CYP2R1 mutations causing vitamin D-deficiency rickets
Tài liệu tham khảo
Zhu, 2013, CYP2R1 is a major, but not exclusive, contributor to 25-hydroxyvitamin D production in vivo, Proc. Natl. Acad. Sci. U. S. A., 110, 15650, 10.1073/pnas.1315006110
Gascon-Barre, 2005, The vitamin D 25-hydroxylase, 47
Gallus, 2006, Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene, Neurol. Sci., 27, 143, 10.1007/s10072-006-0618-7
Rosen, 1998, Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene, J. Biol. Chem., 273, 14805, 10.1074/jbc.273.24.14805
Cheng, 2003, De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxylase, J. Biol. Chem., 278, 38084, 10.1074/jbc.M307028200
Jolliffe, 2015, Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes: review of genetic association studies, J. Steroid Biochem. Mol. Biol.
Wang, 2010, Common genetic determinants of vitamin D insufficiency: a genome-wide association study, Lancet, 376, 180, 10.1016/S0140-6736(10)60588-0
Strawbridge, 2014, A serum 25-hydroxyvitamin D concentration-associated genetic variant in DHCR7 interacts with type 2 diabetes status to influence subclinical atherosclerosis (measured by carotid intima-media thickness), Diabetologia, 57, 1159
Choudhary, 2005, Expression patterns of mouse and human CYP orthologs (families 1–4) during development and in different adult tissues, Arch. Biochem. Biophys., 436, 50, 10.1016/j.abb.2005.02.001
Foresta, 2010, Testiculopathy and vitamin D insufficiency, Lancet, 376, 1301, 10.1016/S0140-6736(10)61916-2
Foresta, 2011, Bone mineral density and testicular failure: evidence for a role of vitamin D 25-hydroxylase in human testis, J. Clin. Endocrinol. Metab., 96, E646, 10.1210/jc.2010-1628
Munns, 2016, Global consensus recommendations on prevention and management of nutritional rickets, J. Clin. Endocrinol. Metab., 101, 394, 10.1210/jc.2015-2175
Munns, 2016, Global consensus recommendations on prevention and management of nutritional rickets, Horm. Res. Paediatr., 85, 83, 10.1159/000443136
Thacher, 2006, Nutritional rickets around the world: causes and future directions, Ann. Trop. Paediatr., 26, 1, 10.1179/146532806X90556
Aggarwal, 2012, Role of calcium deficiency in development of nutritional rickets in Indian children: a case control study, J. Clin. Endocrinol. Metab., 97, 3461, 10.1210/jc.2011-3120
Fischer, 1999, Nutritional rickets without vitamin D deficiency in Bangladesh, J. Trop. Pediatr., 45, 291, 10.1093/tropej/45.5.291
Thacher, 2000, Case-control study of factors associated with nutritional rickets in Nigerian children, J. Pediatr., 137, 367, 10.1067/mpd.2000.107527
Pettifor, 2014, Calcium and vitamin D metabolism in children in developing countries, Ann. Nutr. Metab., 64, 15, 10.1159/000365124
Casella, 1994, A possible genetic defect in 25-hydroxylation as a cause of rickets, J. Pediatr., 124, 929, 10.1016/S0022-3476(05)83184-1
Cheng, 2004, Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase, Proc. Natl. Acad. Sci. U. S. A., 101, 7711, 10.1073/pnas.0402490101
Thacher, 2015, CYP2R1 mutations impair generation of 25-hydroxyvitamin D and cause an atypical form of vitamin D deficiency, J. Clin. Endocrinol. Metab., 100, E1005, 10.1210/jc.2015-1746
Thacher, 2015, Comparison of limestone and ground fish for treatment of nutritional rickets in children in Nigeria, J. Pediatr., 167, 148, 10.1016/j.jpeds.2015.02.008
Thacher, 2000, Radiographic scoring method for the assessment of the severity of nutritional rickets, J. Trop. Pediatr., 46, 132, 10.1093/tropej/46.3.132
Goncalves, 2015, Fat-soluble vitamin intestinal absorption: absorption sites in the intestine and interactions for absorption, Food Chem., 172, 155, 10.1016/j.foodchem.2014.09.021
Reboul, 2011, Vitamin D intestinal absorption is not a simple passive diffusion: evidences for involvement of cholesterol transporters, Mol. Nutr. Food Res., 55, 691, 10.1002/mnfr.201000553
Reboul, 2011, Proteins involved in uptake, intracellular transport and basolateral secretion of fat-soluble vitamins and carotenoids by mammalian enterocytes, Prog. Lipid Res., 50, 388, 10.1016/j.plipres.2011.07.001
Fu, 1997, Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1, Mol. Endocrinol., 11, 1961
Wang, 2002, Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro, J. Clin. Endocrinol. Metab., 87, 2424
Malloy, 1999, The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets, Endocr. Rev., 20, 156
Malloy, 2006, A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia, Arch. Biochem. Biophys., 460, 285, 10.1016/j.abb.2006.09.027
Chen, 2003, Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance, Proc. Natl. Acad. Sci. U. S. A., 100, 6109, 10.1073/pnas.1031395100
Al Mutair, 2012, Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency, J. Clin. Endocrinol. Metab., 97, E2022, 10.1210/jc.2012-1340