Time is of the essence: the molecular mechanisms of primary microcephaly

Gradual centriole maturation associates with the mitotic surveillance pathway in mouse development

(2021) Cally Xiao et al.   EMBO REPORTS

Centriole and PCM cooperatively recruit CEP192 to spindle poles to promote bipolar spindle assembly

(2021) Takumi Chinen et al.   JOURNAL OF CELL BIOLOGY

The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex

(2021) Kerstin Hasenpusch-Theil et al.   Frontiers in Cell and Developmental Biology

Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

(2021) Bas Wolf et al.   EMBO JOURNAL

Centrosome regulation and function in mammalian cortical neurogenesis

(2021) Jiajun Yang et al.   CURRENT OPINION IN NEUROBIOLOGY

WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation

(2021) Amanda Guerreiro et al.   JOURNAL OF CELL BIOLOGY

Polyploidy control in hepatic health and disease

(2021) Valentina C. Sladky et al.   JOURNAL OF HEPATOLOGY

Augmin deficiency in neural stem cells causes p53-dependent apoptosis and aborts brain development

(2021) Ricardo Viais et al.   eLife

Deficient adaptation to centrosome duplication defects in neural progenitors causes microcephaly and subcortical heterotopias

(2021) José González-Martínez et al.   JCI Insight

Centrosomes: The good and the bad for brain development

(2020) Véronique Marthiens et al.   BIOLOGY OF THE CELL

Loss of CPAP in developing mouse brain and its functional implication in human primary microcephaly

(2020) Yi-Nan Lin et al.   JOURNAL OF CELL SCIENCE

Centrosome anchoring regulates progenitor properties and cortical formation

(2020) Wei Shao et al.   NATURE

Zika Virus and the Risk of Developing Microcephaly in Infants: A Systematic Review

(2020) Evangelia Antoniou et al.   International Journal of Environmental Research and Public Health

Autophagy-mediated apoptosis eliminates aneuploid cells in a mouse model of chromosome mosaicism

(2020) Shruti Singla et al.   Nature Communications

A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)

(2020) Masoud Dehghan Tezerjani et al.   Frontiers in Pediatrics

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

(2020) Francesca Cristofoli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

(2020) David A. Parry et al.   GENETICS IN MEDICINE

Keeping track of time: The fundamentals of cellular clocks

(2020) Colin R. Gliech et al.   JOURNAL OF CELL BIOLOGY

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

(2020) Muhammad Farooq et al.   Nature Communications

SMC5/6 is required for replication fork stability and faithful chromosome segregation during neurogenesis

(2020) Alisa Atkins et al.   eLife

Cilia, ciliopathies and hedgehog-related forebrain developmental disorders

(2020) Abraham Andreu-Cervera et al.   NEUROBIOLOGY OF DISEASE

Mechanism and Regulation of Centriole and Cilium Biogenesis

(2019) David K. Breslow et al.   Annual Review of Biochemistry

Cenpj regulates cilia disassembly and neurogenesis in the developing mouse cortex

(2019) Wenyu Ding et al.   JOURNAL OF NEUROSCIENCE

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

(2019) Karin Weiss et al.   European Journal of Medical Genetics

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish

(2019) Yonatan Perez et al.   BRAIN

Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly

(2019) Yanghui Zhang et al.   CLINICA CHIMICA ACTA

Haploinsufficiency of GCP4 induces autophagy and leads to photoreceptor degeneration due to defective spindle assembly in retina

(2019) Zhigang Li et al.   CELL DEATH AND DIFFERENTIATION

The Spatiotemporal Pattern and Intensity of p53 Activation Dictates Phenotypic Diversity in p53-Driven Developmental Syndromes

(2019) Margot E. Bowen et al.   DEVELOPMENTAL CELL

Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion

(2019) Lei Shi et al.   Nature Communications

Modeling microcephaly with cerebral organoids reveals a WDR62–CEP170–KIF2A pathway promoting cilium disassembly in neural progenitors

(2019) Wei Zhang et al.   Nature Communications

Genes and Mechanisms Involved in the Generation and Amplification of Basal Radial Glial Cells

(2019) Maxime Penisson et al.   Frontiers in Cellular Neuroscience

Dosage-dependent requirements of Magoh for cortical interneuron generation and survival

(2019) Charles J. Sheehan et al.   DEVELOPMENT

The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases

(2019) Francesca Degrassi et al.   Cells

The Genetics of Primary Microcephaly

(2018) Divya Jayaraman et al.   Annual Review of Genomics and Human Genetics

Expanding the clinical spectrum of biallelic ZNF335 variants

(2018) K. Stouffs et al.   CLINICAL GENETICS

Biallelic variants in KIF14 cause intellectual disability with microcephaly

(2018) Periklis Makrythanasis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The impact of mitotic errors on cell proliferation and tumorigenesis

(2018) Michelle S. Levine et al.   GENES & DEVELOPMENT

Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management

(2018) Delan Devakumar et al.   LANCET INFECTIOUS DISEASES

Same but different: pleiotropy in centrosome-related microcephaly

(2018) Ryan S. O’Neill et al.   MOLECULAR BIOLOGY OF THE CELL

USP28 Deficiency Promotes Breast and Liver Carcinogenesis as well as Tumor Angiogenesis in a HIF-independent Manner

(2018) Kati Richter et al.   MOLECULAR CANCER RESEARCH

Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size

(2018) Matthew B. Johnson et al.   NATURE

Once and only once: mechanisms of centriole duplication and their deregulation in disease

(2018) Erich A. Nigg et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

STIL balancing primary microcephaly and cancer

(2018) Dhruti Patwardhan et al.   Cell Death & Disease

Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells

(2018) Marybeth Baumgartner et al.   DEVELOPMENT

Genomic and phenotypic delineation of congenital microcephaly

(2018) Ranad Shaheen et al.   GENETICS IN MEDICINE

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

(2018) Tamar Harel et al.   NEUROGENETICS

The diverse consequences of aneuploidy

(2018) Narendra Kumar Chunduri et al.   NATURE CELL BIOLOGY

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

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

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

(2017) Gilad D. Evrony et al.   GENOME RESEARCH

PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation

(2017) Tatsuo Miyamoto et al.   HUMAN MOLECULAR GENETICS

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

(2017) Andrew DiStasio et al.   HUMAN MOLECULAR GENETICS

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene

(2017) MUZAMMIL AHMAD KHAN et al.   JOURNAL OF GENETICS

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

(2017) John J Reynolds et al.   NATURE GENETICS

A New Mode of Mitotic Surveillance

(2017) Bramwell G. Lambrus et al.   TRENDS IN CELL BIOLOGY

Glial Cells and Their Function in the Adult Brain: A Journey through the History of Their Ablation

(2017) Sarah Jäkel et al.   Frontiers in Cellular Neuroscience

Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles

(2017) Hsin-Yi Chen et al.   Nature Communications

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly

(2017) Paraskevi Sgourdou et al.   Scientific Reports

p53 Prohibits Propagation of Chromosome Segregation Errors that Produce Structural Aneuploidies

(2017) Mar Soto et al.   Cell Reports

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

(2017) Federico Tommaso Bianchi et al.   Cell Reports

Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease

(2017) Rui Li et al.   Protein & Cell

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

(2016) Aimee L. Fenwick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

(2016) Hongda Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

(2016) Brian N. Harding et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular and phenotypic spectrum ofASPM-related primary microcephaly: Identification of eight novel mutations

(2016) Mohamed S. Abdel-Hamid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

First clinical report of an infant with microcephaly andCASC5mutations

(2016) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanisms of Mitotic Spindle Assembly

