Dissecting the Genetic and Etiological Causes of Primary Microcephaly
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Dissecting the Genetic and Etiological Causes of Primary Microcephaly
Authors
Keywords
-
Journal
Frontiers in Neurology
Volume 11, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2020-10-15
DOI
10.3389/fneur.2020.570830
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
- (2020) Vincent Picher-Martel et al. BMC Neurology
- Cenpj regulates cilia disassembly and neurogenesis in the developing mouse cortex
- (2019) Wenyu Ding et al. JOURNAL OF NEUROSCIENCE
- Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death
- (2019) Ambrosia J Simmons et al. HUMAN MOLECULAR GENETICS
- Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish
- (2019) Yonatan Perez et al. BRAIN
- Breaking the Y
- (2019) Guillaume Holzer et al. PLoS Genetics
- A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation and epilepsy
- (2019) Cristina Rodríguez et al. JOURNAL OF NEUROCHEMISTRY
- Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly
- (2019) Elodie M. Richard et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
- (2019) Sarah Duerinckx et al. HUMAN MUTATION
- High mobility group nucleosomal binding domain 2 protects against microcephaly by maintaining global chromatin accessibility during corticogenesis
- (2019) Xue-Ling Gao et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing
- (2019) Tao Chen et al. PLoS Genetics
- Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants
- (2019) John Snedeker et al. PLoS Genetics
- Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report
- (2019) You Gyoung Yi et al. Frontiers in Pediatrics
- The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development
- (2019) Belal Shohayeb et al. HUMAN MOLECULAR GENETICS
- Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
- (2018) Ian T. Fiddes et al. CELL
- 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
- Autosomal recessive primary microcephaly due to ASPM mutations: An update
- (2018) Pascaline Létard et al. HUMAN MUTATION
- Centrobin controls primary ciliogenesis in vertebrates
- (2018) Yetunde Adesanya Ogungbenro et al. JOURNAL OF CELL BIOLOGY
- Dynein–Dynactin–NuMA clusters generate cortical spindle-pulling forces as a multi-arm ensemble
- (2018) Masako Okumura et al. eLife
- Genomic and phenotypic delineation of congenital microcephaly
- (2018) Ranad Shaheen et al. GENETICS IN MEDICINE
- Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
- (2018) Daniela A. Braun et al. JOURNAL OF CLINICAL INVESTIGATION
- Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
- (2018) Tamar Harel et al. NEUROGENETICS
- ASPM promotes prostate cancer stemness and progression by augmenting Wnt−Dvl-3−β-catenin signaling
- (2018) Vincent C. Pai et al. ONCOGENE
- The lysolipid transporter Mfsd2a regulates lipogenesis in the developing brain
- (2018) Jia Pei Chan et al. PLOS BIOLOGY
- Rare missense TUBGCP5 gene variant in a patient with primary microcephaly
- (2018) Aleš Maver et al. European Journal of Medical Genetics
- Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype
- (2018) Attya Omer Javed et al. Cell Reports
- 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
- Condensin Regulation of Genome Architecture
- (2017) Vibhuti Rana et al. JOURNAL OF CELLULAR PHYSIOLOGY
- COPB2 suppresses cell proliferation and induces cell cycle arrest in human colon cancer by regulating cell cycle‑related proteins
- (2017) Yan Wang et al. Experimental and Therapeutic Medicine
- Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
- (2017) Miriam S. Reuter et al. JAMA Psychiatry
- 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
- First clinical report of an infant with microcephaly andCASC5mutations
- (2016) Yuri A. Zarate et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
- (2016) Carol-Anne Martin 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
- Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate
- (2016) Divya Jayaraman et al. NEURON
- Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report
- (2016) R. Sato et al. PEDIATRICS
- Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole
- (2016) Yuki Tsuchiya et al. Nature Communications
- ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
- (2016) Rotem Kadir et al. PLoS 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
- Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum
- (2015) Loubna Jouan et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 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
- 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
- Refining the phenotype associated with CASC5 mutation
- (2015) Abdelkrim Saadi et al. NEUROGENETICS
- Integrity of the Pericentriolar Material Is Essential for Maintaining Centriole Association during M Phase
- (2015) Mi Young Seo et al. PLoS One
- The Caenorhabditis elegans protein SAS-5 forms large oligomeric assemblies critical for centriole formation
- (2015) Kacper B Rogala et al. eLife
- Mutations inCDK5RAP2cause Seckel syndrome
- (2015) Gökhan Yigit et al. Molecular Genetics & Genomic Medicine
- A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
- (2014) Shinya Yamamoto et al. CELL
