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At least 1,009 records · Page 56Linked to original sources
PubMed2004

Potato virus X-induced gene silencing in leaves and tubers of potato.

Virus induced gene silencing (VIGS) is increasingly used to generate transient loss-of-function assays and has potential as a powerful reverse-genetics tool in functional genomic programs as a more rapid alternative to stable transformation. A previously described potato virus X (PVX) VIGS vector has been shown to trigger silencing in the permissive host Nicotiana benthamiana. This paper demonstrates that a PVX-based VIGS vector is also effective in triggering a VIGS response in both diploid and cultivated tetraploid Solanum species. We show that systemic silencing of a phytoene desaturase gene is observed and maintained throughout the foliar tissues of potato plants and was also observed in tubers. Here we report that VIGS can be triggered and sustained on in vitro micropropagated tetraploid potato for several cycles and on in vitro generated microtubers. This approach will facilitate large-scale functional analysis of potato expressed sequence tags and provide a noninvasive reverse-genetic approach to study mechanisms involved in tuber and microtuber development.

Base Sequence↗
PubMed1992

The neuropathology of tuberous sclerosis.

Tuberous sclerosis, an autosomal dominant disorder associated with hamartomas in multiple organs, prominently affects the central nervous system; principle lesions include subependymal nodules and giant cell astrocytomas, white matter heterotopias, and cortical tubers. Histologic, immunocytochemical, and ultrastructural features of these processes suggest they have their basis in abnormal cell migration and differentiation. Aberrant expression of cystoskeletal proteins appears to be common to the multisystem hamartomas of this disorder and may, in part, underlie their pathogenesis.

Astrocytoma↗
PubMed1982

Types I and III collagens and the activities of prolyl hydroxylase and galactosylhydroxylysyl glucosyltransferase in skin lesions of tuberous sclerosis.

Collagen synthesis and the ratios of collagen types I and III were assayed from the skin lesions of five subjects with tuberous sclerosis. Collagen synthesis, measured by the activities of prolyl hydroxylase and galactosylhydroxylysyl glucosyltransferase, was clearly increased in three angiofibromas of these patients and in one soft tumour of the face, but it was unchanged in shagreen patches. The total collagen content was decreased in angiofibromas, indicating either increased turnover of collagen or an increased amount of cellular or other macromolecular elements in these lesions. The proportions of types I and III collagens, estimated by cyanogenbromide digestion and SDS-gel electrophoresis, were 80-90% and 10-20%, respectively, in all samples except two angiofibromas, in which the relative amount of type III collagen was increased. This may indicate that angiofibromas of tuberous sclerosis are heterogenous with respect to the collagen types they contain, and that there may be disturbed cell growth or collagen synthesis, with individual variation from case to case.

Adult↗
PubMed1993

Localized pachydermodactyly in tuberous sclerosis.

Pachydermodactyly refers to a rare form of digital fibromatosis involving the proximal portions of the fingers. There are only nine cases reported in the literature, all idiopathic and occurring in young men. We report a 5-year-old Chinese boy with tuberous sclerosis who presented with localized pachydermodactyly since birth. This congenital form of pachydermodactyly may represent an additional cutaneous sign of tuberous sclerosis.

Child, Preschool↗
PubMed1990

Renal angiomyolipomas: could the histology serve as a marker for tuberous sclerosis?

The histological features of 43 renal angiomyolipomas were studied in an attempt to evaluate whether the isolated forms and those that present as part of the tuberous sclerosis complex can be distinguished. In two patients the mass was classified as an angioleiomyoma, because no adipose tissue was present. All renal angiomyolipomas showed the same basic histological picture. The combined forms, however, showed additional features such as extension into pre-existent renal parenchyma, scattered foci of hamartomatous lesions, calcified spicules and tubular inclusions. The findings suggest that these features, in an otherwise classical angiomyolipoma, should alert the pathologist to the possibility of tuberous sclerosis.

Biomarkers↗
PubMed1991

Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3).

