Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Keywords

Alkaptonuria, Genetics, Gene, Disease, Focus (optics)

References

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• Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High PrevalenceSrinivasan Sakthivel, Andrea Zaťková, Martina Nemethova — 2014
• The nature of the defect in tyrosine metabolism in alcaptonuria.Bert N. La Du, Vincent G. Zannoni, Leonard Laster — 1958
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• The molecular basis of alkaptonuriaJosé M. Fernández‐Cañón, Begoña Granadino, Daniel Beltrán-Valero de Bernabé — 1996
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• Nine cases of Alkaptonuria in one family in southern JordanMohammed Alsbou, Nesrin Mwafi — 2012
• A method and server for predicting damaging missense mutationsIvan Adzhubei, Steffen Schmidt, Leonid Peshkin — 2010
• DUET: a server for predicting effects of mutations on protein stability using an integrated computational approachDouglas E. V. Pires, David B. Ascher, T.L. Blundell — 2014
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Cited by

• pkCSM: Predicting Small-Molecule Pharmacokinetic and Toxicity Properties Using Graph-Based SignaturesDouglas E. V. Pires, Tom L. Blundell, David B. Ascher — 2015
• Alkaptonuria: An example of a "fundamental disease"--A rare disease with important lessons for more common disorders.James A. Gallagher, J.P. Dillon, Nicolas Sireau — 2016
• Mycobacterium tuberculosis whole genome sequencing and protein structure modelling provides insights into anti-tuberculosis drug resistanceJody Phelan, Francesc Coll, Ruth McNerney — 2016
• Tyrosinase, could it be a missing link in ochronosis in alkaptonuria?Adam Taylor, Vishnu Kammath, Aaron Bleakley — 2016
• mCSM-AB: a web server for predicting antibody–antigen affinity changes upon mutation with graph-based signaturesDouglas E. V. Pires, David B. Ascher — 2016
• In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activityDouglas E. V. Pires, Jing Chen, Tom L. Blundell — 2016
• mCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistanceDouglas E. V. Pires, Tom L. Blundell, David B. Ascher — 2016
• Cytoskeleton Aberrations in Alkaptonuric ChondrocytesMichela Geminiani, Silvia Gambassi, Lia Millucci — 2017
• Variation in Human Cytochrome P-450 Drug-Metabolism Genes: A Gateway to the Understanding of Plasmodium vivax RelapsesAna Carolina Rios Silvino, Gabriel Luíz Costa, Flávia Carolina Faustino de Araújo — 2016
• Comparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress.Daniela Braconi, Giulia Bernardini, Alessandro Paffetti — 2016
• Mutations at protein-protein interfaces: Small changes over big surfaces have large impacts on human health.Harry Jubb, Arun Prasad Pandurangan, Meghan A. Turner — 2017
• Arpeggio: A Web Server for Calculating and Visualising Interatomic Interactions in Protein StructuresHarry Jubb, Alícia P. Higueruelo, Bernardo Ochoa‐Montaño — 2017
• Genetics of alkaptonuria – an overviewAndrea Zaťková, Martina Nemethova — 2015
• Nitisinone: A reviewAyşe Çiğdem Aktuğlu Zeybek, Tanyel Zübarioğlu — 2017
• Histological and Ultrastructural Characterization of Alkaptonuric TissuesLia Millucci, Giulia Bernardini, Adriano Spreafico — 2017
• Familial STAG2 germline mutation defines a new human cohesinopathyFernanda Caroline Soardi, Alice Machado-Silva, Natália D. Linhares — 2017
• mCSM–NA: predicting the effects of mutations on protein–nucleic acids interactionsDouglas E. V. Pires, David B. Ascher — 2017
• Genomes, structural biology and drug discovery: combating the impacts of mutations in genetic disease and antibiotic resistanceArun Prasad Pandurangan, David B. Ascher, S.E. Thomas — 2017
• Combating mutations in genetic disease and drug resistance: understanding molecular mechanisms to guide drug designAmanda T. S. Albanaz, Carlos H. M. Rodrigues, Douglas E. V. Pires — 2017
• SDM: a server for predicting effects of mutations on protein stabilityArun Prasad Pandurangan, Bernardo Ochoa‐Montaño, David B. Ascher — 2017

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