Publications:

---

APOBEC3-mediated mutagenesis in cancer: causes, clinical significance and therapeutic potential.

Journal Of Hematology & Oncology

Butler, Kelly K; Banday, A Rouf AR

Publication Date: 2023-03-28

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 36978147

Variant Present in the following documents:

• Main text
• 13045_2023_Article_1425.pdf

View BVdb publication page

---

A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: APOBEC3H: R18L

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

---

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

---

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: APOBEC3H: R18L; rs139293

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: APOBEC3H: R18L; rs139293

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Mechanisms of APOBEC3 mutagenesis in human cancer cells.

Nature

Petljak, Mia M; Dananberg, Alexandra A; Chu, Kevan K; Bergstrom, Erik N EN; Striepen, Josefine J; von Morgen, Patrick P; Chen, Yanyang Y; Shah, Hina H; Sale, Julian E JE; Alexandrov, Ludmil B LB; Stratton, Michael R MR; Maciejowski, John J

Publication Date: 2022-07

Variant appearance in text: rs139293

PubMed Link: 35859169

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Human APOBEC3 Variations and Viral Infection.

Viruses

Sadeghpour, Shiva S; Khodaee, Saeideh S; Rahnama, Mostafa M; Rahimi, Hamzeh H; Ebrahimi, Diako D

Publication Date: 2021-07-14

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 34372572

Variant Present in the following documents:

• Main text
• viruses-13-01366.pdf

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: APOBEC3H: 53G>T; R18L; rs139293

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: APOBEC3H: R18L

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Associations between the single nucleotide polymorphisms of APOBEC3A, APOBEC3B and APOBEC3H, and chronic hepatitis B progression and hepatocellular carcinoma in a Chinese population.

Molecular Medicine Reports

He, Xiuting X; Xu, Hongqin H; Wang, Xiaomei X; Wu, Jing J; Niu, Junqi J; Gao, Pujun P

Publication Date: 2019-09

Variant appearance in text: rs139293

PubMed Link: 31322199

Variant Present in the following documents:

• Main text
• mmr-20-03-2177.pdf

View BVdb publication page

---

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: APOBEC3H: R18L; rs139293

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

---

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: rs139293

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

---

Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa.

Bmc Medical Genetics

Matume, Nontokozo D ND; Tebit, Denis M DM; Gray, Laurie R LR; Turner, Stephen D SD; Rekosh, David D; Bessong, Pascal O PO; Hammarskjöld, Marie-Louise ML

Publication Date: 2019-01-19

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 30660178

Variant Present in the following documents:

• Main text
• 12881_2018_740_MOESM5_ESM.pdf
• 12881_2018_Article_740.pdf

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: APOBEC3H: 53G>T; Arg18Leu; rs139293

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

---

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics

Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,

Publication Date: 2018-03-06

Variant appearance in text: APOBEC3H: 53G>T; Arg18Leu; rs139293

PubMed Link: 29510755

Variant Present in the following documents:

• 12920_2018_338_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

---

APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Nature Communications

Chen, Ting-Wen TW; Lee, Chi-Ching CC; Liu, Hsuan H; Wu, Chi-Sheng CS; Pickering, Curtis R CR; Huang, Po-Jung PJ; Wang, Jing J; Chang, Ian Yi-Feng IY; Yeh, Yuan-Ming YM; Chen, Chih-De CD; Li, Hsin-Pai HP; Luo, Ji-Dung JD; Tan, Bertrand Chin-Ming BC; Chan, Timothy En Haw TEH; Hsueh, Chuen C; Chu, Lichieh Julie LJ; Chen, Yi-Ting YT; Zhang, Bing B; Yang, Chia-Yu CY; Wu, Chih-Ching CC; Hsu, Chia-Wei CW; See, Lai-Chu LC; Tang, Petrus P; Yu, Jau-Song JS; Liao, Wei-Chao WC; Chiang, Wei-Fan WF; Rodriguez, Henry H; Myers, Jeffrey N JN; Chang, Kai-Ping KP; Chang, Yu-Sun YS

Publication Date: 2017-09-06

Variant appearance in text: rs139293

PubMed Link: 28878238

Variant Present in the following documents:

• 41467_2017_493_MOESM10_ESM.pdf

View BVdb publication page

---

The DNA cytosine deaminase APOBEC3H haplotype I likely contributes to breast and lung cancer mutagenesis.

Nature Communications

Starrett, Gabriel J GJ; Luengas, Elizabeth M EM; McCann, Jennifer L JL; Ebrahimi, Diako D; Temiz, Nuri A NA; Love, Robin P RP; Feng, Yuqing Y; Adolph, Madison B MB; Chelico, Linda L; Law, Emily K EK; Carpenter, Michael A MA; Harris, Reuben S RS

Publication Date: 2016-09-21

Variant appearance in text: rs139293

PubMed Link: 27650891

Variant Present in the following documents:

• ncomms12918.pdf

View BVdb publication page

---

APOBEC3 proteins can copackage and comutate HIV-1 genomes.

