An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease

Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congeni...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Dias, Renuka P [verfasserIn] Maher, Eamonn R

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2012

Schlagwörter:	Proliferate Cell Nuclear Antigen Imprint Gene Adrenocortical Tumor Adrenal Hypoplasia Prenatal Growth

Anmerkung:	© BioMed Central Ltd 2012

Übergeordnetes Werk:	Enthalten in: Genome medicine - London : BioMed Central, 2009, 4(2012), 7 vom: 30. Juli
Übergeordnetes Werk:	volume:4 ; year:2012 ; number:7 ; day:30 ; month:07

Links:	Volltext

DOI / URN:	10.1186/gm361

Katalog-ID:	SPR030592453

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allfields	10.1186/gm361 doi (DE-627)SPR030592453 (SPR)gm361-e DE-627 ger DE-627 rakwb eng Dias, Renuka P verfasserin aut An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2012 Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth. Proliferate Cell Nuclear Antigen (dpeaa)DE-He213 Imprint Gene (dpeaa)DE-He213 Adrenocortical Tumor (dpeaa)DE-He213 Adrenal Hypoplasia (dpeaa)DE-He213 Prenatal Growth (dpeaa)DE-He213 Maher, Eamonn R aut Enthalten in Genome medicine London : BioMed Central, 2009 4(2012), 7 vom: 30. Juli (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:4 year:2012 number:7 day:30 month:07 https://dx.doi.org/10.1186/gm361 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2012 7 30 07
spelling	10.1186/gm361 doi (DE-627)SPR030592453 (SPR)gm361-e DE-627 ger DE-627 rakwb eng Dias, Renuka P verfasserin aut An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2012 Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth. Proliferate Cell Nuclear Antigen (dpeaa)DE-He213 Imprint Gene (dpeaa)DE-He213 Adrenocortical Tumor (dpeaa)DE-He213 Adrenal Hypoplasia (dpeaa)DE-He213 Prenatal Growth (dpeaa)DE-He213 Maher, Eamonn R aut Enthalten in Genome medicine London : BioMed Central, 2009 4(2012), 7 vom: 30. Juli (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:4 year:2012 number:7 day:30 month:07 https://dx.doi.org/10.1186/gm361 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2012 7 30 07
allfields_unstemmed	10.1186/gm361 doi (DE-627)SPR030592453 (SPR)gm361-e DE-627 ger DE-627 rakwb eng Dias, Renuka P verfasserin aut An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2012 Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth. Proliferate Cell Nuclear Antigen (dpeaa)DE-He213 Imprint Gene (dpeaa)DE-He213 Adrenocortical Tumor (dpeaa)DE-He213 Adrenal Hypoplasia (dpeaa)DE-He213 Prenatal Growth (dpeaa)DE-He213 Maher, Eamonn R aut Enthalten in Genome medicine London : BioMed Central, 2009 4(2012), 7 vom: 30. Juli (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:4 year:2012 number:7 day:30 month:07 https://dx.doi.org/10.1186/gm361 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2012 7 30 07
allfieldsGer	10.1186/gm361 doi (DE-627)SPR030592453 (SPR)gm361-e DE-627 ger DE-627 rakwb eng Dias, Renuka P verfasserin aut An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2012 Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth. Proliferate Cell Nuclear Antigen (dpeaa)DE-He213 Imprint Gene (dpeaa)DE-He213 Adrenocortical Tumor (dpeaa)DE-He213 Adrenal Hypoplasia (dpeaa)DE-He213 Prenatal Growth (dpeaa)DE-He213 Maher, Eamonn R aut Enthalten in Genome medicine London : BioMed Central, 2009 4(2012), 7 vom: 30. Juli (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:4 year:2012 number:7 day:30 month:07 https://dx.doi.org/10.1186/gm361 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2012 7 30 07
allfieldsSound	10.1186/gm361 doi (DE-627)SPR030592453 (SPR)gm361-e DE-627 ger DE-627 rakwb eng Dias, Renuka P verfasserin aut An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2012 Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth. Proliferate Cell Nuclear Antigen (dpeaa)DE-He213 Imprint Gene (dpeaa)DE-He213 Adrenocortical Tumor (dpeaa)DE-He213 Adrenal Hypoplasia (dpeaa)DE-He213 Prenatal Growth (dpeaa)DE-He213 Maher, Eamonn R aut Enthalten in Genome medicine London : BioMed Central, 2009 4(2012), 7 vom: 30. Juli (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:4 year:2012 number:7 day:30 month:07 https://dx.doi.org/10.1186/gm361 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2012 7 30 07
language	English
source	Enthalten in Genome medicine 4(2012), 7 vom: 30. Juli volume:4 year:2012 number:7 day:30 month:07
sourceStr	Enthalten in Genome medicine 4(2012), 7 vom: 30. Juli volume:4 year:2012 number:7 day:30 month:07
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Proliferate Cell Nuclear Antigen Imprint Gene Adrenocortical Tumor Adrenal Hypoplasia Prenatal Growth
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container_title	Genome medicine
authorswithroles_txt_mv	Dias, Renuka P @@aut@@ Maher, Eamonn R @@aut@@
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author	Dias, Renuka P
spellingShingle	Dias, Renuka P misc Proliferate Cell Nuclear Antigen misc Imprint Gene misc Adrenocortical Tumor misc Adrenal Hypoplasia misc Prenatal Growth An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease
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topic_title	An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease Proliferate Cell Nuclear Antigen (dpeaa)DE-He213 Imprint Gene (dpeaa)DE-He213 Adrenocortical Tumor (dpeaa)DE-He213 Adrenal Hypoplasia (dpeaa)DE-He213 Prenatal Growth (dpeaa)DE-He213
topic	misc Proliferate Cell Nuclear Antigen misc Imprint Gene misc Adrenocortical Tumor misc Adrenal Hypoplasia misc Prenatal Growth
topic_unstemmed	misc Proliferate Cell Nuclear Antigen misc Imprint Gene misc Adrenocortical Tumor misc Adrenal Hypoplasia misc Prenatal Growth
topic_browse	misc Proliferate Cell Nuclear Antigen misc Imprint Gene misc Adrenocortical Tumor misc Adrenal Hypoplasia misc Prenatal Growth
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title	An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease
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title_full	An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease
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title_sort	imprinted image: insights into growth regulation through genomic analysis of a rare disease
title_auth	An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease
abstract	Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth. © BioMed Central Ltd 2012
abstractGer	Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth. © BioMed Central Ltd 2012
abstract_unstemmed	Abstract Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth. © BioMed Central Ltd 2012
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title_short	An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease
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