Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

Types of nuclear localization signals and mechanisms of protein import into the nucleus

(2021) Juane Lu et al.   Cell Communication and Signaling

Structure of the polymerase ε holoenzyme and atomic model of the leading strand replisome

(2020) Zuanning Yuan et al.   Nature Communications

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

The processivity factor Pol32 mediates nuclear localization of DNA polymerase delta and prevents chromosomal fragile site formation in Drosophila development

(2019) Jingyun Ji et al.   PLoS Genetics

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

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

Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis

(2018) Roberto Bellelli et al.   MOLECULAR CELL

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

(2018) Clare V. Logan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic GALM pathogenic variants cause a novel type of galactosemia

(2018) Yoichi Wada et al.   GENETICS IN MEDICINE

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

(2017) Julien Cottineau et al.   JOURNAL OF CLINICAL INVESTIGATION

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7

(2016) Satoshi Narumi et al.   NATURE GENETICS

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

(2015) Isabelle Thiffault et al.   BMC Medical Genetics

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

DNA replication origin activation in space and time

(2015) Michalis Fragkos et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Increased Protein Stability of CDKN1C Causes a Gain-of-Function Phenotype in Patients with IMAGe Syndrome

(2013) Naoki Hamajima et al.   PLoS One

Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics

(2012) Y Kanda   BONE MARROW TRANSPLANTATION

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

(2012) Claire R. Hughes et al.   JOURNAL OF CLINICAL INVESTIGATION

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

(2012) Jana Pachlopnik Schmid et al.   JOURNAL OF EXPERIMENTAL MEDICINE

γH2AX: a sensitive molecular marker of DNA damage and repair

(2010) L-J Mah et al.   LEUKEMIA

Aberrant DNA Polymerase α Is Excluded from the Nucleus by Defective Import and Degradation in the Nucleus

(2009) Christian S. Eichinger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY