Publications:

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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: LRP8: D874D; rs3737983

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: LRP8: D874D

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: LRP8: D874D

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

View BVdb publication page

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Associations between prenatal exposure to cadmium and lead with neural tube defect risks are modified by single-nucleotide polymorphisms of fetal MTHFR and SOD2: a case-control study.

Environmental Health : A Global Access Science Source

Liu, Mengyuan M; Yu, Jinhui J; Su, Zaiming Z; Sun, Ying Y; Liu, Yaqiong Y; Xie, Qing Q; Li, Zhiwen Z; Wang, Linlin L; Zhang, Jie J; Jin, Lei L; Ren, Aiguo A

Publication Date: 2021-06-05

Variant appearance in text: rs3737983

PubMed Link: 34090432

Variant Present in the following documents:

• Main text
• 12940_2021_Article_752.pdf

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: LRP8: 2622C>T; D874D; rs3737983

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: LRP8: Asp874Asp; rs3737983

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: LRP8: D874D; rs3737983

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: LRP8: 2622C>T; D874D; rs3737983

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.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: LRP8: D874D; rs3737983

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: LRP8: 2622C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_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: LRP8: 2622C>T; rs3737983

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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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: LRP8: 2622C>T; D874D; rs3737983

PubMed Link: 29974678

Variant Present in the following documents:

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

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: LRP8: D874D; rs3737983

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.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: rs3737983

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: LRP8: D874D; rs3737983

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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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: LRP8: D874D; rs3737983

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

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Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease.

Oncotarget

Bai, Feng F; Yuan, Yonggui Y; Shi, Yongmei Y; Zhang, Zhijun Z

Publication Date: 2016-03-29

Variant appearance in text: rs3737983

PubMed Link: 26985771

Variant Present in the following documents:

• Main text

View BVdb publication page

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Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisense oligonucleotides.

Embo Molecular Medicine

Hinrich, Anthony J AJ; Jodelka, Francine M FM; Chang, Jennifer L JL; Brutman, Daniella D; Bruno, Angela M AM; Briggs, Clark A CA; James, Bryan D BD; Stutzmann, Grace E GE; Bennett, David A DA; Miller, Steven A SA; Rigo, Frank F; Marr, Robert A RA; Hastings, Michelle L ML

Publication Date: 2016-04-01

Variant appearance in text: rs3737983

PubMed Link: 26902204

Variant Present in the following documents:

• Main text
• EMMM-8-328.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: LRP8: D874D; rs3737983

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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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: LRP8: D874D; rs3737983

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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A novel molecular diagnostic marker for familial and early-onset coronary artery disease and myocardial infarction in the LRP8 gene.

Circulation. Cardiovascular Genetics

Shen, Gong-Qing GQ; Girelli, Domenico D; Li, Lin L; Rao, Shaoqi S; Archacki, Stephen S; Olivieri, Oliviero O; Martinelli, Nicola N; Park, Jeong Euy JE; Chen, Qiuyun Q; Topol, Eric J EJ; Wang, Qing K QK

Publication Date: 2014-08

Variant appearance in text: rs3737983

PubMed Link: 24867879

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs3737983

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: LRP8: D874D; rs3737983

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Multi-allelic haplotype association identifies novel information different from single-SNP analysis: a new protective haplotype in the LRP8 gene is against familial and early-onset CAD and MI.

Gene

Shen, Gong-Qing GQ; Girelli, Domenico D; Li, Lin L; Olivieri, Oliviero O; Martinelli, Nicola N; Chen, Qiuyun Q; Topol, Eric J EJ; Wang, Qing K QK

Publication Date: 2013-05-25

Variant appearance in text: rs3737983

PubMed Link: 23524007

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Journal Of Perinatology : Official Journal Of The California Perinatal Association

Mann, P C PC; Cooper, M E ME; Ryckman, K K KK; Comas, B B; Gili, J J; Crumley, S S; Bream, E N A EN; Byers, H M HM; Piester, T T; Schaefer, A A; Christine, P J PJ; Lawrence, A A; Schaa, K L KL; Kelsey, K J P KJ; Berends, S K SK; Momany, A M AM; Gadow, E E; Cosentino, V V; Castilla, E E EE; López Camelo, J J; Saleme, C C; Day, L J LJ; England, S K SK; Marazita, M L ML; Dagle, J M JM; Murray, J C JC

Publication Date: 2013-05

Variant appearance in text: rs3737983

PubMed Link: 23018797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Plos One

Liu, Xiaoyan X; Yue, Chunxian C; Xu, Zhi Z; Shu, Hao H; Pu, Mengjia M; Yu, Hui H; Shi, Yongmei Y; Zhuang, Liying L; Xu, Xiaohui X; Zhang, Zhijun Z

Publication Date: 2012

Variant appearance in text: rs3737983

PubMed Link: 22911757

Variant Present in the following documents:

• Main text
• pone.0041198.pdf

View BVdb publication page

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Polymorphism in maternal LRP8 gene is associated with fetal growth.

American Journal Of Human Genetics

Wang, Lin L; Wang, Xiaobin X; Laird, Nan N; Zuckerman, Barry B; Stubblefield, Philip P; Xu, Xin X

Publication Date: 2006-05

Variant appearance in text: rs3737983

PubMed Link: 16642433

Variant Present in the following documents:

• Main text

View BVdb publication page

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