Publications:

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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: ESR1: P325P; rs1801132

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs1801132

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: ESR1: P325P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_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: rs1801132

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Sex hormone-related polymorphisms in endometriosis and migraine: A narrative review.

Women'S Health (London, England)

van der Vaart, Joy-Fleur JF; Merki-Feld, Gabriele Susanne GS

Publication Date: 2022

Variant appearance in text: rs1801132

PubMed Link: 35848345

Variant Present in the following documents:

• Main text
• 10.1177_17455057221111315.pdf

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Hormone and receptor activator of NF-κB (RANK) pathway gene expression in plasma and mammographic breast density in postmenopausal women.

Breast Cancer Research : Bcr

Mintz, Rachel R; Wang, Mei M; Xu, Shuai S; Colditz, Graham A GA; Markovic, Chris C; Toriola, Adetunji T AT

Publication Date: 2022-04-14

Variant appearance in text: ESR1: P325P

PubMed Link: 35422057

Variant Present in the following documents:

• 13058_2022_Article_1522.pdf

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: ESR1: P325P

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility.

Scientific Reports

Tan, Shing Cheng SC; Low, Teck Yew TY; Mohamad Hanif, Ezanee Azlina EA; Sharzehan, Mohamad Ayub Khan MAK; Kord-Varkaneh, Hamed H; Islam, Md Asiful MA

Publication Date: 2021-09-20

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 34545128

Variant Present in the following documents:

• Main text
• 41598_2021_Article_97935.pdf

View BVdb publication page

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The effect of protein mutations on drug binding suggests ensuing personalised drug selection.

Scientific Reports

Wan, Shunzhou S; Kumar, Deepak D; Ilyin, Valentin V; Al Homsi, Ussama U; Sher, Gulab G; Knuth, Alexander A; Coveney, Peter V PV

Publication Date: 2021-06-29

Variant appearance in text: rs1801132

PubMed Link: 34188094

Variant Present in the following documents:

• 41598_2021_92785_MOESM2_ESM.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: ESR1: P325P; rs1801132

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: ESR1: Pro325Pro; rs1801132

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The variant T allele of PvuII in ESR1 gene is a prognostic marker in early breast cancer survival.

Scientific Reports

Houtsma, Danny D; de Groot, Stefanie S; Baak-Pablo, Renee R; Kranenbarg, Elma Meershoek-Klein EM; Seynaeve, Caroline M CM; van de Velde, Cornelis J H CJH; Böhringer, Stefan S; Kroep, Judith R JR; Guchelaar, Henk -Jan H-; Gelderblom, Hans H

Publication Date: 2021-02-05

Variant appearance in text: ESR1: P325P

PubMed Link: 33547330

Variant Present in the following documents:

• 41598_2021_Article_82002.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: ESR1: Pro325Pro; rs1801132

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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A Closer Look at Estrogen Receptor Mutations in Breast Cancer and Their Implications for Estrogen and Antiestrogen Responses.

International Journal Of Molecular Sciences

Clusan, Léa L; Le Goff, Pascale P; Flouriot, Gilles G; Pakdel, Farzad F

Publication Date: 2021-01-13

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 33451133

Variant Present in the following documents:

• Main text
• ijms-22-00756.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs1801132

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The Association Between Genetic Polymorphisms in Estrogen Receptor Genes and the Risk of Ocular Disease: A Meta-Analysis

Turkish Journal Of Ophthalmology

Ulhaq, Zulvikar Syambani ZS

Publication Date: 2020-08-26

Variant appearance in text: rs1801132

PubMed Link: 32854465

Variant Present in the following documents:

• Main text
• TJO-50-216.pdf

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: ESR1: P325P; rs1801132

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Pharmacogenetics of Antipsychotic Drug Treatment: Update and Clinical Implications.

Molecular Neuropsychiatry

Yoshida, Kazunari K; Müller, Daniel J DJ

Publication Date: 2020-04

Variant appearance in text: rs1801132

PubMed Link: 32399466

Variant Present in the following documents:

• Main text

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: rs1801132

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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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: ESR1: Pro325=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Genetic variants in migraine: a field synopsis and systematic re-analysis of meta-analyses.

The Journal Of Headache And Pain

Zhao, Yating Y; Zhu, Ruixia R; Xiao, Tongling T; Liu, Xu X

Publication Date: 2020-02-11

Variant appearance in text: rs1801132

PubMed Link: 32046629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expression of ESR1 and ESR2 oestrogen receptor encoding gene and personality traits - preliminary study.

Przeglad Menopauzalny = Menopause Review

Talarowska, Monika E ME; Szemraj, Janusz J; Kuan-Pin, Su S

Publication Date: 2019-12

Variant appearance in text: rs1801132

PubMed Link: 31975979

Variant Present in the following documents:

• Main text
• MR-18-90804.pdf

View BVdb publication page

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Steroid hormone-related polymorphisms associate with the development of bone erosions in rheumatoid arthritis and help to predict disease progression: Results from the REPAIR consortium.

