117 related articles for article (PubMed ID: 31400128)
1. [Analysis of ELN gene mutation in a pedigree affected with cutis laxa].
Xiao H; Zhang Z; Lyu X; Li T; Guo Q; Wang H; Zhang Q; Su J; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):785-788. PubMed ID: 31400128
[TBL] [Abstract][Full Text] [Related]
2. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.
Szabo Z; Crepeau MW; Mitchell AL; Stephan MJ; Puntel RA; Yin Loke K; Kirk RC; Urban Z
J Med Genet; 2006 Mar; 43(3):255-8. PubMed ID: 16085695
[TBL] [Abstract][Full Text] [Related]
3. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.
Graul-Neumann LM; Hausser I; Essayie M; Rauch A; Kraus C
Am J Med Genet A; 2008 Apr; 146A(8):977-83. PubMed ID: 18348261
[TBL] [Abstract][Full Text] [Related]
4. A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.
Okuneva EG; Kozina AA; Baryshnikova NV; Krasnenko AY; Tsukanov KY; Klimchuk OI; Surkova EI; Ilinsky VV
BMC Dermatol; 2019 Jan; 19(1):4. PubMed ID: 30704477
[TBL] [Abstract][Full Text] [Related]
5. Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN.
Vodo D; Sarig O; Peled A; Frydman M; Greenberger S; Sprecher E
Exp Dermatol; 2015 Nov; 24(11):885-7. PubMed ID: 26121527
[No Abstract] [Full Text] [Related]
6. A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
Siefring ML; Lawrence EC; Nguyen TC; Lu D; Pham G; Lorenchick C; Levine KL; Urban Z
Pediatr Dermatol; 2014; 31(3):347-9. PubMed ID: 24758204
[TBL] [Abstract][Full Text] [Related]
7. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
Elahi E; Kalhor R; Banihosseini SS; Torabi N; Pour-Jafari H; Houshmand M; Amini SS; Ramezani A; Loeys B
J Invest Dermatol; 2006 Jul; 126(7):1506-9. PubMed ID: 16691202
[TBL] [Abstract][Full Text] [Related]
8. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.
Rodriguez-Revenga L; Iranzo P; Badenas C; Puig S; Carrió A; Milà M
Arch Dermatol; 2004 Sep; 140(9):1135-9. PubMed ID: 15381555
[TBL] [Abstract][Full Text] [Related]
9. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).
Zhang MC; He L; Giro M; Yong SL; Tiller GE; Davidson JM
J Biol Chem; 1999 Jan; 274(2):981-6. PubMed ID: 9873040
[TBL] [Abstract][Full Text] [Related]
10. A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.
Duz MB; Kirat E; Coucke PJ; Koparir E; Gezdirici A; Paepe A; Callewaert B; Seven M
Clin Dysmorphol; 2017 Jul; 26(3):142-147. PubMed ID: 28383366
[TBL] [Abstract][Full Text] [Related]
11. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
Loeys B; Van Maldergem L; Mortier G; Coucke P; Gerniers S; Naeyaert JM; De Paepe A
Hum Mol Genet; 2002 Sep; 11(18):2113-8. PubMed ID: 12189163
[TBL] [Abstract][Full Text] [Related]
12. Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.
Makino T; Terada Y; Mizawa M; Hirono K; Adachi Y; Aoki S; Kubo A; Shimizu T
Clin Exp Dermatol; 2022 Oct; 47(10):1895-1897. PubMed ID: 36002914
[TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.
Tekedereli I; Demiral E; Gokce IK; Esener Z; Camtosun E; Akinci A
Clin Dysmorphol; 2019 Apr; 28(2):63-65. PubMed ID: 30640789
[TBL] [Abstract][Full Text] [Related]
14. Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.
Cabral-Macias J; Garcia-Montaño LA; Pérezpeña-Díazconti M; Aguilar MC; Garcia G; Vencedor-Meraz CI; Graue-Hernandez EO; Chacón-Camacho OF; Zenteno JC
Mol Vis; 2020; 26():345-354. PubMed ID: 32368002
[TBL] [Abstract][Full Text] [Related]
15. Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene.
Krarup NT; Hvidbjerg M; Zaremba T; Sommerlund M; Christensen MK
Am J Med Genet A; 2023 Apr; 191(4):1059-1064. PubMed ID: 36541930
[TBL] [Abstract][Full Text] [Related]
16. Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide.
Olsen DR; Fazio MJ; Shamban AT; Rosenbloom J; Uitto J
J Biol Chem; 1988 May; 263(14):6465-7. PubMed ID: 3360789
[TBL] [Abstract][Full Text] [Related]
17. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
Markova D; Zou Y; Ringpfeil F; Sasaki T; Kostka G; Timpl R; Uitto J; Chu ML
Am J Hum Genet; 2003 Apr; 72(4):998-1004. PubMed ID: 12618961
[TBL] [Abstract][Full Text] [Related]
18. Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes.
Hu Q; Reymond JL; Pinel N; Zabot MT; Urban Z
J Invest Dermatol; 2006 Feb; 126(2):283-90. PubMed ID: 16374472
[TBL] [Abstract][Full Text] [Related]
19. Defective protein glycosylation in patients with cutis laxa syndrome.
Morava E; Wopereis S; Coucke P; Gillessen-Kaesbach G; Voit T; Smeitink J; Wevers R; Grünewald S
Eur J Hum Genet; 2005 Apr; 13(4):414-21. PubMed ID: 15657616
[TBL] [Abstract][Full Text] [Related]
20. Elastin-driven genetic diseases.
Duque Lasio ML; Kozel BA
Matrix Biol; 2018 Oct; 71-72():144-160. PubMed ID: 29501665
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
