 31968564

Variant Present in the following documents:

• Main text
• jcm-09-00282.pdf

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: BMP4: 455T>C; Val152Ala

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 2

View BVdb publication page

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Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate.

Heliyon

Saleem, Komal K; Zaib, Tahir T; Sun, Wenjing W; Fu, Songbin S

Publication Date: 2019-12

Variant appearance in text: rs17563

PubMed Link: 31886431

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut

Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J

Publication Date: 2020-08

Variant appearance in text: BMP4: V152A; rs17563

PubMed Link: 31818908

Variant Present in the following documents:

• gutjnl-2019-319313supp002.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: BMP4: 455T>C; Val152Ala; rs17563

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: BMP4: V152A; rs17563

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

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Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.

Journal Of Oncology

Czyz, Malgorzata M; Sztiller-Sikorska, Malgorzata M; Gajos-Michniewicz, Anna A; Osrodek, Marta M; Hartman, Mariusz L ML

Publication Date: 2019

Variant appearance in text: BMP4: V152A

PubMed Link: 31354817

Variant Present in the following documents:

• 1697913.f1.pdf

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: rs17563

PubMed Link: 31262291

Variant Present in the following documents:

• 12920_2019_546_MOESM3_ESM.xlsx, sheet 1

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Investigation of candidate genes of non-syndromic cleft lip with or without cleft palate, using both case-control and family-based association studies.

Medicine

Ge, Xing X; Hong, Jia-Wei JW; Shen, Jun-Yu JY; Li, Zheng Z; Zhang, Rui R; Wang, Qi Q; Ding, Zhen Z; Chen, Gang G; Xu, Li-Chun LC

Publication Date: 2019-06

Variant appearance in text: rs17563

PubMed Link: 31261547

Variant Present in the following documents:

• medi-98-e16170.pdf

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: BMP4: V152A

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s007.xlsx, sheet 1

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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: BMP4: 455T>C; Val152Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: BMP4: V152A; rs17563

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

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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: rs17563

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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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: rs17563

PubMed Link: 30555658

Variant Present in the following documents:

• Main text

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