Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
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Genetic Disorders of Vitamin D MetabolismDrug off-target effects predicted using structural analysis in the context of a metabolic network modelGenetic disorders of calcium and phosphorus metabolism.Drug-metabolizing enzymes, polymorphisms and interindividual response to environmental toxicants.A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.Vitamin D dependent rickets type IFGF-23 regulates CYP27B1 transcription in the kidney and in extra-renal tissues.Structure-function relationships of vitamin D including ligand recognition by the vitamin D receptor.Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system.Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.The initiation and prevention of multiple sclerosis.Reduced parathyroid hormone-stimulated 1,25-dihydroxyvitamin d production in vitamin d sufficient postmenoposual women with low bone mass and idiopathic secondary hyperparathyroidism.Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunctionCase report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation.Human cytochromes P450 in health and diseaseAssociation of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.Cytochromes p450: roles in diseasesLong-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.Transplantation of bone marrow-derived mesenchymal stem cells rescues partially rachitic phenotypes induced by 1,25-Dihydroxyvitamin D deficiency in mice.Vitamin D metabolism and rickets in domestic animals: a review.VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients.A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.Seizure as a presenting manifestation of vitamin D dependent rickets type 1.Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.Defective CYP27B1 does not hydroxylate CDLEnzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli.Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy.Genetic Causes of Rickets.Rare variants in the CYP27B1 gene are associated with multiple sclerosis.Animal Models for Retinoid Receptor Research: Implications for Epidermal Homeostasis, Skin Barrier Function, Wound Healing, and Atopic Dermatitis1,25-Dihydroxyvitamin D suppresses M1 macrophages and promotes M2 differentiation at bone injury sites
P2860
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P2860
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@ast
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@en
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@nl
type
label
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@ast
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@en
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@nl
prefLabel
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@ast
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@en
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@nl
P2093
P2860
P921
P356
P1476
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
@en
P2093
A A Portale
S M Burridge
W L Miller
P2860
P304
P356
10.1086/302156
P407
P577
1998-12-01T00:00:00Z