(2016) Sabine Petry   Annual Review of Biochemistry

Centriolar CPAP/SAS-4 Imparts Slow Processive Microtubule Growth

(2016) Ashwani Sharma et al.   DEVELOPMENTAL CELL

CPAP promotes timely cilium disassembly to maintain neural progenitor pool

(2016) Elke Gabriel et al.   EMBO JOURNAL

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

Aneuploidy impairs hematopoietic stem cell fitness and is selected against in regenerating tissues in vivo

(2016) Sarah J. Pfau et al.   GENES & DEVELOPMENT

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

(2016) Ranad Shaheen et al.   HUMAN GENETICS

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly

(2016) Sulman Basit et al.   HUMAN GENETICS

A USP28–53BP1–p53–p21 signaling axis arrests growth after centrosome loss or prolonged mitosis

(2016) Bramwell G. Lambrus et al.   JOURNAL OF CELL BIOLOGY

53BP1 and USP28 mediate p53 activation and G1 arrest after centrosome loss or extended mitotic duration

(2016) Franz Meitinger et al.   JOURNAL OF CELL BIOLOGY

Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis

(2016) Svetlana Popova et al.   LANCET

Cilium assembly and disassembly

(2016) Irma Sánchez et al.   NATURE CELL BIOLOGY

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

(2016) Divya Jayaraman et al.   NEURON

Prolonged Mitosis of Neural Progenitors Alters Cell Fate in the Developing Brain

(2016) Louis-Jan Pilaz et al.   NEURON

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report

(2016) R. Sato et al.   PEDIATRICS

Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential

(2016) Helen Bolton et al.   Nature Communications

Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis

(2016) Jia-Kai Li et al.   Scientific Reports

The Microcephaly-Associated Protein Wdr62/CG7337 Is Required to Maintain Centrosome Asymmetry in Drosophila Neuroblasts

(2016) Anjana Ramdas Nair et al.   Cell Reports

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

(2016) Rotem Kadir et al.   PLoS Genetics

53BP1 and USP28 mediate p53-dependent cell cycle arrest in response to centrosome loss and prolonged mitosis

(2016) Chii Shyang Fong et al.   eLife

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

(2015) Sophie Scheidecker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

(2015) Lindsay C. Burrage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Further insight into the phenotype associated with a mutation in theORC6gene, causing Meier-Gorlin syndrome 3

(2015) Stavit Allon Shalev et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular genetics of human primary microcephaly: an overview

(2015) Muhammad Faheem et al.   BMC Medical Genomics

KIF11mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

(2015) Huan Hu et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Binding of STIL to Plk4 activates kinase activity to promote centriole assembly

(2015) Tyler C. Moyer et al.   JOURNAL OF CELL BIOLOGY

S-phase duration is the main target of cell cycle regulation in neural progenitors of developing ferret neocortex

(2015) Miguel Turrero García et al.   JOURNAL OF COMPARATIVE NEUROLOGY

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

(2015) Muhammad Farooq et al.   JOURNAL OF HUMAN GENETICS

Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms

(2015) Fei-Feng Li et al.   METABOLIC BRAIN DISEASE

Primordial dwarfism: overview of clinical and genetic aspects

(2015) Preeti Khetarpal et al.   MOLECULAR GENETICS AND GENOMICS

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

(2015) Vafa Alakbarzade et al.   NATURE GENETICS

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

(2015) Alicia Guemez-Gamboa et al.   NATURE GENETICS

Centrosome function and assembly in animal cells

(2015) Paul T. Conduit et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Refining the phenotype associated with CASC5 mutation

(2015) Abdelkrim Saadi et al.   NEUROGENETICS

Cep169, a Novel Microtubule Plus-End-Tracking Centrosomal Protein, Binds to CDK5RAP2 and Regulates Microtubule Stability

(2015) Yusuke Mori et al.   PLoS One

The Centrosome and Its Duplication Cycle

(2015) Jingyan Fu et al.   Cold Spring Harbor Perspectives in Biology

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination

(2015) Marko Marjanović et al.   Nature Communications

STIL binding to Polo-box 3 of PLK4 regulates centriole duplication

(2015) Christian Arquint et al.   eLife

Plk4-dependent phosphorylation of STIL is required for centriole duplication

(2015) A.-S. Kratz et al.   Biology Open

Mutations inCDK5RAP2cause Seckel syndrome

(2015) Gökhan Yigit et al.   Molecular Genetics & Genomic Medicine

Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature

(2014) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation

(2014) Chun-Ting Chen et al.   CURRENT BIOLOGY

Plk4 Phosphorylates Ana2 to Trigger Sas6 Recruitment and Procentriole Formation

(2014) Nikola S. Dzhindzhev et al.   CURRENT BIOLOGY

STIL Microcephaly Mutations Interfere with APC/C-Mediated Degradation and Cause Centriole Amplification

(2014) Christian Arquint et al.   CURRENT BIOLOGY

Neural progenitors, neurogenesis and the evolution of the neocortex

(2014) M. Florio et al.   DEVELOPMENT

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

(2014) Naseebullah Kakar et al.   HUMAN GENETICS

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

(2014) Ghayda M. Mirzaa et al.   HUMAN GENETICS

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

(2014) Muzammil A. Khan et al.   HUMAN MOLECULAR GENETICS

The deubiquitinase USP28 controls intestinal homeostasis and promotes colorectal cancer

(2014) Markus E. Diefenbacher et al.   JOURNAL OF CLINICAL INVESTIGATION

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

(2014) Felicity Payne et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutation inPLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

(2014) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

(2014) Carol-Anne Martin et al.   NATURE GENETICS

Cortical neurogenesis in the absence of centrioles

(2014) Ryan Insolera et al.   NATURE NEUROSCIENCE

Molecular basis for unidirectional scaffold switching of human Plk4 in centriole biogenesis

(2014) Suk-Youl Park et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The centriole duplication cycle

(2014) E. N. F rat-Karalar et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Small organelle, big responsibility: the role of centrosomes in development and disease

(2014) P. L. Chavali et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Pericentriolar material structure and dynamics

(2014) J. B. Woodruff et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo

(2014) H. Bazzi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Conserved TCP domain of Sas-4/CPAP is essential for pericentriolar material tethering during centrosome biogenesis

(2014) X. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size

(2014) Jian-Fu Chen et al.   Nature Communications

Direct interaction of Plk4 with STIL ensures formation of a single procentriole per parental centriole

(2014) Midori Ohta et al.   Nature Communications

Mitotic Spindle Asymmetry: A Wnt/PCP-Regulated Mechanism Generating Asymmetrical Division in Cortical Precursors

(2014) Delphine Delaunay et al.   Cell Reports

The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation

(2014) Shauna L Houlihan et al.   eLife

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused byKIF11Mutations

(2014) Johane M. Robitaille et al.   JAMA Ophthalmology

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

(2013) Christopher A. Tan et al.   BRAIN & DEVELOPMENT

Asymmetric Inheritance of Centrosome-Associated Primary Cilium Membrane Directs Ciliogenesis after Cell Division

(2013) Judith T.M.L. Paridaen et al.   CELL

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly

(2013) Yu-Chih Lin et al.   EMBO JOURNAL

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

(2013) Gabriela E Jones et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

(2013) Ruthann B. Pfau et al.   European Journal of Medical Genetics

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

(2013) Salma Awad et al.   HUMAN MOLECULAR GENETICS

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

(2013) Muhammad S. Hussain et al.   HUMAN MOLECULAR GENETICS

Augmin-dependent microtubule nucleation at microtubule walls in the spindle

(2013) Tomoko Kamasaki et al.   JOURNAL OF CELL BIOLOGY

PLP inhibits the activity of interphase centrosomes to ensure their proper segregation in stem cells

(2013) Dorothy A. Lerit et al.   JOURNAL OF CELL BIOLOGY

Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication

(2013) K. F. Sonnen et al.   JOURNAL OF CELL SCIENCE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

