Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147

Solar ultraviolet radiation cataract

(2017) Stefan Löfgren   EXPERIMENTAL EYE RESEARCH

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

The protein-interaction network with functional roles in tumorigenesis, neurodegeneration, and aging

(2016) Jarmila Nahálková   MOLECULAR AND CELLULAR BIOCHEMISTRY

Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter

(2016) Xiaoyin Ma et al.   Scientific Reports

Basigin (CD147), a multifunctional transmembrane glycoprotein with various binding partners

(2015) Takashi Muramatsu   JOURNAL OF BIOCHEMISTRY

Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease

(2015) Inna Sabirzhanova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ancestry, Socioeconomic Status, and Age-Related Cataract in Asians

(2015) Jacqueline Chua et al.   OPHTHALMOLOGY

Comparison of predicted and actual consequences of missense mutations

(2015) Lisa A. Miosge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Polymorphisms of DNA Repair Genes XPD (Lys751Gln) and XRCC1 (Arg399Gln), and The Risk of Age-Related Cataract: A Meta-Analysis

(2014) Xiao-Cui Liu et al.   CURRENT EYE RESEARCH

Altered DNA Methylation and Expression Profiles of 8-Oxoguanine DNA Glycosylase 1 in Lens Tissue from Age-related Cataract Patients

(2014) Yong Wang et al.   CURRENT EYE RESEARCH

S-nitrosation of monocarboxylate transporter 1: Inhibition of pyruvate-fueled respiration and proliferation of breast cancer cells

(2014) Anne R. Diers et al.   FREE RADICAL BIOLOGY AND MEDICINE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Genetics of human cataract

(2013) A Shiels et al.   CLINICAL GENETICS

Intracellular and Extracellular Carbonic Anhydrases Cooperate Non-enzymatically to Enhance Activity of Monocarboxylate Transporters

(2013) Michael Klier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Association of the Ephreceptor Tyrosinekinase-Type A2 (EPHA2) Gene Polymorphism rs3754334 with Age-Related Cataract Risk: A Meta-Analysis

(2013) Jin Yang et al.   PLoS One

Prevalence of Cataract Surgery and Visual Outcomes in Indian Immigrants in Singapore: The Singapore Indian Eye Study

(2013) Preeti Gupta et al.   PLoS One

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

(2012) Yuko Kurosawa et al.   JOURNAL OF CLINICAL INVESTIGATION

Prevalence of Lens Opacities in Asian Malays

(2012) Ava Grace Tan et al.   OPHTHALMIC EPIDEMIOLOGY

Creatine as an antioxidant

(2011) Piero Sestili et al.   AMINO ACIDS

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

The monocarboxylate transporter family-Structure and functional characterization

(2011) Andrew P. Halestrap   IUBMB LIFE

Protein Kinase C-Mediated Phosphorylation of a Single Serine Residue on the Rat Glial Glutamine Transporter SN1 Governs Its Membrane Trafficking

(2011) L. S. H. Nissen-Meyer et al.   JOURNAL OF NEUROSCIENCE

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

(2010) Sarah E. Flanagan et al.   Genetic Testing and Molecular Biomarkers

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract

(2009) Zeynep Firtina et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Methodology of the Singapore Indian Chinese Cohort (SICC) Eye Study: Quantifying ethnic variations in the epidemiology of eye diseases in Asians

(2009) Raghavan Lavanya et al.   OPHTHALMIC EPIDEMIOLOGY

Detergent binding explains anomalous SDS-PAGE migration of membrane proteins

(2009) Arianna Rath et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

EPHA2 Is Associated with Age-Related Cortical Cataract in Mice and Humans

(2009) Gyungah Jun et al.   PLoS Genetics

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

(2008) Barbara Kloeckener-Gruissem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tissue-Specific Amino Acid Transporter Partners ACE2 and Collectrin Differentially Interact With Hartnup Mutations

(2008) Simone M.R. Camargo et al.   GASTROENTEROLOGY