Publications:

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Molecular Dynamics Simulation and Essential Dynamics of Deleterious Proline 12 Alanine Single-Nucleotide Polymorphism in PPARγ2 Associated with Type 2 Diabetes, Cardiovascular Disease, and Nonalcoholic Fatty Liver Disease.

Ppar Research

Taghvaei, Somayye S; Saremi, Leila L

Publication Date: 2022

Variant appearance in text: FLNB: L171R

PubMed Link: 35547362

Variant Present in the following documents:

• PPAR2022-3833668.pdf

View BVdb publication page

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Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.

Molecules (Basel, Switzerland)

S, Udhaya Kumar UK; Sankar, Srivarshini S; Younes, Salma S; D, Thirumal Kumar TK; Ahmad, Muneera Naseer MN; Okashah, Sarah Samer SS; Kamaraj, Balu B; Al-Subaie, Abeer Mohammed AM; C, George Priya Doss GPD; Zayed, Hatem H

Publication Date: 2020-11-26

Variant appearance in text: FLNB: 512T>G; L171R

PubMed Link: 33255942

Variant Present in the following documents:

• Main text
• molecules-25-05543.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: FLNB: L171R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.

American Journal Of Translational Research

Xu, Qiming Q; Wu, Nan N; Cui, Lijia L; Lin, Mao M; Thirumal Kumar, D D; George Priya Doss, C C; Wu, Zhihong Z; Shen, Jianxiong J; Song, Xiangjian X; Qiu, Guixing G

Publication Date: 2018

Variant appearance in text: FLNB: 512T>G; Leu171Arg

PubMed Link: 29887954

Variant Present in the following documents:

• Main text

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: FLNB: L171R; rs80356494

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.

American Journal Of Physiology. Cell Physiology

Zhao, Yongtong Y; Shapiro, Sandor S SS; Eto, Masumi M

Publication Date: 2016-01-01

Variant appearance in text: FLNB: L171R

PubMed Link: 26491051

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: FLNB: L171R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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