Zobrazeno 1 - 10
of 471
pro vyhledávání: '"JONKMAN, MF"'
Publikováno v:
American Journal of Human Genetics, 77(5), 727-740. CELL PRESS
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 m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::0b340ff0f1b49a77504f1d9552df2841
https://research.rug.nl/en/publications/fc1e41c1-d250-4607-b94b-734c48ef79db
https://research.rug.nl/en/publications/fc1e41c1-d250-4607-b94b-734c48ef79db
Publikováno v:
Nederlands Tijdschrift voor Dermatologie & Venereologie, 10, 398-402. DCHG Partners in Mediscne Communicatie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::111b8ac05355a7d9a12c87f210bfc990
https://pure.eur.nl/en/publications/a56f21e1-e823-422a-af31-9035b472612d
https://pure.eur.nl/en/publications/a56f21e1-e823-422a-af31-9035b472612d
Publikováno v:
Journal of Investigative Dermatology, 121(5), 1035-1038. ELSEVIER SCIENCE INC
We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::ae35aa5ba269bda84879e0ea7d29c327
https://research.rug.nl/en/publications/ca36fa51-b692-4fea-bc67-5cdfb636200c
https://research.rug.nl/en/publications/ca36fa51-b692-4fea-bc67-5cdfb636200c
Publikováno v:
Journal of Investigative Dermatology, 119(6), 1275-1281. ELSEVIER SCIENCE INC
Integrin alpha6beta4 is a hemidesmosomal transmembrane molecule involved in maintaining basal cell-matrix adhesion through interaction of the large intracytoplasmic tail of the beta4 subunit with the keratin intermediate filament network, at least in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::671d9590aaa33ca2fe73c673200711e1
https://research.rug.nl/en/publications/1c264c93-d49e-4a69-8f9b-b1b7f6cc1a77
https://research.rug.nl/en/publications/1c264c93-d49e-4a69-8f9b-b1b7f6cc1a77
Publikováno v:
Annals of Pharmacotherapy, 36(6), 1108-1109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::1259f0147f83e23eb2b9d2901418e6da
https://research.rug.nl/en/publications/63d152b5-6cf0-46b1-8fb8-54552c825da1
https://research.rug.nl/en/publications/63d152b5-6cf0-46b1-8fb8-54552c825da1
Autor:
Leverkus, M, Bhol, K, Hirako, Y, Pas, H, Sitaru, C, Baier, G, Brocker, EB, Jonkman, MF, Ahmed, AR, Zillikens, D
Publikováno v:
BRITISH JOURNAL OF DERMATOLOGY, 145(6), 998-1004. Wiley
Cicatricial pemphigoid is a heterogeneous group of autoimmune subepidermal blistering diseases associated most commonly with autoantibodies to bullous pemphigoid (BP)180 and less frequently with those to laminin 5 or type VII collagen. In addition. a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::d0f25d94bb0d73908f7247ca440bc9a6
https://research.rug.nl/en/publications/b10e315f-7ed9-42ed-8805-3055a555caae
https://research.rug.nl/en/publications/b10e315f-7ed9-42ed-8805-3055a555caae
Autor:
Fine, JD, Eady, RAJ, Bauer, EA, Briggaman, RA, Bruckner-Tuderman, L, Christiano, A, Heagerty, A, Hintner, H, Jonkman, MF, McGrath, J, McGuire, J, Moshell, A, Shimizu, H, Tadini, G, Uitto, J
Publikováno v:
Journal of the American Academy of Dermatology, 42(6), 1051-1066. MOSBY-ELSEVIER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::e6ee44077e25cac37f4c4243bda8c108
https://research.rug.nl/en/publications/93925401-6244-4d25-a12d-35f7925f0689
https://research.rug.nl/en/publications/93925401-6244-4d25-a12d-35f7925f0689
Autor:
Molnar, K, van der Steege, G, Jonkman, MF, Nijenhuis, Albertine, Husz, S, van der Meer, JB, Pas, HH
Publikováno v:
Clinical and Experimental Dermatology, 25(1), 71-76. Wiley-Blackwell
We have analysed BP180 mRNA expression in normal human keratinocytes. Here we report the presence in normal keratinocytes of two COL17A1 transcripts which differ by 0.6 kb in length. Both mRNAs hybridized on Northern blot with probes directed to sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::e681f24415a79f1c5ba217b91668a53b
https://research.rug.nl/en/publications/5b767125-2092-4ab1-85a1-1218655fdcd1
https://research.rug.nl/en/publications/5b767125-2092-4ab1-85a1-1218655fdcd1
Publikováno v:
American Journal of Medical Genetics, 86(4), 376-379. WILEY-LISS
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare dermatologic disorder of autosomal dominant inheritance with intraepidermal blistering after minor trauma, reticular hyperpigmentation unrelated to the blistering, nail dystro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::1a97b79feca7709f53278d499c4b3a6d
https://research.rug.nl/en/publications/379c979a-5ed9-45ff-b8ba-21c1b86786ac
https://research.rug.nl/en/publications/379c979a-5ed9-45ff-b8ba-21c1b86786ac
Publikováno v:
Journal of Investigative Dermatology, 111(6), 1210-1213. ELSEVIER SCIENCE INC
The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen gene (COL7A1). In dominant DEB, a characteristic genetic lesion is a glycine substitution mutation within the collagenous domain of the protein. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::cc49a9a5c6dad41527cb2d9b73a4e164
https://research.rug.nl/en/publications/a9376386-3234-4794-b3fc-372ab820be46
https://research.rug.nl/en/publications/a9376386-3234-4794-b3fc-372ab820be46