Publications:

---

Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: AP1S3: 97C>T; R33W

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

---

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Rmd Open

Atschekzei, Faranaz F; Dubrowinskaja, Natalia N; Anim, Manfred M; Thiele, Thea T; Witte, Torsten T; Sogkas, Georgios G

Publication Date: 2022-09

Variant appearance in text: AP1S3: 97C>T; Arg33Trp; rs138292988

PubMed Link: 36113963

Variant Present in the following documents:

• Main text
• rmdopen-2022-002561.pdf

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: AP1S3: R33W; rs138292988

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Advances in the pathogenesis of psoriasis: from keratinocyte perspective.

Cell Death & Disease

Zhou, Xue X; Chen, Youdong Y; Cui, Lian L; Shi, Yuling Y; Guo, Chunyuan C

Publication Date: 2022-01-24

Variant appearance in text: AP1S3: Arg33Trp

PubMed Link: 35075118

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.

Dermatology And Therapy

Sugiura, Kazumitsu K

Publication Date: 2022-02

Variant appearance in text: AP1S3: 97C>T; Arg33Trp

PubMed Link: 35060076

Variant Present in the following documents:

• Main text
• 13555_2021_Article_677.pdf

View BVdb publication page

---

Generalized pustular psoriasis (von Zumbusch).

Anais Brasileiros De Dermatologia

Romiti, Ricardo R; Hirayama, André Luís da Silva ALDS; Arnone, Marcelo M; Magalhães, Renata Ferreira RF

Publication Date: 2022

Variant appearance in text: AP1S3: Arg33Trp

PubMed Link: 34838431

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Generalized pustular psoriasis (von Zumbusch).

Anais Brasileiros De Dermatologia

Romiti, Ricardo R; Hirayama, André Luís da Silva ALDS; Arnone, Marcelo M; Magalhães, Renata Ferreira RF

Publication Date: 2021-11-24

Variant appearance in text: AP1S3: Arg33Trp

PubMed Link: 34838431

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: AP1S3: 97C>T; R33W

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

---

An update on genetic basis of generalized pustular psoriasis (Review).

International Journal Of Molecular Medicine

Zhou, Jiahong J; Luo, Qing Q; Cheng, Yang Y; Wen, Xia X; Liu, Jinbo J

Publication Date: 2021-06

Variant appearance in text: AP1S3: 97C>T; Arg33Trp

PubMed Link: 33955502

Variant Present in the following documents:

• Main text

View BVdb publication page

---

"Autoinflammatory psoriasis"-genetics and biology of pustular psoriasis.

Cellular & Molecular Immunology

Uppala, Ranjitha R; Tsoi, Lam C LC; Harms, Paul W PW; Wang, Bo B; Billi, Allison C AC; Maverakis, Emanual E; Michelle Kahlenberg, J J; Ward, Nicole L NL; Gudjonsson, Johann E JE

Publication Date: 2021-02

Variant appearance in text: AP1S3: Arg33Trp

PubMed Link: 32814870

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.

American Journal Of Human Genetics

Vergnano, Marta M; Mockenhaupt, Maja M; Benzian-Olsson, Natashia N; Paulmann, Maren M; Grys, Katarzyna K; Mahil, Satveer K SK; Chaloner, Charlotte C; Barbosa, Ines A IA; August, Suzannah S; Burden, A David AD; Choon, Siew-Eng SE; Cooper, Hywel H; Navarini, Alex A AA; Reynolds, Nick J NJ; Wahie, Shyamal S; Warren, Richard B RB; Wright, Andrew A; , ; Huffmeier, Ulrike U; Baum, Patrick P; Visvanathan, Sudha S; Barker, Jonathan N JN; Smith, Catherine H CH; Capon, Francesca F

Publication Date: 2020-09-03

Variant appearance in text: AP1S3: 97C>T; Arg33Trp

PubMed Link: 32758448

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

---

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: AP1S3: 97C>T; Arg33Trp; rs138292988

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Coatopathies: Genetic Disorders of Protein Coats.

Annual Review Of Cell And Developmental Biology

Dell'Angelica, Esteban C EC; Bonifacino, Juan S JS

Publication Date: 2019-10-06

Variant appearance in text: AP1S3: R33W

PubMed Link: 31399000

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: AP1S3: R33W

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 28
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

---

Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: AP1S3: 97C>T; R33W; rs138292988

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs138292988

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

---

Clinical and genetic differences between pustular psoriasis subtypes.

The Journal Of Allergy And Clinical Immunology

Twelves, Sophie S; Mostafa, Alshimaa A; Dand, Nick N; Burri, Elias E; Farkas, Katalin K; Wilson, Rosemary R; Cooper, Hywel L HL; Irvine, Alan D AD; Oon, Hazel H HH; Kingo, Külli K; Köks, Sulev S; Mrowietz, Ulrich U; Puig, Luis L; Reynolds, Nick N; Tan, Eugene Sern-Ting ES; Tanew, Adrian A; Torz, Kaspar K; Trattner, Hannes H; Valentine, Mark M; Wahie, Shyamal S; Warren, Richard B RB; Wright, Andrew A; Bata-Csörgő, Zsuzsa Z; Szell, Marta M; Griffiths, Christopher E M CEM; Burden, A David AD; Choon, Siew-Eng SE; Smith, Catherine H CH; Barker, Jonathan N JN; Navarini, Alexander A AA; Capon, Francesca F

Publication Date: 2019-03

Variant appearance in text: AP1S3: Arg33Trp

PubMed Link: 30036598

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: AP1S3: R33W; rs138292988

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

---

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: AP1S3: R33W; rs138292988

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

View BVdb publication page

---

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: AP1S3: 97C>T; R33W; rs138292988

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.

The Journal Of Investigative Dermatology

Mahil, Satveer K SK; Twelves, Sophie S; Farkas, Katalin K; Setta-Kaffetzi, Niovi N; Burden, A David AD; Gach, Joanna E JE; Irvine, Alan D AD; Képíró, László L; Mockenhaupt, Maja M; Oon, Hazel H HH; Pinner, Jason J; Ranki, Annamari A; Seyger, Marieke M B MMB; Soler-Palacin, Pere P; Storan, Eoin R ER; Tan, Eugene S ES; Valeyrie-Allanore, Laurence L; Young, Helen S HS; Trembath, Richard C RC; Choon, Siew-Eng SE; Szell, Marta M; Bata-Csorgo, Zsuzsanna Z; Smith, Catherine H CH; Di Meglio, Paola P; Barker, Jonathan N JN; Capon, Francesca F

Publication Date: 2016-11

Variant appearance in text: AP1S3: Arg33Trp

PubMed Link: 27388993

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: AP1S3: R33W

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

---

Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: AP1S3: R33W

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Plos One

Fujikura, Kohei K

Publication Date: 2016

Variant appearance in text: rs138292988

PubMed Link: 27219052

Variant Present in the following documents:

• Main text
• pone.0155552.pdf
• pone.0155552.s003.pdf

View BVdb publication page

---

Newly recognized Mendelian disorders with rheumatic manifestations.

Current Opinion In Rheumatology

de Jesus, Adriana Almeida AA; Goldbach-Mansky, Raphaela R

Publication Date: 2015-09

Variant appearance in text: AP1S3: R33W

PubMed Link: 26196376

Variant Present in the following documents:

• Main text

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: AP1S3: R33W

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.

American Journal Of Human Genetics

Setta-Kaffetzi, Niovi N; Simpson, Michael A MA; Navarini, Alexander A AA; Patel, Varsha M VM; Lu, Hui-Chun HC; Allen, Michael H MH; Duckworth, Michael M; Bachelez, Hervé H; Burden, A David AD; Choon, Siew-Eng SE; Griffiths, Christopher E M CE; Kirby, Brian B; Kolios, Antonios A; Seyger, Marieke M B MM; Prins, Christa C; Smahi, Asma A; Trembath, Richard C RC; Fraternali, Franca F; Smith, Catherine H CH; Barker, Jonathan N JN; Capon, Francesca F

Publication Date: 2014-05-01

Variant appearance in text: AP1S3: 97C>T; Arg33Trp; rs138292988

PubMed Link: 24791904

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: AP1S3: R33W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

---