Impact of DNA repair and stability defects on cortical development

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients

(2018) Bruna L. Freire et al.   European Journal of Medical Genetics

The genetics of congenitally small brains

(2018) Sarah Duerinckx et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

(2017) Tuba Dinçer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A review of the physical features of the fetal alcohol spectrum disorders

(2017) Miguel del Campo et al.   European Journal of Medical Genetics

Transcription-Coupled DNA Double-Strand Break Repair: Active Genes Need Special Care

(2017) Aline Marnef et al.   JOURNAL OF MOLECULAR BIOLOGY

Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain

(2017) Grasiella A. Andriani et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Microtubule dynamics drive enhanced chromatin motion and mobilize telomeres in response to DNA damage

(2017) Josh Lawrimore et al.   MOLECULAR BIOLOGY OF THE CELL

ATM, ATR, and DNA-PK: The Trinity at the Heart of the DNA Damage Response

(2017) Andrew N. Blackford et al.   MOLECULAR CELL

The essential kinase ATR: ensuring faithful duplication of a challenging genome

(2017) Joshua C. Saldivar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Autosomal Recessive Primary Microcephaly (MCPH): An Update

(2017) Deborah Morris-Rosendahl et al.   NEUROPEDIATRICS

Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly

(2017) Federico Tommaso Bianchi et al.   Cell Reports

The DNA damage response molecule MCPH1 in brain development and beyond

(2016) Xiaoqian Liu et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Investigating somatic aneuploidy in the brain: why we need a new model

(2016) Jimi L. Rosenkrantz et al.   CHROMOSOMA

ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules

(2016) Marta Gai et al.   EMBO REPORTS

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

(2016) Carol-Anne Martin et al.   GENES & DEVELOPMENT

DNA-PKcs, ATM, and ATR Interplay Maintains Genome Integrity during Neurogenesis

(2016) Vanessa Enriquez-Rios et al.   JOURNAL OF NEUROSCIENCE

Phosphorylated CtIP Functions as a Co-factor of the MRE11-RAD50-NBS1 Endonuclease in DNA End Resection

(2016) Roopesh Anand et al.   MOLECULAR CELL

The Fanconi anaemia pathway: new players and new functions

(2016) Raphael Ceccaldi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

DNA ligase IV syndrome; a review

(2016) Thomas Altmann et al.   Orphanet Journal of Rare Diseases

The presence of extra chromosomes leads to genomic instability

(2016) Verena Passerini et al.   Nature Communications

Essential Function of Dicer in Resolving DNA Damage in the Rapidly Dividing Cells of the Developing and Malignant Cerebellum

(2016) Vijay Swahari et al.   Cell Reports

Current Evidence for Developmental, Structural, and Functional Brain Defects following Prenatal Radiation Exposure

(2016) Tine Verreet et al.   NEURAL PLASTICITY

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

(2015) Jose Bras et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

(2015) Patrick Rump et al.   BMC Medical Genomics

Tissue-specific control of midbody microtubule stability by Citron kinase through modulation of TUBB3 phosphorylation

(2015) F Sgrò et al.   CELL DEATH AND DIFFERENTIATION

Centrosomes are multifunctional regulators of genome stability

(2015) Dorothy A. Lerit et al.   CHROMOSOME RESEARCH

Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice

(2015) Scott E. Williams et al.   DEVELOPMENT

Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability

(2015) M. Shimada et al.   EMBO JOURNAL

Differential Phosphorylation of DNA-PKcs Regulates the Interplay between End-Processing and End-Ligation during Nonhomologous End-Joining

(2015) Wenxia Jiang et al.   MOLECULAR CELL

Microtubule-targeting agents augment the toxicity of DNA-damaging agents by disrupting intracellular trafficking of DNA repair proteins

(2015) Marianne S. Poruchynsky et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The DNA-dependent protein kinase: A multifunctional protein kinase with roles in DNA double strand break repair and mitosis

(2015) Nicholas Jette et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Polymerase Θ is a key driver of genome evolution and of CRISPR/Cas9-mediated mutagenesis

(2015) Robin van Schendel et al.   Nature Communications

Congenital microcephaly

(2014) Diana Alcantara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The Cell Biology of Neurogenesis: Toward an Understanding of the Development and Evolution of the Neocortex

(2014) Elena Taverna et al.   Annual Review of Cell and Developmental Biology

Role of radial glial cells in cerebral cortex folding

(2014) Víctor Borrell et al.   CURRENT OPINION IN NEUROBIOLOGY

Emerging roles of MCPH1: Expedition from primary microcephaly to cancer

(2014) Thejaswini Venkatesh et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Insight in the multilevel regulation of NER

(2014) Madelon Dijk et al.   EXPERIMENTAL CELL RESEARCH

Genomic analysis of primordial dwarfism reveals novel disease genes

(2014) R. Shaheen et al.   GENOME RESEARCH

Role of BRCA1 in brain development

(2014) Gerald M. Pao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Is Non-Homologous End-Joining Really an Inherently Error-Prone Process?

