| scholarly article | Q13442814 |
| P2093 | author name string | Daniela Quaglino | |
| Federica Boraldi | |||
| Sonia Costa | |||
| Pasquale Moscarelli | |||
| Francesco Demetrio Lofaro | |||
| P2860 | cites work | An extensive evaluation of read trimming effects on Illumina NGS data analysis | Q21559489 |
| Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification | Q26865249 | ||
| A method and server for predicting damaging missense mutations | Q27860835 | ||
| Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 | Q28115649 | ||
| Role of the sodium-dependent phosphate cotransporter, Pit-1, in vascular smooth muscle cell calcification | Q28301225 | ||
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
| Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing. | Q54043102 | ||
| PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools | Q58586993 | ||
| Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients | Q73832283 | ||
| A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis | Q83656252 | ||
| Protein carbamylation exacerbates vascular calcification | Q88536702 | ||
| Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm | Q29547194 | ||
| Distribution and intensity of constraint in mammalian genomic sequence | Q29614574 | ||
| Detection of nonneutral substitution rates on mammalian phylogenies | Q30080028 | ||
| Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes | Q33979143 | ||
| Fibroblasts from patients affected by Pseudoxanthoma elasticum exhibit an altered PPi metabolism and are more responsive to pro-calcifying stimuli | Q35086104 | ||
| Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 | Q35671719 | ||
| Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene | Q35975608 | ||
| The molecular and physiological roles of ABCC6: more than meets the eye. | Q36460969 | ||
| Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders | Q36800446 | ||
| ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release | Q37395209 | ||
| Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients? | Q37434251 | ||
| Role of osteopontin in modulation of hydroxyapatite formation | Q38075420 | ||
| Polymorphism in exon 6 of the human NT5E gene is associated with aortic valve calcification | Q39139695 | ||
| Sodium-dependent phosphate cotransporters and phosphate-induced calcification of vascular smooth muscle cells: redundant roles for PiT-1 and PiT-2. | Q39222411 | ||
| Association of Matrix Gla protein gene (rs1800801, rs1800802, rs4236) polymorphism with vascular calcification and atherosclerotic disease: a meta-analysis | Q41459499 | ||
| Inorganic pyrophosphatase induces type I collagen in osteoblasts | Q41869796 | ||
| Pseudoxanthoma elasticum-like skin lesions and angioid streaks in beta-thalassemia | Q42021955 | ||
| Cloning and targeted deletion of the mouse fetuin gene | Q46292099 | ||
| Prediction of protein stability changes for single-site mutations using support vector machines | Q46560080 | ||
| Ectopic calcification in β-thalassemia patients is associated with increased oxidative stress and lower MGP carboxylation. | Q47899457 | ||
| Plasmin Prevents Dystrophic Calcification After Muscle Injury. | Q49113984 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P921 | main subject | beta thalassemia | Q3616632 |
| P304 | page(s) | 322 | |
| P577 | publication date | 2019-01-01 | |
| P1433 | published in | Frontiers in Medicine | Q27726181 |
| P1476 | title | Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings | |
| P478 | volume | 6 |
| Q98891972 | Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc | cites work | P2860 |
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