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

A rabbit antiserum prepared against human keratins isolated from calluses was applied to sections of 108 neoplasms using indirect immunofluorescence and immunoperoxidase technics. The vast majority of epithelial neoplasms were strongly positive for keratin-type proteins, even in the absence of obvious keratinization or squamous differentiation as revealed by light microscopy. This keratin-positivity was invariably correlated with the identification of intermediate-sized filaments arranged in loose or dense bundles in the cytoplasm of neoplastic epithelial cells. Keratin-negative neoplasms included nevi, malignant melanomas, carcinoid tumors, malignant lymphomas, and a variety of connective-tissue tumors. Immunologic identification of keratin-type proteins was particularly helpful in establishing the epithelial nature of "undifferentiated" malignant tumors, including oat cell carcinomas.
 ...
PMID:Immunohistochemical localization of keratin-type proteins in epithelial neoplasms. Correlation with electron microscopic findings. 618 89

This study was undertaken to analyze keratin gene expression at both the mRNA and protein level in oral hairy leukoplakia (OHL). Comparisons were made with normal lingual epithelium from a similar site, tongue biting, normal buccal mucosa and another condition which disturbs oral epithelial differentiation, white sponge nevus. Combined immunocytochemical and in situ hybridization studies for keratins 14 and 19 were carried out on 2 specimens of OHL from HIV-positive males and one sample each of the other cases. Keratin 14 protein expression was uniform throughout all the epithelia. In normal epithelia and in lesions other than OHL, keratin 14 mRNA was most strongly expressed in basal cells with weaker but still significant amounts in the spinous cell layer. In both cases of OHL there was weaker basal cell expression of keratin 14 mRNA and frequent absence in koilocytoid cells. Keratin 19 protein expression was heterogeneous in the basal layer of all specimens with suprabasal staining of occasional groups of cells. Its mRNA was uniformly distributed in all cases. The findings indicate the keratin mRNA expression does not always parallel that of protein and that, in the case of keratin 14, expression may be influenced by the presence of EBV.
 ...
PMID:Expression of keratin 14 and 19 mRNA and protein in normal oral epithelia, hairy leukoplakia, tongue biting and white sponge nevus. 768 26

An increasing number of syndromes with palmoplantar keratoderma (PPK) with associated diseases are being identified, representing a wide spectrum of distinct entities. At present only one case report has described the combination of marked anogenital leukokeratosis with diffuse PPK evolving in a collodion baby. We report a patient with a diffuse, nonprogressive PPK in combination with an intermittently pruritic, slowly progressive anogenital leukokeratosis. Hyperkeratosis of the perineal area was most pronounced and extended to the distal portion of the anal mucosa. The opalescent lesion was also visualized at the margin of the major labia. Vulvar structures were not otherwise involved or dystrophic. There were no signs or symptoms of ectodermal dysplasia. Specifically, the nails were normal and showed no signs of pachyonychia congenita. Other differential diagnoses included dyskeratosis congenita and white sponge nevus, which may be associated with anogenital leukokeratosis, but a keratoderma is not associated with these entities. Keratin immunocytochemistry showed marked expression of suprabasal K17 and absence of K6 and K16. Further examination of the initial case described by Itin and Rufli demonstrated the same expression pattern and supports the contention that these two cases represent the same entity.
 ...
PMID:Palmoplantar keratoderma and leukokeratosis anogenitalis: the second case of a new disease. 981 42

Keratin intermediate filaments are expressed in specific type I/type II pairs in the stage of differentiation of keratinocytes. The mutations in the keratin genes expressed in the epidermis are etiologically responsible for several epidermal genetic skin diseases, such as epidermolysis bullosa simplex, epidermolytic hyperkeratosis (EHK), ichthyosis bullosa of Siemens, palmoplantar keratoderma, pachyonchia congenita and white sponge nevus. The mutations of keratins 1/10 which are expressed in spinous and granular layers are confirmed to cause EHK. There are several trials to correlate between the clinical phenotypes and sites of mutations of the keratin genes. One of these is that EHK is divided into two groups: the palms and soles involvement (PS) group and the non-palms and soles (NPS) group. So far the PS group had the mutations in the keratin 1 and the NPS group in keratin 10. Most of the mutations of the NPS group were reported in the beginning of the 1A rod domain and over 2/3 of the mutations in the 1A rod domain were the base pair substitution of arginine. Here we find two different mutations in two unrelated Korean kindreds classified as NPS group-R156C and R156H-in the 1A rod domain of keratin 10. Our results are compatible with the above classification and suggest that the arginine in the beginning of the 1A rod domain is the hot spot for the mutation of the keratin 10 gene.
 ...
PMID:Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. 1009 4

