Loading…
Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis
Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was dimi...
Saved in:
| Published in: | Science (American Association for the Advancement of Science) 1995-01, Vol.267 (5197), p.525-528 |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c713t-6a6765b3425233ced029bfd7a87d9665bafdd5236705587ecc85d2cd539c6b3b3 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c713t-6a6765b3425233ced029bfd7a87d9665bafdd5236705587ecc85d2cd539c6b3b3 |
| container_end_page | 528 |
| container_issue | 5197 |
| container_start_page | 525 |
| container_title | Science (American Association for the Advancement of Science) |
| container_volume | 267 |
| creator | Huber, Marcel Rettler, Irmingard Bernasconi, Katja Frenk, Edgar Sjan P. M. Lavrijsen Ponec, Maria Bon, Aita Lautenschlager, Stefan Schorderet, Daniel F. Hohl, Daniel |
| description | Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis. |
| doi_str_mv | 10.1126/science.7824952 |
| format | article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_77128862</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A16596833</galeid><jstor_id>2886206</jstor_id><sourcerecordid>A16596833</sourcerecordid><originalsourceid>FETCH-LOGICAL-c713t-6a6765b3425233ced029bfd7a87d9665bafdd5236705587ecc85d2cd539c6b3b3</originalsourceid><addsrcrecordid>eNqN0s2LEzEYB-AgylpXz14U5iDiYWc3H83HHGvRWqz24Oo1ZDKZ2SwzyW6Sgv3vTe1QKRQsOYTk9ySEvC8ArxG8Rgizm6itcdpcc4GnFcVPwATBipYVhuQpmEBIWCkgp8_BixjvIcxZRS7AxcgnYPZtk1Sy3sXCt8VXE_LCeb1NprgNysWuz_lgnYqmsK5YqcH0vQrFUt-lu62PNr4Ez1rVR_NqnC_Bz8-fbudfytV6sZzPVqXmiKSSKcYZrckUU0yINg3EVd02XAneVCwnqm2aHDEOKRXcaC1og3VDSaVZTWpyCd7v730I_nFjYpKDjXr3Gmf8JkrOERaC4f9CxBhkiJMMr_awU72R1rU-BaU74_Iv9N6Z1ubtGWK0YoLseHmC59GYwepT_sORzySZ36lTmxjl8sf3s-n619n04-JcKharI3p1imrf96YzMhdyvj7iN3uug48xmFY-BDuosJUIyl1fyrEv5dho-cTbsSibejDNwf_L3425ilr1be49beOBkSmlUNDM3uzZfUw-HOK_hYeM_AGwRPC8</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>16606173</pqid></control><display><type>article</type><title>Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis</title><source>Education Collection (Proquest) (PQ_SDU_P3)</source><source>Science Online_科学在线</source><source>Social Science Premium Collection (Proquest) (PQ_SDU_P3)</source><creator>Huber, Marcel ; Rettler, Irmingard ; Bernasconi, Katja ; Frenk, Edgar ; Sjan P. M. Lavrijsen ; Ponec, Maria ; Bon, Aita ; Lautenschlager, Stefan ; Schorderet, Daniel F. ; Hohl, Daniel</creator><creatorcontrib>Huber, Marcel ; Rettler, Irmingard ; Bernasconi, Katja ; Frenk, Edgar ; Sjan P. M. Lavrijsen ; Ponec, Maria ; Bon, Aita ; Lautenschlager, Stefan ; Schorderet, Daniel F. ; Hohl, Daniel</creatorcontrib><description>Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.7824952</identifier><identifier>PMID: 7824952</identifier><identifier>CODEN: SCIEAS</identifier><language>eng</language><publisher>Washington, DC: American Society for the Advancement of Science</publisher><subject>Alleles ; Base Sequence ; Biological and medical sciences ; Cell Membrane - metabolism ; Cells, Cultured ; Codon ; Complementary DNA ; Dermatology ; DNA ; DNA probes ; Exons ; Female ; Gene Deletion ; gene expression ; Genetic aspects ; Genetic Linkage ; Genetic mutation ; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue ; Heterozygote ; Homozygote ; Humans ; Ichthyosis ; Ichthyosis, Lamellar - enzymology ; Ichthyosis, Lamellar - genetics ; Introns ; Keratinocytes ; Keratinocytes - enzymology ; Keratinocytes - ultrastructure ; Keratosis ; Lamellar ichthyosis ; Male ; man ; Medical sciences ; Membrane Proteins - metabolism ; Molecular Sequence Data ; Mutation ; Pedigree ; Physiological aspects ; Point Mutation ; Polymerase chain reaction ; Protein Precursors - metabolism ; skin diseases ; transglutaminase ; Transglutaminases - genetics ; Transglutaminases - metabolism</subject><ispartof>Science (American Association for the Advancement of Science), 1995-01, Vol.267 (5197), p.525-528</ispartof><rights>Copyright 1995 American Association for the Advancement of Science</rights><rights>1995 INIST-CNRS</rights><rights>COPYRIGHT 1995 American Association for the Advancement of Science</rights><rights>COPYRIGHT 1995 American Association for the Advancement of Science</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c713t-6a6765b3425233ced029bfd7a87d9665bafdd5236705587ecc85d2cd539c6b3b3</citedby><cites>FETCH-LOGICAL-c713t-6a6765b3425233ced029bfd7a87d9665bafdd5236705587ecc85d2cd539c6b3b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,2884,2885,27924,27925,33612,33878</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3455085$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7824952$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Huber, Marcel</creatorcontrib><creatorcontrib>Rettler, Irmingard</creatorcontrib><creatorcontrib>Bernasconi, Katja</creatorcontrib><creatorcontrib>Frenk, Edgar</creatorcontrib><creatorcontrib>Sjan P. M. Lavrijsen</creatorcontrib><creatorcontrib>Ponec, Maria</creatorcontrib><creatorcontrib>Bon, Aita</creatorcontrib><creatorcontrib>Lautenschlager, Stefan</creatorcontrib><creatorcontrib>Schorderet, Daniel F.