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)

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.
 ...
PMID:[Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)]. 11 1

We conducted a case-control interview study among 1277 subjects (407 patients, 870 controls selected by using random digit dial) in 11 western United States to determine whether uveal melanoma and cutaneous melanoma shared common risk factors. After adjustment for other factors, the risk of uveal melanoma was increased for those with green, gray, or hazel eyes [relative risk (RR) = 2.5, P less than 0.001] or blue eyes (RR = 2.2, P less than 0.001) when compared to brown. A tendency to sunburn after 0.5 h midday summer sun exposure increased risk for uveal melanoma (burn with tanning RR = 1.5, P = 0.02; burn with little tanning RR = 1.8, P less than 0.001; burn with no tanning RR = 1.7, P = 0.002); as did exposure to UV or black lights (RR = 3.7, P = 0.003); and welding burn, sunburn of the eye, or snow blindness (RR = 7.2, P less than 0.001). An association with uveal melanoma was also noted with an increasing number of large nevi (P = 0.04 for trend), although the individual risk estimates were not remarkable. These data suggest that host factors and exposure to UV light are risk factors for uveal melanoma.
 ...
PMID:Uveal melanoma in relation to ultraviolet light exposure and host factors. 239 51

Subterranean mole rats of the Spalax ehrenbergi superspecies in Israel have a distinctly developed vocal repertoire, presumably compensating together with olfaction for their complete blindness, thus providing an efficient communication system underground. Here we describe the unique organization of the cochlea of Spalax among mammals. The cochlea is subdivided into different subsystems where in the apical subsystem the fluid space and the organ of Corti differ remarkably from that in the basal subsystem, a feature as yet unknown in other mammals. The audiograms based on cochlear microphonics and on evoked potential recordings from the midbrain and brainstem, reveal a hearing range from 0.1 kHz-10 kHz with a best sensitivity between 0.5 and 1 kHz.
 ...
PMID:Inner ear structure and electrophysiological audiograms of the subterranean mole rat, Spalax ehrenbergi. 337 67

Natural blindness and a subterranean, digging mode of life demand peculiar adaptations of the central nervous system in the mole rat Spalax ehrenbergi, which are the focus of this quantitative investigation. Volumes of 25 brain structures in Spalax were evaluated allometrically, using the least encephalized mammalian species, the Madagassian hedgehog-like tenrecs (Tenrecinae) as a reference base, and their sizes compared with those of the rat (as a more generalized representative of rodents) and of some subterranean Insectivora. The allometric approach reveals that Spalax has a larger brain than tenrecs and the rat. Within the brain, the neocortex and diencephalon are well developed, an observation also made in other mammalian species with a relatively high encephalization. An unique feature in Spalax is the enlargement of motor structures of the brain, such as the cerebellum (and cerebellar nuclei), and the striatum. Most conspicuous is the large size of the nucleus motorius nervi trigemini, reflecting the importance of masticatory muscles for the special digging technique, which demand an intense use of the teeth for loosening the soil.
 ...
PMID:Brain structure volumes in the mole rat, Spalax ehrenbergi (Spalacidae, Rodentia) in comparison to the rat and subterrestrial insectivores. 917 33

Blind mole-rats (Spalax ehrenbergi) are solitary aggressive subterranean rodents. They inhabit individual territories, comprised of branched tunnels. Each such tunnel system is completely separate from that of any neighboring mole-rat. Although intraspecific encounters between neighbors are infrequent, when they do occur, they may result in the injury or death of one or both animals. Avoidance of encounters may be due to the awareness of a neighbor's whereabouts through scent-marking and/or seismic (vibratory) communication. The present study was intended to examine whether encounters between individual mole-rats result in physiological stress. Two experimental conditions were designed to simulate natural situations: a brief encounter between two neighboring mole-rats, taking place either once or several times and long-term residency of neighbors whose only contact was either vibratory or vibratory plus odor communication. Blood samples were taken before, during, and after encounters in the first experiment and at set intervals in the second. The blood variables measured were blood glucose levels (BGL) and neutrophil/lymphocyte ratio (N/L). Blood glucose levels and neutrophil/lymphocyte ratio ratios increased in both members of encountering pairs. Long-term residency with a neighbor resulted in the establishment of a dominant-subordinate relationship through vibratory communication only, with increased neutrophil/lymphocyte ratio ratio in the subordinate males. However, long-term residency of males exposed to both vibrations and odors of neighboring males resulted in the death of both individuals. It seems that brief direct encounters and long-term neighboring conditions without physical contact are sufficient to cause severe stress to mole-rats. It is possible that in the wild, in some situations in which neighboring mole-rats cannot avoid constant exposure to each other's vibratory and odor signals, the consequent extensive stress may result in death.
 ...
PMID:Social stress in neighboring and encountering blind mole-rats (Spalax ehrenbergi). 981 71

Blind subterranean mole rats, Spalax ehrenbergi, retain a subcutaneous, degenerated eye, which is visually non-functional but which does function in circadian entrainment. Crystallins, members of the small heat shock protein family, constitute approximately 90% of the water-soluble proteins of the transparent eye lens and are crucial for its optical properties, but they are also expressed in other tissues. In our attempt to understand the role of the eye in the blind mole-rat, we now describe the cloning, sequencing, and expression of the cDNA of alpha-B-Crystallin from two species of Spalax (S. galili and S. Judaei, with diploid chromosome numbers 2n=52 and 60, respectively). Spalax alpha- B-Crystallin is highly conserved. It is expressed in many tissues of Spalax, among them Spalax eye. The sequence of the cDNA of alpha-B-Crystallin in the eye and in the heart of Spalax is identical. Further studies are essential to clarify the role of this gene in the lens of an atrophied eye of a visually blind mammal.
 ...
PMID:The lens protein alpha-B-crystallin of the blind subterranean mole-rat: high homology with sighted mammals. 1124 77

Blind subterranean mole rats retain a degenerated, subcutaneous, visually blind but functionally circadian eye involved in photoperiodic perception. Here we describe the cloning, sequence, and expression of the circadian Clock and MOP3 cDNAs of the Spalax ehrenbergi superspecies in Israel. Both genes are relatively conserved, although characterized by a significant number of amino acid substitutions. The glutamine-rich area of Clock, which is assumed to function in circadian rhythmicity, is expanded in Spalax compared with that of humans and mice, and is different in amino acid composition from that of rats. We also show that MOP3 is a bona fide partner of Spalax Clock and that the Spalax Clock/MOP3 dimer is less potent than its human counterpart in driving transcription. We suggest that this reduction in transcriptional activity may be attributed to the Spalax Clock glutamine-rich domain, which is unique in its amino acid composition compared with other studied mammalian species. Understanding Clock/MOP3 function could highlight circadian mechanisms in blind mammals and their unique pattern as a result of adapting to life underground.
 ...
PMID:Biological clock in total darkness: the Clock/MOP3 circadian system of the blind subterranean mole rat. 1170 66

Blind mole-rats (Spalax ehrenbergi) are fossorial solitary rodents that present striking morphological, physiological and behavioural adaptations to the subterranean environment in which they live. Previous studies have shown that mole-rats are specialised in tooth-digging. The rapid eruption-rate of their incisors has evolved to compensate for their excessive wear by excavation. Males use their incisors more than females for digging and fighting, and their rate of incisor eruption is significantly more rapid than in females. Since mole-rats use their incisors for digging throughout the year, we suggest that continuous mechanical pressure on their oral tissues concentrated at the apical sites of the upper incisors leads to cell and tissue fatigue. We provide evidence for 5 stages of palatal perforation by the upper incisors at their apical sites, with maximum perforation characterising aged males. Interspecies comparisons with 7 other fossorial and semi-fossorial rodent species, and with beavers, which expose their incisors to enormous mechanical pressure, revealed that this palatal perforation is unique to the male mole-rat. We suggest that while the fast eruption rate of incisors in the mole-rat compensates for the rapid wear resulting from digging, evolutionary adaptation to continuous tooth-digging is still ongoing, since the physical pressure of digging at the apical sites of the upper incisors leads to tissue destruction, breakage of the palatal bone and possibly to death, as a result of maxillary inflammation.
 ...
PMID:Reversed palatal perforation by upper incisors in ageing blind mole-rats (Spalax ehrenbergi). 1176 Aug 90

Blind mole rats have degenerated subcutaneous eyes that are visually nonfunctional. In this investigation, we have compared the tissue specificity of the small heat shock protein (shsp)/alphaB-crystallin promoter of the mole rat superspecies, Spalax ehrenbergi, with that of the mouse. Earlier experiments showed that mouse shsp/alphaB-crystallin promoter/enhancer activity is high in the lens and moderate in the heart and skeletal muscle of transgenic mice. Here, we show in transgenic mouse experiments using the firefly luciferase reporter gene that, despite relatively few changes in sequence, the mole rat shsp/alphaB-crystallin promoter/enhancer has selectively lost lens activity after 13.5 days of embryogenesis (E13.5). The ratios of mole rat/mouse promoter activity were 0.01 for lens, 1.7 for heart, and 13.6 for skeletal muscle in 8-wk-old transgenic mice. Our data indicate that the shsp/alphaB-crystallin promoter/enhancer has undergone adaptive changes corresponding to the subterranean evolution of the blind mole rat. We speculate that selective pressures on metabolic economy may have contributed to these tissue-specific modifications of promoter/enhancer function during adaptation to life underground.
 ...
PMID:Adaptive evolution of small heat shock protein/alpha B-crystallin promoter activity of the blind subterranean mole rat, Spalax ehrenbergi. 1206 Jul 61

The mole rat (Spalax ehrenbergi) is a subterranean rodent whose adaptations to its fossorial life include an extremely reduced peripheral visual system and an auditory system suited for the perception of vibratory stimuli. We have previously shown that in this blind rodent the dorsal lateral geniculate nucleus, the primary visual thalamic nucleus of sighted mammals, is activated by auditory stimuli. In this report we focus on the manifestation of this cross-modal compensation at the cortical level. Cyto- and myeloarchitectural analyses of the occipital area showed that despite the almost total blindness of the mole rat this area has retained the organization of a typical mammalian primary visual cortex. Application of the metabolic marker 2-deoxyglucose and electrophysiological recording of evoked field potentials and single-unit activity disclosed that a considerable part of this area is activated by auditory stimuli. Previous neuronal tracing studies had revealed the origin of the bulk of this auditory input to be the dorsal lateral geniculate nucleus which itself receives auditory input from the inferior colliculus.
 ...
PMID:Auditory activation of "visual" cortical areas in the blind mole rat (Spalax ehrenbergi). 1216 12


1 2 3 Next >>