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Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q. Saeidian AH, et al. Genet Med. 2022 Jan;24(1):75-86. doi: 10.1016/j.gim.2021.08.011. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906475 Free PMC article.
A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. ...Our in vitro and in vivo functional assessment of 14 ABCC6 variants highlighted …
A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, a herit …
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY. Kim YJ, et al. Genes (Basel). 2021 Apr 30;12(5):675. doi: 10.3390/genes12050675. Genes (Basel). 2021. PMID: 33946315 Free PMC article.
Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmological re-phenotyping....
Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmol …
Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.
Pfau K, Lengyel I, Ossewaarde-van Norel J, van Leeuwen R, Risseeuw S, Leftheriotis G, Scholl HPN, Feltgen N, Holz FG, Pfau M. Pfau K, et al. Prog Retin Eye Res. 2024 Sep;102:101274. doi: 10.1016/j.preteyeres.2024.101274. Epub 2024 May 28. Prog Retin Eye Res. 2024. PMID: 38815804 Free PMC article. Review.
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine triphosphate (ATP). ...
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, …
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients.
Park HK, Lee KJ, Park JM, Kang K, Lee SJ, Kim JG, Cha JK, Kim DH, Han MK, Kang J, Kim BJ, Park TH, Park MS, Lee KB, Lee J, Hong KS, Cho YJ, Lee BC, Yu KH, Oh MS, Kim JT, Choi KH, Kim DE, Ryu WS, Choi JC, Kwon JH, Kim WJ, Shin DI, Sohn SI, Hong JH, Lee J, Lee K, Song J, Bae JS, Cheong HS, Debette S, Bae HJ. Park HK, et al. Ann Neurol. 2023 Apr;93(4):768-782. doi: 10.1002/ana.26575. Epub 2023 Jan 16. Ann Neurol. 2023. PMID: 36541592
We identified clinically relevant genetic variants (CRGVs) in 15 Mendelian stroke genes (GLA, NOTCH3, HTRA1, RNF213, ACVRL1, ENG, CBS, TREX1, ABCC6, COL4A1, FBN1, NF1, COL3A1, MT-TL1, and APP) using a customized, targeted next generation sequencing panel. RESULTS: Among 1, …
We identified clinically relevant genetic variants (CRGVs) in 15 Mendelian stroke genes (GLA, NOTCH3, HTRA1, RNF213, ACVRL1, ENG, CBS, TREX1 …
Pseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.
Ghaoui N, Abou-Rahal J, Nasser N, Kurban M, Abbas O. Ghaoui N, et al. Skinmed. 2024 Aug 2;22(3):172-177. eCollection 2024. Skinmed. 2024. PMID: 39090009 Review.
Mutations affecting the ATP-binding cassette subfamily C member 6 (ABCC6) gene or gamma-glutamyl carboxylase (GGCX) gene lead to PXE. Accumulating evidence in the literature has found that numerous disorders may demonstrate cutaneous PXE-like clinical and/or histologic fea …
Mutations affecting the ATP-binding cassette subfamily C member 6 (ABCC6) gene or gamma-glutamyl carboxylase (GGCX) gene lead to PXE. …
Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance.
Bisaccia F, Koshal P, Abruzzese V, Castiglione Morelli MA, Ostuni A. Bisaccia F, et al. Int J Mol Sci. 2021 Mar 11;22(6):2858. doi: 10.3390/ijms22062858. Int J Mol Sci. 2021. PMID: 33799762 Free PMC article. Review.
Some studies suggest that mutations of ABCC6 in the liver lead to a decrease in some circulating factor and indicate that PXE is a metabolic disease. ...Furthermore, a change in cytoskeleton rearrangement and decreased motility of HepG2 cells makes ABCC6 a potential …
Some studies suggest that mutations of ABCC6 in the liver lead to a decrease in some circulating factor and indicate that PXE is a me …
ABCC6 Involvement in Cerebral Small Vessel Disease: Potential Mechanisms and Associations.
Zedde M, Pascarella R. Zedde M, et al. Genes (Basel). 2025 Jun 23;16(7):728. doi: 10.3390/genes16070728. Genes (Basel). 2025. PMID: 40725385 Free PMC article. Review.
Mutations in ABCC6, identified as causing PXE, contribute to systemic metabolic dysfunction, with significant implications for cerebrovascular health. An association between ABCC6 mutations and cerebral SVD has been suggested in various studies, particularly in popu …
Mutations in ABCC6, identified as causing PXE, contribute to systemic metabolic dysfunction, with significant implications for cerebr …
Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W. Bartstra JW, et al. Atherosclerosis. 2021 May;324:18-26. doi: 10.1016/j.atherosclerosis.2021.03.012. Epub 2021 Mar 13. Atherosclerosis. 2021. PMID: 33812167 Free article.
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 gen …
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, …
Genetic Overlap of Thoracic Aortic Aneurysms and Intracranial Aneurysms.
Changez MIK, Nasir A, Sonsino A, Jeoffrey SM, Kalyanasundaram A, Zafar MA, Ziganshin BA, Elefteriades JA. Changez MIK, et al. Genes (Basel). 2025 Jan 26;16(2):154. doi: 10.3390/genes16020154. Genes (Basel). 2025. PMID: 40004483 Free PMC article. Review.
RESULTS: We identified 24 overlapping genes associated with TAA and ICA, including LTBP2, TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD2, SMAD3, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, FBN1, FBN2, ELN, LOX ACTA2, MYH11, MYLK, ABCC6, NOTCH1, MED12, PKD1, and PKD2. These genes are invo …
RESULTS: We identified 24 overlapping genes associated with TAA and ICA, including LTBP2, TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD2, SMAD3, COL1A2 …
Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice.
Ibold B, Tiemann J, Faust I, Ceglarek U, Dittrich J, Gorgels TGMF, Bergen AAB, Vanakker O, Van Gils M, Knabbe C, Hendig D. Ibold B, et al. Sci Rep. 2021 Jan 22;11(1):2137. doi: 10.1038/s41598-021-81573-1. Sci Rep. 2021. PMID: 33483533 Free PMC article.
Genetic studies link adenosine triphosphate-binding cassette transporter C6 (ABCC6) mutations to pseudoxanthoma elasticum (PXE). ABCC6 sequence variations are correlated with altered HDL cholesterol levels and an elevated risk of coronary artery diseases. However, t …
Genetic studies link adenosine triphosphate-binding cassette transporter C6 (ABCC6) mutations to pseudoxanthoma elasticum (PXE). A …
58 results