Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2022 - jmg.bmj.com
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
VA Arboleda, H Lee, R Parnaik, A Fleming… - Nature …, 2012 - nature.com
IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal
hypoplasia congenita and genital anomalies) is an undergrowth developmental disorder …
hypoplasia congenita and genital anomalies) is an undergrowth developmental disorder …
Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene
D Milani, L Pezzani, S Tabano… - The application of clinical …, 2014 - Taylor & Francis
Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin
allele-specific expression. Beckwith–Wiedemann syndrome (BWS) is an imprinting disease …
allele-specific expression. Beckwith–Wiedemann syndrome (BWS) is an imprinting disease …
Gain of function in CDKN1C
A Riccio, MV Cubellis - Nature genetics, 2012 - nature.com
Loss-of-function mutations in the gene encoding the cyclin-dependent kinase inhibitor
CDKN1C cause Beckwith-Wiedemann syndrome and cancer. A new study now identifies …
CDKN1C cause Beckwith-Wiedemann syndrome and cancer. A new study now identifies …
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
[HTML][HTML] Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C
A Sparago, F Cerrato, L Pignata, F Cammarata-Scalisi… - Genes, 2021 - mdpi.com
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal
and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor …
and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor …
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene
D Jurkiewicz, A Skorka, E Ciara, M Kugaudo… - Clinical …, 2020 - journals.lww.com
Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder
characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised …
characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised …
Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome
SJ Tunster, M Van de Pette… - Disease models & …, 2011 - journals.biologists.com
Mutations in the imprinted CDKN1C gene are associated with the childhood developmental
disorder Beckwith-Wiedemann syndrome (BWS). Multiple mouse models with deficiency of …
disorder Beckwith-Wiedemann syndrome (BWS). Multiple mouse models with deficiency of …
Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
H Yatsuki, K Higashimoto, K Jozaki, K Koide, J Okada… - Genes & Genomics, 2013 - Springer
Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease that is
characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor …
characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor …
CDKN1C mutations: two sides of the same coin
Cyclin-dependent kinase (CDK)-inhibitor 1C (CDKN1C) negatively regulates cellular
proliferation and it has been shown that loss-of-function mutations in the imprinted CDKN1C …
proliferation and it has been shown that loss-of-function mutations in the imprinted CDKN1C …