Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity
Epidermal integrity is essential for skin functions. It is maintained by adhesive structures between keratinocytes, mainly the desmosomes and adherens junctions, which provide resistance against mechanical stress and regulate the formation of the skin barrier. As a constituent of both types of inter...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
14 February 2011
|
| In: |
Human molecular genetics
Year: 2011, Jahrgang: 20, Heft: 9, Pages: 1811-1819 |
| ISSN: | 1460-2083 |
| DOI: | 10.1093/hmg/ddr064 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/hmg/ddr064
|
| Verfasserangaben: | Manuela Pigors, Dimitra Kiritsi, Sebastian Krümpelmann, Nicola Wagner, Yinghong He, Maurizio Podda, Jürgen Kohlhase, Ingrid Hausser, Leena Bruckner-Tuderman and Cristina Has |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1827038594 | ||
| 003 | DE-627 | ||
| 005 | 20230710095734.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 221214s2011 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1093/hmg/ddr064 |2 doi | |
| 035 | |a (DE-627)1827038594 | ||
| 035 | |a (DE-599)KXP1827038594 | ||
| 035 | |a (OCoLC)1389739251 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Pigors, Manuela |d 1984- |e VerfasserIn |0 (DE-588)1029149720 |0 (DE-627)732525977 |0 (DE-576)376598395 |4 aut | |
| 245 | 1 | 0 | |a Lack of plakoglobin leads to lethal congenital epidermolysis bullosa |b a novel clinico-genetic entity |c Manuela Pigors, Dimitra Kiritsi, Sebastian Krümpelmann, Nicola Wagner, Yinghong He, Maurizio Podda, Jürgen Kohlhase, Ingrid Hausser, Leena Bruckner-Tuderman and Cristina Has |
| 264 | 1 | |c 14 February 2011 | |
| 300 | |a 9 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 14.12.2022 | ||
| 520 | |a Epidermal integrity is essential for skin functions. It is maintained by adhesive structures between keratinocytes, mainly the desmosomes and adherens junctions, which provide resistance against mechanical stress and regulate the formation of the skin barrier. As a constituent of both types of intercellular junctions, plakoglobin has multiple interaction partners and mutations in its gene [junction plakoglobin (JUP)] have been associated with mild cutaneous disease, palmoplantar keratoderma and arrhythmogenic heart disease. Here we report a novel lethal phenotype caused by a homozygous nonsense JUP mutation, c.1615C>T, p.Q539X, which is very different from any human or murine JUP phenotype described so far. The patient suffered from severe congenital skin fragility with generalized epidermolysis and massive transcutaneous fluid loss, but apparently no cardiac dysfunction. In contrast to previously reported JUP mutations where truncated proteins were still present, in this case there was complete loss of plakoglobin in the patient's skin, as demonstrated by immunofluorescence and immunoblot analysis. As a consequence, only very few abnormal desmosomes were formed and no adhesion structures between keratinocytes were recognizable. The expression and distribution of desmosomal components was severely affected, suggesting an essential role for plakoglobin in desmosomal assembly. Adherens junction proteins were localized to keratinocyte plasma membrane, but did not provide proper cell-cell adhesion. This lethal congenital epidermolysis bullosa highlights the fundamental role of plakoglobin in epidermal cohesion. | ||
| 650 | 4 | |a Animals | |
| 650 | 4 | |a Base Sequence | |
| 650 | 4 | |a Codon, Nonsense | |
| 650 | 4 | |a Epidermolysis Bullosa | |
| 650 | 4 | |a Fatal Outcome | |
| 650 | 4 | |a Female | |
| 650 | 4 | |a gamma Catenin | |
| 650 | 4 | |a Humans | |
| 650 | 4 | |a Infant, Newborn | |
| 650 | 4 | |a Mice | |
| 650 | 4 | |a Molecular Sequence Data | |
| 650 | 4 | |a Skin | |
| 700 | 1 | |a Kiritsi, Dimitra |e VerfasserIn |4 aut | |
