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

CTCF Mediates Replicative Senescence Through POLD1

(2021) Yuli Hou et al.   Frontiers in Cell and Developmental Biology

Structure of the processive human Pol δ holoenzyme

(2020) Claudia Lancey et al.   Nature Communications

An additional case of Néstor‐Guillermo progeria syndrome diagnosed in early childhood

(2020) Heather G. Fisher et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection

(2020) Xiu-Wen Wang et al.   CHINESE MEDICAL JOURNAL

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

(2020) Sahar Elouej et al.   Nature Communications

Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome

(2019) Julio Aguado et al.   Nature Communications

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

Regulation and Modulation of Human DNA Polymerase δ Activity and Function

(2017) et al.   Genes

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

(2016) Emmanuelle Nicolas et al.   GENE

Human POLD1 modulates cell cycle progression and DNA damage repair

(2015) Jing Song et al.   BMC BIOCHEMISTRY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

POLD1Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

(2015) Davor Lessel et al.   HUMAN MUTATION

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

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

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

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

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

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

(2011) Xose S. Puente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Features and development ofCoot

(2010) P. Emsley et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

The p12 Subunit of Human Polymerase δ Modulates the Rate and Fidelity of DNA Synthesis

(2010) Xiao Meng et al.   BIOCHEMISTRY

Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence

(2010) E. K. Benson et al.   JOURNAL OF CELL SCIENCE

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

Telomere length in Hutchinson-Gilford Progeria Syndrome

(2009) Michelle L. Decker et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Suppression of Proliferative Defects Associated with Processing-defective Lamin A Mutants by hTERT or Inactivation of p53

(2008) Brian A. Kudlow et al.   MOLECULAR BIOLOGY OF THE CELL