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Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues.
- Published in:
- Scientifica, 2012, p. 1, doi. 10.6064/2012/598262
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- Publication type:
- Article
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-66
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- Publication type:
- Article
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.
- Published in:
- 2014
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- Publication type:
- journal article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-36
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- Publication type:
- Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
- Published in:
- 2013
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- Publication type:
- journal article
Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 15288, doi. 10.3390/ijms232315288
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- Publication type:
- Article
Minocycline Counteracts Ectopic Calcification in a Murine Model of Pseudoxanthoma Elasticum: A Proof-of-Concept Study.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1838, doi. 10.3390/ijms23031838
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- Publication type:
- Article
GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 2, p. 240, doi. 10.3390/ijms18020240
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- Publication type:
- Article
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
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- Journal of Human Genetics, 2010, v. 55, n. 2, p. 112, doi. 10.1038/jhg.2009.132
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- Publication type:
- Article
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 620, doi. 10.1002/ajmg.a.36321
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- Publication type:
- Article
Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2352, doi. 10.1002/ajmg.a.36077
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- Publication type:
- Article
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2855, doi. 10.1002/ajmg.a.34264
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- Publication type:
- Article
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
- Published in:
- Journal of Bone & Mineral Research, 2013, v. 28, n. 5, p. 1041, doi. 10.1002/jbmr.1849
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- Publication type:
- Article
Molecular Docking Simulations Provide Insights in the Substrate Binding Sites and Possible Substrates of the ABCC6 Transporter.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102779
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- Publication type:
- Article
Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1893, doi. 10.3390/jcm12051893
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- Publication type:
- Article
Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
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- Journal of Clinical Medicine, 2022, v. 11, n. 13, p. 3727, doi. 10.3390/jcm11133727
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- Publication type:
- Article
Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 11, p. 1621, doi. 10.3390/biom13111621
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- Publication type:
- Article
From membrane to mineralization: the curious case of the ABCC6 transporter.
- Published in:
- FEBS Letters, 2020, v. 594, n. 23, p. 4109, doi. 10.1002/1873-3468.13981
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- Publication type:
- Article
Acral Acquired Cutis Laxa Associated with IgA Multiple Myeloma, Joint Hyperlaxity and Urticarial Neutrophilic Dermatosis.
- Published in:
- 2014
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- Publication type:
- Case Study
Chikungunya outbreak in Bangladesh (2017): Clinical and hematological findings.
- Published in:
- PLoS Neglected Tropical Diseases, 2020, v. 14, n. 2, p. 1, doi. 10.1371/journal.pntd.0007466
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- Publication type:
- Article
Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.
- Published in:
- Current Issues in Molecular Biology, 2024, v. 46, n. 9, p. 9998, doi. 10.3390/cimb46090597
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- Publication type:
- Article
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 605, doi. 10.1002/acn3.702
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- Publication type:
- Article
Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 449, doi. 10.1111/cge.13901
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- Publication type:
- Article
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 74, doi. 10.1111/cge.13751
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- Publication type:
- Article
Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation.
- Published in:
- 2021
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- Publication type:
- journal article
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.
- Published in:
- Brain Pathology, 2018, v. 28, n. 6, p. 822, doi. 10.1111/bpa.12620
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- Publication type:
- Article
Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 4, p. 992, doi. 10.1038/jid.2014.421
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- Publication type:
- Article
Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum-Like Skin Manifestations Associated with GGCX Mutations.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 9, p. 2331, doi. 10.1038/jid.2014.191
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- Publication type:
- Article
Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 581, doi. 10.1038/sj.jid.5700610
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- Publication type:
- Article
Phenotype of a Belgian Family With 6p25 Deletion Syndrome.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2016, v. 125, n. 9, p. 734, doi. 10.1177/0003489416650687
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- Publication type:
- Article
Clinical Zinc Deficiency as Early Presentation of Wilson Disease.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 4, p. 457, doi. 10.1097/MPG.0000000000000628
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- Publication type:
- Article
The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients.
- Published in:
- Biomedicines, 2023, v. 11, n. 10, p. 2673, doi. 10.3390/biomedicines11102673
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- Publication type:
- Article
Cellular and Molecular Biomarkers Indicate Premature Aging in Pseudoxanthoma Elasticum Patients.
- Published in:
- Aging & Disease, 2020, v. 11, n. 3, p. 536, doi. 10.14336/ad.2019.0610
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- Publication type:
- Article
Cellular and Molecular Biomarkers Indicate Premature Aging in Pseudoxanthoma Elasticum Patients.
- Published in:
- Aging & Disease, 2020, v. 11, n. 3, p. 536, doi. 10.14336/AD.2019.0610
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- Publication type:
- Article
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1872, doi. 10.1002/humu.24498
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- Publication type:
- Article
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 205, doi. 10.1002/humu.9514
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- Publication type:
- Article
The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders.
- Published in:
- 2015
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- Publication type:
- journal article