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: HLA-C: P71P; rs1050414

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Psoriasis and cardiovascular disease risk in European and East Asian populations: evidence from meta-analysis and Mendelian randomization analysis.

Bmc Medicine

Zhang, Liming L; Wang, Yuxiang Y; Qiu, Li L; Wu, Jian J

Publication Date: 2022-11-01

Variant appearance in text: rs1050414

PubMed Link: 36320003

Variant Present in the following documents:

• Main text
• 12916_2022_Article_2617.pdf

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: HLA-C: P71P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

---

Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling.

Arthritis & Rheumatology (Hoboken, N.J.)

Soomro, Mehreen M; Stadler, Michael M; Dand, Nick N; Bluett, James J; Jadon, Deepak D; Jalali-Najafabadi, Farideh F; Duckworth, Michael M; Ho, Pauline P; Marzo-Ortega, Helena H; Helliwell, Philip S PS; Ryan, Anthony W AW; Kane, David D; Korendowych, Eleanor E; Simpson, Michael A MA; Packham, Jonathan J; McManus, Ross R; Gabay, Cem C; Lamacchia, Céline C; Nissen, Michael J MJ; Brown, Matthew A MA; Verstappen, Suzanne M M SMM; Van Staa, Tjeerd T; Barker, Jonathan N JN; Smith, Catherine H CH; , ; , ; FitzGerald, Oliver O; McHugh, Neil N; Warren, Richard B RB; Bowes, John J; Barton, Anne A

Publication Date: 2022-09

Variant appearance in text: rs1050414

PubMed Link: 35507331

Variant Present in the following documents:

• Main text
• ART-74-1535.pdf

View BVdb publication page

---

MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology

Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2021

Variant appearance in text: rs1050414

PubMed Link: 34650566

Variant Present in the following documents:

• Table_3.xlsx, sheet 3
• Table_3.xlsx, sheet 4
• Table_3.xlsx, sheet 1
• Table_3.xlsx, sheet 5
• Table_3.xlsx, sheet 2

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: HLA-C: 213G>C; rs1050414

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: HLA-C: 213G>C; rs1050414

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

---

Psoriasis patients demonstrate HLA-Cw*06:02 allele dosage-dependent T cell proliferation when treated with hair follicle-derived keratin 17 protein.

Scientific Reports

Yunusbaeva, Milyausha M; Valiev, Ruslan R; Bilalov, Fanil F; Sultanova, Zilya Z; Sharipova, Leyla L; Yunusbayev, Bayazit B

Publication Date: 2018-04-17

Variant appearance in text: rs1050414

PubMed Link: 29666398

Variant Present in the following documents:

• Main text
• 41598_2018_Article_24491.pdf

View BVdb publication page

---

Psoriasis and inflammatory bowel disease: links and risks.

Psoriasis (Auckland, N.Z.)

Vlachos, Christoforos C; Gaitanis, Georgios G; Katsanos, Konstantinos H KH; Christodoulou, Dimitrios K DK; Tsianos, Epameinondas E; Bassukas, Ioannis D ID

Publication Date: 2016

Variant appearance in text: rs1050414

PubMed Link: 29387596

Variant Present in the following documents:

• Main text
• ptt-6-073.pdf

View BVdb publication page

---

Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.

American Journal Of Human Genetics

Stuart, Philip E PE; Nair, Rajan P RP; Tsoi, Lam C LC; Tejasvi, Trilokraj T; Das, Sayantan S; Kang, Hyun Min HM; Ellinghaus, Eva E; Chandran, Vinod V; Callis-Duffin, Kristina K; Ike, Robert R; Li, Yanming Y; Wen, Xiaoquan X; Enerbäck, Charlotta C; Gudjonsson, Johann E JE; Kõks, Sulev S; Kingo, Külli K; Esko, Tõnu T; Mrowietz, Ulrich U; Reis, Andre A; Wichmann, H Erich HE; Gieger, Christian C; Hoffmann, Per P; Nöthen, Markus M MM; Winkelmann, Juliane J; Kunz, Manfred M; Moreta, Elvia G EG; Mease, Philip J PJ; Ritchlin, Christopher T CT; Bowcock, Anne M AM; Krueger, Gerald G GG; Lim, Henry W HW; Weidinger, Stephan S; Weichenthal, Michael M; Voorhees, John J JJ; Rahman, Proton P; Gregersen, Peter K PK; Franke, Andre A; Gladman, Dafna D DD; Abecasis, Gonçalo R GR; Elder, James T JT

Publication Date: 2015-12-03

Variant appearance in text: rs1050414

PubMed Link: 26626624

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: HLA-C: P71P; rs1050414

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Plos One

Egan, Jan B JB; Barrett, Michael T MT; Champion, Mia D MD; Middha, Sumit S; Lenkiewicz, Elizabeth E; Evers, Lisa L; Francis, Princy P; Schmidt, Jessica J; Shi, Chang-Xin CX; Van Wier, Scott S; Badar, Sandra S; Ahmann, Gregory G; Kortuem, K Martin KM; Boczek, Nicole J NJ; Fonseca, Rafael R; Craig, David W DW; Carpten, John D JD; Borad, Mitesh J MJ; Stewart, A Keith AK

Publication Date: 2014

Variant appearance in text: HLA-C: P71P

PubMed Link: 24505276

Variant Present in the following documents:

• pone.0087113.s004.xls, sheet 1

View BVdb publication page

---

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

Plos One

Clop, Alex A; Bertoni, Anna A; Spain, Sarah L SL; Simpson, Michael A MA; Pullabhatla, Venu V; Tonda, Raul R; Hundhausen, Christian C; Di Meglio, Paola P; De Jong, Pieter P; Hayday, Adrian C AC; Nestle, Frank O FO; Barker, Jonathan N JN; Bell, Robert J A RJ; Capon, Francesca F; Trembath, Richard C RC

Publication Date: 2013

Variant appearance in text: rs1050414

PubMed Link: 23990973

Variant Present in the following documents:

• Main text
• pone.0071690.pdf

View BVdb publication page

---