- The Centriolar Protein Bld10/Cep135 Is Required to Establish Centrosome Asymmetry in Drosophila Neuroblasts
- (2014) Priyanka Singh et al. CURRENT BIOLOGY
- 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
- Mechanisms of HsSAS-6 assembly promoting centriole formation in human cells
- (2014) Debora Keller et al. JOURNAL OF CELL BIOLOGY
- KIF14 Binds Tightly to Microtubules and Adopts a Rigor-Like Conformation
- (2014) Kritica Arora et al. JOURNAL OF MOLECULAR BIOLOGY
- Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid
- (2014) Long N. Nguyen et al. NATURE
- Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
- (2014) Carol-Anne Martin et al. NATURE GENETICS
- 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
- A Switch From Canonical to Noncanonical Wnt Signaling Mediates Early Differentiation of Human Neural Stem Cells
- (2014) Nora Bengoa-Vergniory et al. STEM CELLS
- Functional divergence of the brain-size regulating gene MCPH1 during primate evolution and the origin of humans
- (2013) Lei Shi et al. BMC BIOLOGY
- 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
- Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
- (2013) I. Filges et al. CLINICAL GENETICS
- Multiple Mechanisms Contribute to Centriole Separation in C. elegans
- (2013) Gabriela Cabral et al. CURRENT BIOLOGY
- Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
- (2013) Yu-Chih Lin et al. EMBO JOURNAL
- Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation
- (2013) Can Liao 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
- 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
- Citron kinase controls a molecular network required for midbody formation in cytokinesis
- (2013) Z. I. Bassi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- Embryonic stem cells neural differentiation qualifies the role of Wnt/β-Catenin signals in human telencephalic specification and regionalization
- (2013) Camille Nicoleau et al. STEM CELLS
- A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
- (2012) Muhammad Sajid Hussain et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Coordination of Kinase and Phosphatase Activities by Lem4 Enables Nuclear Envelope Reassembly during Mitosis
- (2012) Claudio Asencio et al. CELL
- 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
- Kinetochore KMN network gene CASC5 mutated in primary microcephaly
- (2012) A. Genin et al. HUMAN MOLECULAR GENETICS
- Contrasting roles of condensin I and condensin II in mitotic chromosome formation
- (2012) L. C. Green et al. JOURNAL OF CELL SCIENCE
- 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
- ASPM regulates Wnt signaling pathway activity in the developing brain
- (2011) J. J. Buchman et al. GENES & DEVELOPMENT
- MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II
- (2011) Daisuke Yamashita et al. JOURNAL OF CELL BIOLOGY
- A primary microcephaly protein complex forms a ring around parental centrioles
- (2011) Joo-Hee Sir et al. NATURE GENETICS
- Cdk6-Dependent Regulation of G1 Length Controls Adult Neurogenesis
- (2011) Pierre Beukelaers et al. STEM CELLS
- Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
- (2010) Duane L. Guernsey et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1
- (2010) Muhammad Farooq et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
- (2010) Veena Singla et al. DEVELOPMENTAL CELL
- CDK5RAP2 Regulates Centriole Engagement and Cohesion in Mice
- (2010) Jose A. Barrera et al. DEVELOPMENTAL CELL
- 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
- Adaptive Evolution of Four Microcephaly Genes and the Evolution of Brain Size in Anthropoid Primates
- (2010) S. H. Montgomery et al. MOLECULAR BIOLOGY AND EVOLUTION
- 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
- Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly
- (2009) Arun Kumar et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Control of Centriole Length by CPAP and CP110
- (2009) Thorsten I. Schmidt et al. CURRENT BIOLOGY
- hPOC5 is a centrin-binding protein required for assembly of full-length centrioles
- (2009) Juliette Azimzadeh et al. JOURNAL OF CELL BIOLOGY
- BRIT1/MCPH1 links chromatin remodelling to DNA damage response
- (2009) Guang Peng et al. NATURE CELL BIOLOGY
- NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Gα
- (2009) Monique van der Voet et al. NATURE CELL BIOLOGY
- Plk1-Dependent Recruitment of γ-Tubulin Complexes to Mitotic Centrosomes Involves Multiple PCM Components
- (2009) Laurence Haren et al. PLoS One
- Endogenous Wnt Signaling Maintains Neural Progenitor Cell Potency
- (2009) Eric M. Wexler et al. STEM CELLS
- Drosophila asterless and Vertebrate Cep152 Are Orthologs Essential for Centriole Duplication
- (2008) S. Blachon et al. GENETICS
- The molecular landscape of ASPM mutations in primary microcephaly
- (2008) A K Nicholas et al. JOURNAL OF MEDICAL GENETICS
- New Regulators of Wnt/ -Catenin Signaling Revealed by Integrative Molecular Screening
- (2008) M. B. Major et al. Science Signaling
- CDK5RAP2 Is a Pericentriolar Protein That Functions in Centrosomal Attachment of the γ-Tubulin Ring Complex
- (2007) Ka-Wing Fong et al. MOLECULAR BIOLOGY OF THE CELL
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now