Accès ouvert
2026
preprint
OpenAlex
Bruce A. Hamilton, Dorothy Concepcion, Max W. Chang, Christopher W. Benner et autres
Abstract Mouse meander tail ( mea ) mutations produce kinked tails and selective malformation of the cerebellum anterior compartment. The anterior cerebellum defects are cell autonomous with respect to granule cell precursors, but the molecular basis has not been known. Myb-like, SWIRM, …
us, ca
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Accès ouvert
2025
article
OpenAlex
Corinne A. McCoy, Dorothy Concepcion, Mark G. Mezody, Raquel Z. Lara et autres
Tubby-like protein 3 (TULP3) regulates receptor trafficking in primary cilia and antagonizes SHH signaling. Tulp3 knockout mice are embryonic lethal with developmental abnormalities in multiple organs, while tissue-specific knockouts and viable missense alleles cause polycystic kidney disease. Human patients with TULP3 mutations …
us
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Accès ouvert
2025
article
OpenAlex
Dorothy Concepcion, Chunyang Liang, Daniel Kim, Bruce A. Hamilton
Genetic variants that introduce a premature termination codon (PTC) are often assumed equivalent and functionally null. Exceptions depend on the specific architectures of the affected mRNA and protein. Here we address phenotypic differences among early truncating variants of mouse Zfp423, whose phenotypes …
us
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Accès ouvert
2025
preprint
OpenAlex
Dorothy Concepcion, Chunyang Liang, Daniel Kim, Bruce A. Hamilton
ABSTRACT Genetic variants that introduce a premature termination codon (PTC) are often assumed equivalent and functionally null. Exceptions depend on the specific architectures of the affected mRNA and protein. Here we address phenotypic differences among early truncating variants of mouse Zfp423 , …
us, it
(code pays fourni par la source)
Accès ouvert
2025
preprint
OpenAlex
Corinne A. McCoy, Dorothy Concepcion, Mark G. Mezody, Raquel Z. Lara et autres
ABSTRACT Tubby-like protein 3 (TULP3) regulates receptor trafficking in primary cilia and antagonizes SHH signaling. Tulp3 knockout mice are embryonic lethal with developmental abnormalities in multiple organs, while tissue-specific knockouts and viable missense alleles cause polycystic kidney disease. Human patients with TULP3 …
us
(code pays fourni par la source)
Accès ouvert
2021
article
OpenAlex
Kevin D. Ross, Jie Ren, Ruilin Zhang, C. Neil et autres
How and to what degree gene duplication events create regulatory innovation, redundancy, or neofunctionalization remain important questions in animal evolution and comparative genetics. Ankfn1 genes are single copy in most invertebrates, partially duplicated in jawed vertebrates, and only the derived copy retained …
us
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Accès ouvert
2021
preprint
OpenAlex
Kevin D. Ross, Jie Ren, Ruilin Zhang, C. Neil et autres
Abstract How and to what degree gene duplication events create regulatory innovation, redundancy, or neofunctionalization remain important questions in animal evolution and comparative genetics. Ankfn1 genes are single copy in most invertebrates, partially duplicated in jawed vertebrates, and only the derived copy …
us
(code pays fourni par la source)
Accès ouvert
2021
article
OpenAlex
Vytas A. Bankaitis, Jorge Daniel Cortese, Scott E. Phillips, Bruce A. Hamilton et autres
Phosphatidylinositol transfer proteins (PITPs) regulate the interface between lipid metabolism and cellular functions. We now report that ablation of PITP alpha function leads to aponecrotic spinocerebellar disease, hypoglycemia, and intestinal and hepatic steatosis in mice. The data indicate that hypoglycemia is in …
us
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Accès ouvert
2021
preprint
OpenAlex
Jesús Esteban‐Hernández, Kevin D. Ross, Bruce A. Hamilton
ABSTRACT The yeast two-hybrid (Y2H) assay has long been used to identify new protein-protein interaction pairs and to compare relative interaction strengths. Traditional Y2H formats may be limited, however, by use of constitutive strong promoters if expressed proteins have toxic effects or …
us
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Accès ouvert
2020
article
OpenAlex
Wendy A. Alcaraz, Zheng Liu, Phoebe Valdes, Edward Chen et autres
Abstract Zfp423 encodes a transcriptional regulatory protein that interacts with canonical signaling and lineage pathways. Mutations in mouse Zfp423 or its human ortholog ZNF423 are associated with a range of developmental abnormalities reminiscent of ciliopathies, including cerebellar vermis hypoplasia and other midline …
us
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Accès ouvert
2020
article
OpenAlex
Ojas Deshpande, Raquel Z. Lara, Oliver R. Zhang, Dorothy Concepcion et autres
Interpreting rare variants remains a challenge in personal genomics, especially for disorders with several causal genes and for genes that cause multiple disorders. ZNF423 encodes a transcriptional regulatory protein that intersects several developmental pathways. ZNF423 has been implicated in rare neurodevelopmental disorders, …
us
(code pays fourni par la source)
Accès ouvert
2020
preprint
OpenAlex
Wendy A. Alcaraz, Zheng Liu, Phoebe Valdes, Edward Chen et autres
ABSTRACT Zfp423 encodes a transcriptional regulatory protein that interacts with canonical signaling and lineage pathways. Mutations in mouse Zfp423 or its human ortholog ZNF423 are associated with a range of developmental abnormalities reminiscent of ciliopathies, including cerebellar vermis hypoplasia and other midline …
us
(code pays fourni par la source)