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PubMed1994

Reversion of the mouse pink-eyed unstable mutation induced by low doses of x-rays.

Deletions and other genome rearrangements can be caused by radiation and are associated with carcinogenesis and inheritable diseases. The pink-eyed unstable (p(un)) mutation in the mouse is caused by a gene duplication and reverts to wild type by deletion of one copy. Reversion events in the mouse embryo were detected as black spots on the fur of the animals or microscopically as partially black hair in a background of colorless hair. The frequency of partially black hair was increased by x-rays at very low doses. A linear dose-response relation was found between 1 and 100 centigray.

Animals↗
PubMed1978

Depigmented hair. The earliest sign of tuberous sclerosis.

We have studied 4 children with tuberous sclerosis with one or more patches of depigmented scalp hair and in each case these were noticed by the parents at birth. In one patient the finding of a tuft of white hair preceded the appearance of white macules by many months. A tuft of white scalp hair is a useful new sign of tuberous sclerosis in the newborn and young child, and the hair should be examined as carefully as the skin when early 'organic' seizures are unexplained.

Hair Color↗
PubMed1980

Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).

A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive. This is the second description of this syndrome, which should be called the 'brittle cornea syndrome'. This syndrome has so far been reported only in Tunisian Jewish families.

Adolescent↗
PubMed1990

Yellow forelock--a new neuro-ophthalmological sign.

We examined a middle-aged man with a prominent yellow forelock who complained of loss of vision in both eyes. He smoked his pipe avidly and drank a little Bourbon whisky daily. The nicotine content of the forelock (21.7 ng/mg) was 10 times that of the hair on his occiput (2.23 ng/mg). A yellow forelock when associated with isolated painless visual loss suggests tobacco amblyopia.

Alcohol Drinking↗
PubMed2005

Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans.

BACKGROUND: A recent genetic study in mice and humans revealed the modulatory effect of MC1R (melanocortin-1 receptor) gene variants on kappa-opioid receptor mediated analgesia. It is unclear whether this gene affects basal pain sensitivity or the efficacy of analgesics acting at the more clinically relevant mu-opioid receptor. OBJECTIVE: To characterise sensitivity to pain and mu-opioid analgesia in mice and humans with non-functional melanocortin-1 receptors. METHODS: Comparisons of spontaneous mutant C57BL/6-Mc1r(e/e) mice to C57BL/6 wildtype mice, followed by a gene dosage study of pain and morphine-6-glucuronide (M6G) analgesia in humans with MC1R variants. RESULTS: C57BL/6-Mc1r(e/e) mutant mice and human redheads--both with non-functional MC1Rs--display reduced sensitivity to noxious stimuli and increased analgesic responsiveness to the mu-opioid selective morphine metabolite, M6G. In both species the differential analgesia is likely due to pharmacodynamic factors, as plasma levels of M6G are similar across genotype. CONCLUSIONS: Genotype at MC1R similarly affects pain sensitivity and M6G analgesia in mice and humans. These findings confirm the utility of cross species translational strategies in pharmacogenetics.

Adolescent↗
PubMed1983

Relationship between the lead concentration in hair and occupational exposure.

The lead content of hair in workers occupationally exposed was correlated with the blood lead concentration. Determinations of lead in blood and hair were performed by electrothermal atomic absorption spectrophotometry in two exposed groups and a control group. A significant correlation was observed between the blood lead and hair lead concentrations, and a regression analysis showed an exponential accumulation of the lead content in hair, simultaneously with the increase of the values in blood. The colour of the hair and the age of the subject did not influence the lead accumulation in hair in the occupationally exposed subjects. The assessment of lead in hair is considered a useful screening test in estimating occupational exposure.

Adult↗
PubMed2001

Why do some people look older than they should?

BACKGROUND: As a component of studies on biological age, the age of subjects from their appearance (perceived age) was estimated. OBJECTIVE: To determine the factors associated with looking older. METHODS: Cross sectional study of London civil servants (318 men, 129 women) in the Department of the Environment study. Perceived age was recorded by an observer and the difference between this age and chronological age was analysed according to 20 different variables. RESULTS: Men had an average perceived age of 0.37 years older than their actual age and women a perceived age of 0.54 years younger. In men, looking older was related to greying of the hair, grade of arcus senilis, and grade of baldness. Less expected, looking older was positively related to total serum cholesterol (p=0.03) and blood haemoglobin (p<0.01). In women, looking older was related to greying of the hair, positively to blood erythrocyte sedimentation rate (ESR), and negatively to serum bilirubin (p=0.01). Looking older was not related to alcohol consumption, employment grade, serum high density lipoprotein cholesterol, glucose, albumin, and calcium in either sex. CONCLUSION: The relationships between looking older and total cholesterol and haemoglobin in men and ESR and bilirubin in women, require further investigation.

