Lisa Pavinato
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View article: Good practices in hPSC handling v1
Good practices in hPSC handling v1 Open
This protocol collection provides a comprehensive and practical guide for the maintenance, passaging, freezing, and thawing of human pluripotent stem cells (hPSCs). Designed to support reproducibility and transferability, especially among …
View article: Manual picking and passaging of hPSC colonies v1
Manual picking and passaging of hPSC colonies v1 Open
This protocol describes picking and expansion of many colonies at once (manual clump passaging) and the picking of single colony (positive selection).
View article: Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses
Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses Open
View article: Survival factors for hPSC growth v1
Survival factors for hPSC growth v1 Open
This protocol describes the preparation and supplementation of hPSC culture media with survival factors.
View article: A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets
A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets Open
Autism spectrum disorder (ASD) is a complex multifactorial neurodevelopmental disorder. Despite extensive research involving genome-wide association studies, copy number variant (CNV) testing, and genome sequencing, the comprehensive genet…
View article: RICTOR variants are associated with neurodevelopmental disorders
RICTOR variants are associated with neurodevelopmental disorders Open
View article: Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder Open
View article: Skipping of Exon 20 in <i>EP300</i> : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations
Skipping of Exon 20 in <i>EP300</i> : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations Open
Rubinstein–Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs…
View article: DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity Open
Analysis of genomic DNA methylation by generating epigenetic signature profiles (episignatures) is increasingly being implemented in genetic diagnosis. Here we report our experience using episignature analysis to resolve both uncomplicated…
View article: Identification of the DNA methylation signature of Mowat-Wilson syndrome
Identification of the DNA methylation signature of Mowat-Wilson syndrome Open
View article: E8 media production v1
E8 media production v1 Open
This protocol describes the procedure to prepare E8 Supplement and complete E8 medium for hPSC maintenance culture.
View article: Single cell passaging of hPSC v1
Single cell passaging of hPSC v1 Open
This protocol describes single cell passaging of hPSC using enzymatic dissociation reagents.
View article: Reference pictures of hPSC cultured in defined conditions v1
Reference pictures of hPSC cultured in defined conditions v1 Open
Collection of reference images of hPSCs in different culture conditions and at different timepoints.
View article: Freezing of hPSC v1
Freezing of hPSC v1 Open
This protocol describes cryopreservation of hPSC as clumps or single cells.
View article: Thawing of cryopreserved hPSC v1
Thawing of cryopreserved hPSC v1 Open
This protocol describes thawing of hPSC.
View article: Coating of tissue Culture Vesselsfor hPSC v1
Coating of tissue Culture Vesselsfor hPSC v1 Open
This protocol describes procedures to coat culture vessels for the maintenance of hPSC using different extracellular matrices.
View article: Non-enzymatic passaging of hPSC v1
Non-enzymatic passaging of hPSC v1 Open
This protocol describes the procedure to passage hPSC culture using enzyme-free reagents.
View article: Maintenance of hPSC v1
Maintenance of hPSC v1 Open
This protocol describes maintenance of established hPSC lines in expansion media on matrix coated culture vessels.
View article: Table of Contents
Table of Contents Open
View article: Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder Open
View article: Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot Open
Fatty acid elongase ELOVL5 is part of a protein family of multipass transmembrane proteins that reside in the endoplasmic reticulum where they regulate long-chain fatty acid elongation. A missense variant (c.689G>T p.Gly230Val) in ELOVL5 c…
View article: Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes Open
View article: Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot Open
Fatty acid elongase ELOVL5 is part of a protein family of multipass transmembrane proteins that reside in the endoplasmic reticulum where they regulate long-chain fatty acid elongation. A missense variant (c.689G > T p.Gly230Val) in ELOVL5…
View article: Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes
Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes Open
Despite major technical and genetic advances, more than half of the neurodevelopmental disorders (NDDs) cases remain undiagnosed. We explored the frequency of non-random XCI in the mothers of male patients and in affected females from a cl…
View article: Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism Open
View article: p140Cap Regulates the Composition and Localization of the NMDAR Complex in Synaptic Lipid Rafts
p140Cap Regulates the Composition and Localization of the NMDAR Complex in Synaptic Lipid Rafts Open
The NMDARs are key players in both physiological and pathologic synaptic plasticity because of their involvement in many aspects of neuronal transmission as well as learning and memory. The contribution in these events of different types o…
View article: <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD Open
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neurona…
View article: The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders Open
In the human brain, long non-coding RNAs (lncRNAs) are widely expressed in an exquisitely temporally and spatially regulated manner, thus suggesting their contribution to normal brain development and their probable involvement in the molec…
View article: De novo truncating <i>NOVA2</i> variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
De novo truncating <i>NOVA2</i> variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes Open
Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing fac…
View article: Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases Open