Publications:

---

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: CACNA1H: R788C; rs3751664

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.

Molecular Neurobiology

Maksemous, Neven N; Harder, Aster V E AVE; Ibrahim, Omar O; Vijfhuizen, Lisanne S LS; Sutherland, Heidi H; Pelzer, Nadine N; de Boer, Irene I; Terwindt, Gisela M GM; Lea, Rodney A RA; van den Maagdenberg, Arn M J M AMJM; Griffiths, Lyn R LR

Publication Date: 2023-02-14

Variant appearance in text: CACNA1H: Arg788Cys; rs3751664

PubMed Link: 36786913

Variant Present in the following documents:

• 12035_2023_3255_MOESM1_ESM.xlsx, sheet 1
• 12035_2023_3255_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: Cav3.2: R788C

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

View BVdb publication page

---

Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: CACNA1H: R788C; rs3751664

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

---

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: CACNA1H: 2362C>T; R788C; rs3751664

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: CACNA1H: 2362C>T; Arg788Cys; rs3751664

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

International Journal Of Molecular Sciences

Thakran, Sarita S; Guin, Debleena D; Singh, Pooja P; Singh, Priyanka P; Kukal, Samiksha S; Rawat, Chitra C; Yadav, Saroj S; Kushwaha, Suman S SS; Srivastava, Achal K AK; Hasija, Yasha Y; Saso, Luciano L; Ramachandran, Srinivasan S; Kukreti, Ritushree R

Publication Date: 2020-10-21

Variant appearance in text: rs3751664

PubMed Link: 33096746

Variant Present in the following documents:

• Main text
• ijms-21-07784.pdf

View BVdb publication page

---

CACNA1H variants are not a cause of monogenic epilepsy.

Human Mutation

Calhoun, Jeffrey D JD; Huffman, Alexandra M AM; Bellinski, Irena I; Kinsley, Lisa L; Bachman, Elizabeth E; Gerard, Elizabeth E; Kearney, Jennifer A JA; Carvill, Gemma L GL

Publication Date: 2020-06

Variant appearance in text: CACNA1H: 2362C>T

PubMed Link: 32227660

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: CACNA1H: 2362C>T; Arg788Cys; rs3751664

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

An Allosteric Anti-tryptase Antibody for the Treatment of Mast Cell-Mediated Severe Asthma.

Cell

Maun, Henry R HR; Jackman, Janet K JK; Choy, David F DF; Loyet, Kelly M KM; Staton, Tracy L TL; Jia, Guiquan G; Dressen, Amy A; Hackney, Jason A JA; Bremer, Meire M; Walters, Benjamin T BT; Vij, Rajesh R; Chen, Xiaocheng X; Trivedi, Neil N NN; Morando, Ashley A; Lipari, Michael T MT; Franke, Yvonne Y; Wu, Xiumin X; Zhang, Juan J; Liu, John J; Wu, Ping P; Chang, Diana D; Orozco, Luz D LD; Christensen, Erin E; Wong, Manda M; Corpuz, Racquel R; Hang, Julie Q JQ; Lutman, Jeff J; Sukumaran, Siddharth S; Wu, Yan Y; Ubhayakar, Savita S; Liang, Xiaorong X; Schwartz, Lawrence B LB; Babina, Magda M; Woodruff, Prescott G PG; Fahy, John V JV; Ahuja, Rahul R; Caughey, George H GH; Kusi, Aija A; Dennis, Mark S MS; Eigenbrot, Charles C; Kirchhofer, Daniel D; Austin, Cary D CD; Wu, Lawren C LC; Koerber, James T JT; Lee, Wyne P WP; Yaspan, Brian L BL; Alatsis, Kathila R KR; Arron, Joseph R JR; Lazarus, Robert A RA; Yi, Tangsheng T

Publication Date: 2019-10-03

Variant appearance in text: rs3751664

PubMed Link: 31585081

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic T-type calcium channelopathies.

