Publications:

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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: TPCN2: G734E

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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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TPCN2: 2201G>A; Gly734Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation.

Nature Communications

Wang, Qiaochu Q; Wang, Zengge Z; Wang, Yizhen Y; Qi, Zhan Z; Bai, Dayong D; Wang, Chentong C; Chen, Yuanying Y; Xu, Wenjian W; Zhu, Xili X; Jeon, Jaepyo J; Xiong, Jian J; Hao, Chanjuan C; Zhu, Michael Xi MX; Wei, Aihua A; Li, Wei W

Publication Date: 2023-01-14

Variant appearance in text: TPC2: G734E

PubMed Link: 36641477

Variant Present in the following documents:

• Main text
• 41467_2023_Article_35786.pdf

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: TPCN2: G734E

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Electrophysiology of Endolysosomal Two-Pore Channels: A Current Account.

Cells

Patel, Sandip S; Yuan, Yu Y; Chen, Cheng-Chang CC; Jaślan, Dawid D; Gunaratne, Gihan G; Grimm, Christian C; Rahman, Taufiq T; Marchant, Jonathan S JS

Publication Date: 2022-08-02

Variant appearance in text: TPC2: G734E

PubMed Link: 35954212

Variant Present in the following documents:

• Main text
• cells-11-02368.pdf

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: TPCN2: G734E

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology

Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ

Publication Date: 2021-11-04

Variant appearance in text: TPCN2: Gly734Glu; rs3829241

PubMed Link: 34737440

Variant Present in the following documents:

• Main text
• 42003_2021_2764_MOESM2_ESM.pdf
• 42003_2021_Article_2764.pdf

View BVdb publication page

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Endolysosomal Cation Channels and MITF in Melanocytes and Melanoma.

Biomolecules

Abrahamian, Carla C; Grimm, Christian C

Publication Date: 2021-07-13

Variant appearance in text: TPC2: G734E; rs3829241

PubMed Link: 34356645

Variant Present in the following documents:

• Main text
• biomolecules-11-01021.pdf

View BVdb publication page

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The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank.

Npj Genomic Medicine

Alharbi, Abeer F AF; Parrington, John J

Publication Date: 2021-07-12

Variant appearance in text: rs3829241

PubMed Link: 34253731

Variant Present in the following documents:

• Main text
• 41525_2021_Article_221.pdf

View BVdb publication page

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Flavonoids increase melanin production and reduce proliferation, migration and invasion of melanoma cells by blocking endolysosomal/melanosomal TPC2.

Scientific Reports

Netcharoensirisuk, Ponsawan P; Abrahamian, Carla C; Tang, Rachel R; Chen, Cheng-Chang CC; Rosato, Anna Scotto AS; Beyers, Wyatt W; Chao, Yu-Kai YK; Filippini, Antonio A; Di Pietro, Santiago S; Bartel, Karin K; Biel, Martin M; Vollmar, Angelika M AM; Umehara, Kaoru K; De-Eknamkul, Wanchai W; Grimm, Christian C

Publication Date: 2021-04-19

Variant appearance in text: rs3829241

PubMed Link: 33875769

Variant Present in the following documents:

• Main text

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: TPCN2: G734E; rs3829241

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: TPCN2: 2201G>A; G734E; rs3829241

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Germline Genetic Variants of Viral Entry and Innate Immunity May Influence Susceptibility to SARS-CoV-2 Infection: Toward a Polygenic Risk Score for Risk Stratification.

Frontiers In Immunology

Grolmusz, Vince Kornél VK; Bozsik, Anikó A; Papp, János J; Patócs, Attila A

Publication Date: 2021

Variant appearance in text: rs3829241

PubMed Link: 33763088

Variant Present in the following documents:

• Main text
• fimmu-12-653489.pdf

View BVdb publication page

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Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.

Plos Genetics

Batai, Ken K; Cui, Zuxi Z; Arora, Amit A; Shah-Williams, Ebony E; Hernandez, Wenndy W; Ruden, Maria M; Hollowell, Courtney M P CMP; Hooker, Stanley E SE; Bathina, Madhavi M; Murphy, Adam B AB; Bonilla, Carolina C; Kittles, Rick A RA

Publication Date: 2021-02

Variant appearance in text: rs3829241

PubMed Link: 33600456

Variant Present in the following documents:

• Main text
• pgen.1009319.pdf

View BVdb publication page

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Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open

Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y

Publication Date: 2021-02-09

Variant appearance in text: rs3829241

PubMed Link: 33495209

Variant Present in the following documents:

• Main text

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: rs3829241

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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Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.

Plos Genetics

Böck, Julia J; Krogsaeter, Einar E; Passon, Marcel M; Chao, Yu-Kai YK; Sharma, Sapna S; Grallert, Harald H; Peters, Annette A; Grimm, Christian C

Publication Date: 2021-01

Variant appearance in text: TPC2: G734E; rs3829241

PubMed Link: 33465068

Variant Present in the following documents:

• Main text
• pgen.1009236.pdf
• pgen.1009236.s009.xlsx, sheet 1

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: TPCN2: 2201G>A; G734E; rs3829241

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics

Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W

Publication Date: 2020-08-05

Variant appearance in text: rs3829241

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

View BVdb publication page

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Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes

Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S

Publication Date: 2020-12-01

Variant appearance in text: TPCN2: G734E

PubMed Link: 32333855

Variant Present in the following documents:

• Main text
• main.pdf

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: rs3829241

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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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: TPCN2: G734E

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

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: TPCN2: 2201G>A; Gly734Glu

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 7

View BVdb publication page

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Endolysosomal Ca2+ Signaling in Cancer: The Role of TPC2, From Tumorigenesis to Metastasis.

