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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation,...
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Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly
ObjectivesMicrocephaly is caused by reduced brain volume and most usually associated with a variety of neurodevelopmental disorders (NDDs). To...
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Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)
Solute carrier family 1 member 4 (SLC1A4), also referred to as Alanine/Serine/Cysteine/Threonine-preferring Transporter 1 (ASCT1), is a...
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Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family
BackgroundPrimary autosomal recessive microcephaly (MCPH) is a rare developmental disorder characterized by cognitive impairment, delayed...
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A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review
Intellectual disability (ID) is a highly heterogeneous disorder, affecting 1–3% of the world’s population, which is associated with a significant...
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Aberrant NAD+ metabolism underlies Zika virus–induced microcephaly
Zika virus (ZIKV) infection during pregnancy can cause microcephaly in newborns, yet the underlying mechanisms remain largely unexplored. Here, we...
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Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly
BackgroundAutosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental and genetically heterogeneous disorder, characterized by small...
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Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
BackgroundSyndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting...
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Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study
BackgroundAutosomal recessive primary microcephaly (MCPH) is a rare genetic disorder that leads to reduced cerebral cortex caused by a mutation in...
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Molecular evolutionary analysis of human primary microcephaly genes
BackgroundThere has been a rapid increase in the brain size relative to body size during mammalian evolutionary history. In particular, the enlarged...
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Inhibiting microcephaly genes as alternative to microtubule targeting agents to treat brain tumors
Medulloblastoma (MB) and gliomas are the most frequent high-grade brain tumors (HGBT) in children and adulthood, respectively. The general treatment...
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Molecular causes of primary microcephaly and related diseases: a report from the UNIA Workshop
The International University of Andalucía (UNIA) Current Trends in Biomedicine Workshop on Molecular Causes of Primary Microcephaly and Related...
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Deletion of ARGLU1 causes global defects in alternative splicing in vivo and mouse cortical malformations primarily via apoptosis
Haploinsufficient mutation in arginine and glutamine-rich protein 1 ( Arglu1 ), a newly identified pre-mRNA splicing regulator, may be linked to neural...
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Kinesin-5 Eg5 is essential for spindle assembly, chromosome stability and organogenesis in development
Chromosome stability relies on bipolar spindle assembly and faithful chromosome segregation during cell division. Kinesin-5 Eg5 is a...
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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes
BackgroundIndividuals with the 2p15p16.1 microdeletion syndrome share a complex phenotype including neurodevelopmental delay, brain malformations,...
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STAMBP is Required for Long-Term Maintenance of Neural Progenitor Cells Derived from hESCs
Mutations in STAMBP have been well-established to cause congenital human microcephaly-capillary malformation (MIC-CAP) syndrome, a rare genetic...
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Embryotoxicity of fluconazole on develo** chick embryos
BackgroundFluconazole is a first-generation triazole used as an antifungal treatment for skin, hair, and nail infections. The study aimed to assess...
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Genetic interaction between PLK1 and downstream MCPH proteins in the control of centrosome asymmetry and cell fate during neural progenitor division
Alteration of centrosome function and dynamics results in major defects during chromosome segregation and is associated with primary autosomal...
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Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family
BackgroundAutosomal Recessive Primary Microcephaly (MCPH) is a rare, neurodevelopmental disorder associated with mild to severe mental retardation....
