191 related articles for article (PubMed ID: 15098239)
1. Does autosomal dominant pseudoxanthoma elasticum exist?
Plomp AS; Hu X; de Jong PT; Bergen AA
Am J Med Genet A; 2004 May; 126A(4):403-12. PubMed ID: 15098239
[TBL] [Abstract][Full Text] [Related]
2. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
Ringpfeil F; McGuigan K; Fuchsel L; Kozic H; Larralde M; Lebwohl M; Uitto J
J Invest Dermatol; 2006 Apr; 126(4):782-6. PubMed ID: 16410789
[TBL] [Abstract][Full Text] [Related]
3. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
Bergen AA; Plomp AS; Gorgels TG; de Jong PT
Ned Tijdschr Geneeskd; 2004 Aug; 148(32):1586-9. PubMed ID: 15382558
[TBL] [Abstract][Full Text] [Related]
4. [Pseudodominant inheritance of pseudoxanthoma elasticum].
Charbel Issa P; Gliem M; Holz FG; Knabbe C; Hendig D
Ophthalmologe; 2015 Aug; 112(8):686-90. PubMed ID: 25735631
[TBL] [Abstract][Full Text] [Related]
5. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
Akoglu G; Li Q; Gokoz O; Gazyagci AS; Uitto J
Int J Dermatol; 2014 Jun; 53(6):692-8. PubMed ID: 23675997
[TBL] [Abstract][Full Text] [Related]
6. Mutations in ABCC6 cause pseudoxanthoma elasticum.
Bergen AA; Plomp AS; Schuurman EJ; Terry S; Breuning M; Dauwerse H; Swart J; Kool M; van Soest S; Baas F; ten Brink JB; de Jong PT
Nat Genet; 2000 Jun; 25(2):228-31. PubMed ID: 10835643
[TBL] [Abstract][Full Text] [Related]
7. Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
Meloni I; Rubegni P; De Aloe G; Bruttini M; Pianigiani E; Cusano R; Seri M; Mondillo S; Federico A; Bardelli AM; Andreassi L; Fimiani M; Renieri A
Hum Mutat; 2001; 18(1):85. PubMed ID: 11439001
[TBL] [Abstract][Full Text] [Related]
8. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S; Lumsden A; Guenther UP; Foernzler D; Christen-Zäch S; Daugherty C; Ramesar RK; Lebwohl M; Hohl D; Neldner KH; Lindpaintner K; Richards RI; Struk B
Hum Mutat; 2005 Sep; 26(3):235-48. PubMed ID: 16086317
[TBL] [Abstract][Full Text] [Related]
9. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.
Martin L; Chassaing N; Delaite D; Estève E; Maître F; Le Bert M
J Eur Acad Dermatol Venereol; 2007 Mar; 21(3):368-73. PubMed ID: 17309461
[TBL] [Abstract][Full Text] [Related]
10. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
Hendig D; Schulz V; Eichgrün J; Szliska C; Götting C; Kleesiek K
J Mol Med (Berl); 2005 Feb; 83(2):140-7. PubMed ID: 15723264
[TBL] [Abstract][Full Text] [Related]
11. Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N; Martin L; Mazereeuw J; Barrié L; Nizard S; Bonafé JL; Calvas P; Hovnanian A
J Invest Dermatol; 2004 Mar; 122(3):608-13. PubMed ID: 15086542
[TBL] [Abstract][Full Text] [Related]
12. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.
Martin L; Maître F; Bonicel P; Daudon P; Verny C; Bonneau D; Le Saux O; Chassaing N
Arch Dermatol; 2008 Mar; 144(3):301-6. PubMed ID: 18347285
[TBL] [Abstract][Full Text] [Related]
13. Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data.
Christen-Zäch S; Huber M; Struk B; Lindpaintner K; Munier F; Panizzon RG; Hohl D
Br J Dermatol; 2006 Jul; 155(1):89-93. PubMed ID: 16792757
[TBL] [Abstract][Full Text] [Related]
14. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O; Urban Z; Tschuch C; Csiszar K; Bacchelli B; Quaglino D; Pasquali-Ronchetti I; Pope FM; Richards A; Terry S; Bercovitch L; de Paepe A; Boyd CD
Nat Genet; 2000 Jun; 25(2):223-7. PubMed ID: 10835642
[TBL] [Abstract][Full Text] [Related]
15. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Schulz V; Hendig D; Henjakovic M; Szliska C; Kleesiek K; Götting C
Hum Mutat; 2006 Aug; 27(8):831. PubMed ID: 16835894
[TBL] [Abstract][Full Text] [Related]
16. Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum.
Bowen AR; Götting C; LeBoit PE; McCalmont TH
J Cutan Pathol; 2007 Oct; 34(10):777-81. PubMed ID: 17880583
[TBL] [Abstract][Full Text] [Related]
17. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
Legrand A; Pujol C; Durand CM; Mesnil A; Rubera I; Duranton C; Zuily S; Sousa AB; Renaud M; Boucher JL; Pietrancosta N; Adham S; Orssaud C; Marelli C; Casali C; Ziccardi L; Villain N; Ewenczyk C; Durr A; Mignot C; Stevanin G; Billon C; Hureaux M; Jeunemaitre X; Goizet C; Albuisson J
J Intern Med; 2021 May; 289(5):709-725. PubMed ID: 33107650
[TBL] [Abstract][Full Text] [Related]
18. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X; Plomp A; Wijnholds J; Ten Brink J; van Soest S; van den Born LI; Leys A; Peek R; de Jong PT; Bergen AA
Eur J Hum Genet; 2003 Mar; 11(3):215-24. PubMed ID: 12673275
[TBL] [Abstract][Full Text] [Related]
19. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
Cai L; Lumsden A; Guenther UP; Neldner SA; Zäch S; Knoblauch H; Ramesar R; Hohl D; Callen DF; Neldner KH; Lindpaintner K; Richards RI; Struk B
J Mol Med (Berl); 2001 Sep; 79(9):536-46. PubMed ID: 11692167
[TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype.
Khan FF; Erfan M; Kanwal N; Naeem M
Mol Biol Rep; 2019 Feb; 46(1):1363-1368. PubMed ID: 30805891
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]