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
Autor*in: |
Dias, Renuka P [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2012 |
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Anmerkung: |
© BioMed Central Ltd 2012 |
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Übergeordnetes Werk: |
Enthalten in: Genome medicine - London : BioMed Central, 2009, 4(2012), 7 vom: 30. Juli |
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Übergeordnetes Werk: |
volume:4 ; year:2012 ; number:7 ; day:30 ; month:07 |
Links: |
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DOI / URN: |
10.1186/gm361 |
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Katalog-ID: |
SPR030592453 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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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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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score |
7.400176 |