Art

J-GLOBAL ID：201602291886145546   Reference number：16A0995582

A PDE3A mutation in familial hypertension and brachydactyly syndrome

家族性高血圧-短指症候群でのPDE3A変異

Author (13)： BODA Hiroko (Fujita Health Univ., Toyoake, JPN) ,  UCHIDA Hidetoshi (Fujita Health Univ., Toyoake, JPN) ,  TAKAISO Nobue (Fujita Health Univ., Toyoake, JPN) ,  OUCHI Yuya (Fujita Health Univ., Toyoake, JPN) ,  FUJITA Naoko (Fujita Health Univ., Toyoake, JPN) ,  KUNO Asami (Fujita Health Univ., Toyoake, JPN) ,  HATA Tadayoshi (Fujita Health Univ., Toyoake, JPN) ,  NAGATANI Arisa (Fujita Health Univ., Toyoake, JPN) ,  FUNAMOTO Yuri (Fujita Health Univ., Toyoake, JPN) ,  MIYATA Masafumi (Fujita Health Univ., Toyoake, JPN) ,  YOSHIKAWA Tetsushi (Fujita Health Univ., Toyoake, JPN) ,  KURAHASHI Hiroki (Fujita Health Univ., Toyoake, JPN) ,  INAGAKI Hidehito (Fujita Health Univ., Toyoake, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 61  Issue： 8  Page： 701-703  Publication year： Aug. 2016 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *hypertension ,...
Semi thesaurus term： *短指症候群 ,...

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JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J) ,  Clinical medicine on cardiovascular system in general  (GJ01030V)

Substance index (1)： cAMP

Reference (16)：

• Pereda, A., Garin, I., Garcia-Barcina, M., Gener, B., Beristain, E., Ibañez, A. E. et al. Brachydactyly E: isolated or as a feature of a syndrome. Orphanet J. Rare Dis. 8, 141 (2013).
• Bilginturan, N., Zileli, S., Karacadag, S. & Pirnar, T. Hereditary brachydactyly associated with hypertension. J. Med. Genet. 10, 253-259 (1973).
• Schuster, H., Wienker, T. F., Bähring, S., Bilginturan, N., Toka, H. R., Neitzel, H. et al. Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nat. Genet. 13, 98-100 (1996).
• Gong, M., Zhang, H., Schulz, H., Lee, Y. A., Sun, K., Bähring, S. et al. Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p. Hum. Mol. Genet. 12, 1273-1277 (2003).
• Bähring, S., Nagai, T., Toka, H. R., Nitz, I., Toka, O., Aydin, A. et al. Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am. J. Hum. Genet. 60, 732-735 (1997).

Terms in the title (5)： 家族 ,  血圧 ,  短指 ,  症候群 ,  変異