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: rs850713

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: GRN: 462+24G>A; rs850713

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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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: rs850713

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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: rs850713

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_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: GRN: 462+24G>A; rs850713

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs850713

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: rs850713

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.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: GRN: 462+24G>A; rs850713

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Association Between Progranulin and Gaucher Disease.

Ebiomedicine

Jian, Jinlong J; Zhao, Shuai S; Tian, Qing-Yun QY; Liu, Helen H; Zhao, Yunpeng Y; Chen, Wen-Chi WC; Grunig, Gabriele G; Torres, Paola A PA; Wang, Betty C BC; Zeng, Bai B; Pastores, Gregory G; Tang, Wei W; Sun, Ying Y; Grabowski, Gregory A GA; Kong, Max Xiangtian MX; Wang, Guilin G; Chen, Ying Y; Liang, Fengxia F; Overkleeft, Herman S HS; Saunders-Pullman, Rachel R; Chan, Gerald L GL; Liu, Chuan-Ju CJ

Publication Date: 2016-09

Variant appearance in text: rs850713

PubMed Link: 27515686

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia.

Neurobiology Of Aging

Aswathy, Peethambaran Mallika PM; Jairani, Pushparajan Sulajamani PS; Raghavan, Sheela Kumari SK; Verghese, Joe J; Gopala, Srinivas S; Srinivas, Priya P; Mathuranath, Pavagada Sivasankara PS

Publication Date: 2016-03

Variant appearance in text: rs850713

PubMed Link: 26724960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia.

Alzheimer Disease And Associated Disorders

Ferrari, Raffaele R; Kapogiannis, Dimitrios D; Huey, Edward D ED; Grafman, Jordan J; Hardy, John J; Momeni, Parastoo P

Publication Date: 2010

Variant appearance in text: rs850713

PubMed Link: 20592581

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent insights into the molecular genetics of dementia.

Trends In Neurosciences

Rademakers, Rosa R; Rovelet-Lecrux, Anne A

Publication Date: 2009-08

Variant appearance in text: rs850713

PubMed Link: 19640594

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

Human Molecular Genetics

Rademakers, Rosa R; Eriksen, Jason L JL; Baker, Matt M; Robinson, Todd T; Ahmed, Zeshan Z; Lincoln, Sarah J SJ; Finch, Nicole N; Rutherford, Nicola J NJ; Crook, Richard J RJ; Josephs, Keith A KA; Boeve, Bradley F BF; Knopman, David S DS; Petersen, Ronald C RC; Parisi, Joseph E JE; Caselli, Richard J RJ; Wszolek, Zbigniew K ZK; Uitti, Ryan J RJ; Feldman, Howard H; Hutton, Michael L ML; Mackenzie, Ian R IR; Graff-Radford, Neill R NR; Dickson, Dennis W DW

Publication Date: 2008-12-01

Variant appearance in text: rs850713

PubMed Link: 18723524

Variant Present in the following documents:

• ddn257_1.pdf

View BVdb publication page

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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Brain : A Journal Of Neurology

Beck, Jonathan J; Rohrer, Jonathan D JD; Campbell, Tracy T; Isaacs, Adrian A; Morrison, Karen E KE; Goodall, Emily F EF; Warrington, Elizabeth K EK; Stevens, John J; Revesz, Tamas T; Holton, Janice J; Al-Sarraj, Safa S; King, Andrew A; Scahill, Rachael R; Warren, Jason D JD; Fox, Nick C NC; Rossor, Martin N MN; Collinge, John J; Mead, Simon S

Publication Date: 2008-03

Variant appearance in text: GRN: 462+24G>A

PubMed Link: 18234697

Variant Present in the following documents:

• Main text

View BVdb publication page

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