(2014) Mireille Bétermier et al.   PLoS Genetics

Causes of Genome Instability

(2013) Andrés Aguilera et al.   Annual Review of Genetics

DNA repair mechanisms in dividing and non-dividing cells

(2013) Teruaki Iyama et al.   DNA REPAIR

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

(2013) Salma Awad et al.   HUMAN MOLECULAR GENETICS

The REV7 Subunit of DNA Polymerase ζ Is Essential for Primordial Germ Cell Maintenance in the Mouse

(2013) Naoki Watanabe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PRKDC mutations in a SCID patient with profound neurological abnormalities

(2013) Lisa Woodbine et al.   JOURNAL OF CLINICAL INVESTIGATION

Replication Stress-Induced Genome Instability: The Dark Side of Replication Maintenance by Homologous Recombination

(2013) Antony M. Carr et al.   JOURNAL OF MOLECULAR BIOLOGY

A Cell Cycle-Dependent Regulatory Circuit Composed of 53BP1-RIF1 and BRCA1-CtIP Controls DNA Repair Pathway Choice

(2013) Cristina Escribano-Díaz et al.   MOLECULAR CELL

Maintaining genome stability in the nervous system

(2013) Peter J McKinnon   NATURE NEUROSCIENCE

DNA damage associated with mitosis and cytokinesis failure

(2013) M T Hayashi et al.   ONCOGENE

ATR maintains select progenitors during nervous system development

(2012) Youngsoo Lee et al.   EMBO JOURNAL

Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs

(2012) Shruti Malu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography

(2012) Larry H. Thompson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Neurogenesis requires TopBP1 to prevent catastrophic replicative DNA damage in early progenitors

(2012) Youngsoo Lee et al.   NATURE NEUROSCIENCE

Down syndrome: the brain in trisomic mode

(2012) Mara Dierssen   NATURE REVIEWS NEUROSCIENCE

Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer

(2012) Susan M. Domchek et al.   Cancer Discovery

ASPM influences DNA double-strand break repair and represents a potential target for radiotherapy

(2011) Takamitsu A. Kato et al.   INTERNATIONAL JOURNAL OF RADIATION BIOLOGY

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II

(2011) Daisuke Yamashita et al.   JOURNAL OF CELL BIOLOGY

Requirement for DNA Ligase IV during Embryonic Neuronal Development

(2011) S. A. Gatz et al.   JOURNAL OF NEUROSCIENCE

Centrosomes, microtubules and neuronal development

(2011) Marijn Kuijpers et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1–Cdc25 pathway

(2011) Ralph Gruber et al.   NATURE CELL BIOLOGY

Neural stem and progenitor cells shorten S-phase on commitment to neuron production

(2011) Yoko Arai et al.   Nature Communications

Overview of Base Excision Repair Biochemistry

(2011) Yun-Jeong Kim et al.   Current Molecular Pharmacology

Expanded roles of the Fanconi anemia pathway in preserving genomic stability

(2010) Y. Kee et al.   GENES & DEVELOPMENT

Neurotoxic mechanisms of DNA damage: focus on transcriptional inhibition

(2010) Michal Hetman et al.   JOURNAL OF NEUROCHEMISTRY

Developmental genetics of vertebrate glial–cell specification

(2010) David H. Rowitch et al.   NATURE

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

The Basics of Brain Development

(2010) Joan Stiles et al.   NEUROPSYCHOLOGY REVIEW

Microcephalin Regulates BRCA2 and Rad51-Associated DNA Double-Strand Break Repair

(2009) Xianglin Wu et al.   CANCER RESEARCH

Cdk4/CyclinD1 Overexpression in Neural Stem Cells Shortens G1, Delays Neurogenesis, and Promotes the Generation and Expansion of Basal Progenitors

(2009) Christian Lange et al.   Cell Stem Cell

Neuropathogenesis of Congenital Cytomegalovirus Infection: Disease Mechanisms and Prospects for Intervention

(2009) M. C.-J. Cheeran et al.   CLINICAL MICROBIOLOGY REVIEWS

Effects of sex chromosome aneuploidies on brain development: Evidence from neuroimaging studies

(2009) Rhoshel K. Lenroot et al.   Developmental Disabilities Research Reviews

The DNA-damage response in human biology and disease

(2009) Stephen P. Jackson et al.   NATURE

A mechanism linking extra centrosomes to chromosomal instability

(2009) Neil J. Ganem et al.   NATURE

BRIT1/MCPH1 links chromatin remodelling to DNA damage response

(2009) Guang Peng et al.   NATURE CELL BIOLOGY

A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging

(2009) Matilde Murga et al.   NATURE GENETICS

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

(2009) James E. Cleaver et al.   NATURE REVIEWS GENETICS

DNA repair deficiency and neurological disease

(2009) Peter J. McKinnon   NATURE REVIEWS NEUROSCIENCE

Many roads lead to primary autosomal recessive microcephaly

(2009) Angela M. Kaindl et al.   PROGRESS IN NEUROBIOLOGY

Neurogenesis and asymmetric cell division

(2008) Weimin Zhong et al.   CURRENT OPINION IN NEUROBIOLOGY

Comparison of nonhomologous end joining and homologous recombination in human cells

(2008) Z MAO et al.   DNA REPAIR

MCPH1/BRIT1 cooperates with E2F1 in the activation of checkpoint, DNA repair and apoptosis

(2008) Shan-Zhong Yang et al.   EMBO REPORTS

A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining

(2008) Mirjam van der Burg et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome instability: a mechanistic view of its causes and consequences

(2008) Andrés Aguilera et al.   NATURE REVIEWS GENETICS

Single-strand break repair and genetic disease

(2008) Keith W. Caldecott   NATURE REVIEWS GENETICS