Publications:

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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: PON1: 146-154C>A; rs3917498

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology

Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L

Publication Date: 2020

Variant appearance in text: rs3917498

PubMed Link: 33195260

Variant Present in the following documents:

• Main text
• fcell-08-592271.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: PON1: 146-154C>A; rs3917498

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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Interaction between polyphenols intake and PON1 gene variants on markers of cardiovascular disease: a nutrigenetic observational study.

Journal Of Translational Medicine

Rizzi, Federica F; Conti, Costanza C; Dogliotti, Elena E; Terranegra, Annalisa A; Salvi, Erika E; Braga, Daniele D; Ricca, Flavia F; Lupoli, Sara S; Mingione, Alessandra A; Pivari, Francesca F; Brasacchio, Caterina C; Barcella, Matteo M; Chittani, Martina M; D'Avila, Francesca F; Turiel, Maurizio M; Lazzaroni, Monica M; Soldati, Laura L; Cusi, Daniele D; Barlassina, Cristina C

Publication Date: 2016-06-23

Variant appearance in text: rs3917498

PubMed Link: 27338244

Variant Present in the following documents:

• Main text
• 12967_2016_Article_941.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs3917498

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3

View BVdb publication page

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Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia.

European Journal Of Human Genetics : Ejhg

Ségurel, Laure L; Austerlitz, Frederic F; Toupance, Bruno B; Gautier, Mathieu M; Kelley, Joanna L JL; Pasquet, Patrick P; Lonjou, Christine C; Georges, Myriam M; Voisin, Sarah S; Cruaud, Corinne C; Couloux, Arnaud A; Hegay, Tatyana T; Aldashev, Almaz A; Vitalis, Renaud R; Heyer, Evelyne E

Publication Date: 2013-10

Variant appearance in text: rs3917498

PubMed Link: 23340510

Variant Present in the following documents:

• Main text

View BVdb publication page

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Additional Common Polymorphisms in the PON Gene Cluster Predict PON1 Activity but Not Vascular Disease.

Journal Of Lipids

Kim, Daniel S DS; Burt, Amber A AA; Ranchalis, Jane E JE; Richter, Rebecca J RJ; Marshall, Julieann K JK; Eintracht, Jason F JF; Rosenthal, Elisabeth A EA; Furlong, Clement E CE; Jarvik, Gail P GP

Publication Date: 2012

Variant appearance in text: rs3917498

PubMed Link: 22685667

Variant Present in the following documents:

• Main text
• JL2012-476316.pdf

View BVdb publication page

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Effects of PON polymorphisms and haplotypes on molecular phenotype in Mexican-American mothers and children.

Environmental And Molecular Mutagenesis

Huen, Karen K; Barcellos, Lisa L; Beckman, Kenneth K; Rose, Sherri S; Eskenazi, Brenda B; Holland, Nina N

Publication Date: 2011-03

Variant appearance in text: rs3917498

PubMed Link: 20839225

Variant Present in the following documents:

• Main text

View BVdb publication page

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