Associated Papers
Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein-protein interactions.
Murdocca M et al.
Human Genomics, 2025
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Molecular Mechanisms of Proliferative Senescence and Genomic Instability in Werner Syndrome and the WRN Gene Network.
Poot M
Cytogenetic and Genome Research, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
When do the pathological signs become evident? Study of human mesenchymal stem cells in MDPL syndrome.
Paola S et al.
Aging, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Gippert S et al.
Endocrine, 2024
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.
Fu X et al.
Frontiers in Endocrinology, 2024
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
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
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.
Wang XW et al.
Chinese Medical Journal, 2020
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
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
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
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Weedon MN et al.
Nature Genetics, 2013
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.
Wang LR et al.
Journal of Investigative Medicine High Impact Case Reports, 0