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

We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in the future for the occurrence of malignancy.
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PMID:Probable Opitz trigonocephaly C syndrome with medulloblastoma. 909 89

Unfortunately, it is unlikely that a definitive answer will be known. We believe that it is most likely that Ruth was not amblyopic. This seems possible only if Dr. Kara had missed some amblyogenic factor such as strabismus or a significant refractive error. Our favored solution is that Ruth's unilateral vision loss was a complication of his cancer, and that Dr. Kara's examination occurred before the optic nerve damage became detectable. Of course, this is in disagreement with the ophthalmologist who examined his eyes.
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PMID:Babe Ruth: with vision like that, how could he hit the ball? 915 3

The retinal pigment epithelium and retinal hamartoma is a rare benign tumor. We describe a case of combined hamartoma of the pigment epithelium and retina in an eight year-old-girl with strabismus and amblyopia. The fluoresceinic angiography and the echography allowed to exclude a malignant tumor of the retina or the choroid. The clinical follow-up confirmed that the lesion was stationary. History, pathogeny, differential diagnostics and treatment are discussed.
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PMID:[Hamartoma of the pigment epithelium and retina. Apropos of a case]. 918 Nov 42

Toxins are increasingly being used as valuable tools for analysis of cellular physiology, and some are used medicinally for treatment of human diseases. In particular, botulinum toxin, the most poisonous biological substance known, is used for treatment of a myriad of human neuromuscular disorders characterized by involuntary muscle contractions. Since approval of type-A botulinum toxin by the US Food and Drug Administration in December 1989 for three disorders (strabismus, blepharospasm, and hemifacial spasm), the number of indications being treated has increased greatly to include numerous focal dystonias, spasticity, tremors, cosmetic applications, migraine and tension headaches, and other maladies. Many of these diseases were previously refractory to pharmacological and surgical treatments. The remarkable therapeutic utility of botulinum toxin lies in its ability to specifically and potently inhibit involuntary muscle activity for an extended duration. The clostridia produce more protein toxins than any other bacterial genus and are a rich reservoir of toxins for research and medicinal uses. Research is underway to use clostridial toxins or toxin domains for drug delivery, prevention of food poisoning, and the treatment of cancer and other diseases. The remarkable success of botulinum toxin as a therapeutic agent has created a new field of investigation in microbiology.
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PMID:Clostridial toxins as therapeutic agents: benefits of nature's most toxic proteins. 1054 1

Extraocular muscle biopsies were obtained during enucleation because of advanced intraocular retinoblastoma in four patients admitted to the Service of Ophthalmology at the Caracas University Hospital. Slight limitations of ocular movements and strabismus were present in all cases. The electron microscopical analysis showed muscle fibres with slight to severe atrophy exhibiting myopathic structures as nemaline, filamentous and zebra bodies. Fibre necrosis was also observed characterized by sarcomeric hypercontraction, autophagia, sarcolemmal disruption, and mitochondrial swelling. Capillary alterations included endothelial proliferation with intraluminal infoldings and, in some cases, capillary degeneration and necrosis. A mononuclear cell infiltration formed by macrophages and scarce mast cells located next to atrophic fibres and altered capillaries was observed. Additionally, neutrophils were found around capillaries and in their wall. Cancer cells invading muscle tissue were not seen. Two different ethiopathogenic mechanisms for muscle damages seem to be present. Because of the similarity between the microvascular changes we observed and those found in the muscle compromise of several autoimmune diseases, an autoimmune component in the ethiopathogenesis of the observed capillary alterations is proposed. On the other hand, abnormalities observed in muscle fibres are very similar to those in neurogenic atrophy. This study represents the first report on an extraocular muscle paraneoplastic phenomenon associated with orbital tumours.
J Exp Clin Cancer Res 2001 Jun
PMID:Extraocular muscle ultrastructural pathology in the paraneoplastic phenomenon associated with retinoblastoma. 1148 88

The purpose of our study was to derive an alternate end-point to death or moribund appearance for the frequently used L1210 model of murine leukemia. In reviewing the published literature, we were unable to identify a suitable intermediate marker of substantive disease that predicted outcome in the BDF1 recipient of the L1210 leukemia. In an attempt to refine the use of animals in our laboratory, we developed a scoring sheet for behavioral and physical changes that followed intravenous injection of L1210 lymphocytic leukemia cells into BDF1 recipients. At 12-h intervals for the first 2 days after tumor-cell injection and at 6-h intervals thereafter, animals were observed and scored for each parameter. When death was imminent, animals were euthanized by inhalation of methoxyflurane followed by decapitation. Changes in physical and behavioral characteristics then were correlated with the end-point of death. Changes occurred in the mice approximately 7 days after tumor cell inoculation and 24 h before death. The earliest of these signs was hunched posture, followed by one or more other characteristics including decreased activity, increased facial swelling, ears in backward position, abdominal swelling, squinting eyes, and labored breathing. From these data, we were able to develop criteria for early euthanasia. Use of these intermediate end-points likely will substantially reduce the stress on the animals without compromising scientific outcomes in experiments using this or related preclinical models of cancer.
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PMID:Determination of a humane endpoint in the L1210 model of murine leukemia. 1195 99

