Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome
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Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.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 diabetesCdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.Maternal-fetal conflict, genomic imprinting and mammalian vulnerabilities to cancer.Regulation of the adrenocortical stem cell niche: implications for diseaseEpigenetic Characterization of CDKN1C in Placenta Samples from Non-syndromic Intrauterine Growth Restriction.Diagnosis and management of pediatric adrenal insufficiency.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.Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome.
P2860
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P2860
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome
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2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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name
Increased protein stability of ...... n patients with IMAGe syndrome
@ast
Increased protein stability of ...... n patients with IMAGe syndrome
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type
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Increased protein stability of ...... n patients with IMAGe syndrome
@ast
Increased protein stability of ...... n patients with IMAGe syndrome
@en
prefLabel
Increased protein stability of ...... n patients with IMAGe syndrome
@ast
Increased protein stability of ...... n patients with IMAGe syndrome
@en
P2093
P2860
P1433
P1476
Increased protein stability of ...... n patients with IMAGe syndrome
@en
P2093
Makoto Nakanishi
Naoki Hamajima
Satoshi Suzuki
Yoshikazu Johmura
P2860
P304
P356
10.1371/JOURNAL.PONE.0075137
P407
P577
2013-09-30T00:00:00Z