Christopher Stoddard
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View article: Identifying key underlying regulatory networks and predicting targets of orphan C/D box <i>SNORD116</i> snoRNAs in Prader–Willi syndrome
Identifying key underlying regulatory networks and predicting targets of orphan C/D box <i>SNORD116</i> snoRNAs in Prader–Willi syndrome Open
Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder characterized by neonatal hypotonia, followed by hyperphagia and obesity. Most PWS cases exhibit megabase-scale deletions of paternally imprinted 15q11-q13 locus. However, s…
View article: Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells
Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells Open
Angelman syndrome (AS) and Prader-Willi syndrome (PWS), two distinct neurodevelopmental disorders, result from loss of expression from imprinted genes in the chromosome 15q11-13 locus most commonly caused by a megabase-scale deletion on ei…
View article: A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction
A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction Open
Excess gene dosage from chromosome 21 (chr21) causes Down syndrome (DS), spanning developmental and acute phenotypes in terminal cell types. Which phenotypes remain amenable to intervention after development is unknown. To address this que…
View article: Identifying key underlying regulatory networks and predicting targets of orphan C/D box<i>SNORD116</i>snoRNAs in Prader-Willi syndrome
Identifying key underlying regulatory networks and predicting targets of orphan C/D box<i>SNORD116</i>snoRNAs in Prader-Willi syndrome Open
Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder characterized principally by initial symptoms of neonatal hypotonia and failure-to-thrive in infancy, followed by hyperphagia and obesity. It is well established that PWS is…
View article: Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells
Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells Open
Angelman Syndrome (AS) and Prader-Willi Syndrome (PWS), two distinct neurodevelopmental disorders, result from loss of expression from imprinted genes in the chromosome 15q11-13 locus most commonly caused by a megabase-scale deletion on ei…
View article: The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons
The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons Open
View article: TET3 epigenetically controls feeding and stress response behaviors via AGRP neurons
TET3 epigenetically controls feeding and stress response behaviors via AGRP neurons Open
The TET family of dioxygenases promote DNA demethylation by oxidizing 5-methylcytosine to 5-hydroxymethylcytosine (5hmC). Hypothalamic agouti-related peptide-expressing (AGRP-expressing) neurons play an essential role in driving feeding, w…
View article: A dynamic<i>in vitro</i>model of Down Syndrome neurogenesis with Trisomy 21 gene dosage correction
A dynamic<i>in vitro</i>model of Down Syndrome neurogenesis with Trisomy 21 gene dosage correction Open
/SUMMARY Excess gene dosage from human chromosome 21 (chr21) causes Down syndrome (DS), spanning developmental as well as acute phenotypes in terminal cell types. Which phenotypes remain amenable to intervention after development is unknow…
View article: The role of<i>UBE3A</i>in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons
The role of<i>UBE3A</i>in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons Open
Chromosome 15q11-q13 duplication syndrome (Dup15q) is a neurodevelopmental disorder caused by maternal duplications of this region. Autism and epilepsy are key features of Dup15q, but affected individuals also exhibit intellectual disabili…
View article: Specific ZNF274 binding interference at <i>SNORD116</i> activates the maternal transcripts in Prader-Willi syndrome neurons
Specific ZNF274 binding interference at <i>SNORD116</i> activates the maternal transcripts in Prader-Willi syndrome neurons Open
Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, developmental delay and hyperphagia/obesity. This disorder is caused by the absence of paternally expressed gene products from chromosome 15q11–q13. We previously demonstr…
View article: Specific ZNF274 binding interference at <i>SNORD116</i> activates the maternal transcripts in Prader-Willi syndrome neurons
Specific ZNF274 binding interference at <i>SNORD116</i> activates the maternal transcripts in Prader-Willi syndrome neurons Open
Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, developmental delay, and hyperphagia/obesity. This disorder is caused by the absence of paternally-expressed gene products from chromosome 15q11-q13. We previously demonst…
View article: Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation
Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation Open
Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder with variable genetic etiologies. Here we focused on understanding the precise molecular pathology of a single clinical variant in DSP, the gene encoding desmoplakin. We initiall…
View article: A bipartite boundary element restricts <i>UBE3A</i> imprinting to mature neurons
A bipartite boundary element restricts <i>UBE3A</i> imprinting to mature neurons Open
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from the maternal allele of UBE3A , a gene encoding an E3 ubiquitin ligase. UBE3A is only expressed from the maternally inherited allele in matur…
View article: Data for: Skeletal Phenotype of the Neuropeptide Y conditional knockout mouse
Data for: Skeletal Phenotype of the Neuropeptide Y conditional knockout mouse Open
Raw data values used for the generation of the graphs in the figures. qPCR data can be supplied upon request to the authors.
View article: Examining the role of the surfactant family member SFTA3 in interneuron specification
Examining the role of the surfactant family member SFTA3 in interneuron specification Open
The transcription factor NKX2.1, expressed at high levels in the medial ganglionic eminence (MGE), is a master regulator of cortical interneuron progenitor development. To identify gene candidates with expression profiles similar to NKX2.1…
View article: BIOLOGICAL SCIENCES: Genetics
BIOLOGICAL SCIENCES: Genetics Open
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from the maternal allele of UBE3A , a gene encoding an E3 ubiquitin ligase. UBE3A is only expressed from the maternally-inherited allele in matur…
View article: Examining the Role of the Surfactant Family Member SFTA3 in Interneuron Specification
Examining the Role of the Surfactant Family Member SFTA3 in Interneuron Specification Open
The transcription factor NKX2.1 , expressed at high levels in the medial ganglionic eminence (MGE), is a master regulator of cortical interneuron progenitor development. To identify gene candidates with expression profiles similar to NKX2.…
View article: Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons
Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons Open
Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, developmental delay and hyperphagia/obesity and is caused by the absence of paternal contribution to chromosome 15q11-q13. Using induced pluripotent stem cell (iPSC) model…
View article: PSMA redirects cell survival signaling from the MAPK to the PI3K-AKT pathways to promote the progression of prostate cancer
PSMA redirects cell survival signaling from the MAPK to the PI3K-AKT pathways to promote the progression of prostate cancer Open
Prostate-specific membrane antigen is both a diagnostic marker and an indicator for personalized therapeutic intervention for cancer patients.