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: rs9897526

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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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs9897526

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs9897526

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Biomedicines

Bruno, Francesco F; Laganà, Valentina V; Di Lorenzo, Raffaele R; Bruni, Amalia C AC; Maletta, Raffaele R

Publication Date: 2022-09-15

Variant appearance in text: rs9897526

PubMed Link: 36140389

Variant Present in the following documents:

• biomedicines-10-02288.pdf

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: rs9897526

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.

Bmc Medicine

Su, Wei-Ming WM; Gu, Xiao-Jing XJ; Duan, Qing-Qing QQ; Jiang, Zheng Z; Gao, Xia X; Shang, Hui-Fang HF; Chen, Yong-Ping YP

Publication Date: 2022-06-27

Variant appearance in text: rs9897526

PubMed Link: 35754054

Variant Present in the following documents:

• Main text
• 12916_2022_Article_2411.pdf

View BVdb publication page

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Synaptic Elimination in Neurological Disorders.

Current Neuropharmacology

Cardozo, Pablo L PL; de Lima, Izabella B Q IBQ; Maciel, Esther M A EMA; Silva, Nathália C NC; Dobransky, Tomas T; Ribeiro, Fabíola M FM

Publication Date: 2019

Variant appearance in text: rs9897526

PubMed Link: 31161981

Variant Present in the following documents:

• Main text
• CN-17-1071.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: GRN: 264+21G>A; rs9897526

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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ALS and CHARGE syndrome: a clinical and genetic study.

Acta Neurologica Belgica

Ungaro, Carmine C; Citrigno, Luigi L; Trojsi, Francesca F; Sprovieri, Teresa T; Gentile, Giulia G; Muglia, Maria M; Monsurrò, Maria Rosaria MR; Tedeschi, Gioacchino G; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL

Publication Date: 2018-12

Variant appearance in text: rs9897526

PubMed Link: 30317490

Variant Present in the following documents:

• 13760_2018_1029_MOESM3_ESM.pdf

View BVdb publication page

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Progranulin: A key player in autoimmune diseases.

Cytokine

Jian, Jinlong J; Li, Guangfei G; Hettinghouse, Aubryanna A; Liu, Chuanju C

Publication Date: 2018-01

Variant appearance in text: rs9897526

PubMed Link: 27527809

Variant Present in the following documents:

• Main text

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: rs9897526

PubMed Link: 26724960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

Neurobiology Of Aging

Bernardi, Livia L; Frangipane, Francesca F; Smirne, Nicoletta N; Colao, Rosanna R; Puccio, Gianfranco G; Curcio, Sabrina Am SA; Mirabelli, Maria M; Maletta, Raffaele R; Anfossi, Maria M; Gallo, Maura M; Geracitano, Silvana S; Conidi, Maria Elena ME; Di Lorenzo, Raffale R; Clodomiro, Alessandra A; Cupidi, Chiara C; Marzano, Sandra S; Comito, Francesco F; Valenti, Vincenzo V; Zirilli, Maria Angela MA; Ghani, Mahdi M; Xi, Zhengrui Z; Sato, Christine C; Moreno, Danielle D; Borelli, Annelisa A; Leone, Rosa Anna RA; St George-Hyslop, Peter P; Rogaeva, Ekaterina E; Bruni, Amalia C AC

Publication Date: 2012-12

Variant appearance in text: rs9897526

PubMed Link: 22819134

Variant Present in the following documents:

• Main text

View BVdb publication page

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Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia.

Plos One

Galimberti, Daniela D; Dell'Osso, Bernardo B; Fenoglio, Chiara C; Villa, Chiara C; Cortini, Francesca F; Serpente, Maria M; Kittel-Schneider, Sarah S; Weigl, Johannes J; Neuner, Maria M; Volkert, Juliane J; Leonhard, C C; Olmes, David G DG; Kopf, Juliane J; Cantoni, Claudia C; Ridolfi, Elisa E; Palazzo, Carlotta C; Ghezzi, Laura L; Bresolin, Nereo N; Altamura, A C AC; Scarpini, Elio E; Reif, Andreas A

Publication Date: 2012

Variant appearance in text: rs9897526

PubMed Link: 22505994

Variant Present in the following documents:

• Main text
• pone.0032164.pdf

View BVdb publication page

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Novel progranulin mutation detected in 2 patients with FTLD.

Alzheimer Disease And Associated Disorders

Skoglund, Lena L; Matsui, Toshifumi T; Freeman, Stefanie H SH; Wallin, Anders A; Blom, Elin S ES; Frosch, Matthew P MP; Growdon, John H JH; Hyman, Bradley T BT; Lannfelt, Lars L; Ingelsson, Martin M; Glaser, Anna A

Publication Date: 2011

Variant appearance in text: rs9897526

PubMed Link: 20975516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.

Alzheimer Disease And Associated Disorders

Moreno, Fermín F; Alzualde, Ainhoa A; Camblor, Pablo Martínez PM; Barandiaran, Myriam M; Van Deerlin, Vivianna M VM; Gabilondo, Alazne A; Martí Massó, José F JF; López de Munain, Adolfo A; Indakoetxea, Begoña B

Publication Date: 2011

Variant appearance in text: rs9897526

PubMed Link: 20711061

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: rs9897526

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: rs9897526

PubMed Link: 19640594

Variant Present in the following documents:

• Main text

View BVdb publication page

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No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.

Neurobiology Of Aging

Del Bo, Roberto R; Corti, Stefania S; Santoro, Domenico D; Ghione, Isabella I; Fenoglio, Chiara C; Ghezzi, Serena S; Ranieri, Michela M; Galimberti, Daniela D; Mancuso, Michelangelo M; Siciliano, Gabriele G; Briani, Chiara C; Murri, Luigi L; Scarpini, Elio E; Schymick, Jennifer C JC; Traynor, Bryan J BJ; Bresolin, Nereo N; Comi, Giacomo P GP

Publication Date: 2011-06

Variant appearance in text: rs9897526

PubMed Link: 19632744

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: GRN: 264+21G>A; rs9897526

PubMed Link: 18723524

Variant Present in the following documents:

• ddn257_1.pdf

View BVdb publication page

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