Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs334354

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs334354

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Single Nucleotide Polymorphisms of IL-33 Gene Correlated with Renal Allograft Fibrosis in Kidney Transplant Recipients.

Journal Of Immunology Research

Liu, Xuzhong X; Liu, Kun K; Gui, Zeping Z; Feng, Dengyuan D; Wang, Zijie Z; Zheng, Ming M; Fei, Shuang S; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Ju, Xiaobing X; Zhang, Hengcheng H; Tan, Ruoyun R; Gu, Min M

Publication Date: 2021

Variant appearance in text: rs334354

PubMed Link: 34950738

Variant Present in the following documents:

• JIR2021-8029180.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: TGFBR1: 1255+24G>A; rs334354

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs334354

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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TGF-β and microRNA Interplay in Genitourinary Cancers.

Cells

Boguslawska, Joanna J; Kryst, Piotr P; Poletajew, Slawomir S; Piekielko-Witkowska, Agnieszka A

Publication Date: 2019-12-12

Variant appearance in text: rs334354

PubMed Link: 31842336

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Zheng, Ming M; Yang, Haiwei H; Li, Wencheng W; Zhou, Jiajun J; Wei, Jintao J; Wang, Zijie Z; Guo, Miao M; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Tao, Jun J; Ju, Xiaobing X; Tan, Ruoyun R; Wei, Jifu J; Gu, Min M

Publication Date: 2019-12-01

Variant appearance in text: rs334354

PubMed Link: 31786580

Variant Present in the following documents:

• Main text
• medscimonit-25-9138.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: TGFBR1: 1255+24G>A; rs334354

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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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: rs334354

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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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: TGFBR1: 1255+24G>A; rs334354

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Polymorphism of R353Q (rs6046) in factor VII and the risk of myocardial infarction: A systematic review and meta-analysis.

Medicine

Huang, Haoming H; Long, Wenjie W; Zhao, Weixuan W; Zou, Ling L; Song, Yudi Y; Zuo, Junling J; Yang, Zhongqi Z

Publication Date: 2018-09

Variant appearance in text: rs334354

PubMed Link: 30278561

Variant Present in the following documents:

• medi-97-e12566.pdf

View BVdb publication page

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Sequence Analysis of Drug Target Genes with Suicidal Behavior in Bipolar Disorder Patients.

Molecular Neuropsychiatry

Zai, Clement C CC; Tiwari, Arun K AK; Zai, Gwyneth C GC; de Luca, Vincenzo V; Shaikh, Sajid A SA; King, Nicole N; Strauss, John J; Kennedy, James L JL; Vincent, John B JB

Publication Date: 2018-06

Variant appearance in text: rs334354

PubMed Link: 29998113

Variant Present in the following documents:

• Main text

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs334354

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 5
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Association between Altered Expression and Genetic Variations of Transforming Growth Factor β-Smad Pathway with Chronic Myeloid Leukemia.

International Journal Of Hematology-Oncology And Stem Cell Research

Shokeen, Yogender Y; Sharma, Neeta Raj NR; Vats, Abhishek A; Dinand, Veronique V; Beg, Mirza Adil MA; Sanskaran, Satish S; Minhas, Sachin S; Jauhri, Mayank M; Hariharan, Arun K AK; Taneja, Vibha V; Aggarwal, Shyam S

Publication Date: 2018-01-01

Variant appearance in text: rs334354

PubMed Link: 29951173

Variant Present in the following documents:

• Main text
• IJHOSCR-12-14.pdf

View BVdb publication page

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Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis.

Oncotarget

Benna, Clara C; Simioni, Andrea A; Pasquali, Sandro S; De Boni, Davide D; Rajendran, Senthilkumar S; Spiro, Giovanna G; Colombo, Chiara C; Virgone, Calogero C; DuBois, Steven G SG; Gronchi, Alessandro A; Rossi, Carlo Riccardo CR; Mocellin, Simone S

Publication Date: 2018-04-06

Variant appearance in text: rs334354

PubMed Link: 29719630

Variant Present in the following documents:

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: rs334354

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

Carcinogenesis

Xicola, Rosa M RM; Bontu, Sneha S; Doyle, Brian J BJ; Rawson, Jamie J; Garre, Pilar P; Lee, Esther E; de la Hoya, Miguel M; Bessa, Xavier X; Clofent, Joan J; Bujanda, Luis L; Balaguer, Francesc F; Castellví-Bel, Sergi S; Alenda, Cristina C; Jover, Rodrigo R; Ruiz-Ponte, Clara C; Syngal, Sapna S; Andreu, Montserrat M; Carracedo, Angel A; Castells, Antoni A; Newcomb, Polly A PA; Lindor, Noralane N; Potter, John D JD; Baron, John A JA; Ellis, Nathan A NA; Caldes, Trinidad T; LLor, Xavier X

Publication Date: 2016-08

Variant appearance in text: rs334354

PubMed Link: 27234654

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs334354

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Association between Int7G24A rs334354 polymorphism and cancer risk: a meta-analysis of case-control studies.

Scientific Reports

Wu, Weixiang W; Tong, Yeqing Y; Wei, Xiaoyun X; Zhao, Qiang Q; Pan, Xiaoqi X; Yu, Guangxia G; Lu, Qing Q

Publication Date: 2015-06-15

Variant appearance in text: rs334354

PubMed Link: 26074400

Variant Present in the following documents:

• Main text
• srep11350.pdf

View BVdb publication page

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NQO1 C609T polymorphism and colorectal cancer susceptibility: a meta-analysis.

Archives Of Medical Science : Ams

Zheng, Bo'an B; Wang, Zishu Z; Chai, Rui R

Publication Date: 2014-08-29

Variant appearance in text: rs334354

PubMed Link: 25276147

Variant Present in the following documents:

• AMS-10-23416.pdf

View BVdb publication page

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Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

Bmc Medical Genetics

Foffa, Ilenia I; Ait Alì, Lamia L; Panesi, Paola P; Mariani, Massimiliano M; Festa, Pierluigi P; Botto, Nicoletta N; Vecoli, Cecilia C; Andreassi, Maria Grazia MG

Publication Date: 2013-04-11

Variant appearance in text: rs334354

PubMed Link: 23578328

Variant Present in the following documents:

• Main text

View BVdb publication page

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Int7G24A polymorphism (rs334354) and cancer risk.

Archives Of Medical Science : Ams

Liu, Xiaolong X; Shan, Yuxi Y; Xue, Boxin B

Publication Date: 2013-02-21

Variant appearance in text: rs334354

PubMed Link: 23515707

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between TGFBR1 polymorphisms and cancer risk: a meta-analysis of 35 case-control studies.

Plos One

Wang, Yong-qiang YQ; Qi, Xiao-wei XW; Wang, Fan F; Jiang, Jun J; Guo, Qiao-nan QN

Publication Date: 2012

Variant appearance in text: rs334354

PubMed Link: 22905183

Variant Present in the following documents:

• Main text
• pone.0042899.pdf

View BVdb publication page

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Debate about TGFBR1 and the susceptibility to colorectal cancer.

World Journal Of Gastrointestinal Oncology

Valle, Laura L

Publication Date: 2012-01-15

Variant appearance in text: rs334354

PubMed Link: 22347533

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variations in the transforming growth factor-beta pathway as predictors of survival in advanced non-small cell lung cancer.

Carcinogenesis

Lin, Moubin M; Stewart, David J DJ; Spitz, Margaret R MR; Hildebrandt, Michelle A T MA; Lu, Charles C; Lin, Jie J; Gu, Jian J; Huang, Maosheng M; Lippman, Scott M SM; Wu, Xifeng X

Publication Date: 2011-07

Variant appearance in text: rs334354

PubMed Link: 21515830

Variant Present in the following documents:

• Main text

View BVdb publication page

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TGFBR1 signaling and breast cancer.

Journal Of Mammary Gland Biology And Neoplasia

Moore-Smith, Lakisha L; Pasche, Boris B

Publication Date: 2011-06

Variant appearance in text: rs334354

PubMed Link: 21461994

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Int7G24A variant of transforming growth factor-beta receptor type I is a risk factor for colorectal cancer in the male Spanish population: a case-control study.

Bmc Cancer

Castillejo, Adela A; Mata-Balaguer, Trinidad T; Guarinos, Carla C; Castillejo, María-Isabel MI; Martínez-Cantó, Ana A; Barberá, Víctor-Manuel VM; Montenegro, Paola P; Ochoa, Enrique E; Lázaro, Rafael R; Guillén-Ponce, Carmen C; Carrato, Alfredo A; Soto, José-Luís JL

Publication Date: 2009-11-20

Variant appearance in text: TGFBR1: 1255+24G>A; rs334354

PubMed Link: 19930569

Variant Present in the following documents:

• Main text
• 1471-2407-9-406.pdf

View BVdb publication page

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TGFBR1 haplotypes and risk of non-small-cell lung cancer.

Cancer Research

Lei, Zhe Z; Liu, Reng-Yun RY; Zhao, Jun J; Liu, Zeyi Z; Jiang, Xiefang X; You, Weiming W; Chen, Xiao-Feng XF; Liu, Xia X; Zhang, Kui K; Pasche, Boris B; Zhang, Hong-Tao HT

Publication Date: 2009-09-01

Variant appearance in text: rs334354

PubMed Link: 19690145

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.

Stroke

Santiago-Sim, Teresa T; Mathew-Joseph, Sumy S; Pannu, Hariyadarshi H; Milewicz, Dianna M DM; Seidman, Christine E CE; Seidman, J G JG; Kim, Dong H DH

Publication Date: 2009-05

Variant appearance in text: rs334354

PubMed Link: 19299629

Variant Present in the following documents:

• Main text

View BVdb publication page

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