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Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association (2000)

Lee, C.-C. ; Wu, J.-Y. ; Tsai, F.-J. ; [et al.]

Springer

Journal of human genetics 45 (2000), S. 275-279

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ISSN: 1435-232X

Keywords: Key words Wilson disease (WND) ; ATP7B ; Mutation analysis ; Haplotype analysis ; Short tandem repeat (STR) markers ; Taiwanese

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract Wilson disease (WND) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B). Twelve different mutations have previously been identified in Taiwan Chinese with Wilson disease. We, herein, report another 4 missense mutations, 1 of which is novel. We did haplotype analysis of Taiwanese WND chromosomes, using three well characterized short tandem repeat markers (haplotype was assigned in the order of D13S314-D13S301-D13S316). Association correlation was found between the mutations and their respective haplotypes. Haplotype-deduced pedigree analysis was shown to be helpful in the mutation analysis of WND chromosomes and in the molecular assessment of both pre-symptomatic WND patients and carriers. Given the complexity and heterogeneity of the mutation spectrum of ATP7B, we suggest that haplotype analysis should be performed before full-scale mutation analysis.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s100380070015

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Increased density of glutamic acid decarboxylase - containing terminals in the medial preoptic nucleus and the area surrounding the paraventricular hypothalamic nucleus is associated with deoxycorticosterone acetate (DOCA)-salt hypertension (1990)

Zappia, Anthony ; Hwang, Bang H. ; Wu, J.- Y.

New York, NY [u.a.] : Wiley-Blackwell

The @Anatomical Record 227 (1990), S. 518-522

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ISSN: 0003-276X

Keywords: Life and Medical Sciences ; Cell & Developmental Biology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Medicine

Notes: γ-Aminobutyric acid (GABA) is a major inhibitory neurotrans-mitter and has been shown to exert considerable influence on the neural control of the cardiovascular function. It is not clear, however, which GABAergic systems are involved in salt-induced hypertension. This study was designed to investigate the GABAergic neurons in specific regions of the brain possibly linked to salt-induced hypertension. After 4 weeks of deoxycorticosterone acetate (DOCA) and salt treatments, the rats developed cardiac hypertrophy. All of the animals were sacrificed for immunocytochemical localization of GABAergic terminals using specific antibodies to glutamic acid decarboxylase (GAD). GAD-positive GABAergic terminal densities in discrete regions of the brain were determined by using morphometric quantitation. Results showed that GABAergic terminal densities in the medial preoptic nucleus and the area lateral to the paraventricular hypothalamic nucleus were significantly increased in DOCA-salt-treated rats 4 weeks after the experiment as compared with 4 week controls. This study provides new evidence to support further the idea that central GABAergic neurons are closely associated with pathogenesis of salt-induced hypertension. Different hypertensive mechanisms between salt-induced hypertension and genetic hypertension are also discussed.

Additional Material: 1 Ill.