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71.
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia 总被引:4,自引:0,他引:4
Pulkkinen L; Kimonis VE; Xu Y; Spanou EN; McLean WH; Uitto J 《Human molecular genetics》1997,6(5):669-674
Junctional epidermolysis bullosa with congenital pyloric or duodenal
atresia is a distinct variant within this group of autosomal recessive
blistering skin diseases. In this study we demonstrate, for the first time,
a homozygous mutation in the alpha6 integrin gene (ITGA6) in a family with
three affected individuals. For this purpose, we first determined the
genomic organization of ITGA6, and placed the gene on chromosome 2q by high
resolution radiation hybrid mapping. Heteroduplex analysis of PCR products
containing the individual exons of ITGA6, followed by direct nucleotide
sequencing, revealed that the proband was homozygous for a G-to-T
transversion in the +1 position of intron 12. This mutation,
1856+1G-->T, affects an invariant base of the 5' donor splice site
predicting aberrant splicing involving exon 12. The mutation was verified
in the proband's DNA by restriction enzyme digestion which also confirmed
that the parents were heterozygous carriers of this mutation. Altered
expression of alpha6 integrin, which forms a heterodimer with the beta4
subunit at the dermal-epidermal junction, would explain fragility and
blistering as a result of minor trauma to the skin.
相似文献
72.
JOCELYNE BRUN GENEVIEÉVE CHAMBA YADH KHALFALLAH PASCAL GIRARD ISABELLE BOISSY HÉLEÉNE BASTUJI GENEVIEÉVE SASSOLAS & BRUNO CLAUSTRAT 《Journal of sleep research》1998,7(2):105-114
Modafinil is an alerting substance which has been used successfully to treat narcolepsy. Nothing is known about its effect on hormone secretions. For this purpose, eight healthy young men were enrolled in a double blind trial to test the effects of modafinil on daily plasma melatonin, cortisol and growth hormone (GH) rhythms. Blood was sampled for hormone assays, every hour during the daytime and every 30 min during the nighttime. In addition, rectal temperature and mental performances were determined during the study which comprised 3 sessions, two weeks apart: a 24 h control session including a night with sleep (S1) and two 48 h sessions S2 and S3 with a sleep-deprived night (N1) followed by a recovery night (N2). Modafinil (300 mg2) or placebo were randomly attributed during N1 at 22 h and 8 h.
As expected, performance was improved after modafinil administration and body temperature was maintained or increased. Plasma melatonin and cortisol profiles were similar after modafinil and placebo administration. The levels observed during the recovery and the control nights (N2) displayed no difference. For GH, during both sleep deprived nights, secretion was dramatically reduced compared with the control one, although the number of secretory episodes was unchanged.
These data show that the alerting property of modafinil is not related to an alteration of hormone profiles and suggest that the acute modafinil administration is devoid of short-term side-effects. 相似文献
As expected, performance was improved after modafinil administration and body temperature was maintained or increased. Plasma melatonin and cortisol profiles were similar after modafinil and placebo administration. The levels observed during the recovery and the control nights (N2) displayed no difference. For GH, during both sleep deprived nights, secretion was dramatically reduced compared with the control one, although the number of secretory episodes was unchanged.
These data show that the alerting property of modafinil is not related to an alteration of hormone profiles and suggest that the acute modafinil administration is devoid of short-term side-effects. 相似文献
73.
The aim of this study was to assess prospectively the relationship of a hiatal hernia to gastro-oesophageal reflux. Ninety five children with symptoms of gastro-oesophageal reflux in whom reflux was demonstrated radiologically were investigated. Oesophageal pH monitoring for 18 hours and endoscopy were performed in all patients. On the basis of radiology, patients were divided into those with hiatal hernia (n = 37) and those without (n = 58). Both groups had the same number of reflux episodes on pH monitoring. However, the median duration of the longest episode was significantly greater in the hiatal hernia group (30 min v 19 min), as was the number of reflux episodes longer than five minutes (5 v 4). The percentage with a pH < 4 just failed to be significantly different (13% v 8%). Hiatal hernia was also found to correlate with the presence of oesophagitis. The presence of a hiatal hernia delays the clearance of acid from the oesophagus and is associated with an increased incidence of oesophagitis. 相似文献
74.
75.
1,3-Butadiene (BD) is an indirect alkylating agent that has greater cancer
potency in the mouse than in the rat. The purpose of the present study was
to compare the mutagenic potency of BD at the hprt locus of T- lymphocytes
of exposed mice and rats and to determine whether mutations induced in this
marker gene can be used as a quantitative indicator for species differences
in susceptibility to cancer. To this end, experiments were conducted to
define the effects of exposure duration and the time elapsed after
exposures on the frequency of hprt mutations (Mf) in T-cells from female
B6C3F1 mice and F344 rats of similar age (4- 5 weeks) when exposed to BD by
inhalation. The accumulation of hprt mutations in T-cells from thymus was
assessed in animals necropsied 2 weeks after exposure to 0 or 1250 ppm BD
for 1 or 2 weeks, while the time course for the appearance of hprt mutant
T-cells (i.e., the phenotypic expression and cell migration) in thymus and
spleen was evaluated in animals necropsied at weekly/biweekly intervals up
to 10 weeks after exposure for 2 weeks. At necropsy, T-cells were isolated
from thymus and spleen and cultured in the presence of IL-2, concanavalin
A, and 6-thioguanine (Walker and Skopek, Mutat. Res., 288, 151-162, 1993).
