Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
Background Epidermolytic ichthyosis (EI) is a hereditary keratinization disorder caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes. In most cases of severe EI, heterozygous single point mutations are found at the highly conserved helix boundary motifs of KRT1 and KRT10 that pla...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
2011
|
| In: |
British journal of dermatology
Year: 2011, Volume: 164, Issue: 2, Pages: 442-447 |
| ISSN: | 1365-2133 |
| DOI: | 10.1111/j.1365-2133.2010.10096.x |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/j.1365-2133.2010.10096.x Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2133.2010.10096.x 
|
| Author Notes: | M.j. Arin, V. Oji, S. Emmert, I. Hausser, H. Traupe, T. Krieg and G. Grimberg |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1796048097 | ||
| 003 | DE-627 | ||
| 005 | 20230428030502.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 220318s2011 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1111/j.1365-2133.2010.10096.x |2 doi | |
| 035 | |a (DE-627)1796048097 | ||
| 035 | |a (DE-599)KXP1796048097 | ||
| 035 | |a (OCoLC)1341446226 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Arin, Meral Julia |d 1968- |e VerfasserIn |0 (DE-588)173955738 |0 (DE-627)698855531 |0 (DE-576)134793048 |4 aut | |
| 245 | 1 | 0 | |a Expanding the keratin mutation database |b novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis |c M.j. Arin, V. Oji, S. Emmert, I. Hausser, H. Traupe, T. Krieg and G. Grimberg |
| 264 | 1 | |c 2011 | |
| 300 | |a 6 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a First published: 26 October 2010 | ||
| 500 | |a Gesehen am 18.03.2022 | ||
| 520 | |a Background Epidermolytic ichthyosis (EI) is a hereditary keratinization disorder caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes. In most cases of severe EI, heterozygous single point mutations are found at the highly conserved helix boundary motifs of KRT1 and KRT10 that play a critical role in filament formation. The presence of palmoplantar keratoderma suggests KRT1 mutations, whereas KRT10 mutations in most instances give rise to the nonpalmoplantar variants. Objectives To identify the underlying mutations in patients with EI and to correlate genotype and phenotype. Methods Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes. Results We identified 14 different mutations, of which four have not been published previously. Conclusions Identification of novel mutations and genotype-phenotype correlations in EI allows improved understanding of disease pathogenesis as well as better patient management. | ||
| 700 | 1 | |a Oji, V. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Emmert, S. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Haußer-Siller, Ingrid |d 1957- |e VerfasserIn |0 (DE-588)1058096710 |0 (DE-627)796384703 |0 (DE-576)163782377 |4 aut | |
| 700 | 1 | |a Traupe, H. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Krieg, T. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Grimberg, G. |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t British journal of dermatology |d Oxford : Oxford University Press, 1951 |g 164(2011), 2, Seite 442-447 |h Online-Ressource |w (DE-627)320433803 |w (DE-600)2004086-6 |w (DE-576)091140285 |x 1365-2133 |7 nnas |a Expanding the keratin mutation database novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis |
| 773 | 1 | 8 | |g volume:164 |g year:2011 |g number:2 |g pages:442-447 |g extent:6 |a Expanding the keratin mutation database novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis |
| 856 | 4 | 0 | |u https://doi.org/10.1111/j.1365-2133.2010.10096.x |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2133.2010.10096.x |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20220318 | ||
| 993 | |a Article | ||
| 994 | |a 2011 | ||
| 998 | |g 1058096710 |a Haußer-Siller, Ingrid |m 1058096710:Haußer-Siller, Ingrid |d 910000 |d 912000 |e 910000PH1058096710 |e 912000PH1058096710 |k 0/910000/ |k 1/910000/912000/ |p 4 | ||
| 999 | |a KXP-PPN1796048097 |e 4095395036 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"type":{"media":"Online-Ressource","bibl":"article-journal"},"origin":[{"dateIssuedKey":"2011","dateIssuedDisp":"2011"}],"person":[{"role":"aut","given":"Meral Julia","roleDisplay":"VerfasserIn","display":"Arin, Meral Julia","family":"Arin"},{"role":"aut","given":"V.","roleDisplay":"VerfasserIn","family":"Oji","display":"Oji, V."},{"family":"Emmert","display":"Emmert, S.","role":"aut","roleDisplay":"VerfasserIn","given":"S."},{"family":"Haußer-Siller","display":"Haußer-Siller, Ingrid","given":"Ingrid","roleDisplay":"VerfasserIn","role":"aut"},{"display":"Traupe, H.","family":"Traupe","role":"aut","given":"H.","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","given":"T.","display":"Krieg, T.","family":"Krieg"},{"family":"Grimberg","display":"Grimberg, G.","given":"G.","roleDisplay":"VerfasserIn","role":"aut"}],"physDesc":[{"extent":"6 S."}],"title":[{"subtitle":"novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis","title":"Expanding the keratin mutation database","title_sort":"Expanding the keratin mutation database"}],"note":["First published: 26 October 2010","Gesehen am 18.03.2022"],"id":{"eki":["1796048097"],"doi":["10.1111/j.1365-2133.2010.10096.x"]},"relHost":[{"language":["eng"],"part":{"year":"2011","volume":"164","extent":"6","issue":"2","pages":"442-447","text":"164(2011), 2, Seite 442-447"},"title":[{"subtitle":"BJD ; the journal of the British Association of Dermatologists","title":"British journal of dermatology","title_sort":"British journal of dermatology"}],"titleAlt":[{"title":"BJD"}],"pubHistory":["Volume 63, issue 1 (January 1951)-"],"corporate":[{"role":"isb","roleDisplay":"Herausgebendes Organ","display":"British Association of Dermatologists"}],"origin":[{"dateIssuedDisp":"1951-","publisher":"Oxford University Press ; Blackwell Science ; Blackwell ; Wiley-Blackwell","publisherPlace":"Oxford ; Oxford [u.a.] ; Oxford [u.a.] ; Oxford","dateIssuedKey":"1951"}],"recId":"320433803","note":["Gesehen am 03.07.25"],"id":{"eki":["320433803"],"zdb":["2004086-6"],"issn":["1365-2133"],"doi":["10.1111/(ISSN)1365-2133"]},"physDesc":[{"extent":"Online-Ressource"}],"disp":"Expanding the keratin mutation database novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosisBritish journal of dermatology","type":{"bibl":"periodical","media":"Online-Ressource"}}],"name":{"displayForm":["M.j. Arin, V. Oji, S. Emmert, I. Hausser, H. Traupe, T. Krieg and G. Grimberg"]},"recId":"1796048097","language":["eng"]} | ||
| SRT | |a ARINMERALJEXPANDINGT2011 | ||