</creatorcontrib><creatorcontrib>Hohl, Daniel</creatorcontrib><title>Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis</title><title>Science (American Association for the Advancement of Science)</title><addtitle>Science</addtitle><description>Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.</description><subject>Alleles</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Cell Membrane - metabolism</subject><subject>Cells, Cultured</subject><subject>Codon</subject><subject>Complementary DNA</subject><subject>Dermatology</subject><subject>DNA</subject><subject>DNA probes</subject><subject>Exons</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>gene expression</subject><subject>Genetic aspects</subject><subject>Genetic Linkage</subject><subject>Genetic mutation</subject><subject>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Ichthyosis</subject><subject>Ichthyosis, Lamellar - enzymology</subject><subject>Ichthyosis, Lamellar - genetics</subject><subject>Introns</subject><subject>Keratinocytes</subject><subject>Keratinocytes - enzymology</subject><subject>Keratinocytes - ultrastructure</subject><subject>Keratosis</subject><subject>Lamellar ichthyosis</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Membrane Proteins - metabolism</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Physiological aspects</subject><subject>Point Mutation</subject><subject>Polymerase chain reaction</subject><subject>Protein Precursors - metabolism</subject><subject>skin diseases</subject><subject>transglutaminase</subject><subject>Transglutaminases - genetics</subject><subject>Transglutaminases - metabolism</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><recordid>eNqN0s2LEzEYB-AgylpXz14U5iDiYWc3H83HHGvRWqz24Oo1ZDKZ2SwzyW6Sgv3vTe1QKRQsOYTk9ySEvC8ArxG8Rgizm6itcdpcc4GnFcVPwATBipYVhuQpmEBIWCkgp8_BixjvIcxZRS7AxcgnYPZtk1Sy3sXCt8VXE_LCeb1NprgNysWuz_lgnYqmsK5YqcH0vQrFUt-lu62PNr4Ez1rVR_NqnC_Bz8-fbudfytV6sZzPVqXmiKSSKcYZrckUU0yINg3EVd02XAneVCwnqm2aHDEOKRXcaC1og3VDSaVZTWpyCd7v730I_nFjYpKDjXr3Gmf8JkrOERaC4f9CxBhkiJMMr_awU72R1rU-BaU74_Iv9N6Z1ubtGWK0YoLseHmC59GYwepT_sORzySZ36lTmxjl8sf3s-n619n04-JcKharI3p1imrf96YzMhdyvj7iN3uug48xmFY-BDuosJUIyl1fyrEv5dho-cTbsSibejDNwf_L3425ilr1be49beOBkSmlUNDM3uzZfUw-HOK_hYeM_AGwRPC8</recordid><startdate>19950127</startdate><enddate>19950127</enddate><creator>Huber, Marcel</creator><creator>Rettler, Irmingard</creator><creator>Bernasconi, Katja</creator><creator>Frenk, Edgar</creator><creator>Sjan P. M. Lavrijsen</creator><creator>Ponec, Maria</creator><creator>Bon, Aita</creator><creator>Lautenschlager, Stefan</creator><creator>Schorderet, Daniel F.</creator><creator>Hohl, Daniel</creator><general>American Society for the Advancement of Science</general><general>American Association for the Advancement of Science</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8GL</scope><scope>IBG</scope><scope>IOV</scope><scope>ISN</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19950127</creationdate><title>Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis</title><author>Huber, Marcel ; Rettler, Irmingard ; Bernasconi, Katja ; Frenk, Edgar ; Sjan P. M. Lavrijsen ; Ponec, Maria ; Bon, Aita ; Lautenschlager, Stefan ; Schorderet, Daniel F. ; Hohl, Daniel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c713t-6a6765b3425233ced029bfd7a87d9665bafdd5236705587ecc85d2cd539c6b3b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Alleles</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Cell Membrane - metabolism</topic><topic>Cells, Cultured</topic><topic>Codon</topic><topic>Complementary DNA</topic><topic>Dermatology</topic><topic>DNA</topic><topic>DNA probes</topic><topic>Exons</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>gene expression</topic><topic>Genetic aspects</topic><topic>Genetic Linkage</topic><topic>Genetic mutation</topic><topic>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</topic><topic>Heterozygote</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Ichthyosis</topic><topic>Ichthyosis, Lamellar - enzymology</topic><topic>Ichthyosis, Lamellar - genetics</topic><topic>Introns</topic><topic>Keratinocytes</topic><topic>Keratinocytes - enzymology</topic><topic>Keratinocytes - ultrastructure</topic><topic>Keratosis</topic><topic>Lamellar ichthyosis</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>Membrane Proteins - metabolism</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Physiological aspects</topic><topic>Point Mutation</topic><topic>Polymerase chain reaction</topic><topic>Protein Precursors - metabolism</topic><topic>skin diseases</topic><topic>transglutaminase</topic><topic>Transglutaminases - genetics</topic><topic>Transglutaminases - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Huber, Marcel</creatorcontrib><creatorcontrib>Rettler, Irmingard</creatorcontrib><creatorcontrib>Bernasconi, Katja</creatorcontrib><creatorcontrib>Frenk, Edgar</creatorcontrib><creatorcontrib>Sjan P. M. Lavrijsen</creatorcontrib><creatorcontrib>Ponec, Maria</creatorcontrib><creatorcontrib>Bon, Aita</creatorcontrib><creatorcontrib>Lautenschlager, Stefan</creatorcontrib><creatorcontrib>Schorderet, Daniel F.</creatorcontrib><creatorcontrib>Hohl, Daniel</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: High School</collection><collection>Biography (Gale in Context)</collection><collection>Gale_Opposing Viewpoints In Context</collection><collection>Gale In Context: Canada</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Science (American Association for the Advancement of Science)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Huber, Marcel</au><au>Rettler, Irmingard</au><au>Bernasconi, Katja</au><au>Frenk, Edgar</au><au>Sjan P. M. Lavrijsen</au><au>Ponec, Maria</au><au>Bon, Aita</au><au>Lautenschlager, Stefan</au><au>Schorderet, Daniel F.</au><au>Hohl, Daniel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis</atitle><jtitle>Science (American Association for the Advancement of Science)</jtitle><addtitle>Science</addtitle><date>1995-01-27</date><risdate>1995</risdate><volume>267</volume><issue>5197</issue><spage>525</spage><epage>528</epage><pages>525-528</pages><issn>0036-8075</issn><eissn>1095-9203</eissn><coden>SCIEAS</coden><abstract>Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.</abstract><cop>Washington, DC</cop><pub>American Society for the Advancement of Science</pub><pmid>7824952</pmid><doi>10.1126/science.7824952</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science (American Association for the Advancement of Science), 1995-01, Vol.267 (5197), p.525-528 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_77128862 |
| source | Education Collection (Proquest) (PQ_SDU_P3); Science Online_科学在线; Social Science Premium Collection (Proquest) (PQ_SDU_P3) |
| subjects | Alleles Base Sequence Biological and medical sciences Cell Membrane - metabolism Cells, Cultured Codon Complementary DNA Dermatology DNA DNA probes Exons Female Gene Deletion gene expression Genetic aspects Genetic Linkage Genetic mutation Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Heterozygote Homozygote Humans Ichthyosis Ichthyosis, Lamellar - enzymology Ichthyosis, Lamellar - genetics Introns Keratinocytes Keratinocytes - enzymology Keratinocytes - ultrastructure Keratosis Lamellar ichthyosis Male man Medical sciences Membrane Proteins - metabolism Molecular Sequence Data Mutation Pedigree Physiological aspects Point Mutation Polymerase chain reaction Protein Precursors - metabolism skin diseases transglutaminase Transglutaminases - genetics Transglutaminases - metabolism |
| title | Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-05T11%3A01%3A36IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutations%20of%20Keratinocyte%20Transglutaminase%20in%20Lamellar%20Ichthyosis&rft.jtitle=Science%20(American%20Association%20for%20the%20Advancement%20of%20Science)&rft.au=Huber,%20Marcel&rft.date=1995-01-27&rft.volume=267&rft.issue=5197&rft.spage=525&rft.epage=528&rft.pages=525-528&rft.issn=0036-8075&rft.eissn=1095-9203&rft.coden=SCIEAS&rft_id=info:doi/10.1126/science.7824952&rft_dat=%3Cgale_proqu%3EA16596833%3C/gale_proqu%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c713t-6a6765b3425233ced029bfd7a87d9665bafdd5236705587ecc85d2cd539c6b3b3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=16606173&rft_id=info:pmid/7824952&rft_galeid=A16596833&rft_jstor_id=2886206&rfr_iscdi=true |