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Your search keyword '"Rothmund-Thomson Syndrome genetics"' showing total 5 results
Start Over Descriptor "Rothmund-Thomson Syndrome genetics" Language japanese
5 results on '"Rothmund-Thomson Syndrome genetics"'

1. [Rothmund-Thomson syndrome].

Author

Kuniba H, Egashira M, Motomura H, Motomura K, and Kondoh T

Subjects
Diagnosis, Differential, Humans, Mutation, Prognosis, RecQ Helicases genetics, Rothmund-Thomson Syndrome diagnosis, Rothmund-Thomson Syndrome genetics, Rothmund-Thomson Syndrome physiopathology, Rothmund-Thomson Syndrome therapy
Published
2006

2. [RecQ family helicases].

Author

Seki M and Enomoto T

Subjects
Animals, Bloom Syndrome genetics, DNA Replication genetics, Genomic Instability, Humans, RecQ Helicases, Recombination, Genetic genetics, Rothmund-Thomson Syndrome genetics, Werner Syndrome genetics, Adenosine Triphosphatases physiology, DNA Helicases physiology
Published
2004

3. [Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases].

Author

Ichikawa K, Noda T, and Furuichi Y

Subjects
Animals, Humans, Mice, Aging, Premature genetics, Bloom Syndrome genetics, DNA Helicases genetics, Disease Models, Animal, Gene Targeting, Mice, Knockout, Mutation, Rothmund-Thomson Syndrome genetics, Werner Syndrome genetics
Abstract

The list of human RecQ helicase comprises RecQ1, BLM (Bloom syndrome), WRN (Werner syndrome), RTS (Rothmund-Thomson syndrome), and RecQ5. Of these, the defective BLM, WRN, and RTS helicases are responsible for distinct but overlapping clinical features suggesting premature aging and an enhanced risk of cancer, which apparently stems from chromosomal instability in the cells of tissues and organs where expression of the helicase genes are specified. In an effort to obtain an animal model for these diseases, we performed gene target experiments to generate the WRN and RTS knockout mice.

Published
2002
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5. [Rothmund-Thomson's syndrome--a case demonstrating prominent hyperkeratosis and literature review].

Author

Aso K, Yamamoto S, Kondo S, and Shimoura T

Subjects
Adult, DNA Repair, Humans, Male, Rothmund-Thomson Syndrome diagnosis, Rothmund-Thomson Syndrome genetics, Keratoderma, Palmoplantar pathology, Rothmund-Thomson Syndrome pathology, Skin pathology
Abstract

A patient, 21-year-old japanese man demonstrating many of the changes seen in the Rothmund-Thomson's syndrome is presented. In particular the hyperkeratosis palmo-plantar hyperkeratosis and warty hyperkeratosis on the hand and feet are prominent clinical features in this patient. The literatures describing hyperkeratosis in the Rothmund-Thomson's syndrome are reviewed and the clinical feature as well as diagnostic value of the hyperkeratosis is discussed.

Published
1990

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