scholarly journals ABCC6 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Abcc6 Gene

Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks

2009 ◽  
Vol 380 (3) ◽  
pp. 548-553 ◽  
Author(s):  
Naoyuki Sato ◽  
Tomohiro Nakayama ◽  
Yoshihiro Mizutani ◽  
Mitsuko Yuzawa
Keyword(s):  
Japanese Patients ◽  
Angioid Streaks ◽  
Novel Mutations ◽  
Abcc6 Gene

scholarly journals Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes

2012 ◽  
Vol 5 (1) ◽  
Author(s):  
Marianne K Kringen ◽  
Camilla Stormo ◽  
Runa M Grimholt ◽  
Jens P Berg ◽  
Armin P Piehler
Keyword(s):  
Copy Number ◽  
Copy Number Variations ◽  
Atp Binding ◽  
Atp Binding Cassette Transporter ◽  
Abcc6 Gene ◽  
Atp Binding Cassette

scholarly journals ABCC6 gene polymorphism associated with variation in plasma lipoproteins

2001 ◽  
Vol 46 (12) ◽  
pp. 699-705 ◽  
Author(s):  
J. Wang ◽  
S. Near ◽  
K. Young ◽  
P. W. Connelly ◽  
R. A. Hegele
Keyword(s):  
Gene Polymorphism ◽  
Plasma Lipoproteins ◽  
Abcc6 Gene

scholarly journals ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Satoshi Katagiri ◽  
Yuya Negishi ◽  
Kei Mizobuchi ◽  
Mitsuyoshi Urashima ◽  
Tadashi Nakano ◽  
...  
Keyword(s):  
Medical Records ◽  
Sanger Sequencing ◽  
Pseudoxanthoma Elasticum ◽  
Japanese Patients ◽  
Compound Heterozygous ◽  
Angioid Streaks ◽  
Dermatological Examination ◽  
Abcc6 Gene ◽  
Novel Variants ◽  
Unknown Significance

Purpose. To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). Patients and Methods. This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing. Results. Eight ABCC6 variants were identified as candidate disease-causing variants. These eight variants included five known variants (p.Q378X, p.R419Q, p.V848CfsX83, p.R1114C, and p.R1357W), one previously reported variant (p.N428S) of unknown significance, and two novel variants (c.1939C>T [p.H647Y] and c.3374C>T [p.S1125F]); the three latter variants were determined to be variants of significance. The following four variants were frequently identified: p.V848CfsX83 (14/40 alleles, 35.0%), p.Q378X (7/40 alleles, 17.5%), p.R1357W (6/40 alleles, 15.0%), and p.R419Q (4/40 alleles, 10.0%). The ABCC6 variants were identified in compound heterozygous or homozygous states in 13 of 18 probands. Two families showed a pseudodominant inheritance pattern. Pseudoxanthoma elasticum was seen in 15 of 17 patients (88.2%) who underwent dermatological examination. Conclusions. We identified disease-causing ABCC6 variants that were in homozygous or compound heterozygous states in 13 of 18 families (72.2%). Our results indicated that ABCC6 variants play a significant role in patients with AS in the Japanese population.

Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor

2006 ◽  
Vol 350 (4) ◽  
pp. 1082-1087 ◽  
Author(s):  
Marcin Ratajewski ◽  
Grzegorz Bartosz ◽  
Lukasz Pulaski
Keyword(s):  
Retinoid X Receptor ◽  
Abcc6 Gene

New ABCC6 gene mutations in German pseudoxanthoma elasticum patients

2004 ◽  
Vol 83 (2) ◽  
pp. 140-147 ◽  
Author(s):  
Doris Hendig ◽  
Veronika Schulz ◽  
Jutta Eichgr�n ◽  
Christiane Szliska ◽  
Christian G�tting ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Pseudoxanthoma Elasticum ◽  
Abcc6 Gene

Identification of ABCC6 gene mutations in the Japanese patients with pseudoxanthoma elasticum (PXE)

2013 ◽  
Vol 69 (2) ◽  
pp. e57-e58
Author(s):  
Akira Iwanaga ◽  
Mariko Yozaki ◽  
Yosuke Yagi ◽  
Koji Maemura ◽  
Eiko Tsuiki ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Pseudoxanthoma Elasticum ◽  
Japanese Patients ◽  
Abcc6 Gene

Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum

2005 ◽  
Vol 40 (2) ◽  
pp. 115-121 ◽  
Author(s):  
E KATONA ◽  
C ASLANIDIS ◽  
E REMENYIK ◽  
M CSIKOS ◽  
S KARPATI ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Abcc6 Gene

scholarly journals Role of Serum Fetuin-A, a Major Inhibitor of Systemic Calcification, in Pseudoxanthoma Elasticum

2006 ◽  
Vol 52 (2) ◽  
pp. 227-234 ◽  
Author(s):  
Doris Hendig ◽  
Veronika Schulz ◽  
Marius Arndt ◽  
Christiane Szliska ◽  
Knut Kleesiek ◽  
...  
Keyword(s):  
Blood Donors ◽  
Family Members ◽  
Gene Mutations ◽  
Pseudoxanthoma Elasticum ◽  
Elastic Fibers ◽  
Fetuin A ◽  
Cardiovascular Involvement ◽  
Abcc6 Gene ◽  
Sandwich Enzyme Immunoassay

Abstract Background: Pseudoxanthoma elasticum (PXE) is a hereditary disorder of the connective tissue affecting the skin, retina, and cardiovascular system and characterized by progressive calcification of abnormal and fragmented elastic fibers in the extracellular matrix. The aim of the present study was to investigate the association of fetuin-A, a major systemic inhibitor of calcification, with PXE. Methods: Fetuin-A was measured by quantitative sandwich enzyme immunoassay in sera from 110 German patients with PXE, 53 unaffected first-degree family members, and 80 healthy blood donors. We determined the distribution of the fetuin-A polymorphisms c.742C>T (p.T248M) and c.766C>G (p.T256S) in these same 3 groups. The occurrences of the frequent ABCC6 gene mutations c.3421C>T (p.R1141X) and c.EX23_EX29del were also assessed. Results: Serum fetuin-A concentrations in male and female PXE patients were lower than in unaffected first-degree relatives and controls [mean (SD) concentrations, 0.55 (0.11) g/L in patients; 0.70 (0.23) g/L in relatives; and 0.80 (0.23) g/L in controls (P <0.0001)]. Serum fetuin-A was higher in female PXE patients with cardiovascular involvement than in the corresponding male group (P <0.05). The fetuin-A polymorphism frequencies did not differ among PXE patients, family members, and blood donors. Conclusion: A deficiency of multidrug resistance-associated protein 6 leads to alteration of circulating substrates, e.g., inhibitors of calcification as fetuin-A, leading to progressive mineralization of elastic fibers in PXE.

scholarly journals Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives

Biomedicines ◽  
2021 ◽  
Vol 9 (12) ◽  
pp. 1895
Author(s):  
Max Jonathan Stumpf ◽  
Nadjib Schahab ◽  
Georg Nickenig ◽  
Dirk Skowasch ◽  
Christian Alexander Schaefer
Keyword(s):  
Current Knowledge ◽  
Treatment Options ◽  
Pseudoxanthoma Elasticum ◽  
Skin Lesions ◽  
Arterial Calcification ◽  
Future Perspectives ◽  
Strong Inhibitor ◽  
New Therapeutic Approaches ◽  
Pathogenic Variants ◽  
Abcc6 Gene

Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with an estimated prevalence of between 1 per 25,000 and 56,000. Its main hallmarks are characteristic skin lesions, development of choroidal neovascularization, and early-onset arterial calcification accompanied by a severe reduction in quality-of-life. Underlying the pathology are recessively transmitted pathogenic variants of the ABCC6 gene, which results in a deficiency of ABCC6 protein. This results in reduced levels of peripheral pyrophosphate, a strong inhibitor of peripheral calcification, but also dysregulation of blood lipids. Although various treatment options have emerged during the last 20 years, many are either already outdated or not yet ready to be applied generally. Clinical physicians often are left stranded while patients suffer from the consequences of outdated therapies, or feel unrecognized by their attending doctors who may feel uncertain about using new therapeutic approaches or not even know about them. In this review, we summarize the broad spectrum of treatment options for PXE, focusing on currently available clinical options, the latest research and development, and future perspectives.

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