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Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Adenosine Triphosphatases
Concept	Sodium-Potassium-Exchanging ATPase
Concept	RNA, Viral
Concept	RNA Splicing
Concept	RNA
Concept	RNA Polymerase II
Concept	RNA Splice Sites
Concept	RNA Interference
Concept	RNA-Binding Proteins
Concept	Cyclin-Dependent Kinase Inhibitor p16
Concept	RNA, Messenger
Concept	Cyclin-Dependent Kinases
Concept	DEAD-box RNA Helicases
Concept	RNA, Small Interfering
Concept	RNA, Small Nuclear
Concept	Cyclin-Dependent Kinase 5
Academic Article	Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article	A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Academic Article	Truncation of NHEJ1 in a patient with polymicrogyria.
Academic Article	The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Academic Article	Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Academic Article	Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
Academic Article	Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Academic Article	Expanding CEP290 mutational spectrum in ciliopathies.
Academic Article	Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Academic Article	14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Academic Article	Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Academic Article	Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Academic Article	CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Academic Article	G protein-coupled receptor-dependent development of human frontal cortex.
Academic Article	Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
Academic Article	Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Academic Article	Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Academic Article	Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article	Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Academic Article	Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Academic Article	Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Academic Article	Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Academic Article	Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate.
Academic Article	Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Academic Article	Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
Academic Article	Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Academic Article	Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
Academic Article	Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article	Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Academic Article	MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article	Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Academic Article	ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Academic Article	De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Academic Article	Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Academic Article	ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

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ATPase