Results 41 to 50 of about 2,814 (184)

Identification of a novel p53 target, COL17A1, that inhibits breast cancer cell migration and invasion

Oncotarget, 2017
p53 mutation is a marker of poor prognosis in breast cancers. To identify downstream targets of p53, we screened two transcriptome datasets, including cDNA microarrays of MCF10A breast epithelial cells with wild-type p53 or p53-null background, and RNA ...
Varalee Yodsurang, C. Tanikawa, Takafumi Miyamoto, P. H. Y. Lo, M. Hirata, K. Matsuda   +5 more
semanticscholar   +4 more sources

Identifying novel genetic variants in epidermolysis Bullosa among Middle Eastern Arab Families: Insights from whole exome sequencing and computational analysis. [PDF]

PLoS ONE
BackgroundEpidermolysis Bullosa (EB) is a rare genetic disorder that results in fragile skin and blistering and may lead to mucous membrane involvement. The disease manifests in several subtypes, among which the most serious conditions are dystrophic and
Nancy Shehata, Babajan Banaganapalli, Hadiah Bassam Al Mahdi, Shmoukh Alghuraibi, Mahmoud Younis, Sultana Abdulghani, Noor Ahmad Shaik, Zuhier Awan, Fahad Hakami   +8 more
doaj   +2 more sources

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta [PDF]

, 2023
\ua9 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.Background: Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (>230) cause junctional epidermolysis bullosa (JEB), a
Acosta De Camargo MG, Patel A, Simmonds J, Liu L, Nikolopoulos G, Moffat M, Rodd HD, Mighell AJ, Al-Jawad M, Jafri H, Brown CJ, Antanaviciute A, Harfoush A, Charlton R, Watson CM, Poulter JA, Smith CEL, Balmer R, Hany U, Inglehearn CF   +19 more
core   +4 more sources

Multiple Correcting COL17A1 Mutations in Patients with Revertant Mosaicism of Epidermolysis Bullosa [PDF]

The American Journal of Human Genetics, 2005
Revertant mosaicism by somatic reversion of inherited mutations has been described for a number of genetic diseases. Several mechanisms can underlie this reversion process, such as gene conversion, crossing-over, true back mutation, and second-site mutation. Here, we report the occurrence of multiple corrections in two unrelated probands with revertant
Pasmooij, Anna M G, Pas, Hendri H, Deviaene, Franciska C L, Nijenhuis, Miranda, Jonkman, Marcel F   +4 more
openaire   +5 more sources

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa

Frontiers in Pediatrics, 2021
Epidermolysis bullosa (EB) is a genetic skin disorder that shows heterogeneous clinical fragility. The patients develop skin blisters congenitally or in the early years of life at the dermo-epithelial junctions, including erosions, hyperkeratosis over ...
Fozia Fozia, Fozia Fozia, Rubina Nazli, Nousheen Bibi, Sher Alam Khan, Noor Muhammad, Nafila Shakeeb, Saadullah Khan, Musharraf Jelani, Naveed Wasif, Naveed Wasif   +10 more
doaj   +1 more source

Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice.

PLoS ONE, 2023
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional epidermolysis bullosa (JEB) caused by a hypomorphic mutation (Lamc2jeb) in mice.
Thomas J Sproule, Robert Y Wilpan, Benjamin E Low, Kathleen A Silva, Deepak Reyon, J Keith Joung, Michael V Wiles, Derry C Roopenian, John P Sundberg   +8 more
doaj   +1 more source

Monogenic and epistatic effects of Col17a1 mutations.

, 2023
Monogenic and epistatic effects of Col17a1 mutations.
Benjamin E. Low (8031092), J. Keith Joung (15102654), Thomas J. Sproule (16535011), Michael V. Wiles (8031101), Deepak Reyon (163252), Robert Y. Wilpan (17101887), Derry C. Roopenian (14879414), Kathleen A. Silva (9142877), John P. Sundberg (7251050)   +8 more
core   +1 more source

ADAM10: Possible functions in enamel development

Frontiers in Physiology, 2022
ADAM10 is A Disintegrin And Metalloproteinase (ADAM) family member that is membrane bound with its catalytic domain present on the cell surface. It is a sheddase that cleaves anchored cell surface proteins to shed them from the cell surface.
Shifa Shahid, Atsushi Ikeda, Michelle C. Layana, John D. Bartlett   +3 more
doaj   +1 more source

Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish‐Swedish ancestry

Acta ophthalmologica, 2023
To describe four Finnish families with epithelial recurrent erosion dystrophy (ERED) caused by the pathogenic variant c.3156C>T in collagen type XVII alpha 1 chain gene (COL17A1).
J. Turunen, Ilpo S. Tuisku, P. Repo, Sanna Mörtenhumer, S. Kawan, Reetta-Stiina Järvinen, Anna Korsbäck, Annamari T. Immonen, T. Kivelä   +8 more
semanticscholar   +1 more source

Junctional epidermolysis bullosa: genotype-phenotype correlations [PDF]

Vestnik Dermatologii i Venerologii, 2023
Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, COL17A1, ITGA6 and ITGB4 genes. Junctional epidermolysis bullosa is characterized by clinical heterogeneity.
Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. Karamova, Ekaterina S. Monchakovskaya   +3 more
doaj   +1 more source