Mutation of the CYP2R1 Vitamin D 25-Hydroxylase in a Saudi Arabian Family with Severe Vitamin D Deficiency
AN Al Mutair, GH Nasrat… - The Journal of Clinical …, 2012 - academic.oup.com
Context: Inherited forms of vitamin D deficiency are rare causes of rickets and to date have
been traced to mutations in three genes, VDR, encoding the 1α, 25-dihydroxyvitamin D …
been traced to mutations in three genes, VDR, encoding the 1α, 25-dihydroxyvitamin D …
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency
TD Thacher, PR Fischer, RJ Singh… - The Journal of …, 2015 - academic.oup.com
Context: Production of the active vitamin D hormone 1, 25-dihydroxyvitamin D requires
hepatic 25-hydroxylation of vitamin D. The CYP2R1 gene encodes the principal vitamin D …
hepatic 25-hydroxylation of vitamin D. The CYP2R1 gene encodes the principal vitamin D …
CYP2R1 mutations causing vitamin D-deficiency rickets
TD Thacher, MA Levine - The Journal of steroid biochemistry and …, 2017 - Elsevier
CYP2R1 is the principal hepatic 25-hydroxylase responsible for the hydroxylation of parent
vitamin D to 25-hydroxyvitamin D [25 (OH) D]. Serum concentrations of 25 (OH) D reflect …
vitamin D to 25-hydroxyvitamin D [25 (OH) D]. Serum concentrations of 25 (OH) D reflect …
Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
A Molin, A Wiedemann, N Demers… - Journal of Bone and …, 2017 - academic.oup.com
Vitamin D requires a two‐step activation by hydroxylation: The first step is catalyzed by
hepatic 25‐hydroxylase (CYP2R1, 11p15. 2) and the second one is catalyzed by renal 1α …
hepatic 25‐hydroxylase (CYP2R1, 11p15. 2) and the second one is catalyzed by renal 1α …
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase
JB Cheng, MA Levine, NH Bell… - Proceedings of the …, 2004 - National Acad Sciences
The synthesis of bioactive vitamin D requires hydroxylation at the 1α and 25 positions by
cytochrome P450 enzymes in the kidney and liver, respectively. The mitochondrial enzyme …
cytochrome P450 enzymes in the kidney and liver, respectively. The mitochondrial enzyme …
A Novel G102E Mutation of CYP27B1 in a Large Family with Vitamin D-Dependent Rickets Type 1
AS Alzahrani, M Zou, EY Baitei… - The Journal of …, 2010 - academic.oup.com
Context: Mutations in the CYP27B1 gene, which encodes vitamin D 1α-hydroxylase, are the
genetic basis for vitamin D-dependent rickets type 1 (VDDR-I). Objective: The aim of this …
genetic basis for vitamin D-dependent rickets type 1 (VDDR-I). Objective: The aim of this …
Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A
The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene
cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare …
cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare …
Genotype and phenotype characteristics in 22 patients with vitamin D-dependent rickets type I
S Tahir, H Demirbilek, MN Ozbek, RT Baran… - Hormone Research in …, 2016 - karger.com
Abstract Background and Aims: Vitamin D-dependent rickets type I (VDDR1) is an
autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha …
autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha …
Clinical and genetic analysis of patients with vitamin D‐dependent rickets type 1 A
E Durmaz, M Zou, RA Al‐Rijjal, İ Bircan… - Clinical …, 2012 - Wiley Online Library
Context Vitamin D‐dependent rickets type 1 A (VDDR‐IA, OMIM 264700) is a rare
autosomal recessive disorder and is caused by mutations in the CYP27B1 gene. Objectives …
autosomal recessive disorder and is caused by mutations in the CYP27B1 gene. Objectives …
Vitamin D 1α-hydroxylase gene mutations in patients with 1α-hydroxylase deficiency
CJ Kim, LE Kaplan, F Perwad, N Huang… - The Journal of …, 2007 - academic.oup.com
Context: Vitamin D 1α-hydroxylase deficiency, also known as vitamin D-dependent rickets
type 1, is an autosomal recessive disorder characterized by the early onset of rickets with …
type 1, is an autosomal recessive disorder characterized by the early onset of rickets with …