Associated Papers
Modeling MPPH syndrome in vivo using Breasi-CRISPR.
Kittock CM et al.
Hgg Advances, 2025
AML1-ETO and CCND2 overexpression cooperate to drive acute myeloid leukemia initiation and progression.
Mou J et al.
Journal of Leukocyte Biology, 2025
Mechanism of D-type cyclin recognition by the AMBRA1 E3 ligase receptor.
Wang Y et al.
Science Advances, 2025
A comprehensive benchmark for multiple highly efficient base editors with broad targeting scope.
Wang X et al.
Biorxiv : the Preprint Server for Biology, 2025
A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
Zhao MF et al.
Dna and Cell Biology, 2024
CCND2 mutations in atypical chronic myeloid leukemia: a report of two cases.
Iaquinta G et al.
Leukemia & Lymphoma, 2023
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C et al.
Bmc Genomics, 2023
Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly.
Carpentieri JA et al.
Nature Communications, 2022
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi F et al.
American Journal of Medical Genetics. Part A, 2021
Cyclin-dependent kinases and rare developmental disorders.
Colas P
Orphanet Journal of Rare Diseases, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
Genetics and mechanisms leading to human cortical malformations.
Romero DM et al.
Seminars in Cell & Developmental Biology, 2018
Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia.
Eisfeld AK et al.
Leukemia, 2017
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Mirzaa G et al.
Nature Genetics, 2014
PTEN controls β-cell regeneration in aged mice by regulating cell cycle inhibitor p16ink4a.
Zeng N et al.
Aging Cell, 2013
Multiple mechanisms for p27(Kip1) translocation and degradation.
Susaki E et al.
Cell Cycle (georgetown, Tex.), 2007