(Q35172849)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

review article

1 reference

title

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

Xiaofeng Hu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Astrid S Plomp

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Simone van Soest

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Paulus T V M de Jong

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Arthur A B Bergen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 July 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

published in

Survey of Ophthalmology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

424-438

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

Pseudoxanthoma elasticum lesions and cardiac complications as contributing factors for strokes in beta-thalassemia patients.

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Arterial calcifications in beta-thalassemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Angioid streaks in homozygous beta thalassemia

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Connective tissue of rat lung. II: Ultrastructural localization of collagen types III, IV, and VI

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Cell-matrix interactions in cultured dermal fibroblasts from patients with an inherited connective-tissue disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Mutations in ABCC6 cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

A family of drug transporters: the multidrug resistance-associated proteins.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Compressibility of the carotid artery in patients with pseudoxanthoma elasticum.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Emilin, a component of elastic fibers preferentially located at the elastin-microfibrils interface

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Scanning electron microscopic and X ray microanalysis study of the mineral deposits in pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

1 reference

7 January 2021

Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum and angioid streaks. A review of 106 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Ultrastructural localization of extracellular matrix components in human retinal vessels and Bruch's membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Elastin: molecular description and function

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Function, evolution and structure of multidrug resistance protein (MRP).

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Osteopontin: a protein with diverse functions.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum: report of a case with reno-vascular hypertension

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum: a rare cause of hypertension in children

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Ocular findings in four siblings with pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Mitral Stenosis in Pseudoxanthoma Elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Angioid streaks and disciform macular detachment in Pagets disease (osteitis deformans)

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

The placenta in pseudoxanthoma elasticum: clinical, structural and immunochemical study

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Evidence for Increased Protease Activity Secreted from Cultured Fibroblasts from Patients with Pseudoxanthoma Elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

ABC Transporters: From Microorganisms to Man

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

67-kD elastin-binding protein is a protective "companion" of extracellular insoluble elastin and intracellular tropoelastin

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Analysis of the structure and expression pattern of MRP7 (ABCC10), a new member of the MRP subfamily

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

[Pseudoxanthoma elasticum. Skin changes as a marker of systemic illness]

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Bruch's membrane in pseudoxanthoma elasticum. Histochemical, ultrastructural, and x-ray microanalytical study of the membrane and angioid streak areas

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

New report of severe coronary artery disease in an eighteen-year-old girl with pseudoxanthoma elasticum. Case report and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Molecular genetics and pathophysiology of Menkes disease

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

[Cardiovascular manifestations of pseudoxanthoma elasticum (Grönblad-Strandberg syndrome)]

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Classification of pseudoxanthoma elasticum: report of a consensus conference

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum and mitral-valve prolapse

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Late onset focal dermal elastosis: a distinct clinicopathologic entity?

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Glycosaminoglycans of skin and urine in pseudoxanthoma elasticum: evidence for chondroitin 6-sulfate alteration

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Transport function and hepatocellular localization of mrp6 in rat liver

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Evolution of angioid streaks

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Macular degeneration in angioid streaks

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Collagens in ocular tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Elastin binds to a multifunctional 67-kilodalton peripheral membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Restrictive cardiomyopathy in pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Calciphylaxis with histologic changes of pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Sudden cardiac death owing to pseudoxanthoma elasticum: a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Elastic fiber during development and aging

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Echographic diagnosis of Drusen of the optic nerve head in patients with angioid streaks

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE).

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Fibroelastolytic patterns of intrinsic skin aging: pseudoxanthoma-elasticum-like papillary dermal elastolysis and white fibrous papulosis of the neck.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Angioid streaks are part of a familial syndrome of dyserythropoietic anaemia (CDA III)

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Periumbilical pseudoxanthoma elasticum associated with chronic renal failure and angioid streaks--apparent regression with hemodialysis

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

MRP6 (ABCC6) detection in normal human tissues and tumors.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Chorioretinal vascular abnormalities associated with angioid streaks and pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Pseudoxanthoma elasticum: an update

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

FLUORESCEIN FUNDUS PHOTOGRAPHY OF ANGIOID STREAKS

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Three-dimensional architecture of altered dermal elastic fibers in pseudoxanthoma elasticum: scanning electron microscopic studies

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Retinitis pigmentosa: defined from a molecular point of view

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Biochemistry of tropoelastin

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

The mineralization of elastic fibers and alterations of extracellular matrix in pseudoxanthoma elasticum. Ultrastructure, immunocytochemistry, and X-ray analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

Fine structure alterations of elastic fibers in pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2803%2900053-5

7 January 2021

10.1016/S0039-6257(03)00053-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850230%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference