Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

B cells derived from peripheral-blood lymphocytes (PBL) and tumor-infiltrating lymphocytes (TIL) from a patient with a high serum antibody titer to autologous melanoma were transformed with Epstein-Barr virus (EBV) and evaluated for reactivity against autologous tumor. B cells producing antibody reactive with autologous tumor and unreactive with normal fibroblasts were detected both in TIL and in PBL. One cell line derived from PBL and another derived from TIL sustained production of tumor-reactive antibody for 10 weeks and over 15 months respectively. The cell line derived from PBL, 2D11, produced an antibody reactive with a trypsin-resistant antigen expressed on the cell membrane of autologous and allogeneic melanoma cell lines. The cell line derived from TIL, 1F6, produced an antibody reactive with a cell-surface glycoprotein expressed by 5 autologous melanoma cell lines derived from 5 different metastases and 16/19 allogeneic melanoma cell lines. 1F6 also showed reactivity with cell lines derived from a blue nevus, a congenital nevus, an astrocytoma, and 1/4 renal-cell carcinomas; but it was not reactive with 5 foreskin melanocyte cell lines, 2 normal fibroblast lines, 5 leukemia/lymphoma lines, 8 lung-cancer lines, 8 glioblastoma lines, or lines derived from 1 ovarian carcinoma, 1 colon carcinoma, 1 vulvar carcinoma, 1 fibrosarcoma, 1 murine melanoma, or 4 murine leukemia/lymphomas. We describe here an antibody that detects a new melanoma specificity obtained by EBV transformation of tumor-infiltrating B cells.
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PMID:Analysis of two human monoclonal antibodies against melanoma. 145 38

A group of 420 neonates underwent total cutaneous and oral mucosal examinations during the first week of life. Skin lesions were seen in almost every baby (99.3%). The eight most common dermatoses were desquamation (65.0%), Epstein's pearls (56.0%), sebaceous hyperplasia (48.0%), milia (36%), toxic erythema (34.8%), salmon patch (33.8%), hypertrichosis (29.0%), and Mongolian spot (25.5%). Congenital melanocytic nevi were clinically diagnosed in 9 of 420 babies (2.1%); the majority of the lesions were small, that is, less than 1.5 cm in diameter. These neonates had a dark complexion (all had brown or black hair, and most had an olive skin color) and came from families with no previous history of cutaneous melanoma. In contrast, all 19 babies with a previous family history of melanoma had a fair complexion (blond or light brown hair and alabaster skin color) but no congenital melanocytic nevi. These findings may suggest that small congenital melanocytic nevi are markers for persons with a decreased risk of melanoma, because dark-skinned persons are at a lower risk. On the other hand, small congenital melanocytic nevi may be precursors of melanoma. Only prospective studies will determine the magnitude of this risk and thereby optimize management.
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PMID:A prevalence survey of dermatoses in the Australian neonate. 236 80

A total of 900 consecutive newborns delivered at the Nehru Hospital, Chandigarh, India, over a period of 7 months were examined for presence of skin lesions within 48 hours of birth. Commonly observed skin lesions were Epstein pearls (88.7%), mongolian spots (62.2%), milia (34.9%), sebaceous hyperplasia (31.8%), salmon patches (28.4%), and erythema toxicum neonatorum (20.6%). These figures are comparable with earlier reports. Impetigo neonatorum occurred in 11.3% of infants, and was frequent in our hot and humid climate from May to August. Traumatic skin lesions were most often present in babies who had forceps deliveries. Three hundred ten (34%) babies were available for follow-up up to six weeks. Additional skin lesions observed were omphalitis (16 babies), oral thrush (9) and postinflammatory hypomelanosis (8). Three infants had atopic dermatitis, two each had seborrheic dermatitis, diaper dermatitis, pityriasis versicolor, and nevus achromicus. One each had vitiligo, ichthyosis vulgaris, urticaria, and strawberry hemangioma. These observations highlight the importance of repeat examination for the appearance of skin lesions during the neonatal period.
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PMID:Survey of cutaneous lesions in Indian newborns. 270 61

