Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To elucidate the in vivo function of interleukin-2 (IL-2) we produced transgenic mice with either the human genomic IL-2 gene (hIL-2) or the murine metallothionein-I promoter-human IL-2 fusion gene (MThIL-2). Nine of 12 transgenic mice independently obtained showed motor ataxia (2 mice with hIL-2, and 7 mice with MThIL-2) due to the infiltration of lymphocytes into the cerebellar tissues (Katsuki et al. 1989). In addition to the ataxia shown by both groups of transgenic mice, other features were found with respect to each introduced DNA. The transgenic mice with hIL-2 suffered from alopecia. Lymphocytic infiltrates were found in the skin underlying the hairless regions as well as in the brains. On the other hand, the male transgenic mice with MThIL-2 had atrophic testes. In these male mice, sperm or cells of the later stages of spermatogenesis were depleted in the testes without any apparent signs of an immunological response. These findings suggest that the introduced human IL-2 genes may have the pleiotropic functions of inducing tissue-specific immunological responses in the brain and skin, and of having harmful effects on spermatogenesis.
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PMID:Anomalies in transgenic mice carrying the human interleukin-2 gene. 213 May 38

Effects of thyroid hormone on development of the brain have been documented for over a century. Although in many respects the hypothyroid brain appears morphologically normal, functional impairments include mental retardation, ataxia and spasticity. Keyed by the discovery of nuclear receptors for thyroid hormone that function as transcription factors, recent work has examined the mechanism of thyroid hormone action in brain development. The prediction that gene expression regulated by thyroid hormone is important for mediating brain development has spurred the search for thyroid hormone-responsive genes. Here we review some of the identified genes whose expression patterns correlate with the functional deficits observed in the hypothyroid brain. Recently identified thyroid hormone-responsive genes include synaptotagmin-related gene 1 (Srg1), a putative mediator of synaptic structure and/or activity, and hairless, a transcriptional cofactor that may influence the expression of other thyroid hormone-responsive genes.
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PMID:Thyroid hormone action in neural development. 1100 44

Chronic Bee Paralysis Virus (CBPV), a widespread honey bee RNA virus, causes massive worker bee losses, mostly in strong colonies. Two different syndromes, with paralysis, ataxia and flight incapacity on one hand and black hairless individuals with shortened abdomens on the other, can affect a colony simultaneously. This case report presents two Apis mellifera carnica colonies with symptoms of paralysis and hairless black syndrome in 2019. Via RT-PCR, a highly positive result for CBPV was detected in both samples. Further problems, such as a Nosema infection and Varroa infestation, were present in these colonies. Therapy methods were applied to colony 1 comprising queen replacement, shook swarm method and Varroa control, whereas colony 2 was asphyxiated after queen loss and colony weakening. After therapy, colony 1 was wintered without symptoms. Beekeeping and sanitary measures can save a CBPV-infected colony, while further complications result in total colony loss.
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PMID:Overt Infection with Chronic Bee Paralysis Virus (CBPV) in Two Honey Bee Colonies. 3297 32