140 results on '"Jolly, Lachlan A"'
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2. Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment
3. RNA variant assessment using transactivation and transdifferentiation
4. A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.
5. The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders
6. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
7. Missense variant contribution to USP9X-female syndrome
8. Robust imaging and gene delivery to study human lymphoblastoid cell lines
9. UPF3B Gene and Nonsense-Mediated mRNA Decay in Autism Spectrum Disorders
10. Transactivation of cell lines for functional genomic studies
11. Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines
12. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
13. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
14. La FAM fatale: USP9X in development and disease
15. Protocadherin Mutations in Neurodevelopmental Disorders
16. List of Contributors
17. Vav Proteins in Development of the Brain: A Potential Relationship to the Pathogenesis of Congenital Zika Syndrome?
18. Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells
19. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
20. HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
21. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
22. Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
23. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
24. The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
25. Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability
26. Abnormal Behavior and Cortical Connectivity Deficits in Mice Lacking Usp9x
27. Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development
28. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
29. Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response
30. Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response
31. Abnormal Behavior and Cortical Connectivity Deficits in Mice Lacking Usp9x.
32. PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy
33. Loss of Usp9x disrupts cell adhesion, and components of the Wnt and Notch signaling pathways in neural progenitors
34. Viperin is an important host restriction factor in control of Zika virus infection
35. USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors
36. Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice
37. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
38. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
39. IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
40. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
41. Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase
42. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
43. Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth
44. Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis
45. A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
46. USP9X Enhances the Polarity and Self-Renewal of Embryonic Stem Cell-derived Neural Progenitors
47. The FAM Deubiquitylating Enzyme Localizes to Multiple Points of Protein Trafficking in Epithelia, where It Associates with E-cadherin and β-catenin
48. Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis.
49. The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and beta-catenin.
50. Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
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