Publications:

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Chaperone-Dependent Mechanisms as a Pharmacological Target for Neuroprotection.

International Journal Of Molecular Sciences

Voronin, Mikhail V MV; Abramova, Elena V EV; Verbovaya, Ekaterina R ER; Vakhitova, Yulia V YV; Seredenin, Sergei B SB

Publication Date: 2023-01-03

Variant appearance in text: rs1800866

PubMed Link: 36614266

Variant Present in the following documents:

• Main text
• ijms-24-00823.pdf

View BVdb publication page

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Abstract: 15th Conference Clinical Trials Alzheimer's Disease, November 29- December 2, 2022, San Francisco , USA: Symposia - Oral Communications - Late Breaking News.

The Journal Of Prevention Of Alzheimer'S Disease

Publication Date: 2022

Variant appearance in text: rs1800866

PubMed Link: 36471007

Variant Present in the following documents:

• Main text
• 42414_2022_Article_96.pdf

View BVdb publication page

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Antidepressive-like Behavior-Related Metabolomic Signatures of Sigma-1 Receptor Knockout Mice.

Biomedicines

Svalbe, Baiba B; Zvejniece, Baiba B; Stelfa, Gundega G; Vilks, Karlis K; Vavers, Edijs E; Vela, José Miguel JM; Dambrova, Maija M; Zvejniece, Liga L

Publication Date: 2022-07-01

Variant appearance in text: rs1800866

PubMed Link: 35884876

Variant Present in the following documents:

• Main text
• biomedicines-10-01572.pdf

View BVdb publication page

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Chaperone Sigma1R and Antidepressant Effect.

International Journal Of Molecular Sciences

Voronin, Mikhail V MV; Vakhitova, Yulia V YV; Seredenin, Sergei B SB

Publication Date: 2020-09-25

Variant appearance in text: SIGMAR1: 5A>C; Gln2Pro; rs1800866

PubMed Link: 32992988

Variant Present in the following documents:

• Main text
• ijms-21-07088.pdf

View BVdb publication page

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Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: rs1800866

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

View BVdb publication page

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A precision medicine framework using artificial intelligence for the identification and confirmation of genomic biomarkers of response to an Alzheimer's disease therapy: Analysis of the blarcamesine (ANAVEX2-73) Phase 2a clinical study.

Alzheimer'S & Dementia (New York, N. Y.)

Hampel, Harald H; Williams, Coralie C; Etcheto, Adrien A; Goodsaid, Federico F; Parmentier, Frédéric F; Sallantin, Jean J; Kaufmann, Walter E WE; Missling, Christopher U CU; Afshar, Mohammad M

Publication Date: 2020

Variant appearance in text: rs1800866

PubMed Link: 32318621

Variant Present in the following documents:

• Main text
• TRC2-6-e12013.pdf

View BVdb publication page

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Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy.

Journal Of The American Society Of Nephrology : Jasn

Guo, Jing J; Rackham, Owen J L OJL; Sandholm, Niina N; He, Bing B; Österholm, Anne-May AM; Valo, Erkka E; Harjutsalo, Valma V; Forsblom, Carol C; Toppila, Iiro I; Parkkonen, Maija M; Li, Qibin Q; Zhu, Wenjuan W; Harmston, Nathan N; Chothani, Sonia S; Öhman, Miina K MK; Eng, Eudora E; Sun, Yang Y; Petretto, Enrico E; Groop, Per-Henrik PH; Tryggvason, Karl K

Publication Date: 2020-02

Variant appearance in text: rs1800866

PubMed Link: 31919106

Variant Present in the following documents:

• Main text

View BVdb publication page

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Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019

Variant appearance in text: rs1800866

PubMed Link: 31410005

Variant Present in the following documents:

• Main text
• ndt-15-2003.pdf

View BVdb publication page

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Novel missense alleles of SIGMAR1 as tools to understand emerin-dependent gene silencing in response to cocaine.

Experimental Biology And Medicine (Maywood, N.J.)

