Condition: Xanthomatosis, Cerebrotendinous


rs1178393503 in CYP27A1 gene and Xanthomatosis, Cerebrotendinous PMID 11181744 2001 Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.

PMID 17697869 2007 Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.

PMID 9186905 1997 Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.

PMID 26156051 2016 Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

PMID 25983621 2015 Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis.

PMID 10775536 2000 Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

PMID 9790667 1998 A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.

PMID 21955034 2012 Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.

PMID 20402754 2010 Four novel CYP27A1 mutations in seven Italian patients with CTX.

PMID 18227423 2008 The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.

PMID 2019602 1991 Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

PMID 21645175 2011 Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

PMID 12000359 2002 Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

PMID 24746394 2015 [Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].

PMID 26906304 2016 Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.

PMID 8950197 1996 Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene.

PMID 7915755 1994 Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).

PMID 17319284 2007 Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.

PMID 11903362 2002 A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.

PMID 22336472 2012 A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.

PMID 10406988 1999 Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.

PMID 20558929 2010 Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.

PMID 12270007 2002 Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters.

PMID 25941960 2016 Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.

PMID 25447658 2014 Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.

PMID 21958693 2012 Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.

PMID 28623566 2017 Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

PMID 29321515 2018 Nationwide survey on cerebrotendinous xanthomatosis in Japan.

PMID 26861945 2016 Late-onset spinal form xanthomatosis without brain lesion: a case report.

PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 16816916 2006 Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

PMID 14741198 2004 Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene.

PMID 11737215 2001 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).

PMID 23212406 2013 Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.

PMID 8014582 1994 Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

PMID 24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

PMID 16278884 2005 Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

PMID 21345536 2011 [Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis].

PMID 23659550 2014 Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy.

PMID 27455001 2016 [Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].

PMID 10430841 1999 Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.

PMID 8730343 1996 Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy.

PMID 26519892 2015 Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report.

PMID 23659550 2014 Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy.

PMID 21404287 2011 Neurophysiological study in cerebrotendinous xanthomatosis.

PMID 8514861 1993 Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

PMID 27084087 2016 Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27678445 2017 Tendon xanthomas: Not always familial hypercholesterolemia.

PMID 8827518 1996 Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

PMID 9392430 1997 Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

PMID 26937392 2015 Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.

PMID 22878431 2013 Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid.

PMID 27878435 2017 Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

PMID 29242796 2019 Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.

PMID 22197981 2012 Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup.

PMID 14999499 2004 Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.

PMID 9521761 1998 Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients.

PMID 29269672 2018 Whole-exome sequencing assuming recessive inheritance determined his genetic diagnosis to be cerebrotendinous xanthomatosis caused by homozygous mutations (c.410G>A or p.Arg137Gln) in the cytochrome P450 subfamily 27 A1 (CYP27A1) gene.

PMID 8006521 1994 A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis.

PMID 20558929 2010 To our knowledge, this is the first report in which the Arg104Gln mutation is identified in CTX patients.

PMID 29269672 2018 Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.

PMID 17697869 2007 When expressed in E. coli, 3 mutants, K226R, D321G, and P408S, each known to cause clinically CTX, showed modest decreases in reduced CO spectra peak and either no change or decreases of less than 50% in hydroxylation of cholesterol, vitamin D(3), and 1alphaOHD(3) compared with wild type.

PMID 28894950 2018 Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

PMID 27225395 2016 Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.

PMID 25112387 2015 Look carefully to the heels! A potentially treatable cause of spastic paraplegia.

PMID 24584636 2014 Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

PMID 21073839 2011 The neuropathological study confirmed the CTX diagnosis and the sequencing analysis revealed that she was compound heterozygous for two mutations in the CYP27A1 gene: 1435 C > T (exon 7) on one allele and a new mutation, 1017 G > C (exon 5) on the other.

PMID 21764626 2012 Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis.

PMID 12555943 2002 Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

PMID 8931710 1996 Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

PMID 23287330 2015 Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.

PMID 17030721 2006 Presenile cataract: consider cholestanol.