منابع مشابه
LC-MS/MS for Identifying Patients with CYP24A1 Mutations.
BACKGROUND Patients have been described with loss-of-function CYP24A1 (cytochrome P450, family 24, subfamily A, polypeptide 1) mutations that cause a high ratio of 25-hydroxyvitamin D to 24,25-dihydroxyvitamin D [25(OH)D/24,25(OH)2D], increased serum 1,25-dihydroxyvitamin D, and resulting hypercalcemia, hypercalciuria and nephrolithiasis. A 25(OH)D/24,25(OH)2D ratio that can identify patients w...
متن کاملInflammatory Conditions Induce IRES-Dependent Translation of cyp24a1
Rapid alterations in protein expression are commonly regulated by adjusting translation. In addition to cap-dependent translation, which is e.g. induced by pro-proliferative signaling via the mammalian target of rapamycin (mTOR)-kinase, alternative modes of translation, such as internal ribosome entry site (IRES)-dependent translation, are often enhanced under stress conditions, even if cap-dep...
متن کاملCYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia
Idiopathic infantile hypercalcemia (IIH) was associated with vitamin-D supplementation in the 1950's. Fifty years later, mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. We report a case of a 21-month old girl, initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed...
متن کاملCYP24A1 Expression Inversely Correlates with Melanoma Progression: Clinic-Pathological Studies
The major role of 24-hydroxylase (CYP24A1) is to maintain 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) homeostasis. Recently, it has been discovered that CYP24A1 also catalyses the hydroxylation of 20(OH)D3, producing dihydroxy-derivatives that show very effective antitumorigenic activities. Previously we showed a negative correlation of vitamin D receptor (VDR) and CYP27B1 expression with progressio...
متن کاملCYP24A1 Is an Independent Prognostic Marker of Survival in Patients with Lung Adenocarcinoma Running Title: CYP24A1 Prognostic Marker in Lung Adenocarcinoma
Authors’ Affiliations: Section of Thoracic Surgery, Department of Surgery, Division of Medical Oncology, Department of Medicine, Biostatistics Unit, Comprehensive Cancer Center, Department of Pharmacology, School of Medicine, Division of Pulmonary Medicine, Department of Medicine, Department of Pathology, University of Michigan, Ann Arbor, MI 48109 and the Veterans Administration Medical Center...
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ژورنال
عنوان ژورنال: Nature Reviews Nephrology
سال: 2016
ISSN: 1759-5061,1759-507X
DOI: 10.1038/nrneph.2016.16