The hereditary dysplastic nevus syndrome (DNS) is an autosomal dominant disorder in which affected individuals have increased numbers of dysplastic (premalignant) nevi and a greater than 100-fold increased risk of developing cutaneous melanoma. Epstein-Barr virus-transformed lymphoblastoid cell lines from patients with hereditary DNS have been shown to be hypermutable to UV radiation (M.I.R. Perera et al., Cancer Res., 46: 1005-1009, 1986). To examine the mechanism involved in this UV hypermutability, we used a shuttle vector plasmid, pZ189, which carries a 160-base pair marker gene, supF, and can replicate in human cells. pZ189 was treated with UV radiation and transfected into DNS6BE, a lymphoblastoid cell line from a patient with hereditary DNS. Plasmid survival after UV was similar with the DNS6BE line and with a lymphoblastoid cell line from a normal donor. Plasmid mutation frequency was greater with the DNS line in accord with the DNS cellular hypermutability. Base sequence analysis was performed on 69 mutated plasmids recovered from the DNS line. There were significantly more plasmids with single base substitution mutations (P less than 0.01) in comparison to UV-treated plasmids passed through normal fibroblasts. pZ189 hypermutability and an increased frequency of single base substitutions was previously found with a cell line from a melanoma-prone xeroderma pigmentosum patient. These differences may be related to the increased melanoma susceptibility in both DNS and xeroderma pigmentosum.
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PMID:Ultraviolet mutagenesis in a plasmid vector replicated in lymphoid cells from patient with the melanoma-prone disorder dysplastic nevus syndrome. 279 Aug 6

Two naturally occurring non-enzymic glucosylceramide activator proteins (A1a and A1b activator) shown previously to be immunochemically not detectable in a new variant of human Gaucher disease (glucosylceramide lipidosis) without glucosylceramidase deficiency, were characterized by amino-acid sequence and carbohydrate content. The complete amino-acid sequence of the A1a activator was determined. The protein consists of 80 amino-acid residues including three disulfide bridges lacking arginine and tryptophan. The molecular mass is 8.95 kDa. About 20% of the polypeptide chain are shorter by two amino-acid residues at the N-terminal end. The A1b activator was characterized by the amino-acid compositions of all tryptic peptides and of the entire protein; sequencing was performed of the regions 1-34 and 42-56. Identical results were obtained for the polypeptide chains of both A1 activators. This suggests that they do not differ in their primary structures which is in agreement with the immunochemical results. The difference between A1a and A1b activator is due to the carbohydrate part. The total amount of 49% carbohydrate in A1a and 76.7% in A1b consists mainly of hexoses. Both chains contain two moles of N-acetylglucosamine per mole protein bound to asparagine in position 22. A comparison of the primary structure of the A1 activator with the sulfatide activator sequence revealed an interesting similarity, especially of the cysteine residues and the carbohydrate-binding asparagine. Sequence homology was also found between a part of the A1 activator sequence and the hemagglutinin neuraminidase of influenza virus as well as to a hypothetical glycoprotein of the Epstein-Barr virus. The comparison with human lysosomal glucosylcerebrosidase showed no sequence similarity.
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PMID:Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant. 344

The hereditary dysplastic nevus syndrome (DNS) is a well-characterized disorder in which affected individuals have increased numbers of premalignant (dysplastic) nevi and a markedly increased risk of developing cutaneous melanoma. Seeking evidence of a systemic disorder in DNS, we examined the effect of ultraviolet radiation on cultured lymphoid cells. Epstein-Barr virus-transformed lymphoblastoid cell lines from patients with hereditary DNS had similar survival values following treatment with 2.3 to 9.0 J of 254-nm ultraviolet radiation per m2 as did lines from control individuals. Mutagenesis at the hypoxanthineguanine phosphoribosyltransferase locus was assessed by measuring the induction of resistance to thioguanine using a microtiter well assay. Three lymphoblastoid cell lines from patients with hereditary DNS and melanoma had a 2- to 3-fold greater frequency of induced mutants per clonable cell than three normal lines following exposure to 4.5 to 9.0 J of ultraviolet radiation per m2. Expanded clones of mutated DNS lymphoblastoid cell lines had less than 6% of normal hypoxanthine-guanine phosphoribosyltransferase activity. Inhibition and recovery of DNA synthesis following ultraviolet exposure were similar in 2 DNS and 2 normal lines. Repair by DNS lines of ultraviolet-induced DNA damage was in the normal range as measured by alkaline elution. Thus, hereditary DNS exhibits in vitro hypermutability which may reflect increased susceptibility to ultraviolet-induced somatic mutations in vivo. This abnormality may be related to the increased melanoma susceptibility of patients with hereditary DNS.
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PMID:Hereditary dysplastic nevus syndrome: lymphoid cell ultraviolet hypermutability in association with increased melanoma susceptibility. 394 Jun 25

