Publications:

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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: AUP1: 524+100T>G; rs10779958

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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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: AUP1: 524+100T>G; rs10779958

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.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: rs10779958

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A set of novel SNP loci for differentiating continental populations and three Chinese populations.

Peerj

Jin, Xiao-Ye XY; Wei, Yuan-Yuan YY; Lan, Qiong Q; Cui, Wei W; Chen, Chong C; Guo, Yu-Xin YX; Fang, Ya-Ting YT; Zhu, Bo-Feng BF

Publication Date: 2019

Variant appearance in text: rs10779958

PubMed Link: 30956897

Variant Present in the following documents:

• Main text
• peerj-07-6508.pdf

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: rs10779958

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs10779958

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs10779958

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria.

Human Genetics

Lin, Chin-Hsien CH; Chen, Meng-Ling ML; Chen, Grace Shiahuy GS; Tai, Chun-Hwei CH; Wu, Ruey-Meei RM

Publication Date: 2011-12

Variant appearance in text: rs10779958

PubMed Link: 21701785

Variant Present in the following documents:

• Main text
• 439_2011_Article_1041.pdf

View BVdb publication page

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A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease.

Neurobiology Of Aging

Krüger, Rejko R; Sharma, Manu M; Riess, Olaf O; Gasser, Thomas T; Van Broeckhoven, Christine C; Theuns, Jessie J; Aasly, Jan J; Annesi, Grazia G; Bentivoglio, Anna Rita AR; Brice, Alexis A; Djarmati, Ana A; Elbaz, Alexis A; Farrer, Matthew M; Ferrarese, Carlo C; Gibson, J Mark JM; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Klein, Christine C; Lambert, Jean-Charles JC; Lesage, Suzanne S; Lin, Juei-Jueng JJ; Lynch, Timothy T; Mellick, George D GD; de Nigris, Francesa F; Opala, Grzegorz G; Prigione, Alessandro A; Quattrone, Aldo A; Ross, Owen A OA; Satake, Wataru W; Silburn, Peter A PA; Tan, Eng King EK; Toda, Tatsushi T; Tomiyama, Hiroyuki H; Wirdefeldt, Karin K; Wszolek, Zbigniew Z; Xiromerisiou, Georgia G; Maraganore, Demetrius M DM; ,

Publication Date: 2011-03

Variant appearance in text: rs10779958

PubMed Link: 20036034

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation of Omi/HtrA2 and Parkinson's disease.

Parkinsonism & Related Disorders

Ross, Owen A OA; Soto, Alexandra I AI; Vilariño-Güell, Carles C; Heckman, Michael G MG; Diehl, Nancy N NN; Hulihan, Mary M MM; Aasly, Jan O JO; Sando, Sigrid S; Gibson, J Mark JM; Lynch, Timothy T; Krygowska-Wajs, Anna A; Opala, Grzegorz G; Barcikowska, Maria M; Czyzewski, Krzysztof K; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Farrer, Matthew J MJ

Publication Date: 2008-11

Variant appearance in text: rs10779958

PubMed Link: 18790661

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.

Bmc Medical Genomics

Kardia, Sharon Lr SL; Greene, M Todd MT; Boerwinkle, Eric E; Turner, Stephen T ST; Kullo, Iftikhar J IJ

Publication Date: 2008-05-15

Variant appearance in text: rs10779958

PubMed Link: 18482449

Variant Present in the following documents:

• Main text
• 1755-8794-1-16.pdf

View BVdb publication page

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