Genetics of Vitamin D 1α-Hydroxylase Deficiency in 17 Families
نویسندگان
چکیده
منابع مشابه
Vitamin D deficiency and stroke
Vitamin D comprises a group of fat-soluble pro-hormones, obtained from sun exposure, food, and supplements, and it must undergo two hydroxylation reactions to be activated in the body. Several studies have shown the role of vitamin D in mineral metabolism regulation, especially calcium, phosphorus, and bone metabolism. Some factors such as inadequate vitamin intake and liver or kidney disorders...
متن کاملVitamin D 1 -Hydroxylase Gene Mutations in Patients with 1 -Hydroxylase Deficiency
Department of Pediatrics (C.J.K., L.E.K., F.P., N.H., W.L.M., A.A.P.), University of California, San Francisco, San Francisco, California 94143; Pediatric Nephrology (A.S.), MassGeneral Hospital for Children, Massachusetts General Hospital and Harvard School of Medicine, Boston, Massachusetts 02114; and Department of Pediatrics (Y.C.), Seoul National University Children’s Hospital, Seoul 110-74...
متن کاملA case of 17 alpha-hydroxylase deficiency
17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the exces...
متن کاملCo-expression of 1α-hydroxylase and vitamin D receptor in human articular chondrocytes
BACKGROUND The aim was to investigate whether resident chondrocytes in human articular cartilage and in subculture express vitamin D receptor (VDR) and the enzyme that hydroxylates the prohormone 25(OH)D3 to the active hormone 1α,25(OH)2D3, namely 1α-hydroxylase (CYP27B1). Any putative effects of vitamin D on chondrocytes were also explored. METHODS Cartilage from human osteoarthritic knee jo...
متن کاملVitamin D Deficiency and its Relation with Cancer in Children
Vitamin D deficiency is known as the most common nutritional deficiency. It is created during infancy due to different factors, including decreased dietary intake, decreased dermal synthesis, malabsorption, enzyme-inducing medications, and exclusive breastfeeding. Vitamin D deficiency is associated with poor bone health such as rickets and osteomalacia in children. Despite vitamin D plays an im...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1998
ISSN: 0002-9297
DOI: 10.1086/302156