Publications:

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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: rs3767141

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: HSPG2: 574+195G>A; rs3767141

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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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: rs3767141

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: HSPG2: 574+195G>A; rs3767141

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: HSPG2: 574+195G>A; rs3767141

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Association of the HSPG2 gene with neuroleptic-induced tardive dyskinesia.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Syu, Aoi A; Ishiguro, Hiroki H; Inada, Toshiya T; Horiuchi, Yasue Y; Tanaka, Syunsuke S; Ishikawa, Maya M; Arai, Makoto M; Itokawa, Masanari M; Niizato, Kazuhiro K; Iritani, Shuji S; Ozaki, Norio N; Takahashi, Makoto M; Kakita, Akiyoshi A; Takahashi, Hitoshi H; Nawa, Hiroyuki H; Keino-Masu, Kazuko K; Arikawa-Hirasawa, Eri E; Arinami, Tadao T

Publication Date: 2010-04

Variant appearance in text: rs3767141

PubMed Link: 20072119

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

Plos Genetics

Soranzo, Nicole N; Rivadeneira, Fernando F; Chinappen-Horsley, Usha U; Malkina, Ida I; Richards, J Brent JB; Hammond, Naomi N; Stolk, Lisette L; Nica, Alexandra A; Inouye, Michael M; Hofman, Albert A; Stephens, Jonathan J; Wheeler, Eleanor E; Arp, Pascal P; Gwilliam, Rhian R; Jhamai, P Mila PM; Potter, Simon S; Chaney, Amy A; Ghori, Mohammed J R MJ; Ravindrarajah, Radhi R; Ermakov, Sergey S; Estrada, Karol K; Pols, Huibert A P HA; Williams, Frances M FM; McArdle, Wendy L WL; van Meurs, Joyce B JB; Loos, Ruth J F RJ; Dermitzakis, Emmanouil T ET; Ahmadi, Kourosh R KR; Hart, Deborah J DJ; Ouwehand, Willem H WH; Wareham, Nicholas J NJ; Barroso, Inês I; Sandhu, Manjinder S MS; Strachan, David P DP; Livshits, Gregory G; Spector, Timothy D TD; Uitterlinden, André G AG; Deloukas, Panos P

Publication Date: 2009-04

Variant appearance in text: rs3767141

PubMed Link: 19343178

Variant Present in the following documents:

• Main text
• pgen.1000445.pdf

View BVdb publication page

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