The microcephaly protein Asp regulates neuroepithelium morphogenesis by controlling the spatial distribution of myosin II

(2013) Maria A. Rujano et al.   NATURE CELL BIOLOGY

Centrosome amplification causes microcephaly

(2013) Véronique Marthiens et al.   NATURE CELL BIOLOGY

Maintaining genome stability in the nervous system

(2013) Peter J McKinnon   NATURE NEUROSCIENCE

Precursor Diversity and Complexity of Lineage Relationships in the Outer Subventricular Zone of the Primate

(2013) Marion Betizeau et al.   NEURON

Shaping Our Minds: Stem and Progenitor Cell Diversity in the Mammalian Neocortex

(2013) Santos J. Franco et al.   NEURON

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

(2013) Lina Issa et al.   Orphanet Journal of Rare Diseases

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination

(2013) Kohei Fujikura et al.   PLoS One

Hierarchical recruitment of Plk4 and regulation of centriole biogenesis by two centrosomal scaffolds, Cep192 and Cep152

(2013) T.-S. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural Analysis of the G-Box Domain of the Microcephaly Protein CPAP Suggests a Role in Centriole Architecture

(2013) Georgios N. Hatzopoulos et al.   STRUCTURE

Amplification of progenitors in the mammalian telencephalon includes a new radial glial cell type

(2013) Gregor-Alexander Pilz et al.   Nature Communications

Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression

(2013) C. Novorol et al.   Open Biology

Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly

(2013) Matthew A Cottee et al.   eLife

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

(2012) Pia Ostergaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

(2012) Muhammad Sajid Hussain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

(2012) Sima Kheradmand Kia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

(2012) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel nonsenseCDK5RAP2mutation in a Somali child with primary microcephaly and sensorineural hearing loss

(2012) Alistair T. Pagnamenta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation

(2012) Yawei J. Yang et al.   CELL

A distinct response to endogenous DNA damage in the development of Nbs1-deficient cortical neurons

(2012) Rui Li et al.   CELL RESEARCH

Investigation of primary microcephaly in Bushehr province of Iran: novelSTILand ASPMmutations

(2012) E Papari et al.   CLINICAL GENETICS

Genetic heterogeneity in Pakistani microcephaly families

(2012) M Sajid Hussain et al.   CLINICAL GENETICS

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

(2012) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

(2012) A. Genin et al.   HUMAN MOLECULAR GENETICS

WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression

(2012) M. A. Bogoyevitch et al.   JOURNAL OF CELL SCIENCE

Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

(2012) Andrew Dauber et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A telomere-dependent DNA damage checkpoint induced by prolonged mitotic arrest

(2012) Makoto T Hayashi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly

(2012) Ayse Guven et al.   NEUROGENETICS

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

Cell cycle- and DNA repair pathway-specific effects of apoptosis on tumor suppression

(2012) S. S. Foster et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Centrosome in Cells and Organisms

(2012) M. Bornens   SCIENCE

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

(2012) Tomoo Ogi et al.   PLoS Genetics

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

(2011) Fowzan S. Alkuraya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The smallest teeth in the world are caused by mutations in the PCNT gene

(2011) Piranit Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

(2011) David R. Murdock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

(2011) V Bhat et al.   CLINICAL GENETICS

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly

(2011) Yoshiyuki Matsumoto et al.   DNA REPAIR

The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation

(2011) Chieh-Ju C Tang et al.   EMBO JOURNAL

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

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

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

A primary microcephaly protein complex forms a ring around parental centrioles

(2011) Joo-Hee Sir et al.   NATURE GENETICS

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mouse B-Type Lamins Are Required for Proper Organogenesis But Not by Embryonic Stem Cells

(2011) Y. Kim et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Structures of SAS-6 Suggest Its Organization in Centrioles

