Literature DB >> 11857737

G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.

Colin J Kwok1, Andrew C R Martin, Shannon W N Au, Veronica M S Lam.   

Abstract

G6PDdb (http://www.rubic.rdg.ac.uk/g6pd/ or http://www.bioinf.org.uk/g6pd/) is a newly created web-accessible locus-specific mutation database for the human Glucose-6-phosphate dehydrogenase (G6PD) gene. The relational database integrates up-to-date mutational and structural data from various databanks (GenBank, Protein Data Bank, etc.) with biochemically characterized variants and their associated phenotypes obtained from published literature and the Favism website. An automated analysis of the mutations likely to have a significant impact on the structure of the protein has been performed using a recently developed procedure. The database may be queried online and the full results of the analysis of the structural impact of mutations are available. The web page provides a form for submitting additional mutation data and is linked to resources such as the Favism website, OMIM, HGMD, HGVBASE, and the PDB. This database provides insights into the molecular aspects and clinical significance of G6PD deficiency for researchers and clinicians and the web page functions as a knowledge base relevant to the understanding of G6PD deficiency and its management. Copyright 2002 Wiley-Liss, Inc.

Entities:  

Mesh:

Substances:

Year:  2002        PMID: 11857737     DOI: 10.1002/humu.10036

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  11 in total

1.  Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORES.

Authors:  Maria-Odete Rodrigues; Júlia Dias Pereira; Gisela Gaspar; Gabriel Olim; Maria-Do-Carmo Martins; Carolino Monteiro
Journal:  J Clin Lab Anal       Date:  2004       Impact factor: 2.352

2.  Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity.

Authors:  Eric A Stone; Arend Sidow
Journal:  Genome Res       Date:  2005-06-17       Impact factor: 9.043

3.  Meet me halfway: when genomics meets structural bioinformatics.

Authors:  Sungsam Gong; Catherine L Worth; Tammy M K Cheng; Tom L Blundell
Journal:  J Cardiovasc Transl Res       Date:  2011-02-25       Impact factor: 4.132

4.  Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene.

Authors:  Panayiotis G Menounos; George A Garinis; George P Patrinos
Journal:  J Clin Lab Anal       Date:  2003       Impact factor: 2.352

5.  An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D.

Authors:  Jose M G Izarzugaza; Anja Baresic; Lisa E M McMillan; Corin Yeats; Andrew B Clegg; Christine A Orengo; Andrew C R Martin; Alfonso Valencia
Journal:  BMC Bioinformatics       Date:  2009-08-27       Impact factor: 3.169

6.  Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates.

Authors:  Khalid K Abdul-Razzak; Enaam M Almomany; Mohamad K Nusier; Ahmad D Obediat; Ahmad M Salim
Journal:  Ger Med Sci       Date:  2008-09-24

Review 7.  Cell and Gene Therapy for Anemia: Hematopoietic Stem Cells and Gene Editing.

Authors:  Dito Anurogo; Nova Yuli Prasetyo Budi; Mai-Huong Thi Ngo; Yen-Hua Huang; Jeanne Adiwinata Pawitan
Journal:  Int J Mol Sci       Date:  2021-06-10       Impact factor: 5.923

8.  Evaluation of liver and kidney function in favism patients.

Authors:  Akbar Dorgalaleh; Muhammad Shahid Shahzad; Mohammad Reza Younesi; Esmaeil Sanei Moghaddam; Mohammad Mahmoodi; Bijan Varmaghani; Zahra Kashani Khatib; Shaban Alizadeh
Journal:  Med J Islam Repub Iran       Date:  2013-02

9.  Multiple property tolerance analysis for the evaluation of missense mutations.

Authors:  Tai-Sung Lee; Steven J Potts; Matthew J McGinniss; Charles M Strom
Journal:  Evol Bioinform Online       Date:  2007-02-24       Impact factor: 1.625

10.  Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan.

Authors:  Saúl Gómez-Manzo; Jaime Marcial-Quino; America Vanoye-Carlo; Hugo Serrano-Posada; Abigail González-Valdez; Víctor Martínez-Rosas; Beatriz Hernández-Ochoa; Edgar Sierra-Palacios; Rosa Angélica Castillo-Rodríguez; Miguel Cuevas-Cruz; Eduardo Rodríguez-Bustamante; Roberto Arreguin-Espinosa
Journal:  Int J Mol Sci       Date:  2016-05-21       Impact factor: 5.923

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.