Keratin 15 (K15) was recently shown to be a specific marker of stem cells of the hair-follicle bulge. We studied the reactivity of an antibody to the CD8 antigen (C8/144B), recognizing K15, on 66 cutaneous tumors with known or alleged pilar differentiation, in order to assess its usefulness in the diagnosis of this group of tumors. 2/2 basal cell nevi, 5/8 trichoepitheliomas and 1/3 trichofolliculomas showed substantial reactivity. Much weaker reactivity was observed in cases of trichilemmal tumors (trichilemmomas and trichilemmal cysts); by contrast, all cases of pilomatricomas, basal cell carcinomas and epidermoid cysts were completely unreactive. These results are in keeping with the admitted differentiation of the tumors studied, and suggest further that basal cell carcinomas do not differentiate towards hair bulge cells. From a practical point of view, immunostaining for K15 seems to be an additional useful adjunct for the differential diagnosis between basal cell carcinoma and trichoepithelioma.
 ...
PMID:Expression of the hair stem cell-specific keratin 15 in pilar tumors of the skin. 1041 38

Diseases caused by mutations in gene encoding keratin intermediate filaments (IF) are characterized by a loss of structural integrity in the cells expressing those keratins in vivo. This is manifested as cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some affected tissues. Keratin disorders are a novel molecular category including quite different phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erthroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa.
 ...
PMID:The keratins and their disorders. 1545 38

With the goal of increasing the number of genetic entry points for studying physiologic processes and human disease, large-scale, systematic, chemical mutagenesis projects in mice have been initiated in several different centers. We have been studying mouse mutants that exhibit dominantly inherited defects in either skin and/or hair color. Here, we describe a bright coat color mutant, Bright coat color 1 (Bcc1), which develops light-colored hair at 4 weeks of age, and when homozygous exhibits oral leukoplakia and blistering, and growth retardation. We identified a missense mutation in mutant animals that predicts an N154S amino-acid substitution in the 1A domain of Keratin 4 (encoded by the Krt2-4 gene), a region known to be mutated in human patients with white sponge nevus (WSN). Bcc1 recapitulates the gross pathologic, histologic, and genetic aspects of the human disorder, WSN.
 ...
PMID:Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus. 1685 17

Cutaneous melanoma is an aggressive cancer derived from skin melanocytes. Tissue microarrays are being used to evaluate the roles of numerous proteins implicated in some of the pathways involved in melanoma pathogenesis. Based on a previous study using a complementary DNA microarray platform, the aim of this study was to evaluate the immunohistochemical expression of the adhesion and communication molecules connexin 43, desmocollin 3, cytokeratin 5, kallikrein 6, and kallikrein 7 in a melanoma progression model. We analyzed 59 common nevi, 22 atypical nevi, and 162 invasive and 29 metastatic melanomas on tissue microarrays using digital microscopy. The expression of desmocollin 3 and connexin 43 was higher in melanomas (P < .001). Kallikrein 6 expression was higher in melanomas than in common nevi (P < .006). The expression of cytokeratin 5 and kallikrein 7 was higher in atypical nevi than in melanomas (P < .001) and was higher in melanomas than in common nevi (P < .001). The expression of desmocollin 3 and connexin 43 in melanomas indicates loss of cell-cell interactions, which starts in the early steps of the melanoma progression model. Keratin expression in melanomas may play a particular role during melanocyte development. The expression of kallikrein 7 and kallikrein 6 in melanomas may be responsible for the loss of cell-cell adhesion.
 ...
PMID:Cell adhesion and communication proteins are differentially expressed in melanoma progression model. 2119 24