We report on an 8-year-old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X-ray CT findings of the skull characteristics for tuberous sclerosis. At the age of 9 years, first signs of adenoma sebaceum developed. Chromosomal analysis revealed a translocation t(3;12)(p26.3;q23.3). The parents were both healthy and had normal karyotypes. As non-random association of a chromosomal abnormality and tuberous sclerosis is hypothesized, a third locus for this disorder on 3p26 or 12q23 has to be taken in account.

Autistic Disorder↗
PubMed1992

Pitted enamel hypoplasia in tuberous sclerosis.

Thirty patients with tuberous sclerosis (from 29 different families) were examined for evidence of macroscopically visible pitted enamel hypoplasia. Of 23 patients with permanent teeth, 11 (48%) showed multiple enamel pits (mean 4.6 pits, range 3-9), but none were seen in six patients with deciduous teeth. Five of 563 controls (0.88%) had similar pitted enamel hypoplasia. Simple dental examination may be a useful adjunct in the assessment of patients with permanent teeth when a diagnosis of tuberous sclerosis is being considered, but is less likely to be helpful in the pre-school child.

Adolescent↗
PubMed1989

Selective epilepsy surgery in tuberous sclerosis.

A patient with tuberous sclerosis diagnosed at the age of 5 years developed an intractable seizure disorder characterized by complex partial seizures numbering 10-20/day. Interictal electroencephalograms (EEG) showed a right frontal epileptogenic focus. A computerized tomography scan demonstrated calcification in the right frontal region at two sites, periventricular calcification and multiple low density lesions. Neuropsychological assessment showed a verbal intelligence quotient (IQ) of 69 and a performance IQ of 88. Telemetry and video monitoring recorded 10 seizures during which the EEG showed flattening of ongoing sharp wave activity in the right frontal region. Electrocorticography further identified and localized epileptogenic tissue in the right frontal cortex and surgical removal of involved tissue and the adjacent two tubers was carried out. Twelve months after surgery the patient has had only two brief seizures.

Child, Preschool↗
PubMed1990

Neonatal tuberous sclerosis with heart and brain tumors.

A 6-day-old neonate with tuberous sclerosis having brain and cardiac tumors is reported. The patient presented with a seizure 20 minutes after birth. Cranial ultrasonography and computed tomography on admission showed a large and round high-density tumor lesion in the left frontal lobe. Echocardiography also showed a large tumor lesion beside the left ventricle wall, and a diagnosis of tuberous sclerosis was promptly made. Two months later, a periventricular calcified lesion was found on the demonstrated portion, and the tumor lesion initially observed in the brain had disappeared. These findings suggest that the initial tumor lesion found in the brain developed into a typical calcified lesion.

Brain Neoplasms↗
PubMed1987

Tuberous sclerosis mimicking adult polycystic kidney disease.

Tuberous sclerosis is a recognised cause of renal disease, usually angiomyolipomas but also cysts; it usually presents in childhood. A father and son are reported with familial tuberous sclerosis presenting in adulthood and mimicking polycystic kidney disease.

Adolescent↗
PubMed2006

Manipulation of starch granule size distribution in potato tubers by modulation of plastid division.

Starch granule size is an important parameter for starch applications in industry. Starch granules are formed in amyloplasts, which are, like chloroplasts, derived from proplastids. Division processes and associated machinery are likely to be similar for all plastids. Essential roles for FtsZ proteins in plastid division in land plants have been revealed. FtsZ forms the so-called Z ring which, together with inner and outer plastid division rings, brings about constriction of the plastid. It has been shown that modulation of the expression level of FtsZ may result in altered chloroplast size and number. To test whether FtsZ is also involved in amyloplast division and whether this, in turn, may affect the starch granule size in crop plants, FtsZ protein levels were either reduced or increased in potato. As shown previously in other plant species, decreased StFtsZ1 protein levels in leaves resulted in a decrease in the number of chloroplasts in guard cells. More interestingly, plants with increased StFtsZ1 protein levels in tubers resulted in less, but larger, starch granules. This suggests that the stoichiometry between StFtsZ1 and other components of the plastid division machinery is important for its function. Starch from these tubers also had altered pasting properties and phosphate content. The importance of our results for the starch industry is discussed.