| 700 | 1 | |a Krümpelmann, Sebastian |e VerfasserIn |4 aut | |
| 700 | 1 | |a Wagner, Nicola |e VerfasserIn |4 aut | |
| 700 | 1 | |a He, Yinghong |e VerfasserIn |4 aut | |
| 700 | 1 | |a Podda, Maurizio |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kohlhase, Jürgen |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 Bruckner-Tuderman, Leena |e VerfasserIn |4 aut | |
| 700 | 1 | |a Has, Cristina |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Human molecular genetics |d Oxford : Oxford Univ. Press, 1992 |g 20(2011), 9, Seite 1811-1819 |h Online-Ressource |w (DE-627)269532722 |w (DE-600)1474816-2 |w (DE-576)082435243 |x 1460-2083 |7 nnas |a Lack of plakoglobin leads to lethal congenital epidermolysis bullosa a novel clinico-genetic entity |
| 773 | 1 | 8 | |g volume:20 |g year:2011 |g number:9 |g pages:1811-1819 |g extent:9 |a Lack of plakoglobin leads to lethal congenital epidermolysis bullosa a novel clinico-genetic entity |
| 856 | 4 | 0 | |u https://doi.org/10.1093/hmg/ddr064 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20221214 | ||
| 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 8 | ||
| 999 | |a KXP-PPN1827038594 |e 4231058725 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedDisp":"14 February 2011","dateIssuedKey":"2011"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"person":[{"role":"aut","roleDisplay":"VerfasserIn","given":"Manuela","display":"Pigors, Manuela","family":"Pigors"},{"family":"Kiritsi","display":"Kiritsi, Dimitra","roleDisplay":"VerfasserIn","given":"Dimitra","role":"aut"},{"roleDisplay":"VerfasserIn","given":"Sebastian","role":"aut","display":"Krümpelmann, Sebastian","family":"Krümpelmann"},{"display":"Wagner, Nicola","family":"Wagner","given":"Nicola","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","given":"Yinghong","role":"aut","display":"He, Yinghong","family":"He"},{"roleDisplay":"VerfasserIn","given":"Maurizio","role":"aut","display":"Podda, Maurizio","family":"Podda"},{"display":"Kohlhase, Jürgen","family":"Kohlhase","given":"Jürgen","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Ingrid","roleDisplay":"VerfasserIn","role":"aut","display":"Haußer-Siller, Ingrid","family":"Haußer-Siller"},{"given":"Leena","roleDisplay":"VerfasserIn","role":"aut","display":"Bruckner-Tuderman, Leena","family":"Bruckner-Tuderman"},{"display":"Has, Cristina","family":"Has","given":"Cristina","roleDisplay":"VerfasserIn","role":"aut"}],"physDesc":[{"extent":"9 S."}],"title":[{"subtitle":"a novel clinico-genetic entity","title":"Lack of plakoglobin leads to lethal congenital epidermolysis bullosa","title_sort":"Lack of plakoglobin leads to lethal congenital epidermolysis bullosa"}],"id":{"eki":["1827038594"],"doi":["10.1093/hmg/ddr064"]},"note":["Gesehen am 14.12.2022"],"language":["eng"],"recId":"1827038594","name":{"displayForm":["Manuela Pigors, Dimitra Kiritsi, Sebastian Krümpelmann, Nicola Wagner, Yinghong He, Maurizio Podda, Jürgen Kohlhase, Ingrid Hausser, Leena Bruckner-Tuderman and Cristina Has"]},"relHost":[{"type":{"media":"Online-Ressource","bibl":"periodical"},"disp":"Lack of plakoglobin leads to lethal congenital epidermolysis bullosa a novel clinico-genetic entityHuman molecular genetics","physDesc":[{"extent":"Online-Ressource"}],"note":["Gesehen am 01.12.2020"],"id":{"zdb":["1474816-2"],"eki":["269532722"],"issn":["1460-2083"]},"recId":"269532722","origin":[{"publisherPlace":"Oxford","dateIssuedKey":"1992","dateIssuedDisp":"1992-","publisher":"Oxford Univ. Press"}],"titleAlt":[{"title":"HMG online"}],"pubHistory":["1.1992 -"],"title":[{"title_sort":"Human molecular genetics","title":"Human molecular genetics","subtitle":"HMG online"}],"part":{"volume":"20","year":"2011","extent":"9","issue":"9","pages":"1811-1819","text":"20(2011), 9, Seite 1811-1819"},"language":["eng"]}]} | ||
| SRT | |a PIGORSMANULACKOFPLAK1420 | ||