BD exposures of 1 and 2 weeks led to mutagenic effects in mouse thymus,
with the average Mfs being 3- and 5-fold greater than background values,
respectively. In rat thymus, there was only a 1.7- fold increase in Mfs
after 2 weeks of BD exposure. In the mutant expression experiment, hprt Mfs
in thymus and spleen of both species increased for several weeks
post-exposure and then declined. Hprt Mfs in thymus reached maximum levels
at 2 weeks post-exposure in mice (Mfs = 11.3 +/- 2.4 x 10(-6)) and at 3
weeks post-exposure in rats (4.9 +/- 1.2 x 10(-6)), while hprt Mfs in
spleen reached peak levels at 5 weeks post-exposure in mice (19.7 +/- 1.9 x
10(-6)) and 4 weeks post-exposure in rats (10.1 +/- 1.8 x 10(-6)).
Background Mfs for mouse and rat thymus and spleen ranged from 1.6 +/- 0.3
x 10(-6) to 3.0 +/- 1.1 x 10(- 6). Statistical analyses of the hprt Mf data
for spleen demonstrated that, under these exposure conditions, the
mutagenic potency of BD (represented by the difference in the areas under
the phenotypic expression curves of treated versus control animals) was
5-fold greater in mice than in rats. The magnitude of the species
differences in mutagenic potency, observed after 2 weeks of BD exposure,
resembles the species differences in metabolism more closely than the
species differences in cancer potency.
相似文献
76.
Luis Patino Vihren Chakarov Jürgen Schulte-Mönting Marie-Claude Hepp-Reymond Rumyana Kristeva 《Neuroscience letters》2006
Little is known about the influence of the afferent peripheral feedback on the sensorimotor cortex activation. To answer this open question we investigated the alpha and beta band task-related spectral power decreases (TRPow) in the deafferented patient G.L. and compared the results to those of six healthy subjects. The patient has been deafferented up to the nose for 24 years but her motor fibers are unaffected and she can perform complex motor tasks under visual control. We recorded EEG (58 scalp positions) as well as the exerted force during a visuomotor task. The subjects had to maintain in precision grip an isometric force at 15% of the maximal voluntary contraction. In the patient we found a significantly higher alpha band spectral power during rest and larger alpha TRPow decreases during the motor task when compared to the healthy subjects’ data. In contrast, we did not observe any significant differences between patient and controls for the beta band TRPow. The results indicate an altered functional alpha band network state in the patient, probably due to the chronic deafferentation leading to a deep ‘idling’ state of the contralateral sensorimotor area. 相似文献
77.
78.
The G gamma and A gamma genes of an individual homozygous for the British form of A gamma nondeletion hereditary persistence of fetal hemoglobin have been cloned and partially sequenced. The G gamma gene was normal, but the A gamma gene was found to have a single base change (T----C) at -198 bp relative to the cap site. Supercoiled plasmids containing normal gamma-genes or the mutant A gamma-gene displayed an S1-hypersensitive site immediately 5' to the base change. 相似文献
79.
SYNNÖVE HEIDE 《European journal of oral sciences》1973,81(2):135-144
abstract – Molar pulp tissue of 42 rats was subjected to cardiac perfusion fixation or to immersion fixation with glutaraldehyde and formaldehyde. The importance of variations in pressure and duration of cardiac perfusion was studied. The results indicated that the perfusion method was superior to immersion fixation. Best preservation of the tissues was obtained when perfusion was performed with 1.7% glutaraldehyde for 10–12 min under a pressure of 130 cmH2 O, and leaving the animals for 4 h, without immersion fixation. Also perfusion with formaldehyde resulted in good preservation, provided the solutions were prepared from paraformaldehyde powder. In contrast, solutions made from commercial stock solutions of formaldehyde gave inferior results. For sections stained with hematoxylin-eosin, perfusion with glutaraldehyde was preferable, while perfusion with formaldehyde showed increased sensitivity in demonstration of dentinal tubules stained with alcian blue at pH 3.6. It is suggested that in future studies on rat pulp tissue, perfusion with glutaraldehyde and formaldehyde should replace immersion fixation. 相似文献
80.
MARGRETHE MØLLER J. WRENSEN F. LØVE JEPSEN A. C. THOMSEN 《BJOG : an international journal of obstetrics and gynaecology》1986,93(3):240-244
Summary. Immunofluorescence examination of amniotic fluid for the occurrence of antibody-coated bacteria was carried out in 72 consecutive women with premature rupture of the fetal membranes to assess this method in the diagnosis of intrauterine infection. Antibody-coated bacteria were demonstrated in 11 women with clinical signs of intrauterine infection, histological amnionitis and heavy growth of one bacterial species. The presence of intrauterine infection was considered possible in another 14 women. One patient had no clinical signs of infection, but positive histological and bacteriological evidence; anti-body-coated bacteria were demonstrated in this patient, but not in the remaining 13 women. In 47 women clinical, histological and bacteriological signs of intrauterine infection were absent, and examinations for antibody-coated bacteria were negative in all of them. It is concluded that the demonstration of antibody-coated bacteria in amniotic fluid indicates the presence of intrauterine infection, and the examination may in some cases be positive before the appearance of clinical signs of infection. 相似文献