Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

(2017) Lucie Grodecká et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Arpeggio: A Web Server for Calculating and Visualising Interatomic Interactions in Protein Structures

(2017) Harry C Jubb et al.   JOURNAL OF MOLECULAR BIOLOGY

Conjugation of 10 kDa Linear PEG onto Trastuzumab Fab′ Is Sufficient to Significantly Enhance Lymphatic Exposure while Preserving in Vitro Biological Activity

(2016) Linda J. Chan et al.   MOLECULAR PHARMACEUTICS

Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects

(2015) Andrew S. Davison et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

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

(2015) Martina Nemethova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PEGylation Does Not Significantly Change the Initial Intravenous or Subcutaneous Pharmacokinetics or Lymphatic Exposure of Trastuzumab in Rats but Increases Plasma Clearance after Subcutaneous Administration

(2015) Linda J. Chan et al.   MOLECULAR PHARMACEUTICS

Identification of U2AF(35)-dependent exons by RNA-Seq reveals a link between 3′ splice-site organization and activity of U2AF-related proteins

(2015) Jana Kralovicova et al.   NUCLEIC ACIDS RESEARCH

Lst4, the yeast Fnip1/2 orthologue, is a DENN-family protein

(2015) Angela Pacitto et al.   Open Biology

Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry

(2015) Andrew T Hughes et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Mutation Screening of theHGDGene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

(2014) Srinivasan Sakthivel et al.   ANNALS OF HUMAN GENETICS

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment

(2014) Lakshminarayan R Ranganath et al.   ANNALS OF THE RHEUMATIC DISEASES

Urine homogentisic acid and tyrosine: Simultaneous analysis by liquid chromatography tandem mass spectrometry

(2014) A.T. Hughes et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

(2014) Mohammad Zouheir Habbal et al.   PLoS One

Crystal structure of human insulin-regulated aminopeptidase with specificity for cyclic peptides

(2014) Stefan J. Hermans et al.   PROTEIN SCIENCE

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

Recent advances in management of alkaptonuria (invited review; best practice article)

(2013) Lakshminarayan R Ranganath et al.   JOURNAL OF CLINICAL PATHOLOGY

Visualizing the substrate-, superoxo-, alkylperoxo-, and product-bound states at the nonheme Fe(II) site of homogentisate dioxygenase

(2013) J.-H. Jeoung et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6

(2011) Michela Raponi et al.   HUMAN MUTATION

Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: Implications in alkaptonuria

(2011) Marcella Laschi et al.   JOURNAL OF CELLULAR PHYSIOLOGY

An update on molecular genetics of Alkaptonuria (AKU)

(2011) Andrea Zatkova   JOURNAL OF INHERITED METABOLIC DISEASE

Dominant Negative Mutations Affect Oligomerization of Human Pyruvate Kinase M2Isozyme and Promote Cellular Growth and Polyploidy

(2010) Vibhor Gupta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A series of PDB related databases for everyday needs

(2010) R. P. Joosten et al.   NUCLEIC ACIDS RESEARCH

Nine cases of Alkaptonuria in one family in southern Jordan

(2010) Mohammed Al-sbou et al.   RHEUMATOLOGY INTERNATIONAL