FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2108253463> ?p ?o ?g. }

• W2108253463 endingPage "3426" @default.
• W2108253463 startingPage "3416" @default.
• W2108253463 abstract "Heterozygous nonsense mutations in the CDSN gene encoding corneodesmosin (CDSN), an adhesive protein expressed in cornified epithelia and hair follicles, cause hypotrichosis simplex of the scalp (HSS), a nonsyndromic form of alopecia. Truncated mutants of CDSN ((mut)CDSN), which bear the N-terminal adhesive Gly/Ser-rich domain (GS domain) of the protein, abnormally accumulate as amorphous deposits at the periphery of hair follicles and in the papillary dermis of the patient skin. Here, we present evidence that the (mut)CDSN deposits display an affinity for amyloidophilic dyes, namely Congo red and thioflavin T. We also detected the serum amyloid protein component in the dermis of HSS patients. We demonstrated that recombinant forms of (mut)CDSN and of the GS domain assemble in vitro into ring-shaped oligomeric structures and fibrils. The amyloid-like nature of the fibrils was demonstrated by dye binding and Fourier transform infrared spectrometry measurements. We showed that the ring-shaped oligomers of (mut)CDSN, but not the fibrillar forms, are toxic to cultured keratinocytes. Finally, online algorithms predicted the GS domain to be a particularly disordered region of CDSN in agreement with circular dichroism measurements. This identifies HSS as a human amyloidosis related to the aggregation of natively unfolded (mut)CDSN polypeptides into amyloid fibrils." @default.
• W2108253463 created "2016-06-24" @default.
• W2108253463 creator A5018941888 @default.
• W2108253463 creator A5032083001 @default.
• W2108253463 creator A5034599250 @default.
• W2108253463 creator A5035470406 @default.
• W2108253463 creator A5038633678 @default.
• W2108253463 creator A5042152142 @default.
• W2108253463 creator A5059615023 @default.
• W2108253463 creator A5059688129 @default.
• W2108253463 creator A5083847995 @default.
• W2108253463 creator A5084373973 @default.
• W2108253463 creator A5088362192 @default.
• W2108253463 creator A5088825362 @default.
• W2108253463 date "2010-05-06" @default.
• W2108253463 modified "2023-10-13" @default.
• W2108253463 title "A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin" @default.
• W2108253463 cites W1598625180 @default.
• W2108253463 cites W1965212214 @default.
• W2108253463 cites W1969165181 @default.
• W2108253463 cites W1970546957 @default.
• W2108253463 cites W1974304782 @default.
• W2108253463 cites W1980508578 @default.
• W2108253463 cites W1991241547 @default.
• W2108253463 cites W1991469313 @default.
• W2108253463 cites W2002464910 @default.
• W2108253463 cites W2012803082 @default.
• W2108253463 cites W2017457068 @default.
• W2108253463 cites W2020113731 @default.
• W2108253463 cites W2030776726 @default.
• W2108253463 cites W2034290992 @default.
• W2108253463 cites W2044448989 @default.
• W2108253463 cites W2049476357 @default.
• W2108253463 cites W2050017343 @default.
• W2108253463 cites W2051498746 @default.
• W2108253463 cites W2054578426 @default.
• W2108253463 cites W2054861016 @default.
• W2108253463 cites W2055378374 @default.
• W2108253463 cites W2057709942 @default.
• W2108253463 cites W2060215277 @default.
• W2108253463 cites W2062805185 @default.
• W2108253463 cites W2065945846 @default.
• W2108253463 cites W2067719280 @default.
• W2108253463 cites W2076649866 @default.
• W2108253463 cites W2083992533 @default.
• W2108253463 cites W2087785999 @default.
• W2108253463 cites W2089491263 @default.
• W2108253463 cites W2090702020 @default.
• W2108253463 cites W2093861673 @default.
• W2108253463 cites W2097647470 @default.
• W2108253463 cites W2102753325 @default.
• W2108253463 cites W2105135480 @default.
• W2108253463 cites W2121963977 @default.
• W2108253463 cites W2129179796 @default.
• W2108253463 cites W2138470479 @default.
• W2108253463 cites W2156407548 @default.
• W2108253463 cites W2159325611 @default.
• W2108253463 cites W2161294382 @default.
• W2108253463 cites W2165186407 @default.
• W2108253463 doi "https://doi.org/10.1096/fj.10-155622" @default.
• W2108253463 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20448140" @default.
• W2108253463 hasPublicationYear "2010" @default.
• W2108253463 type Work @default.
• W2108253463 sameAs 2108253463 @default.
• W2108253463 citedByCount "24" @default.
• W2108253463 countsByYear W21082534632012 @default.
• W2108253463 countsByYear W21082534632013 @default.
• W2108253463 countsByYear W21082534632014 @default.
• W2108253463 countsByYear W21082534632015 @default.
• W2108253463 countsByYear W21082534632016 @default.
• W2108253463 countsByYear W21082534632017 @default.
• W2108253463 countsByYear W21082534632019 @default.
• W2108253463 countsByYear W21082534632020 @default.
• W2108253463 crossrefType "journal-article" @default.
• W2108253463 hasAuthorship W2108253463A5018941888 @default.
• W2108253463 hasAuthorship W2108253463A5032083001 @default.
• W2108253463 hasAuthorship W2108253463A5034599250 @default.
• W2108253463 hasAuthorship W2108253463A5035470406 @default.
• W2108253463 hasAuthorship W2108253463A5038633678 @default.
• W2108253463 hasAuthorship W2108253463A5042152142 @default.
• W2108253463 hasAuthorship W2108253463A5059615023 @default.
• W2108253463 hasAuthorship W2108253463A5059688129 @default.
• W2108253463 hasAuthorship W2108253463A5083847995 @default.
• W2108253463 hasAuthorship W2108253463A5084373973 @default.
• W2108253463 hasAuthorship W2108253463A5088362192 @default.
• W2108253463 hasAuthorship W2108253463A5088825362 @default.
• W2108253463 hasConcept C104317684 @default.
• W2108253463 hasConcept C12554922 @default.
• W2108253463 hasConcept C133571119 @default.
• W2108253463 hasConcept C150394285 @default.
• W2108253463 hasConcept C153911025 @default.
• W2108253463 hasConcept C178790620 @default.
• W2108253463 hasConcept C179104552 @default.
• W2108253463 hasConcept C185592680 @default.
• W2108253463 hasConcept C27523624 @default.
• W2108253463 hasConcept C2777633098 @default.
• W2108253463 hasConcept C2779155187 @default.
• W2108253463 hasConcept C40767141 @default.

• next