Adult↗
PubMed1991

Cryptococcosis in beige mice: the effect of congenital defects in innate immunity on susceptibility.

The influence of the beige (bg/bg) mutation on susceptibility to cryptococcosis was assessed by mortality, quantitative culturing, and histopathology of infected organs from bg/bg and bg/+ mice. Immunodeficient bg/bg mice were more susceptible to systemic cryptococcosis than immunocompetent bg/+ mice. Differences in susceptibility of bg/bg and bg/+ mice corresponded with temporal differences in histopathology. In contrast to bg/+ mice, inflammatory responses in infected tissues from bg/bg mice contained less cellular infiltrate, proportionally more polymorphonuclear neutrophils than monocytes and macrophages, and delays in the switch from acute to chronic inflammation. Enhanced growth of Cryptococcus neoformans in the internal organs of bg/bg mice was coincident with delayed inflammatory responses. These quantitative culture and histopathology studies suggest that the defects associated with monocytes and macrophages and polymorphonuclear neutrophils resulted in altered in vivo inflammatory responses and contributed to the enhanced susceptibility of beige mice to C. neoformans.

Animals↗
PubMed1991

Circadian characteristics of Djungarian hamsters: effects of photoperiodic pretreatment and artificial selection.

Bidirectional artificial selection for (High Line) and against (Low Line) photoresponsiveness altered the percent of photoresponsive hamsters within lines and affected circadian function of hamsters identical in photoresponsiveness. For example, free-running period was shorter in responsive relative to nonresponsive hamsters. Between-line differences for responders and nonresponders were also found: hamsters from the High Line had a shorter free-running period relative to Low Line hamsters. However, phase angle of entrainment to long and short days was not affected. In general, expression of circadian rhythmicity was extraordinarily inflexible in photononresponsive hamsters from both lines: 1) phase angle of entrainment to lights on was similar under short and long day; 2) activity duration was similar under long and short days, although some decompression occurred in constant dark; 3) aftereffects on the free-running period were absent; and 4) amplitude of the phase-response curve was small (+/- 1 h) and present only at circadian times 10-24. We propose that selection for or against photoresponsiveness may have affected the interaction of component oscillators underlying circadian rhythmicity.

Animals↗
PubMed1994

Pre- and postnatal effects of photoperiod on collared lemmings (Dicrostonyx groenlandicus).

We investigated the hypothesis that photoperiod information received during the prenatal and/or early postnatal periods influences subsequent development in collared lemmings. Pregnant lemmings were exposed to either a short [8:16-h light-dark cycle (8:16)] or long (22:2) photoperiod throughout gestation. On the day of birth, pups were cross-fostered to dams housed in either short or long photoperiod. After an 11-day experimental lactational period (LACT), all animals were transferred to an intermediate photoperiod (16:8), the response to which depends on prior photoperiod exposure. Pups remained on this photoperiod until death at postnatal day 90. Information received during gestation (GEST) influenced offspring growth, pelage color, guard hair length, presence of the bifid claw at weaning, testes mass at 10 wk postweaning, and serum prolactin (PRL). Parameters measured at weaning reflected directly the photoperiod experienced during GEST (e.g., short-day GEST pups had white pelage). Conversely, parameters measured at 10 wk postweaning reflected the change in photoperiod experienced between GEST and 16:8 (e.g., short-day GEST young had gray pelage, indicative of an increase in photoperiod). Information received during LACT influenced growth and the presence of the bifid claw at weaning.

Aging↗
PubMed1997

Discrete thalamic lesions attenuate winter adaptations and increase body weight.

The midline thalamus (e.g., the paraventricular thalamic nuclei and the reuniens nucleus) of Siberian hamsters and other mammals has been reported to contain specific binding sites for melatonin, a hormone that is essential for photoperiodically induced winter adaptations such as reproductive quiescence, loss of body weight, daily torpor, and the winter molt. The first experiment investigated whether the midline thalamus is necessary for these winter adaptations. Adult Siberian hamsters received discrete neurotoxic lesions of the paraventricular thalamic nuclei or the reuniens nucleus while under pentobarbital sodium-induced anesthesia. After recovery, the hamsters were monitored for winter adaptations while they were exposed to short photoperiods (10 h light/day) for 12 wk at 22 degrees C then for 60 days at 7 degrees C. Lesions of the reuniens nucleus, but not of the paraventricular thalamic nuclei, significantly inhibited short photoperiod-induced loss of body weight and tended to increase food consumption and decrease daily torpor. The second experiment showed that lesions of the reuniens nucleus increased body weight gain compared with that in controls during exposure to long photoperiods at 22 degrees C for 16 wk. In summary, these findings show that the reuniens nucleus is an important site for regulation of body weight and suggest that lesions of the reuniens nucleus may attenuate winter metabolic adaptations by causing an increase in body weight.

Acclimatization↗