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Quoted phrase not found in phrase index: "Abnormal cutaneous collagen fibril morphology"
Page 1
Diagnosis and clinical features of epidermolysis bullosa acquisita.
Caux F. Caux F. Dermatol Clin. 2011 Jul;29(3):485-91, x. doi: 10.1016/j.det.2011.03.017. Dermatol Clin. 2011. PMID: 21605816 Review.
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease characterized by immune deposits on anchoring fibrils of cutaneous and mucosal basement membrane zones. It is due to circulating antibodies directed to type VII collagen
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease characterized by immune deposits on anchoring …
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A, Gray-Edwards H, Coghill LM, Lyons LA. McElroy A, et al. J Vet Intern Med. 2023 Sep-Oct;37(5):1716-1724. doi: 10.1111/jvim.16805. Epub 2023 Aug 18. J Vet Intern Med. 2023. PMID: 37594181 Free PMC article.
Criteria defining variant pathogenicity were examined including human disease variant databases. RESULTS: Histology showed sparse, disorganized collagen and an increase in cutaneous mast cells. Electron microscopy identified ultrastructural defects commonly s …
Criteria defining variant pathogenicity were examined including human disease variant databases. RESULTS: Histology showed sparse, di …
Collagen VII Expression Is Required in Both Keratinocytes and Fibroblasts for Anchoring Fibril Formation in Bilayer Engineered Skin Substitutes.
Supp DM, Hahn JM, Combs KA, McFarland KL, Schwentker A, Boissy RE, Boyce ST, Powell HM, Lucky AW. Supp DM, et al. Cell Transplant. 2019 Sep-Oct;28(9-10):1242-1256. doi: 10.1177/0963689719857657. Epub 2019 Jul 4. Cell Transplant. 2019. PMID: 31271052 Free PMC article.
The blistering disease recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the gene encoding collagen VII (COL7), which forms anchoring fibrils that attach the epidermis to the dermis. ...Because COL7 in normal skin is expressed in both fibro …
The blistering disease recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the gene encoding collagen VII (CO …
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.
Wagner JE, Ishida-Yamamoto A, McGrath JA, Hordinsky M, Keene DR, Woodley DT, Chen M, Riddle MJ, Osborn MJ, Lund T, Dolan M, Blazar BR, Tolar J. Wagner JE, et al. N Engl J Med. 2010 Aug 12;363(7):629-39. doi: 10.1056/NEJMoa0910501. N Engl J Med. 2010. PMID: 20818854 Free PMC article. Clinical Trial.
Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduction in blister formation between 30 and 130 days after transplantation. We observed increased C7 deposition at the dermal-epidermal j …
Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduct …
An unusually large human eye with abnormal scleral collagen.
Virgilio LA, Williams RJ, Klintworth GK. Virgilio LA, et al. Arch Ophthalmol. 1976 Jan;94(1):101-5. doi: 10.1001/archopht.1976.03910030047012. Arch Ophthalmol. 1976. PMID: 1247400
Morphologic observations on corneal and cutaneous collagen from the patient were unremarkable. No abnormality was detected on chemical analysis of cutaneous collagen. ...
Morphologic observations on corneal and cutaneous collagen from the patient were unremarkable. No abnormality wa …
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
Nicholls AC, Oliver JE, McCarron S, Harrison JB, Greenspan DS, Pope FM. Nicholls AC, et al. J Med Genet. 1996 Nov;33(11):940-6. doi: 10.1136/jmg.33.11.940. J Med Genet. 1996. PMID: 8950675 Free PMC article.
Analysis of the collagens produced by cultured fibroblasts showed that the type V collagen had a population of alpha 1 (V) chains shorter than normal. ...These observations support the hypothesis that type V, although quantitatively a minor collagen, h …
Analysis of the collagens produced by cultured fibroblasts showed that the type V collagen had a population of alpha 1 (V) cha …
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 …
Altered expression of NU-T2-BMZ antigen and type VII collagen in basal cell epithelioma.
Yasaka N, Kawabe K, Furue M, Tamaki K, Ishibashi Y. Yasaka N, et al. J Dermatol Sci. 1994 Apr;7(2):136-41. doi: 10.1016/0923-1811(94)90087-6. J Dermatol Sci. 1994. PMID: 8060915
The cutaneous basement membrane zone (BMZ) is composed of a large number of molecular components. ...The abnormal expression of NU-T2-BMZ antigen and type VII collagen may partly explain the space formation between the BCE nests and the surrounding stroma fre …
The cutaneous basement membrane zone (BMZ) is composed of a large number of molecular components. ...The abnormal expression o …
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
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J. Christiano AM, et al. Genomics. 1994 May 1;21(1):160-8. doi: 10.1006/geno.1994.1238. Genomics. 1994. PMID: 8088783 Free article.
The most severe, dystrophic (scarring) forms of EB demonstrate blister formation below the cutaneous basement membrane at the level of the anchoring fibrils. Ultrastructural observations of altered anchoring fibrils and genetic linkage to the gene enco …
The most severe, dystrophic (scarring) forms of EB demonstrate blister formation below the cutaneous basement membrane at the level o …
11 results