Associated Papers
Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.
Kang TY et al.
Medicina (kaunas, Lithuania), 2025
Impact of the CYP27B1 p.R389H mutation on protein stability and function: implications for multiple sclerosis pathogenesis.
Kiani RA et al.
Scientific Reports, 2025
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.
Toral López J et al.
Diseases (basel, Switzerland), 2024
Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.
Wang LK et al.
American Journal of Medical Genetics. Part A, 2024
The impact of genetic variants related to vitamin D and autoimmunity: A systematic review.
Trefilio LM et al.
Heliyon, 2024
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
Fortin CA et al.
Frontiers in Endocrinology, 2022
Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.
Shademan B et al.
Neuromolecular Medicine, 2021
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
Kaygusuz SB et al.
Calcified Tissue International, 2021
Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family.
Mescheriakova JY et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2019
A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene.
Kim YM et al.
Annals of Pediatric Endocrinology & Metabolism, 2019
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.
Özcabı B et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
The Association Between Genetic Polymorphism rs703842 in CYP27B1 and Multiple Sclerosis: A Meta-Analysis.
Jiang T et al.
Medicine, 2016
Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation.
Füchtbauer L et al.
Clinical Case Reports, 2015
Variants of CYP27B1 are associated with both multiple sclerosis and neuromyelitis optica patients in Han Chinese population.
Zhuang JC et al.
Gene, 2015
Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.
Demir K et al.
Plos One, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.
Reinthaler E et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2014
Analysis of CYP27B1 in multiple sclerosis.
Ross JP et al.
Journal of Neuroimmunology, 2014
Cytochromes p450: roles in diseases.
Pikuleva IA et al.
The Journal of Biological Chemistry, 2013
No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.
Ban M et al.
Annals of Neurology, 2013
No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis.
Barizzone N et al.
Annals of Neurology, 2013
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.
Durmaz E et al.
Clinical Endocrinology, 2012
Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients.
Cui N et al.
Bone, 2012
The genetics of multiple sclerosis: an up-to-date review.
Gourraud PA et al.
Immunological Reviews, 2012
Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy.
Yan Y et al.
Journal of Child Neurology, 2011
Rare variants in the CYP27B1 gene are associated with multiple sclerosis.
Ramagopalan SV et al.
Annals of Neurology, 2011
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria.
Søvik O et al.
Acta Paediatrica (oslo, Norway : 1992), 2008
Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.
Kim CJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Enzymes involved in the activation and inactivation of vitamin D.
Prosser DE et al.
Trends in Biochemical Sciences, 2004
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
Wang X et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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).
Sawada N et al.
European Journal of Biochemistry, 2001
Human 25-hydroxyvitamin D-1alpha-hydroxylase: cloning, mutations, and gene expression.
Portale AA et al.
Pediatric Nephrology (berlin, Germany), 2000
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
Wang JT et al.
American Journal of Human Genetics, 1998
Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.
Dhull RS et al.
Jornal Brasileiro De Nefrologia, 0