Purine and Pyrimidine Metabolism

Autor: Kamatani, Naoyuki, Jinnah, H. A., Hennekam, Raoul C.M., van Kuilenburg, André B.P., Rimoin, D., Pyeritz, R., Korf, B.

Publikováno v: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128125359
Emery and Rimoin's Principles and Practice of Medical Genetics, 1-38
STARTPAGE=1;ENDPAGE=38;TITLE=Emery and Rimoin's Principles and Practice of Medical Genetics

Purine and pyrimidine nucleotides are essential for a vast number of biological processes such as RNA and DNA synthesis and as a component of high-energy nucleotides, e.g., ATP. Polygenic and monogenic diseases are associated with altered purine and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5929b2cdf1ed01b191b94f9716e4cf7f
https://doi.org/10.1016/b978-0-12-812535-9.00006-6

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

Autor: Hästbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S.

Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia (DTD). The similarity suggests a shared pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::58362ed8b105bdae6441e7bbfd9dd8f6
https://europepmc.org/articles/PMC1914552/

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

Autor: Tiller, G E, Weis, M A, Polumbo, P A, Gruber, H E, Rimoin, D L, Cohn, D H, Eyre, D R

Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e273a4e9f28792e2fa1ecfc56302a86
https://europepmc.org/articles/PMC1801144/

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Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis

Autor: Gruber, H E, Lachman, R S, Rimoin, D L

Knowledge of the structure of cartilage vascular canals is important for a more thorough understanding of the development of cartilage and the growth plate in the human neonate and growing child. We have studied the costochondral junction of 6 normal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::095ef3bbce74323bfc620e14d8baa4b4
https://europepmc.org/articles/PMC1256081/