Publications:

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Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Translational Vision Science & Technology

Wang, Yuchuan Y; Li, Jun J; Hao, Peng P; Li, Jing J; Han, Ruifang R; Lin, Jinyong J; Li, Xuan X

Publication Date: 2023-02-01

Variant appearance in text: rs755408841

PubMed Link: 36735267

Variant Present in the following documents:

• tvst-12-2-4_s001.xls, sheet 1

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: KCNA5: 544G>A; Gly182Arg; rs755408841

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Expression of potassium channel genes predicts clinical outcome in lung cancer.

The Korean Journal Of Physiology & Pharmacology : Official Journal Of The Korean Physiological Society And The Korean Society Of Pharmacology

Ko, Eun-A EA; Kim, Young-Won YW; Lee, Donghee D; Choi, Jeongyoon J; Kim, Seongtae S; Seo, Yelim Y; Bang, Hyoweon H; Kim, Jung-Ha JH; Ko, Jae-Hong JH

Publication Date: 2019-11

Variant appearance in text: KCNA5: G182R

PubMed Link: 31680775

Variant Present in the following documents:

• Main text
• kjpp-23-529.pdf

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Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Glinge, Charlotte C; Izadyar, Seyed Bahador SB; Spiekerkoetter, Edda E; Zamanian, Roham T RT; Carlsen, Jørn J; Tfelt-Hansen, Jacob J

Publication Date: 2018-09

Variant appearance in text: KCNA5: G182R

PubMed Link: 30084161

Variant Present in the following documents:

• Main text
• MGG3-6-835.pdf

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A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics

Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V

Publication Date: 2017-08-02

Variant appearance in text: KCNA5: 544G>A; G182R

PubMed Link: 28768485

Variant Present in the following documents:

• 12881_2017_440_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: KCNA5: 544G>A; G182R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: KCNA5: 544G>A; G182R

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: KCNA5: G182R

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: KCNA5: G182R

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

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Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Genetics of pulmonary hypertension.

Annals Of Thoracic Medicine

Pasha, Qadar Q

Publication Date: 2014-07

Variant appearance in text: KCNA5: G182R

PubMed Link: 25076992

Variant Present in the following documents:

• Main text
• ATM-9-16.pdf

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Endothelial and smooth muscle cell ion channels in pulmonary vasoconstriction and vascular remodeling.

Comprehensive Physiology

Makino, Ayako A; Firth, Amy L AL; Yuan, Jason X-J JX

Publication Date: 2011-07

Variant appearance in text: KCNA5: G182R

PubMed Link: 23733654

Variant Present in the following documents:

• Main text

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Tetramerization domain mutations in KCNA5 affect channel kinetics and cause abnormal trafficking patterns.

American Journal Of Physiology. Cell Physiology

Burg, Elyssa D ED; Platoshyn, Oleksandr O; Tsigelny, Igor F IF; Lozano-Ruiz, Beatriz B; Rana, Brinda K BK; Yuan, Jason X-J JX

Publication Date: 2010-03

Variant appearance in text: N/A

PubMed Link: 20018952

Variant Present in the following documents:

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