Oral hairy leukoplakia (OHL) is a disorder of the tongue associated with Epstein-Barr virus (EBV). OHL is seen mainly in HIV infection but is also rarely seen in the course of iatrogenic immunosuppression, especially in kidney transplantation; OHL is even more rarely seen in immunocompetent hosts. Lesions that clinically and histologically mimicked OHL but were not associated with EBV were recently characterized as pseudo hairy leukoplakia. We present such a case that occurred in a renal allograft recipient; light and electron microscopy, immunohistochemistry, and in situ hybridization were used to examine the patient for the presence of EBV and human papillomavirus. Two independent treatments with topical retinoid and oral amoxicillin resulted in complete remission. Pseudo hairy leukoplakia may correspond, at least in some cases, to the conditions known as leukoedema and white sponge nevus; the distinction of these diseases from OHL is of importance because OHL is a hallmark of severe immunosuppression.
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PMID:Pseudo oral hairy leukoplakia in a renal allograft recipient. 829 86

Epstein-Barr virus (EBV) is a human herpes virus with oncogenic potential, associated with several malignancies. The EBV-encoded latent membrane protein 1 (LMP1) is one of nine proteins regularly expressed in virally infected and immortalised B lymphocytes. We now document the consistent immunoreactivity for LMP1 in 90% of 65 nevi and melanomas, using the monoclonal antibody cocktail CS1-4. The immunocytochemical findings, however, were not confirmed using reverse-transcription polymerase chain reaction (RT-PCR) experiments, which failed to demonstrate any actual expression of LMP1 mRNA. In situ hybridisation for EBV-encoded RNAs (EBERs 1 and 2) and PCR amplification of EBV genomic sequences also failed to document any viral infection. Several normal and neoplastic human tissues have also been immunostained for LMP1, without any positive staining, with the exception of a minor percentage of skin melanocytes and of normal blasts of the myeloid and erythroid lineages. We conclude that the vast majority of nevi and melanomas express a still uncharacterised molecule, cross-reacting with anti-LMP1 (CS1-4) antibodies, which may be considered a consistent marker of melanocytic proliferations. The immunoreactivity of normal and neoplastic human tissues for the anti-LMP1 reagent should not be taken as evidence of EBV infection.
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PMID:Immunoreactivity for latent membrane protein 1 of Epstein-Barr virus in nevi and melanomas is not related to the viral infection. 1135 81

The iridocorneal endothelial (ICE) syndrome includes progressive essential iris atrophy, the Cogan-Reese syndrome, Chandler's syndrome and mixed forms. The term ICE-S was proposed by Scheie and Yanoff in 1975 and by Yanoff in 1979. The capacity of migration of the abnormal corneal endothelial cell layer across the anterior chamber angle, and on to the anterior surface of the iris, possible on to the back surface of the iris and across the zonula fibers is responsible for corneal edema, secondary glaucoma, nevi, noduli and atrophy of the iris, and pupillary distortion. The contraction of the migrated membrane-like ICE tissue produces holes in the iris. The diseases are usually unilateral in young patients. The etiology is still not clear. Theories include membrane formation, low grade of inflammation and viral infection with Herpes simplex or Epstein-Barr virus. Glaucoma and edema of the cornea are the main therapeutic problems.
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PMID:[Iridocorneal endothelial syndrome (ICE-S): classification, clinical picture, diagnosis]. 1624 Feb 72

Iridocorneal endothelial (ICE) syndrome is a group of ocular conditions characterized by corneal proliferative endotheliopathy in which secondary corneal edema, peripheral anterior synechiae, and abnormalities of the iris stroma are the common features. The etiology remains unclear, but may be related to viral infection with Herpes simplex or Epstein-Barr virus. The pathogenesis of the ICE syndrome is believed to result from an abnormality of the corneal endothelial cells (causing corneal edema), with secondary spreading of the cells over the trabecular meshwork region (causing anterior synechiae and elevated intraocular pressure [IOP]) and across the surface of the iris (responsible for the formation of iris holes, pupillary distortion, and iris noduli). The disease complex, which includes essential iris atrophy, Chandler's syndrome, and iris nevus (Cogan-Reese) syndrome, is almost always unilateral, nonfamilial, and typically occurs in females during young adulthood. ICE syndrome is commonly progressive and frequently complicated by secondary glaucoma and corneal decompensation. In Chandler's syndrome, iris changes are less pronounced and corneal edema more frequent than in essential iris atrophy or Cogan-Reese syndrome. Glaucoma associated with ICE syndrome is often difficult to manage and is usually treated with medications and/or filtering surgery. Glaucoma filtering surgery is usually successful when done early, but may fail due to endothelialization of the fistula by the abnormal corneal endothelium.
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PMID:[Iridocorneal endothelial syndrome and glaucoma]. 1731 7


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