Arun, Adith S AS; Eddings, Chelsy R CR; Wilson, Katherine L KL

Publication Date: 2019-11

Variant appearance in text: SIGMAR1: Q2P

PubMed Link: 31324122

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: SIGMAR1: 5A>C; Gln2Pro; rs1800866

PubMed Link: 31182772

Variant Present in the following documents:

• 41598_2019_44848_MOESM1_ESM.pdf

View BVdb publication page

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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: SIGMAR1: Q2P; rs1800866

PubMed Link: 30917570

Variant Present in the following documents:

• ijms-20-01514-s001.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: SIGMAR1: Q2P; rs1800866

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1800866

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1800866

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs1800866

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_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: SIGMAR1: 5A>C; Gln2Pro; rs1800866

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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A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Clinical Interventions In Aging

Giau, Vo Van VV; Pyun, Jung-Min JM; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: SIGMAR1: 5A>C; Q2P; rs1800866

PubMed Link: 30104866

Variant Present in the following documents:

• Main text
• cia-13-1321.pdf

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: SIGMAR1: 5A>C; Q2P; rs1800866

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs1800866

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
• 13073_2017_454_MOESM6_ESM.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: rs1800866

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science

Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR

Publication Date: 2017-02

Variant appearance in text: rs1800866

PubMed Link: 28386409

Variant Present in the following documents:

• rsos160254supp3.xlsx, sheet 1

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: SIGMAR1: Q2P; rs1800866

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One

Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F

Publication Date: 2016

Variant appearance in text: rs1800866

PubMed Link: 27336301

Variant Present in the following documents:

• pone.0158064.s002.xlsx, sheet 4

View BVdb publication page

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Emergent biomarker derived from next-generation sequencing to identify pain patients requiring uncommonly high opioid doses.

The Pharmacogenomics Journal

Kringel, D D; Ultsch, A A; Zimmermann, M M; Jansen, J-P JP; Ilias, W W; Freynhagen, R R; Griessinger, N N; Kopf, A A; Stein, C C; Doehring, A A; Resch, E E; Lötsch, J J

Publication Date: 2017-10

Variant appearance in text: SIGMAR1: Gln2Pro; rs1800866

PubMed Link: 27139154

Variant Present in the following documents:

• Main text
• tpj201628a.pdf

View BVdb publication page

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Abstracts of the 82(nd) Annual Meeting of the German Society for Experimental and Clinical Pharmacology and Toxicology (DGPT) and the 18(th) Annual Meeting of the Network Clinical Pharmacology Germany (VKliPha) in cooperation with the Arbeitsgemeinschaft für Angewandte Humanpharmakologie e.V. (AGAH).

Naunyn-Schmiedeberg'S Archives Of Pharmacology

Publication Date: 2016-02

Variant appearance in text: rs1800866

PubMed Link: 26852129

Variant Present in the following documents:

• 210_2016_Article_1213.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1800866

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics

Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA

Publication Date: 2015-02-11

Variant appearance in text: SIGMAR1: Q2P; rs1800866

PubMed Link: 25888430

Variant Present in the following documents:

• 12863_2015_177_MOESM1_ESM.xls, sheet 1

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: SIGMAR1: Q2P; rs1800866

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Variations in apolipoprotein D and sigma non-opioid intracellular receptor 1 genes with relation to risk, severity and outcome of ischemic stroke.

Bmc Neurology

Lövkvist, Håkan H; Jönsson, Ann-Cathrin AC; Luthman, Holger H; Jood, Katarina K; Jern, Christina C; Wieloch, Tadeusz T; Lindgren, Arne A

Publication Date: 2014-09-28

Variant appearance in text: rs1800866

PubMed Link: 25261976

Variant Present in the following documents:

• Main text
• 12883_2014_Article_191.pdf

View BVdb publication page

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No association between the sigma receptor type 1 gene and schizophrenia: results of analysis and meta-analysis of case-control studies.

Bmc Psychiatry

Uchida, Naohiko N; Ujike, Hiroshi H; Nakata, Kenji K; Takaki, Manabu M; Nomura, Akira A; Katsu, Takeshi T; Tanaka, Yuji Y; Imamura, Takaki T; Sakai, Ayumu A; Kuroda, Shigetoshi S

Publication Date: 2003-10-21

Variant appearance in text: rs1800866

PubMed Link: 14567761

Variant Present in the following documents:

• Main text
• 1471-244X-3-13.pdf

View BVdb publication page

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