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Quoted phrase not found in phrase index: "Abnormal cutaneous collagen fibril morphology"
Page 1
Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.
Odorisio T, Di Salvio M, Orecchia A, Di Zenzo G, Piccinni E, Cianfarani F, Travaglione A, Uva P, Bellei B, Conti A, Zambruno G, Castiglia D. Odorisio T, et al. Hum Mol Genet. 2014 Aug 1;23(15):3907-22. doi: 10.1093/hmg/ddu102. Epub 2014 Mar 5. Hum Mol Genet. 2014. PMID: 24599399
It is due to mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils connecting the cutaneous basement membrane to the dermis. Identical COL7A1 mutations often result in inter- and intra-familial disease variability, …
It is due to mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils connecting the …
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A, Pulkkinen L, Uitto J. Järvikallio A, et al. Hum Mutat. 1997;10(5):338-47. doi: 10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B. Hum Mutat. 1997. PMID: 9375848
In the dystrophic forms of EB (DEB), tissue separation occurs below the lamina densa within the upper papillary dermis at the level of anchoring fibrils, which are frequently altered in morphology, reduced in number, or entirely absent. Since type VII collagen …
In the dystrophic forms of EB (DEB), tissue separation occurs below the lamina densa within the upper papillary dermis at the level of ancho …
Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome).
Jablonska S, Blaszczyk M. Jablonska S, et al. Pediatr Dermatol. 2000 Mar-Apr;17(2):105-10. doi: 10.1046/j.1525-1470.2000.01724.x. Pediatr Dermatol. 2000. PMID: 10792797
The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive cases of congenital fascial dystrophy, which is probably a variant of heterogeneous stiff skin syndrome involving exclusively fascia, is …
The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive case …
The course of pregnancy and childbirth in three mothers with recessive dystrophic epidermolysis bullosa.
Hanafusa T, Tamai K, Umegaki N, Yamaguchi Y, Fukuda S, Nishikawa Y, Yaegashi N, Okuyama R, McGrath JA, Katayama I. Hanafusa T, et al. Clin Exp Dermatol. 2012 Jan;37(1):10-4. doi: 10.1111/j.1365-2230.2011.04179.x. Epub 2011 Oct 18. Clin Exp Dermatol. 2012. PMID: 22007850
BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal recessive skin disease caused by mutations in the type VII collagen gene (COL7A1), resulting in detachment of the entire epidermis due to loss or hypoplasticity of the anchoring fibrils th …
BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal recessive skin disease caused by mutations in the type VII …
Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.
Hausser I, Anton-Lamprecht I. Hausser I, et al. Hum Genet. 1991 Oct;87(6):693-700. doi: 10.1007/BF00201728. Hum Genet. 1991. PMID: 1937472
The ubiquitous elastic fibers in other organs and arteries may be similarly involved. Moreover, there is co-involvement of collagen fibrils at the electron microscopical level. The three adolescent siblings did not show any clinical PXE symptoms. ...Dermal connectiv …
The ubiquitous elastic fibers in other organs and arteries may be similarly involved. Moreover, there is co-involvement of collagen …