Scientific Reports

Sánchez-Maldonado, Jose M JM; Cáliz, Rafael R; Canet, Luz L; Horst, Rob Ter RT; Bakker, Olivier O; den Broeder, Alfons A AA; Martínez-Bueno, Manuel M; Canhão, Helena H; Rodríguez-Ramos, Ana A; Lupiañez, Carmen B CB; Soto-Pino, María José MJ; García, Antonio A; Pérez-Pampin, Eva E; González-Utrilla, Alfonso A; Escudero, Alejandro A; Segura-Catena, Juana J; Netea-Maier, Romana T RT; Ferrer, Miguel Ángel MÁ; Collantes-Estevez, Eduardo E; López Nevot, Miguel Ángel MÁ; Li, Yang Y; Jurado, Manuel M; Fonseca, João E JE; Netea, Mihai G MG; Coenen, Marieke J H MJH; Sainz, Juan J

Publication Date: 2019-10-15

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 31616008

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51255.pdf

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: ESR1: P325P; rs1801132

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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The association between hormones and antipsychotic use: a focus on postpartum and menopausal women.

Therapeutic Advances In Psychopharmacology

González-Rodríguez, Alexandre A; Seeman, Mary V MV

Publication Date: 2019

Variant appearance in text: rs1801132

PubMed Link: 31321026

Variant Present in the following documents:

• Main text
• 10.1177_2045125319859973.pdf

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: ESR1: Pro325Pro; rs1801132

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: ESR1: Pro325Pro

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphisms of estrogen receptor genes are associated with breast cancer susceptibility in Chinese women.

Cancer Cell International

Dai, Zhijun Z; Tian, Tian T; Wang, Meng M; Yang, Tielin T; Li, Hongtao H; Lin, Shuai S; Hao, Qian Q; Xu, Peng P; Deng, Yujiao Y; Zhou, Linghui L; Li, Na N; Diao, Yan Y

Publication Date: 2019

Variant appearance in text: ESR1: P325P

PubMed Link: 30636932

Variant Present in the following documents:

• 12935_2019_Article_727.pdf

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: rs1801132

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Variant Alleles of the ESR1, PPARG, HMGA2, and MTHFR Genes Are Associated With Polycystic Ovary Syndrome Risk in a Chinese Population: A Case-Control Study.

Frontiers In Endocrinology

Jiao, Xianting X; Chen, Weiwei W; Zhang, Jun J; Wang, Weiye W; Song, Junjiao J; Chen, Dan D; Zhu, Wenting W; Shi, Yuhua Y; Yu, Xiaodan X

Publication Date: 2018

Variant appearance in text: rs1801132

PubMed Link: 30214429

Variant Present in the following documents:

• Main text
• fendo-09-00504.pdf

View BVdb publication page

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DES-Mutation: System for Exploring Links of Mutations and Diseases.

Scientific Reports

Kordopati, Vasiliki V; Salhi, Adil A; Razali, Rozaimi R; Radovanovic, Aleksandar A; Tifratene, Faroug F; Uludag, Mahmut M; Li, Yu Y; Bokhari, Ameerah A; AlSaieedi, Ahdab A; Bin Raies, Arwa A; Van Neste, Christophe C; Essack, Magbubah M; Bajic, Vladimir B VB

Publication Date: 2018-09-06

Variant appearance in text: rs1801132

PubMed Link: 30190574

Variant Present in the following documents:

• 41598_2018_31439_MOESM1_ESM.xlsx, sheet 6

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: ESR1: P325P; rs1801132

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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The Role of Genetic Polymorphisms in Chronic Pain Patients.

International Journal Of Molecular Sciences

Knezevic, Nebojsa Nick NN; Tverdohleb, Tatiana T; Knezevic, Ivana I; Candido, Kenneth D KD

Publication Date: 2018-06-08

Variant appearance in text: rs1801132

PubMed Link: 29890676

Variant Present in the following documents:

• Main text
• ijms-19-01707.pdf

View BVdb publication page

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: ESR1: P325P

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s004.xlsx, sheet 1
• pone.0195761.s003.xlsx, sheet 1
• pone.0195761.s005.xlsx, sheet 1

View BVdb publication page

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Investigation of variants in estrogen receptor genes and perinatal depression.

Neuropsychiatric Disease And Treatment

Tan, Ene-Choo EC; Lim, Hwee-Woon HW; Chua, Tze-Ern TE; Tan, Hui-San HS; Lee, Theresa My TM; Chen, Helen Y HY

Publication Date: 2018

Variant appearance in text: ESR1: Pro325Pro; rs1801132

PubMed Link: 29636617

Variant Present in the following documents:

• Main text
• ndt-14-919.pdf

View BVdb publication page

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South-south collaboration on HIV/AIDS prevention and treatment research: when birds of a feather rarely flock together.

Globalization And Health

Fonseca, Bruna de Paula Fonseca E BPFE; Albuquerque, Priscila Costa PC; Noyons, Ed E; Zicker, Fabio F

Publication Date: 2018-03-01

Variant appearance in text: rs1801132

PubMed Link: 29490665

Variant Present in the following documents:

• 12992_2018_341_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Association of three single nucleotide polymorphisms of ESR1with breast cancer susceptibility: a meta-analysis.

