Associated Papers
Molecular Mechanisms of Proliferative Senescence and Genomic Instability in Werner Syndrome and the WRN Gene Network.
Poot M
Cytogenetic and Genome Research, 2025
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging.
Murdocca M et al.
Mechanisms of Ageing and Development, 2023
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient.
Zuo B et al.
Bmc Medical Genomics, 2022
Eye pain and blurred vision as main complaints in a new case with MDPL syndrome.
Zhou L et al.
European Journal of Ophthalmology, 2022
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Chopra M et al.
European Journal of Human Genetics : Ejhg, 2022
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
The enigma of persistent hypertriglyceridemia: A case report.
Dhaliwal A et al.
Clinical Case Reports, 2022
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Campos JTAM et al.
Genetics and Molecular Biology, 2022
POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.
Chen YX et al.
Clinical and Translational Medicine, 2021
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman.
Yu PT et al.
American Journal of Medical Genetics. Part A, 2021
Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity.
Murdocca M et al.
Aging, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis.
Zhang J et al.
Dna and Cell Biology, 2020
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.
Fiorillo C et al.
Dna and Cell Biology, 2018
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
Sasaki H et al.
Endocrine Journal, 2018
Gene screening facilitates diagnosis of complicated symptoms: A case report.
Duan H et al.
Molecular Medicine Reports, 2017
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
Elouej S et al.
Metabolism: Clinical and Experimental, 2017
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.
Oshima J et al.
Ageing Research Reviews, 2017
The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.
O'Driscoll M
The Journal of Pathology, 2017
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection.
Okada A et al.
Human Genome Variation, 2017
POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.
Nicolas E et al.
Gene, 2016
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Lessel D et al.
Human Mutation, 2015
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
Reinier F et al.
Metabolism: Clinical and Experimental, 2015
Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.
Pelosini C et al.
Metabolism: Clinical and Experimental, 2014