WNT signals are transduced to beta-catenin - TCF pathway, JNK pathway, or Ca2+-releasing pathway through WNT receptors. FRAT1, FRAT2, and PAR-1 are positive regulators of WNT - beta-catenin pathway. APC, AXIN, NKD1, NKD2, and Strabismus (STB1, STB2) are negative regulators of WNT - beta-catenin pathway. Here, biological significance of WNT3-WNT14B/WNT15 gene cluster (human chromosome 17q21) and WNT3A-WNT14 gene cluster (human chromosome 1q42) will be reviewed. Total-amino-acid identity between WNT3 and WNT3A is 84.2%, and that between WNT14 and WNT14B is 61.4%. WNT3A and WNT14B show reciprocal regulation by all-trans retinoic acid in NT2 cells and by beta-estradiol in MCF-7 cells. Exon-intron structures are well conserved between WNT3-WNT14B gene cluster and WNT3A-WNT14 gene cluster, except for the existence of an additional intron in 3'-UTR of WNT3. Capicua pseudogene and AK024248-related sequence are located within intergenic region of human WNT3A-WNT14 gene cluster, but not within intergenic regions of human WNT3-WNT14B gene cluster and mouse Wnt3a-Wnt14 gene cluster. Integration of mouse mammary tumor virus (MMTV) into mouse Wnt3-Wnt14b gene cluster leads to carcinogenesis. Because these WNT gene clusters might be fragile sites in the human genome, implication of WNT3 or WNT3A in cancer as well as implication of WNT14 or WNT14B in connective tissue disease and congenital joint malformation should be elucidated in the future. WNT3, WNT3A, WNT14, and WNT14B might be applicable to tissue engineering of neuron and joint in the field of regenerative medicine, and as an early diagnostic marker in the field of clinical oncology.
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PMID:WNT3-WNT14B and WNT3A-WNT14 gene clusters (Review). 1201 73

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.
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PMID:Structure and expression of Strabismus 1 gene on human chromosome 1q21-q23. 1201 99

Strabismus 1 (STB1/VANGL2) and Strabismus 2 (STB2/VANGL1), which have been cloned and characterized using bioinformatics and cDNA-PCR, are human homologues of Drosophila tissue polarity gene strabismus (stbm)/Van Gogh (Vang). STB1 and STB2 are tetra-membrane-spanning proteins with 73.1% total-amino-acid identity. Serine-rich domain and Strabismus-homology (STH1 and STH2) domains are conserved among human STB1, STB2, Xenopus Stbm, and Drosophila Stbm. STH2 domain with the C-terminal Ser/Thr-X-Val motif is implicated in binding with Dishevelled (DVL) proteins. STB1 gene is clustered with CASQ1 gene on human chromosome 1q21-q23, while STB2 gene is clustered with CASQ2 gene on human chromosome 1p13. STB1 and STB2 genes are located around cancer susceptibility loci or recombination hot spots in the human genome. STB1 is moderately expressed in K-562 (leukemia), G-361 (melanoma), and MKN7 (gastric cancer) cells. STB2 is highly expressed in MKN28, MKN74 (gastric cancer), BxPC-3, PSN-1, and Hs766T (pancreatic cancer) cells. On the other hand, STB1 and STB2 are significantly down-regulated in several cancer cell lines and primary tumors. Xenopus homologue of human STB1 and STB2 regulates negatively the WNT - beta-catenin signaling pathway. Loss-of-function mutations of genes encoding negative regulators of WNT - beta-catenin signaling pathway lead to carcinogenesis. Based on functional aspects and human chromosomal loci, STB1 gene and STB2 gene are predicted to be potent tumor suppressor gene candidates. STB1 and STB2 might be suitable targets for tissue engineering in the field of re-generative medicine and for chemoprevention and treatment in the field of clinical oncology.
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PMID:Strabismus (STB)/Vang-like (VANGL) gene family (Review). 1206 Aug 45

Cell movement plays a central role in both normal embryogenesis and the development of diseases such as cancer. Therefore, identification and analysis of proteins controlling cell movement is of special importance. The zebrafish trilobite locus encodes a Van Gogh/Strabismus homologue, which regulates diverse cell migratory behaviors during embryogenesis. Trilobite is most similar to human Van Gogh-like 2 (VANGL2)/Strabismus 1 and mouse Loop-tail associated protein/Lpp1. Both human and mouse genomes encode a second Strabismus homologue referred to as VANGL1/Strabismus 2 and Lpp2, respectively. This prompted us to ask whether another van gogh/strabismus gene, one more closely related to human VANGL1, exists in the zebrafish genome. This paper describes the identification of zebrafish vangl1 and provides the first spatiotemporal expression and functional analysis of a vertebrate vangl1 homologue. Our data indicate that vangl1 and trilobite/vangl2 are expressed in largely non-overlapping domains during embryogenesis. Injection of synthetic vangl1 RNA partially suppressed the gastrulation defect in trilobite mutant embryos, suggesting that Vangl1 and Trilobite/Vangl2 have similar biochemical activities.
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PMID:Identification and developmental expression pattern of van gogh-like 1, a second zebrafish strabismus homologue. 1505 85


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