Publications:

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FBP1: 778G>A; Gly260Arg

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 2
• pcbi.1010013.s002.xlsx, sheet 4

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Deubiquitination of FBP1 by USP7 blocks FBP1-DNMT1 interaction and decreases the sensitivity of pancreatic cancer cells to PARP inhibitors.

Molecular Oncology

Cheng, Xiang X; Zhang, Bin B; Guo, Feng F; Wu, Heshui H; Jin, Xin X

Publication Date: 2022-04

Variant appearance in text: FBP1: G260R

PubMed Link: 34854226

Variant Present in the following documents:

• Main text
• MOL2-16-1591.pdf

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FBP1 regulates proliferation, metastasis, and chemoresistance by participating in C-MYC/STAT3 signaling axis in ovarian cancer.

Oncogene

Li, Haoran H; Qi, Zihao Z; Niu, Yongdong Y; Yang, Yufei Y; Li, Mengjiao M; Pang, Yangyang Y; Liu, Mingming M; Cheng, Xi X; Xu, Midie M; Wang, Ziliang Z

Publication Date: 2021-10

Variant appearance in text: FBP1: G260R

PubMed Link: 34363022

Variant Present in the following documents:

• Main text
• 41388_2021_Article_1957.pdf

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FBP1 regulates proliferation, metastasis, and chemoresistance by participating in C-MYC/STAT3 signaling axis in ovarian cancer.

Oncogene

Li, Haoran H; Qi, Zihao Z; Niu, Yongdong Y; Yang, Yufei Y; Li, Mengjiao M; Pang, Yangyang Y; Liu, Mingming M; Cheng, Xi X; Xu, Midie M; Wang, Ziliang Z

Publication Date: 2021-10

Variant appearance in text: FBP1: G260R

PubMed Link: 34363022

Variant Present in the following documents:

• Main text
• 41388_2021_Article_1957.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: FBP1: 778G>A; Gly260Arg; rs780803192

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan.

Orphanet Journal Of Rare Diseases

Mansoor, Sumreena S

Publication Date: 2020-11-14

Variant appearance in text: FBP1: 778G>A; G260R

PubMed Link: 33189153

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine

Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A

Publication Date: 2020

Variant appearance in text: FBP1: 778G>A; Gly260Arg

PubMed Link: 33083013

Variant Present in the following documents:

• 41525_2020_150_MOESM1_ESM.pdf

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The genomic landscapes of individual melanocytes from human skin.

Nature

Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH

Publication Date: 2020-10

Variant appearance in text: FBP1: G260R

PubMed Link: 33029006

Variant Present in the following documents:

• NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 1

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: FBP1: G260R

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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Fructose-1, 6-bisphosphatase 1 interacts with NF-κB p65 to regulate breast tumorigenesis via PIM2 induced phosphorylation.

Theranostics

Lu, Chao C; Ren, Chune C; Yang, Tingting T; Sun, Yonghong Y; Qiao, Pengyun P; Han, Xue X; Yu, Zhenhai Z

Publication Date: 2020

Variant appearance in text: FBP1: G260R

PubMed Link: 32754266

Variant Present in the following documents:

• Main text
• thnov10p8606.pdf

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Fructose-1,6-bisphosphatase loss modulates STAT3-dependent expression of PD-L1 and cancer immunity.

Theranostics

Wang, Bo B; Zhou, Yingke Y; Zhang, Jun J; Jin, Xin X; Wu, Heshui H; Huang, Haojie H

Publication Date: 2020

Variant appearance in text: FBP1: G260R

PubMed Link: 31938049

Variant Present in the following documents:

• Main text
• thnov10p1033.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: FBP1: 778G>A; Gly260Arg; rs780803192

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: FBP1: 778G>A; G260R; rs780803192

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: FBP1: 778G>A; Gly260Arg

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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FBP1 loss contributes to BET inhibitors resistance by undermining c-Myc expression in pancreatic ductal adenocarcinoma.

Journal Of Experimental & Clinical Cancer Research : Cr

Wang, Bo B; Fan, Ping P; Zhao, Jingyuan J; Wu, Heyu H; Jin, Xin X; Wu, Heshui H

Publication Date: 2018-09-10

Variant appearance in text: FBP1: G260R

PubMed Link: 30201002

Variant Present in the following documents:

• Main text
• 13046_2018_Article_888.pdf

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Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.

Journal Of Postgraduate Medicine

Sharma, A G AG; Kanwal, S K SK; Chhapola, V V; Kumar, V V

Publication Date: 2018

Variant appearance in text: FBP1: 778G>A

PubMed Link: 29992913

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fructose-1,6-bisphosphatase Inhibits ERK Activation and Bypasses Gemcitabine Resistance in Pancreatic Cancer by Blocking IQGAP1-MAPK Interaction.

Cancer Research

Jin, Xin X; Pan, Yunqian Y; Wang, Liguo L; Ma, Tao T; Zhang, Lizhi L; Tang, Amy H AH; Billadeau, Daniel D DD; Wu, Heshui H; Huang, Haojie H

Publication Date: 2017-08-15

Variant appearance in text: N/A

PubMed Link: 28720574

Variant Present in the following documents:

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: FBP1: 778G>A; Gly260Arg

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.

Orphanet Journal Of Rare Diseases

Santer, René R; du Moulin, Marcel M; Shahinyan, Tatevik T; Vater, Inga I; Maier, Esther E; Muntau, Ania C AC; Steinmann, Beat B

Publication Date: 2016-04-21

Variant appearance in text: FBP1: 778G>A; G260R

PubMed Link: 27101822

Variant Present in the following documents:

• Main text
• 13023_2016_Article_415.pdf

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Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Scientifica

Chaturvedi, Swati S; Singh, Ashok K AK; Keshari, Amit K AK; Maity, Siddhartha S; Sarkar, Srimanta S; Saha, Sudipta S

Publication Date: 2016

Variant appearance in text: FBP1: 778G>A; G260R

PubMed Link: 27051561

Variant Present in the following documents:

• Main text
• SCIENTIFICA2016-9828672.pdf

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Fructose-1,6-bisphosphatase opposes renal carcinoma progression.

Nature

Li, Bo B; Qiu, Bo B; Lee, David S M DS; Walton, Zandra E ZE; Ochocki, Joshua D JD; Mathew, Lijoy K LK; Mancuso, Anthony A; Gade, Terence P F TP; Keith, Brian B; Nissim, Itzhak I; Simon, M Celeste MC

Publication Date: 2014-09-11

Variant appearance in text: FBP1: G260R

PubMed Link: 25043030

Variant Present in the following documents:

• Main text
• nihms603220.pdf

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