From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging

Hallmarks of aging: An expanding universe

(2023) Carlos López-Otín et al.   CELL

Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients

(2022) Michela Murdocca et al.   Aging-US

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1

(2022) Maya Chopra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

POLE/POLD1 mutation and tumor immunotherapy

(2022) Xiaoting Ma et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity

(2022) Xiaoxiao Ma et al.   NATURE GENETICS

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

(2022) Esther Schamschula et al.   Biomolecules

Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity

(2021) Michela Murdocca et al.   Aging-US

Eye pain and blurred vision as main complaints in a new case with MDPL syndrome

(2021) Lin Zhou et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

The central role of DNA damage in the ageing process

(2021) Björn Schumacher et al.   NATURE

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2021) Rong Mao et al.   GENETICS IN MEDICINE

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.

(2021) Vasudha Mantravadi et al.   Frontiers in Immunology

Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1

(2021) Battisti Gladys et al.   European Journal of Medical Genetics

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

(2020) Doo‐Yi Oh et al.   HUMAN MUTATION

Metformin Enhances Autophagy and Normalizes Mitochondrial Function to Alleviate Aging-Associated Inflammation

(2020) Leena P. Bharath et al.   Cell Metabolism

Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman

(2020) Pui Tak Yu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The catalytic subunit of DNA polymerase δ is a nucleocytoplasmic shuttling protein

(2019) Yuehong Shen et al.   EXPERIMENTAL CELL RESEARCH

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

(2019) Cecilia Domínguez Conde et al.   JOURNAL OF CLINICAL INVESTIGATION

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1

(2019) Ye Cui et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Comprehensive analysis of POLE and POLD1 Gene Variations identifies cancer patients potentially benefit from immunotherapy in Chinese population

(2019) Jianfei Yao et al.   Scientific Reports

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

(2018) Chiara Fiorillo et al.   DNA AND CELL BIOLOGY

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

(2017) Sahar Elouej et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

The catalytic subunit of DNA polymerase δ inhibits γTuRC activity and regulates Golgi-derived microtubules

(2017) Yuehong Shen et al.   Nature Communications

Long non-coding RNA PVT1 and cancer

(2016) Ming Cui et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies

(2016) Emmanuelle Nicolas et al.   GENE

Identification of crucial regulatory relationships between long non-coding RNAs and protein-coding genes in lung squamous cell carcinoma

(2016) Xiaofen Wu et al.   MOLECULAR AND CELLULAR PROBES

miR-155 Overexpression Promotes Genomic Instability by Reducing High-fidelity Polymerase Delta Expression and Activating Error-Prone DSB Repair

(2016) J. R. Czochor et al.   MOLECULAR CANCER RESEARCH

Nuclear DNA damage signalling to mitochondria in ageing

(2016) Evandro Fei Fang et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Roles of human POLD1 and POLD3 in genome stability

(2016) Emanuela Tumini et al.   Scientific Reports

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

(2015) Fernando Bellido et al.   GENETICS IN MEDICINE

POLD1Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

(2015) Davor Lessel et al.   HUMAN MUTATION

Frequency and phenotypic spectrum of germline mutations inPOLEand seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

(2015) Isabel Spier et al.   INTERNATIONAL JOURNAL OF CANCER

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

(2015) Frederic Reinier et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

A Major Role of DNA Polymerase δ in Replication of Both the Leading and Lagging DNA Strands

(2015) Robert E. Johnson et al.   MOLECULAR CELL

Tracking replication enzymology in vivo by genome-wide mapping of ribonucleotide incorporation

(2015) Anders R Clausen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A global profile of replicative polymerase usage

(2015) Yasukazu Daigaku et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Human telomere biology: A contributory and interactive factor in aging, disease risks, and protection

(2015) E. H. Blackburn et al.   SCIENCE

Tracking replication enzymology in vivo by genome-wide mapping of ribonucleotide incorporation

(2015) Anders R Clausen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A global profile of replicative polymerase usage

(2015) Yasukazu Daigaku et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Reconstitution of a eukaryotic replisome reveals suppression mechanisms that define leading/lagging strand operation

(2015) Roxana E Georgescu et al.   eLife

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

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

(2014) Caterina Pelosini et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

The tail that wags the dog: p12, the smallest subunit of DNA polymerase δ, is degraded by ubiquitin ligases in response to DNA damage and during cell cycle progression

(2013) Marietta Y.W.T. Lee et al.   CELL CYCLE

The role of mitochondria in aging

(2013) Ana Bratic et al.   JOURNAL OF CLINICAL INVESTIGATION

Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers

(2013) Sarah Briggs et al.   JOURNAL OF PATHOLOGY

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

(2013) Michael N Weedon et al.   NATURE GENETICS

Okazaki Fragment Metabolism

(2013) L. Balakrishnan et al.   Cold Spring Harbor Perspectives in Biology

DNA polymerase delta in dna replication and genome maintenance

(2012) Marc J. Prindle et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Nuclear damages and oxidative stress: new perspectives for laminopathies

(2012) G. Lattanzi et al.   EUROPEAN JOURNAL OF HISTOCHEMISTRY

Age-dependent down-regulation of DNA polymerase δ1 in human lymphocytes

(2012) Jin-Ling Wang et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Measurement of H2O2 within Living Drosophila during Aging Using a Ratiometric Mass Spectrometry Probe Targeted to the Mitochondrial Matrix

(2011) Helena M. Cochemé et al.   Cell Metabolism

Eukaryotic DNA polymerases require an iron-sulfur cluster for the formation of active complexes

(2011) Daili J A Netz et al.   Nature Chemical Biology

Regulation of DNA Polymerase POLD4 Influences Genomic Instability in Lung Cancer

(2010) Q. M. Huang et al.   CANCER RESEARCH

A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

(2010) Savitha Shastry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

High fidelity and lesion bypass capability of human DNA polymerase δ

(2009) Michael W. Schmitt et al.   BIOCHIMIE

Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients

(2009) Gabriela Viteri et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Functional genomic screens identify CINP as a genome maintenance protein

(2009) C. A. Lovejoy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reduced Levels of DNA Polymerase   Induce Chromosome Fragile Site Instability in Yeast

(2008) F. J. Lemoine et al.   MOLECULAR AND CELLULAR BIOLOGY

Division of Labor at the Eukaryotic Replication Fork

(2008) Stephanie A. Nick McElhinny et al.   MOLECULAR CELL

Telomeres and Aging

(2008) Geraldine Aubert et al.   PHYSIOLOGICAL REVIEWS