173 Result(s)
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Article
**u Tao
Animal Genetics and Genomics
Biomedicine, general
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Article
Identification of murine loci associated with susceptibility to chronic experimental autoimmune encephalomyelitis
B10.RIII mice develop chronic and relapsing experimental autoimmune encephalomyelitis (EAE) after immunization with the myelin basic protein (MBP) peptide 89–101. The disease is associated with the major histocom...
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Mice lacking ornithine–δ–amino–transferase have paradoxical neonatal hypoornithinaemia and retinal degeneration
Deficiency of ornithine–δ–aminotransferase (OAT) in humans causes hyperornithinaemia and gyrate atrophy (GA), a blinding chorioretinal degeneration. Surprisingly, OAT–deficient mice produced by gene targeting ...
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CNTF and psychiatric disorders
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A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma
Congenital (or infantile) fibrosarcoma (CFS) is a malignant tumour of f ibroblasts that occurs in patients aged two years or younger. CFS is unique among human sarcomas in that it has an excellent prognosis an...
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A mouse model for Prader-Willi syndrome imprinting-centre mutations
Imprinting in the 15q11–q13 region involves an ‘imprinting centre’ (IC), map** in part to the promoter and first exon of SNRPN. Deletion of this IC abolishes local paternally derived gene expression and results...
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Multiple kinetic components of exocytosis distinguished by neurotoxin sensitivity
The secretion of synaptic and other vesicles is a complex process involving multiple steps. Many molecular components of the secretory apparatus have been identified, but how they relate to the different stage...
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Human homologue of the Drosophila melanogaster lats tumour suppressor modulates CDC2 activity
We have previously used mosaic flies to screen for tumour suppressors or negative regulators of cell proliferation1. The cellular composition of these flies resembles that of cancer patients who are chimaeric ind...
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Mice deficient of Lats1 develop soft-tissue sarcomas, ovarian tumours and pituitary dysfunction
The lats gene has been identified as a tumour suppressor in Drosophila melanogaster using mosaic screens1. Mosaic flies carrying somatic cells that are mutant for lats develop large tumours in many organs1,2. Th...
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Identification of suppressor genes associated with the chromosome 6-mediated suppressed melanoma cell UACC903(+6) by cDNA microarray
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Isolation of chromosome 6-encoded differentially expressed genes associated with breast cancer cell lines MDA-MB-231 and MDA/H6 by cDNA microarray
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Inhibition of specific mRNA translation–possible mechanism of rapamycin's inhibition of T-cell proliferation
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De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profoun...
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Visual input induces long-term potentiation of develo** retinotectal synapses
Early visual experience is essential in the refinement of develo** neural connections. In vivo whole-cell recording from the tectum of Xenopus tadpoles showed that repetitive dimming-light stimulation applied t...
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Probing ion permeation and gating in a K+ channel with backbone mutations in the selectivity filter
Potassium channels selectively conduct K+ ions across cell membranes, and use diverse mechanisms to control their gating. We studied ion permeation and gating of an inwardly rectifying K+ channel by individually ...
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Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1
Neurofibromatosis type 1 (NF1) is a commonly inherited autosomal dominant disorder. Previous studies indicated that mice homozygous for a null mutation in Nf1 exhibit mid-gestation lethality, whereas heterozygous...
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Role of the chemokine SDF-1 as the meningeal attractant for embryonic cerebellar neurons
Migration of neuronal precursor cells from the external germinal layer (EGL) to the internal granular layer (IGL) is a crucial process in the development of the mammalian cerebellar cortex. These cells make up...
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Differential regulation of synaptic and extra-synaptic NMDA receptors
A variety of processes limit NMDA (N-methyl-D-aspartate) receptor (NMDAR) activity in response to agonist exposure, including rundown—the decline of peak current with repeated, sustained agonist application1,2,3,
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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, m...
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Genomic segmental polymorphisms in inbred mouse strains
By analyzing genomic copy-number differences using high-resolution mouse whole-genome BAC arrays, we uncover substantial differences in regional DNA content between inbred strains of mice. The identification o...
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Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
We previously reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressive ataxia with reduced penetrance. We now report a transgenic mouse model in which the full-length hum...