(2011) M. van Breugel et al.   SCIENCE

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

(2011) Yoko Arai et al.   Nature Communications

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

(2010) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis

(2010) Julie Higgins et al.   BMC CELL BIOLOGY

A Role for Intermediate Radial Glia in the Tangential Expansion of the Mammalian Cerebral Cortex

(2010) Isabel Reillo et al.   CEREBRAL CORTEX

Prolonged Prometaphase Blocks Daughter Cell Proliferation Despite Normal Completion of Mitosis

(2010) Yumi Uetake et al.   CURRENT BIOLOGY

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

(2010) S. B. Lizarraga et al.   DEVELOPMENT

CDK5RAP2 Regulates Centriole Engagement and Cohesion in Mice

(2010) Jose A. Barrera et al.   DEVELOPMENTAL CELL

Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome

(2010) Onur Cizmecioglu et al.   JOURNAL OF CELL BIOLOGY

Polo-like kinase 4 kinase activity limits centrosome overduplication by autoregulating its own stability

(2010) Andrew J. Holland et al.   JOURNAL OF CELL BIOLOGY

Cep152 interacts with Plk4 and is required for centriole duplication

(2010) Emily M. Hatch et al.   JOURNAL OF CELL BIOLOGY

Stepwise evolution of the centriole-assembly pathway

(2010) Z. Carvalho-Santos et al.   JOURNAL OF CELL SCIENCE

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

(2010) H. Darvish et al.   JOURNAL OF MEDICAL GENETICS

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Neurogenic radial glia in the outer subventricular zone of human neocortex

(2010) David V. Hansen et al.   NATURE

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

WDR62 is associated with the spindle pole and is mutated in human microcephaly

(2010) Adeline K Nicholas et al.   NATURE GENETICS

OSVZ progenitors of human and ferret neocortex are epithelial-like and expand by integrin signaling

(2010) Simone A Fietz et al.   NATURE NEUROSCIENCE

Neural Progenitor Nuclei IN Motion

(2010) Elena Taverna et al.   NEURON

Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency

(2010) C. Coffinier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

(2010) J. N. Pulvers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple Roles of BRIT1/MCPH1 in DNA Damage Response, DNA Repair, and Cancer Suppression

(2010) Shiaw-Yih Lin et al.   YONSEI MEDICAL JOURNAL

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

(2009) Arun Kumar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound heterozygous ASPM mutations in Pakistani MCPH families

(2009) Farooq Muhammad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Centrioles, Centrosomes, and Cilia in Health and Disease

(2009) Erich A. Nigg et al.   CELL

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

Intermediate Neuronal Progenitors (Basal Progenitors) Produce Pyramidal–Projection Neurons for All Layers of Cerebral Cortex

(2009) Tom Kowalczyk et al.   CEREBRAL CORTEX

Apical/Basal Spindle Orientation Is Required for Neuroblast Homeostasis and Neuronal Differentiation in Drosophila

(2009) Clemens Cabernard et al.   DEVELOPMENTAL CELL

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

(2009) Abdelkrim Saadi et al.   European Journal of Medical Genetics

Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain

(2009) Frederico A.C. Azevedo et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

(2009) M. Willems et al.   JOURNAL OF MEDICAL GENETICS

Asymmetric centrosome inheritance maintains neural progenitors in the neocortex

(2009) Xiaoqun Wang et al.   NATURE

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

(2009) S. Passemard et al.   NEUROLOGY

Forced G1-phase reduction alters mode of division, neuron number, and laminar phenotype in the cerebral cortex

(2009) L.-J. Pilaz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

(2008) Julie Desir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lis1–Nde1-dependent neuronal fate control determines cerebral cortical size and lamination

(2008) Ashley S. Pawlisz et al.   HUMAN MOLECULAR GENETICS

Augmin: a protein complex required for centrosome-independent microtubule generation within the spindle

(2008) Gohta Goshima et al.   JOURNAL OF CELL BIOLOGY

The molecular landscape of ASPM mutations in primary microcephaly

(2008) A K Nicholas et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE