Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of these studies was to evaluate the short-term toxicity of theophylline, a compound present in tea and used in a variety of clinical applications. Fourteen-day repeated-dose toxicity studies were conducted in B6C3F1 mice and F344 rats of both sexes. Theophylline was administered in feed (0, 500, 1000, 2000, 4000, and 8000 ppm) or by gavage in corn oil (12.5-twice daily, 25, 50, 50-twice daily, 100, 200, 200-twice daily, and 400 mg/kg). Dosed-feed exposure to theophylline at concentrations up to 8000 ppm induced no significant toxicity except for dose-related uterine hypoplasia in rats. Palatability problems at that level precluded administration of higher concentrations. In the gavage study, 400 mg/kg was acutely toxic for both species, but mice and rats differed in that this same daily dose administered as two separate doses of 200 mg/kg was acutely toxic in rats but not in mice. No dose-related weight gain depression was evident in mice; weight gain was depressed in the majority of dose levels in rats and was pronounced at the higher levels. Clinical signs in mice were squinting and distended testes in males, and in rats, rapid respiration (all doses), squinting, and hunching. Gross necropsies, organ weights, clinical pathology, and pathology identified no target organs in mice, while histopathologic observations in rats suggested heart and stomach as possible target organs. Histopathologic effects in a number of other tissues, including lung, thymus, bone marrow, spleen, and uterus, were considered to reflect agonal changes in treated rats, possibly related to inanition. The results suggest that both species and sex differences exist with respect to sensitivity to theophylline toxicity, with F344 rats being more sensitive than B6C3F1 mice and male rats being more sensitive than female rats.
 ...
PMID:Studies on the short-term toxicity of theophylline in rats and mice. 337 86

Xenopus Strabismus (Stbm) is a negative regulator of the WNT - beta-catenin signaling pathway. Strabismus 1 (STB1/VangL2) and Strabismus 2 (STB2/Vangl1) are human homologues of Xenopus Stbm and Drosophila Stbm/ Van Gogh (Vang) STB1 and STB2 are four-transmembrane-type proteins with Dishevelled-binding motif. STB2 and CASQ2 genes are located on human chromosome 1p13.3-p11 with an interval less than 5 kb. Here, STB1 gene and CASQ1 gene were found to be located on human chromosome 1q21-q23 with an interval of about 210 kb including Nicastrin, COPA, PXF, H326 and PEA15 genes. Exon-intron structure was well conserved between STB1 and STB2 genes. STB1-CASQ1 gene cluster and STB2-CASQ2 gene cluster might be generated due to duplication of ancestral gene cluster, and several genes might be inserted into the STB1-CASQ1 intergenic region during or after gene-cluster duplication. STB1 mRNA was relatively highly expressed in prostate, trachea, thymus, lymph node, placenta, fetal kidney, fetal brain, and fetal lung. In adult brain, STB1 mRNA was more highly expressed in cerebellum, corpus callosum, amygdala, and medulla oblongata. STB1 mRNA was moderately expressed in K-562 (chronic myelogenous leukemia), G-361 (melanoma), and MKN7 (gastric cancer). On the other hand, STB1 mRNA was almost undetectable in several human cancer cell lines, and was down-regulated in 4 out of 14 cases of primary kidney tumors, and in 2 out of 3 cases of primary lung cancer. Loss-of-function mutation of STB1 gene might lead to carcinogenesis through activation of the WNT - beta-catenin signaling pathway.
 ...
PMID:Structure and expression of Strabismus 1 gene on human chromosome 1q21-q23. 1201 99

A 9-month-old infant presented with Horner syndrome. Magnetic resonance imaging of his head and neck was unremarkable, but magnetic resonance imaging of his chest revealed ectopic cervical thymus. The patient's condition has been managed with imaging studies and close clinical follow-up.
J Pediatr Ophthalmol Strabismus
PMID:Homer syndrome due to ectopic cervical thymus. 1649 27

A microdeletion in chromosome 22q11.2 is one of the most frequent genetic syndromes. The phenotypic manifestations vary widely, which has led to its initial description as apparently different clinical entities, such as the velocardiofacial syndrome (VCFS) and DiGeorge syndrome. Characteristic features include cleft palate, conotruncal heart malformations, thymus hypoplasia, hypoparathyroidism, a characteristic facial phenotype and learning difficulties. Ocular abnormalities are frequently seen in this patient population. We describe the ophthalmological findings in 36 children between the age of 3 and 14 years with a microdeletion in chromosome 22q11.2. They underwent a full ophthalmological examination with assessment of visual acuity, eye position and motility, stereoscopic vision, biomicroscopic examination, refraction and fundoscopy. If necessary amblyopia treatment was started and follow-up was planned. The presence of a cardiovascular malformation was noted. In conclusion, refractive errors, strabismus, amblyopia and structural ocular abnormalities are frequently encountered in children with a microdeletion in chromosome 22q11.2. Ophthalmological examination at a young age and refractive correction in those children is warranted. On the other hand, ocular findings can give a clue to the diagnosis of del 22q11.2.
 ...
PMID:Ocular findings in children with a microdeletion in chromosome 22q11.2. 1770 45