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

Does Functional Specialization of Ribosomes Really Exist?

(2019) Max B Ferretti et al.   RNA

Cellular signalling by primary cilia in development, organ function and disease

(2019) Zeinab Anvarian et al.   Nature Reviews Nephrology

Astrogliogenesis in human fetal brain: complex spatiotemporal immunoreactivity patterns of GFAP , S100, AQP 4 and YKL ‐40

(2019) Camilla Bjørnbak Holst et al.   JOURNAL OF ANATOMY

Cilia in hereditary cerebral anomalies

(2019) Sophie Thomas et al.   BIOLOGY OF THE CELL

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

(2019) Wei Zhang et al.   Nature Communications

The Genetics of Primary Microcephaly

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

Same but different: pleiotropy in centrosome-related microcephaly

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

A novel population of Hopx-dependent basal radial glial cells in the developing mouse neocortex

(2018) Samir Vaid et al.   DEVELOPMENT

Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies

(2018) Michal Hetman et al.   JOURNAL OF NEUROCHEMISTRY

Global interactomics uncovers extensive organellar targeting by Zika virus

(2018) Etienne Coyaud et al.   MOLECULAR & CELLULAR PROTEOMICS

Sublaminar organization of the human subplate: developmental changes in the distribution of neurons, glia, growing axons and extracellular matrix

(2018) Ivica Kostović et al.   JOURNAL OF ANATOMY

Developmental protein kinase C hyper-activation results in microcephaly and behavioral abnormalities in zebrafish

(2018) Taian Liu et al.   Translational Psychiatry

Molecular cloning and characterization of the genes encoding the proteins of Zika virus

(2017) Wangheng Hou et al.   GENE

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

(2017) Loïc Broix et al.   HUMAN MOLECULAR GENETICS

IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases

(2017) Fabian Marc Schmid et al.   JOURNAL OF CELL BIOLOGY

Nol12 is a multifunctional RNA binding protein at the nexus of RNA and DNA metabolism

(2017) Daniel D. Scott et al.   NUCLEIC ACIDS RESEARCH

Mechanisms of ciliogenesis suppression in dividing cells

(2016) Hidemasa Goto et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

CPAP promotes timely cilium disassembly to maintain neural progenitor pool

(2016) Elke Gabriel et al.   EMBO JOURNAL

A Molecular Titration System Coordinates Ribosomal Protein Gene Transcription with Ribosomal RNA Synthesis

(2016) Benjamin Albert et al.   MOLECULAR CELL

Transformation of the Radial Glia Scaffold Demarcates Two Stages of Human Cerebral Cortex Development

(2016) Tomasz J. Nowakowski et al.   NEURON

Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stages

(2016) David J. Doobin et al.   Nature Communications

Neural progenitor cells and their role in the development and evolutionary expansion of the neocortex

(2016) Takashi Namba et al.   Wiley Interdisciplinary Reviews-Developmental Biology

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

(2015) Julien Thevenon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SSEA-4 and YKL-40 positive progenitor subtypes in the subventricular zone of developing human neocortex

(2015) Christian B. Brøchner et al.   GLIA

Centrosome function and assembly in animal cells

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

Noncoding RNAs in eukaryotic ribosome biogenesis and function

(2015) Denis L J Lafontaine   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Fast and sensitive detection of indels induced by precise gene targeting

(2015) Zhang Yang et al.   NUCLEIC ACIDS RESEARCH

Nek2 activation of Kif24 ensures cilium disassembly during the cell cycle

(2015) Sehyun Kim et al.   Nature Communications

Noncoding RNAs in eukaryotic ribosome biogenesis and function

(2015) Denis L J Lafontaine   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Diverse diseases from a ubiquitous process: The ribosomopathy paradox

(2014) Joy Armistead et al.   FEBS LETTERS

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

(2014) S. S. Brooks et al.   GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

An overview of pre-ribosomal RNA processing in eukaryotes

(2014) Anthony K. Henras et al.   Wiley Interdisciplinary Reviews-RNA

Growth control and ribosomopathies

(2013) Teng Teng et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The Complexity of Human Ribosome Biogenesis Revealed by Systematic Nucleolar Screening of Pre-rRNA Processing Factors

(2013) Lionel Tafforeau et al.   MOLECULAR CELL

A systematic genome-wide analysis of zebrafish protein-coding gene function

(2013) Ross N. W. Kettleborough et al.   NATURE

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

An RNA-Binding Complex Involved in Ribosome Biogenesis Contains a Protein with Homology to tRNA CCA-Adding Enzyme

(2013) Jinzhong Lin et al.   PLOS BIOLOGY

Mapping the cleavage sites on mammalian pre-rRNAs: Where do we stand?

(2012) Sahra-Taylor Mullineux et al.   BIOCHIMIE

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

(2012) Yawei J. Yang et al.   CELL

CDK5RAP2 Expression During Murine and Human Brain Development Correlates with Pathology in Primary Autosomal Recessive Microcephaly

(2012) Lina Issa et al.   CEREBRAL CORTEX

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Serum Starvation Induced Cell Cycle Synchronization Facilitates Human Somatic Cells Reprogramming

(2012) Mengfei Chen et al.   PLoS One

Genetic causes of microcephaly and lessons for neuronal development

(2012) Edward C. Gilmore et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Centriolar Kinesin Kif24 Interacts with CP110 to Remodel Microtubules and Regulate Ciliogenesis

(2011) Tetsuo Kobayashi et al.   CELL

Development and Evolution of the Human Neocortex

(2011) Jan H. Lui et al.   CELL

Ciliary transition zone activation of phosphorylated Tctex-1 controls ciliary resorption, S-phase entry and fate of neural progenitors

(2011) Aiqun Li et al.   NATURE CELL BIOLOGY

Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

(2011) Sehyun Kim et al.   NATURE CELL BIOLOGY

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

(2011) Saqib Mahmood et al.   Orphanet Journal of Rare Diseases

Pathophysiology and management of inherited bone marrow failure syndromes

(2010) Akiko Shimamura et al.   BLOOD REVIEWS

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

(2010) Kaya Bilgüvar et al.   NATURE

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

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols