Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy
Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependen...
Gespeichert in:
| Weitere Verfasser: | , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
11 June 2015
|
| In: |
The American journal of human genetics
Year: 2015, Jahrgang: 97, Heft: 1, Pages: 163-169 |
| ISSN: | 1537-6605 |
| DOI: | 10.1016/j.ajhg.2015.05.009 |
| Online-Zugang: | Resolving-System, kostenfrei, Volltext: http://dx.doi.org/10.1016/j.ajhg.2015.05.009
|
| Verfasserangaben: | Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, and Holger Prokisch |
MARC
| LEADER | 00000caa a22000002c 4500 | ||
|---|---|---|---|
| 001 | 1504856783 | ||
| 003 | DE-627 | ||
| 005 | 20220812013128.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 150703s2015 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ajhg.2015.05.009 |2 doi | |
| 035 | |a (DE-627)1504856783 | ||
| 035 | |a (DE-576)434856789 | ||
| 035 | |a (DE-599)BSZ434856789 | ||
| 035 | |a (OCoLC)1340701147 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 245 | 0 | 0 | |a Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy |c Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, and Holger Prokisch |
| 264 | 1 | |c 11 June 2015 | |
| 300 | |a 7 | ||
| 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 17.02.2021 | ||
| 520 | |a Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in NBAS. Subsequent Sanger sequencing of NBAS in 15 additional unrelated individuals with RALF or ALF identified compound heterozygous mutations in an additional six individuals from five families. Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi. We recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever. | ||
| 700 | 1 | |a Haack, Tobias |d 1982- |0 (DE-588)136888232 |0 (DE-627)588323896 |0 (DE-576)301330883 |4 oth | |
| 700 | 1 | |a Kotzaeridou, Urania |0 (DE-588)1070020834 |0 (DE-627)823189996 |0 (DE-576)429699948 |4 oth | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 oth | |
| 700 | 1 | |a Staufner, Christian |d 1980- |0 (DE-588)141097515 |0 (DE-627)703880950 |0 (DE-576)321299469 |4 oth | |
| 700 | 1 | |a Straub, Beate Katharina |d 1977- |0 (DE-588)129889377 |0 (DE-627)483342122 |0 (DE-576)188827315 |4 oth | |
| 700 | 1 | |a Kölker, Stefan |0 (DE-588)1022937758 |0 (DE-627)717335771 |0 (DE-576)366197568 |4 oth | |
| 700 | 1 | |a Thiel, Christian |d 1972- |0 (DE-588)124888127 |0 (DE-627)367435276 |0 (DE-576)293543151 |4 oth | |
| 700 | 1 | |a Dikow, Nicola |0 (DE-588)1073294196 |0 (DE-627)82881726X |0 (DE-576)434859397 |4 oth | |
| 700 | 1 | |a Harting, Inga |d 1971- |0 (DE-588)12071342X |0 (DE-627)704941872 |0 (DE-576)292352840 |4 oth | |
| 700 | 1 | |a Beisse, Flemming |d 1970- |0 (DE-588)120850052 |0 (DE-627)705037576 |0 (DE-576)180187163 |4 oth | |
| 700 | 1 | |a Burgard, Peter |0 (DE-588)1050864808 |0 (DE-627)785218416 |0 (DE-576)160485630 |4 oth | |
| 773 | 0 | 8 | |i In |t The American journal of human genetics |d New York, NY [u.a.] : Cell Press, 1949 |g 97(2015), 1, Seite 163-169 |w (DE-627)269019014 |w (DE-600)1473813-2 |w (DE-576)077662636 |x 1537-6605 |7 nnas |a Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy |
| 773 | 1 | 8 | |g volume:97 |g year:2015 |g number:1 |g pages:163-169 |g extent:7 |a Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.ajhg.2015.05.009 |x Resolving-System |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20150703 | ||
| 993 | |a Article | ||
| 994 | |a 2015 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 31 | ||
| 998 | |g 1070020834 |a Kotzaeridou, Urania |m 1070020834:Kotzaeridou, Urania |d 910000 |d 910500 |e 910000PK1070020834 |e 910500PK1070020834 |k 0/910000/ |k 1/910000/910500/ |p 14 | ||
| 998 | |g 1050864808 |a Burgard, Peter |m 1050864808:Burgard, Peter |d 910000 |d 910500 |d 50000 |e 910000PB1050864808 |e 910500PB1050864808 |e 50000PB1050864808 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 13 | ||
| 998 | |g 120850052 |a Beisse, Flemming |m 120850052:Beisse, Flemming |d 910000 |d 910900 |e 910000PB120850052 |e 910900PB120850052 |k 0/910000/ |k 1/910000/910900/ |p 12 | ||
| 998 | |g 12071342X |a Harting, Inga |m 12071342X:Harting, Inga |d 910000 |d 911100 |d 50000 |e 910000PH12071342X |e 911100PH12071342X |e 50000PH12071342X |k 0/910000/ |k 1/910000/911100/ |k 0/50000/ |p 11 | ||
| 998 | |g 1073294196 |a Dikow, Nicola |m 1073294196:Dikow, Nicola |d 910000 |d 911500 |e 910000PD1073294196 |e 911500PD1073294196 |k 0/910000/ |k 1/910000/911500/ |p 10 | ||
| 998 | |g 124888127 |a Thiel, Christian |m 124888127:Thiel, Christian |d 910000 |d 910500 |d 50000 |e 910000PT124888127 |e 910500PT124888127 |e 50000PT124888127 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 6 | ||
| 998 | |g 1022937758 |a Kölker, Stefan |m 1022937758:Kölker, Stefan |d 910000 |d 910500 |d 50000 |e 910000PK1022937758 |e 910500PK1022937758 |e 50000PK1022937758 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 5 | ||
| 998 | |g 129889377 |a Straub, Beate Katharina |m 129889377:Straub, Beate Katharina |d 910000 |d 912000 |e 910000PS129889377 |e 912000PS129889377 |k 0/910000/ |k 1/910000/912000/ |p 4 | ||
| 998 | |g 141097515 |a Staufner, Christian |m 141097515:Staufner, Christian |d 910000 |d 910500 |e 910000PS141097515 |e 910500PS141097515 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 999 | |a KXP-PPN1504856783 |e 2847644806 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedKey":"2015","dateIssuedDisp":"11 June 2015"}],"id":{"eki":["1504856783"],"doi":["10.1016/j.ajhg.2015.05.009"]},"relHost":[{"disp":"Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancyThe American journal of human genetics","type":{"media":"Online-Ressource","bibl":"periodical"},"note":["Gesehen am 28.05.2020"],"corporate":[{"roleDisplay":"Herausgebendes Organ","role":"isb","display":"American Society of Human Genetics"}],"recId":"269019014","language":["eng"],"pubHistory":["1.1949 -"],"name":{"displayForm":["American Society of Human Genetics"]},"title":[{"title_sort":"American journal of human genetics","title":"The American journal of human genetics"}],"origin":[{"dateIssuedDisp":"1949-","dateIssuedKey":"1949","publisher":"Cell Press ; Elsevier ; Univ. of Chicago Press","publisherPlace":"New York, NY [u.a.] ; New York, NY ; Chicago, Ill."}],"part":{"extent":"7","year":"2015","issue":"1","text":"97(2015), 1, Seite 163-169","pages":"163-169","volume":"97"},"id":{"zdb":["1473813-2"],"issn":["1537-6605"],"eki":["269019014"]}}],"language":["eng"],"recId":"1504856783","physDesc":[{"extent":"7 S."}],"person":[{"role":"oth","display":"Haack, Tobias","given":"Tobias","family":"Haack"},{"given":"Urania","family":"Kotzaeridou","display":"Kotzaeridou, Urania","role":"oth"},{"given":"Georg F.","family":"Hoffmann","display":"Hoffmann, Georg F.","role":"oth"},{"family":"Staufner","given":"Christian","display":"Staufner, Christian","role":"oth"},{"family":"Straub","given":"Beate Katharina","role":"oth","display":"Straub, Beate Katharina"},{"display":"Kölker, Stefan","role":"oth","family":"Kölker","given":"Stefan"},{"given":"Christian","family":"Thiel","role":"oth","display":"Thiel, Christian"},{"role":"oth","display":"Dikow, Nicola","family":"Dikow","given":"Nicola"},{"family":"Harting","given":"Inga","role":"oth","display":"Harting, Inga"},{"display":"Beisse, Flemming","role":"oth","family":"Beisse","given":"Flemming"},{"role":"oth","display":"Burgard, Peter","family":"Burgard","given":"Peter"}],"note":["Gesehen am 17.02.2021"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"title":[{"title":"Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy","title_sort":"Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy"}],"name":{"displayForm":["Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, and Holger Prokisch"]}} | ||
| SRT | |a BIALLELICM1120 | ||