Journal Of Medical Genetics

Weiss, Norbert N; Zamponi, Gerald W GW

Publication Date: 2020-01

Variant appearance in text: CACNA1H: R788C

PubMed Link: 31217264

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106163.pdf

View BVdb publication page

---

Genetics of Hypertension in African Americans and Others of African Descent.

International Journal Of Molecular Sciences

Zilbermint, Mihail M; Hannah-Shmouni, Fady F; Stratakis, Constantine A CA

Publication Date: 2019-03-02

Variant appearance in text: rs3751664

PubMed Link: 30832344

Variant Present in the following documents:

• Main text
• ijms-20-01081.pdf

View BVdb publication page

---

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs3751664

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: CACNA1H: 2362C>T; Arg788Cys; rs3751664

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

---

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: CACNA1H: 2362C>T; R788C; rs3751664

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 2

View BVdb publication page

---

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Plos One

Lee, Cha Gon CG; Lee, Jeehun J; Lee, Munhyang M

Publication Date: 2018

Variant appearance in text: CACNA1H: 2362C>T; Arg788Cys

PubMed Link: 29924869

Variant Present in the following documents:

• Main text
• pone.0199321.pdf

View BVdb publication page

---

An Improved Method for Modeling Voltage-Gated Ion Channels at Atomic Accuracy Applied to Human Cav Channels.

Cell Reports

Martinez-Ortiz, Wilnelly W; Cardozo, Timothy J TJ

Publication Date: 2018-05-01

Variant appearance in text: Cav3.2: R788C

PubMed Link: 29719253

Variant Present in the following documents:

• NIHMS965983-supplement-2.pdf
• NIHMS965983-supplement-1.pdf

View BVdb publication page

---

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.

Epilepsia Open

Becker, Felicitas F; Reid, Christopher A CA; Hallmann, Kerstin K; Tae, Han-Shen HS; Phillips, A Marie AM; Teodorescu, Georgeta G; Weber, Yvonne G YG; Kleefuss-Lie, Ailing A; Elger, Christian C; Perez-Reyes, Edward E; Petrou, Steven S; Kunz, Wolfram S WS; Lerche, Holger H; Maljevic, Snezana S

Publication Date: 2017-09

Variant appearance in text: CACNA1H: 2362C>T

PubMed Link: 29588962

Variant Present in the following documents:

• Main text
• EPI4-2-334.pdf

View BVdb publication page

---

Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos.

Scientific Reports

Sofer, Tamar T; Wong, Quenna Q; Hartwig, Fernando P FP; Taylor, Kent K; Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Levy, Daniel D; Kramer, Holly H; Lange, Leslie A LA; Horta, Bernardo L BL; , ; Kerr, Kathleen F KF; Reiner, Alex P AP; Franceschini, Nora N

Publication Date: 2017-09-04

Variant appearance in text: rs3751664

PubMed Link: 28871152

Variant Present in the following documents:

• 41598_2017_9019_MOESM1_ESM.pdf

View BVdb publication page

---

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: rs3751664

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: CACNA1H: R788C; rs3751664

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: CACNA1H: R788C

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Intergenerational Impact of Genetic and Psychological Factors on Blood Pressure (InterGEN) Study: Design and Methods for Complex DNA Analysis.

Biological Research For Nursing

Taylor, Jacquelyn Y JY; Wright, Michelle L ML; Crusto, Cindy A CA; Sun, Yan V YV

Publication Date: 2016-10

Variant appearance in text: rs3751664

PubMed Link: 27118148

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs3751664

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CACNA1H: R788C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: CACNA1H: R788C; rs3751664

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CACNA1H: R788C; rs3751664

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: CACNA1H: R788C; rs3751664

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 9

View BVdb publication page

---

The role of T-type calcium channel genes in absence seizures.