Journal Of Biomedical Research

Hu, Xu X; Jiang, Linfei L; Tang, Chenhui C; Ju, Yuehong Y; Jiu, Li L; Wei, Yongyue Y; Guo, Li L; Zhao, Yang Y

Publication Date: 2017-01-19

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 28808214

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in sex steroid receptors: From gene sequence to behavior.

Frontiers In Neuroendocrinology

Maney, Donna L DL

Publication Date: 2017-10

Variant appearance in text: rs1801132

PubMed Link: 28705582

Variant Present in the following documents:

• Main text

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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: rs1801132

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: rs1801132

PubMed Link: 28652652

Variant Present in the following documents:

• Main text
• WJG-23-3978.pdf

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Intronic SNP in ESR1 encoding human estrogen receptor alpha is associated with brain ESR1 mRNA isoform expression and behavioral traits.

Plos One

Pinsonneault, Julia K JK; Frater, John T JT; Kompa, Benjamin B; Mascarenhas, Roshan R; Wang, Danxin D; Sadee, Wolfgang W

Publication Date: 2017

Variant appearance in text: rs1801132

PubMed Link: 28617822

Variant Present in the following documents:

• Main text

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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An exploratory study of host polymorphisms in genes that clinically characterize breast cancer tumors and pretreatment cognitive performance in breast cancer survivors.

Breast Cancer (Dove Medical Press)

Koleck, Theresa A TA; Bender, Catherine M CM; Clark, Beth Z BZ; Ryan, Christopher M CM; Ghotkar, Puja P; Brufsky, Adam A; McAuliffe, Priscilla F PF; Rastogi, Priya P; Sereika, Susan M SM; Conley, Yvette P YP

Publication Date: 2017

Variant appearance in text: rs1801132

PubMed Link: 28424560

Variant Present in the following documents:

• Main text

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Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science

Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR

Publication Date: 2017-02

Variant appearance in text: rs1801132

PubMed Link: 28386409

Variant Present in the following documents:

• rsos160254supp3.xlsx, sheet 1
• rsos160254supp3.xlsx, sheet 10

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Racial disparity in metabolic regulation of cancer.

Frontiers In Bioscience (Landmark Edition)

Attri, Kuldeep S KS; Murthy, Divya D; Singh, Pankaj K PK

Publication Date: 2017-03-01

Variant appearance in text: rs1801132

PubMed Link: 28199202

Variant Present in the following documents:

• Main text

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Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer.

Oncotarget

Kuo, Sung-Hsin SH; Yang, Shi-Yi SY; You, San-Lin SL; Lien, Huang-Chun HC; Lin, Ching-Hung CH; Lin, Po-Han PH; Huang, Chiun-Sheng CS

Publication Date: 2017-03-28

Variant appearance in text: rs1801132

PubMed Link: 28178648

Variant Present in the following documents:

• Main text

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Interactive role of diabetes mellitus and female sex in the risk of cholangiocarcinoma: A population-based nested case-control study.

Oncotarget

Huang, Yan-Jiun YJ; Wu, Alexander Th AT; Chiou, Hung-Yi HY; Chuang, Ming-Tsang MT; Meng, Tzu-Ching TC; Chien, Li-Nien LN; Yen, Yun Y

Publication Date: 2017-01-24

Variant appearance in text: ESR1: P325P; rs1801132

PubMed Link: 28036262

Variant Present in the following documents:

• Main text
• oncotarget-08-6642.pdf

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Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers.

Oncotarget

Rizzolo, Piera P; Navazio, Anna Sara AS; Silvestri, Valentina V; Valentini, Virginia V; Zelli, Veronica V; Zanna, Ines I; Masala, Giovanna G; Bianchi, Simonetta S; Scarnò, Marco M; Tommasi, Stefania S; Palli, Domenico D; Ottini, Laura L

Publication Date: 2016-11-08

Variant appearance in text: ESR1: P325P

PubMed Link: 27765917

Variant Present in the following documents:

• Main text

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Noncoding somatic and inherited single-nucleotide variants converge to promote ESR1 expression in breast cancer.

Nature Genetics

Bailey, Swneke D SD; Desai, Kinjal K; Kron, Ken J KJ; Mazrooei, Parisa P; Sinnott-Armstrong, Nicholas A NA; Treloar, Aislinn E AE; Dowar, Mark M; Thu, Kelsie L KL; Cescon, David W DW; Silvester, Jennifer J; Yang, S Y Cindy SY; Wu, Xue X; Pezo, Rossanna C RC; Haibe-Kains, Benjamin B; Mak, Tak W TW; Bedard, Philippe L PL; Pugh, Trevor J TJ; Sallari, Richard C RC; Lupien, Mathieu M

Publication Date: 2016-10

Variant appearance in text: rs1801132

PubMed Link: 27571262

Variant Present in the following documents:

• Main text

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