Frontiers In Cell And Developmental Biology

Alharbi, Abeer F AF; Parrington, John J

Publication Date: 2019

Variant appearance in text: rs3829241

PubMed Link: 31867325

Variant Present in the following documents:

• Main text
• fcell-07-00302.pdf

View BVdb publication page

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: TPCN2: G734E; rs3829241

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_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: TPCN2: G734E; rs3829241

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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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: TPCN2: G734E; rs3829241

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

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: TPCN2: 2201G>A; Gly734Glu; rs3829241

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: TPCN2: G734E; rs3829241

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The protein interaction networks of mucolipins and two-pore channels.

Biochimica Et Biophysica Acta. Molecular Cell Research

Krogsaeter, Einar K EK; Biel, Martin M; Wahl-Schott, Christian C; Grimm, Christian C

Publication Date: 2019-07

Variant appearance in text: TPC2: G734E

PubMed Link: 30395881

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes.

Genes

Dziewulska, Anna A; Dobosz, Aneta M AM; Dobrzyn, Agnieszka A

Publication Date: 2018-07-26

Variant appearance in text: rs3829241

PubMed Link: 30050001

Variant Present in the following documents:

• Main text
• genes-09-00374.pdf

View BVdb publication page

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: TPCN2: G734E; rs3829241

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

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: TPCN2: 2201G>A; G734E; rs3829241

PubMed Link: 29974678

Variant Present in the following documents:

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

View BVdb publication page

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Two-pore channels and disease.

Biochimica Et Biophysica Acta. Molecular Cell Research

Patel, Sandip S; Kilpatrick, Bethan S BS

Publication Date: 2018-11

Variant appearance in text: TPC2: G734E; rs3829241

PubMed Link: 29746898

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics

Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD

Publication Date: 2018-05

Variant appearance in text: rs3829241

PubMed Link: 29662168

Variant Present in the following documents:

• NIHMS76542-supplement-Supplementary_notes_and_tables.pdf

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: TPCN2: G734E; rs3829241

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.

American Journal Of Human Genetics

Laso-Jadart, Romuald R; Harmant, Christine C; Quach, Hélène H; Zidane, Nora N; Tyler-Smith, Chris C; Mehdi, Qasim Q; Ayub, Qasim Q; Quintana-Murci, Lluis L; Patin, Etienne E

Publication Date: 2017-12-07

Variant appearance in text: rs3829241

PubMed Link: 29129317

Variant Present in the following documents:

• Main text

View BVdb publication page

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TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Chao, Yu-Kai YK; Schludi, Verena V; Chen, Cheng-Chang CC; Butz, Elisabeth E; Nguyen, O N Phuong ONP; Müller, Martin M; Krüger, Jens J; Kammerbauer, Claudia C; Ben-Johny, Manu M; Vollmar, Angelika M AM; Berking, Carola C; Biel, Martin M; Wahl-Schott, Christian A CA; Grimm, Christian C

Publication Date: 2017-10-10

Variant appearance in text: TPC2: G734E; rs3829241

PubMed Link: 28923947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adaptation of human skin color in various populations.

Hereditas

Deng, Lian L; Xu, Shuhua S

Publication Date: 2018

Variant appearance in text: rs3829241

PubMed Link: 28701907

Variant Present in the following documents:

• Main text

View BVdb publication page

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On the structure and mechanism of two-pore channels.

The Febs Journal

Kintzer, Alexander F AF; Stroud, Robert M RM

Publication Date: 2018-01

Variant appearance in text: TPC2: G734E

PubMed Link: 28656706

Variant Present in the following documents:

• Main text

View BVdb publication page

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Global skin colour prediction from DNA.

Human Genetics

Walsh, Susan S; Chaitanya, Lakshmi L; Breslin, Krystal K; Muralidharan, Charanya C; Bronikowska, Agnieszka A; Pospiech, Ewelina E; Koller, Julia J; Kovatsi, Leda L; Wollstein, Andreas A; Branicki, Wojciech W; Liu, Fan F; Kayser, Manfred M

Publication Date: 2017-07

Variant appearance in text: rs3829241

PubMed Link: 28500464

Variant Present in the following documents:

• Main text
• 439_2017_Article_1808.pdf

View BVdb publication page

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Two-Pore Channels: Catalyzers of Endolysosomal Transport and Function.

Frontiers In Pharmacology

Grimm, Christian C; Chen, Cheng-Chang CC; Wahl-Schott, Christian C; Biel, Martin M

Publication Date: 2017

Variant appearance in text: TPC2: G734E

PubMed Link: 28223936

Variant Present in the following documents:

• Main text
• fphar-08-00045.pdf

View BVdb publication page

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The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics

Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN

Publication Date: 2016-10-06

Variant appearance in text: rs3829241

PubMed Link: 27716216

Variant Present in the following documents:

• 12920_2016_223_MOESM1_ESM.pdf

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: TPCN2: G734E; rs3829241

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: TPCN2: G734E

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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