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

Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

(2020) Jacqueline S. Dron et al.   BMC Medical Genomics

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

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

Structure of the processive human Pol δ holoenzyme

(2020) Claudia Lancey et al.   Nature Communications

POLD1 deficiency is involved in cognitive function impairment in AD patients and SAMP8 mice

(2019) Shichao Gao et al.   BIOMEDICINE & PHARMACOTHERAPY

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

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

ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

(2016) Haim Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

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

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

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

A Bridging [4Fe-4S] Cluster and Nucleotide Binding Are Essential for Function of the Cfd1-Nbp35 Complex as a Scaffold in Iron-Sulfur Protein Maturation

(2012) Daili J. A. Netz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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