Frontiers In Neurology

Chen, Yucai Y; Parker, William Davis WD; Wang, Keling K

Publication Date: 2014

Variant appearance in text: Cav3.2: R788C

PubMed Link: 24847307

Variant Present in the following documents:

• Main text
• fneur-05-00045.pdf

View BVdb publication page

---

Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.

The Journal Of Physiology

Eckle, Veit-Simon VS; Shcheglovitov, Aleksandr A; Vitko, Iuliia I; Dey, Deblina D; Yap, Chan Choo CC; Winckler, Bettina B; Perez-Reyes, Edward E

Publication Date: 2014-02-15

Variant appearance in text: CACNA1H: R788C

PubMed Link: 24277868

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: CACNA1H: R788C; rs3751664

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

---

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: CACNA1H: 2362C>T; Arg788Cys; rs3751664

PubMed Link: 23820649

Variant Present in the following documents:

• Main text
• 439_2013_Article_1331.pdf

View BVdb publication page

---

Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans.

Bmc Medical Genetics

Kidambi, Srividya S; Ghosh, Soumitra S; Kotchen, Jane M JM; Grim, Clarence E CE; Krishnaswami, Shanthi S; Kaldunski, Mary L ML; Cowley, Allen W AW; Patel, Shailendra B SB; Kotchen, Theodore A TA

Publication Date: 2012-04-11

Variant appearance in text: rs3751664

PubMed Link: 22494468

Variant Present in the following documents:

• Main text
• 1471-2350-13-27.pdf

View BVdb publication page

---

A review of genetics, arterial stiffness, and blood pressure in African Americans.

Journal Of Cardiovascular Translational Research

Hall, Jennifer L JL; Duprez, Daniel A DA; Barac, Ana A; Rich, Stephen S SS

Publication Date: 2012-06

Variant appearance in text: rs3751664

PubMed Link: 22492025

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The genetics of blood pressure and hypertension: the role of rare variation.

Cardiovascular Therapeutics

Doris, Peter A PA

Publication Date: 2011-02

Variant appearance in text: rs3751664

PubMed Link: 21129164

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Role of voltage-gated calcium channels in epilepsy.

Pflugers Archiv : European Journal Of Physiology

Zamponi, Gerald W GW; Lory, Philippe P; Perez-Reyes, Edward E

Publication Date: 2010-07

Variant appearance in text: CACNA1H: R788C

PubMed Link: 20091047

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A genome-wide association study of hypertension and blood pressure in African Americans.

Plos Genetics

Adeyemo, Adebowale A; Gerry, Norman N; Chen, Guanjie G; Herbert, Alan A; Doumatey, Ayo A; Huang, Hanxia H; Zhou, Jie J; Lashley, Kerrie K; Chen, Yuanxiu Y; Christman, Michael M; Rotimi, Charles C

Publication Date: 2009-07

Variant appearance in text: CACNA1H: R788C; rs3751664

PubMed Link: 19609347

Variant Present in the following documents:

• Main text
• pgen.1000564.pdf

View BVdb publication page

---

The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Vitko, Iuliia I; Bidaud, Isabelle I; Arias, Juan Manuel JM; Mezghrani, Alexandre A; Lory, Philippe P; Perez-Reyes, Edward E

Publication Date: 2007-01-10

Variant appearance in text: CACNA1H: R788C

PubMed Link: 17215393

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic variants in absence epilepsy: a contextual consideration of calcium current kinetics.

Epilepsy Currents

Lagrange, Andre A

Publication Date: 2006

Variant appearance in text: CACNA1H: R788C

PubMed Link: 16761074

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Vitko, Iuliia I; Chen, Yucai Y; Arias, Juan M JM; Shen, Yen Y; Wu, Xi-Ru XR; Perez-Reyes, Edward E

Publication Date: 2005-05-11

Variant appearance in text: CACNA1H: R788C; rs3751664

PubMed Link: 15888660

Variant Present in the following documents:

• Main text

View BVdb publication page

---