Amino Acid Sequence↗
PubMed1983

Tuberous sclerosis: a survey of 97 cases. II: Physical findings.

Physical signs, excluding epilepsy, were studied in 97 individuals with tuberous sclerosis. While the red facial rash (adenoma sebaceum) is taken to be one of the classic symptoms, depigmented skin macules were more common. The depigmented patches and raised areas (shagreen patches) appeared in early childhood, and sometimes were present at birth. Other skin problems were common. Although the tuberous sclerotic lesions are known also to cause kidney problems, few individuals had been examined thoroughly to detect these difficulties.

Adolescent↗
PubMed1987

Psychiatric disorder among children with tuberous sclerosis.

The psychiatric status of 90 children with tuberous sclerosis was investigated. Over 50 per cent of the sample showed psychotic behaviour, 59 per cent were hyperkinetic and 13 per cent severely aggressive. 57 per cent of the children who had infantile spasms were autistic, as opposed to 13 per cent in a Finnish study of children who had infantile spasms from all causes. The very high incidence of psychiatric disturbance has implications for the advice doctors should give on the management of children diagnosed to have tuberous sclerosis and for the special educational methods that may be needed.

Adolescent↗
PubMed1994

Autistic behaviour and attention deficits in tuberous sclerosis: a population-based study.

In a population-based sample of 28 individuals under the age of 20 years, autistic symptoms were present in 24 and DSM-III-R autistic disorder in 17. Many of the children and adolescents diagnosed as autistic also showed attention deficit/hyperactivity. There was no specific association between autistic behaviour and the presence of infantile spasms. Some of the children with tuberous sclerosis and autism were of near-normal intelligence. Indirectly, the results suggest that as many as 9 per cent of all children with autism may have tuberous sclerosis.

Adolescent↗
PubMed1994

Sleep disorder and epilepsy in children with tuberous sclerosis: a questionnaire-based study.

Sleep disorders were investigated in 40 children with tuberous sclerosis (TS) and compared with those found in non-disabled children and those reported in a mixed group with learning disabilities. Significantly higher levels of sleep disturbance were found in the TS group compared with both other groups. Within the TS group, current epilepsy and a high level of daytime behavioural disturbance were significantly associated with sleep disturbance, but pervasive developmental delay and high parental stress levels were not. Detailed study of the relationship between seizure activity and sleep disturbance in tuberous sclerosis is needed.

Adolescent↗
PubMed1996

Cranial computed tomographic findings in tuberous sclerosis are not affected by sex.

Males with the tuberous sclerosis complex (TSC) have been shown to be more at risk of learning disorder than females. A retrospective population based study was undertaken to see if males with TSC have more cerebral lesions than females. 47 of 131 individuals with TSC identified in a prevalence study had a cranial CT scan available for review. No significant difference between the sexes was found in the number of subependymal nodules or the number, site or size of parenchymal lesions. However, males with five or fewer parenchymal lesions were at greater risk of learning disorder than females. The increased risk of learning disorder in males with tuberous sclerosis is not accounted for by an increase in number, site or size of cranial lesions as seen on CT scans. Therefore there must be an alternative mechanism to account for this difference between the sexes.

Adult↗
PubMed2004

The salvage of graft occlusion in a maintenace hemodialysis patient with tuberous sclerosis by percutaneous transluminal angioplasty using intravascular ultrasound: case report.

End-stage renal failure due to tuberous sclerosis is rare and there is no previous report of a patient with tuberous sclerosis undergoing long-term hemodialysis for over 18 years. The patency rate for a dialysis prosthetic graft is low, however, our patient's graft survived over 16 years. For thrombotic occlusion of a graft, we performed percutaneous thrombectomy and balloon angioplasty and salvaged graft occlusion. Moreover, this case is the first report in which the interventional procedure (mechanical thrombectomy and balloon angioplasty) could be observed by intravascular ultrasound in addition to angiography.

Aged↗