Nucleic Acids Research

Desimmie, Belete A BA; Burdick, Ryan C RC; Izumi, Taisuke T; Doi, Hibiki H; Shao, Wei W; Alvord, W Gregory WG; Sato, Kei K; Koyanagi, Yoshio Y; Jones, Sara S; Wilson, Eleanor E; Hill, Shawn S; Maldarelli, Frank F; Hu, Wei-Shau WS; Pathak, Vinay K VK

Publication Date: 2016-09-19

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 27439715

Variant Present in the following documents:

• Main text
• gkw653.pdf

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: rs139293

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

The eQTL-missense polymorphisms of APOBEC3H are associated with lung cancer risk in a Han Chinese population.

Scientific Reports

Zhu, Meng M; Wang, Yuzhuo Y; Wang, Cheng C; Shen, Wei W; Liu, Jia J; Geng, Liguo L; Cheng, Yang Y; Dai, Juncheng J; Jin, Guangfu G; Ma, Hongxia H; Hu, Zhibin Z; Shen, Hongbing H

Publication Date: 2015-10-13

Variant appearance in text: APOBEC3H: Arg18Leu; rs139293

PubMed Link: 26459911

Variant Present in the following documents:

• Main text
• srep14969.pdf

View BVdb publication page

---

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

---

Natural polymorphisms in human APOBEC3H and HIV-1 Vif combine in primary T lymphocytes to affect viral G-to-A mutation levels and infectivity.

Plos Genetics

Refsland, Eric W EW; Hultquist, Judd F JF; Luengas, Elizabeth M EM; Ikeda, Terumasa T; Shaban, Nadine M NM; Law, Emily K EK; Brown, William L WL; Reilly, Cavan C; Emerman, Michael M; Harris, Reuben S RS

Publication Date: 2014-11

Variant appearance in text: rs139293

PubMed Link: 25411794

Variant Present in the following documents:

• Main text
• pgen.1004761.pdf

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: APOBEC3H: R18L; rs139293

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Human APOBEC3 induced mutation of human immunodeficiency virus type-1 contributes to adaptation and evolution in natural infection.

Plos Pathogens

Kim, Eun-Young EY; Lorenzo-Redondo, Ramon R; Little, Susan J SJ; Chung, Yoon-Seok YS; Phalora, Prabhjeet K PK; Maljkovic Berry, Irina I; Archer, John J; Penugonda, Sudhir S; Fischer, Will W; Richman, Douglas D DD; Bhattacharya, Tanmoy T; Malim, Michael H MH; Wolinsky, Steven M SM

Publication Date: 2014-07

Variant appearance in text: APOBEC3H: R18L

PubMed Link: 25080100

Variant Present in the following documents:

• Main text
• ppat.1004281.pdf

View BVdb publication page

---

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: APOBEC3H: R18L

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

View BVdb publication page

---

Identification and antiviral activity of common polymorphisms in the APOBEC3 locus in human populations.

Virology

Duggal, Nisha K NK; Fu, Wenqing W; Akey, Joshua M JM; Emerman, Michael M

Publication Date: 2013-09-01

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 23755966

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Analysis of human APOBEC3H haplotypes and anti-human immunodeficiency virus type 1 activity.

Journal Of Virology

Wang, Xiaojun X; Abudu, Aierken A; Son, Sungmo S; Dang, Ying Y; Venta, Patrick J PJ; Zheng, Yong-Hui YH

Publication Date: 2011-04

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 21270145

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A single amino acid difference in human APOBEC3H variants determines HIV-1 Vif sensitivity.

Journal Of Virology

Zhen, Anjie A; Wang, Tao T; Zhao, Ke K; Xiong, Yong Y; Yu, Xiao-Fang XF

Publication Date: 2010-02

Variant appearance in text: APOBEC3H: R18L

PubMed Link: 19939923

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms and splice variants influence the antiretroviral activity of human APOBEC3H.

Journal Of Virology

Harari, Ariana A; Ooms, Marcel M; Mulder, Lubbertus C F LC; Simon, Viviana V

Publication Date: 2009-01

Variant appearance in text: APOBEC3H: R18L; rs139293

PubMed Link: 18945781

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Antiretroelement activity of APOBEC3H was lost twice in recent human evolution.

Cell Host & Microbe

OhAinle, Molly M; Kerns, Julie A JA; Li, Melody M H MM; Malik, Harmit S HS; Emerman, Michael M

Publication Date: 2008-09-11

Variant appearance in text: APOBEC3H: R18L

PubMed Link: 18779051

Variant Present in the following documents:

• Main text

View BVdb publication page

---