|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The man alone also carried novel heterozygous missense variants within two additional genes that condition mineral homeostasis and are the basis for autosomal recessive disorders: CYP27B1 underlying vitamin D dependent rickets, type 1, and ABCC6 underlying both generalized arterial calcification of infancy, type 2 and pseudoxanthoma elasticum (PXE).
|
31843680 |
2020 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A
|
30282619 |
2019 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to identify the CYP27B1 mutations and investigate the response to long-term treatment of calcitriol in Chinese patients with PDDR.
|
30382318 |
2019 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CYP27B1 cause 1α-hydroxylase deficiency, also known as vitamin D dependent rickets type I or hereditary pseudo-vitamin D deficient rickets; very rare mutations in CYP2R1 can cause 25-hydroxylase deficiency.
|
27060335 |
2017 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A genetic analysis of the CYP27B1 gene was conducted in 22 Turkish patients with VDDR1 from 13 families.
|
26982175 |
2016 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CYP27B1 gene analysis showed compound heterozygous mutations confirming VDDR-1.
|
27399352 |
2016 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We aimed to describe the clinical and laboratory findings in a VDDR-1A case and to report a novel homozygote truncating mutation NM_000785.3 c.403C>T (p.Q135*) in CYP27B1 which to our knowledge is the first described mutation in the Uzbek population.
|
27353739 |
2016 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A.
|
25284246 |
2015 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder.
|
26132292 |
2015 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two brothers with VDDR1A were recruited who had null mutations of CYP27B1 which encodes 1-alpha-hydroxylase of vitamin D. We investigated the relationship between U-Ca/Cr and intact-PTH around puberty when the brothers showed hypocalcemia with secondary hyperparathyroidism.
|
25284246 |
2015 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A.
|
24197768 |
2014 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An association has previously been reported between susceptibility to multiple sclerosis and the rare mutant alleles of the CYP27B1 gene responsible for autosomal recessive vitamin D-dependent rickets type 1 (VDDR1).
|
23444327 |
2013 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells.
|
23423976 |
2013 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.
|
22443290 |
2012 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700) is a rare autosomal recessive disorder and is caused by mutations in the CYP27B1 gene.
|
22443290 |
2012 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The study describes nine novel mutations in addition to 37 known mutations of CYP27B1 gene and shows the correlation between these mutations and the clinical findings of 1α-hydroxylase deficiency.
|
22588163 |
2012 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy.
|
21700898 |
2011 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Vitamin D-dependent rickets type 1 (VDDR-I) is caused by mutation in CYP27B1.
|
21604088 |
2011 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Vitamin D-dependent rickets type 1 is an autosomal recessive disorder caused by an inactivating mutation of the 25-hydroxyvitamin-D-1α-hydroxylase (CYP27B1) gene.
|
21700898 |
2011 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the CYP27B1 mutation in a large family with VDDR-I and characterize the genotype-phenotype correlation.
|
20534770 |
2010 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Vitamin D-dependent rickets type I (VDDR I) (OMIM 264700) is a rare hereditary condition caused by a mutation in CYP27B1.
|
18541802 |
2008 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1.
|
15972816 |
2005 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
|
12050193 |
2002 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
|
12050193 |
2002 |
|
Vitamin D-dependent rickets, type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX).
|
11737215 |
2001 |