Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
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The role and interaction of imprinted genes in human fetal growthAdvances in Skeletal Dysplasia GeneticsGain of function in CDKN1CWnt7b Signaling from the Ureteric Bud Epithelium Regulates Medullary Capillary Development.Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux typeImpact of the next-generation sequencing data depth on various biological result inferences.Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.Genetic evaluation of short stature.Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same geneA novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetesIs Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrationsIncreased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndromeDevelopment of adrenal cortex zonation.Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2.Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.The developmental expression of the CDK inhibitor p57(kip2) (Cdkn1c) in the early mouse placenta.SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.Dnmt3a Regulates Proliferation of Muscle Satellite Cells via p57Kip2.Maternal-fetal conflict, genomic imprinting and mammalian vulnerabilities to cancer.Regulation of the adrenocortical stem cell niche: implications for diseaseRare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortCDK inhibitor p57 (Kip2) is negatively regulated by COP9 signalosome subunit 6Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.Conditional mutagenesis of Gata6 in SF1-positive cells causes gonadal-like differentiation in the adrenal cortex of mice.CDK inhibitor p57 (Kip2) is downregulated by Akt during HER2-mediated tumorigenicity.Epigenetic Characterization of CDKN1C in Placenta Samples from Non-syndromic Intrauterine Growth Restriction.Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.New developments in Silver-Russell syndrome and implications for clinical practiceMild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.From Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective.Molecular findings in Beckwith-Wiedemann syndrome.Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Adrenocortical growth and cancer.Proteomic profiling identified multiple short-lived members of the central proteome as the direct targets of the addicted oncogenes in cancer cells.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase.Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
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P2860
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
description
2012 nî lūn-bûn
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2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@ast
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@en
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@en-gb
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@nl
type
label
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@ast
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@en
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@en-gb
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@nl
prefLabel
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@ast
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@en
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@en-gb
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
@en
P2093
Abhik Banerjee
Alice Fleming
Debora Braslavsky
Emmanuèle C Délot
Eric Vilain
Esteban C Dell'Angelica
Ignacio Bergadá
Imilce A Rodriguez-Fernandez
Rahul Parnaik
P2860
P2888
P304
P3181
P356
10.1038/NG.2275
P407
P577
2012-07-01T00:00:00Z
P5875
P6179
1030682778