|
Mitchell-Riley Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes.
|
25048417 |
2015 |
|
Mitchell-Riley Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Mitchell-Riley Syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.
|
21965172 |
2011 |
|
Mitchell-Riley Syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
This is the first reported case of a classical Mitchell-Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene.
|
26761945 |
2016 |
|
Mitchell-Riley Syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Rfx6 directs islet formation and insulin production in mice and humans.
|
20148032 |
2010 |
|
Mitchell-Riley Syndrome
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Mitchell-Riley Syndrome
|
0.750 |
AlteredExpression
|
disease |
BEFREE |
In this context, we studied the role of the transcription factor Rfx6 which had been identified as the cause of Mitchell-Riley syndrome, characterized by neonatal diabetes and congenital malabsorptive diarrhea.
|
31668390 |
2019 |
|
Mitchell-Riley Syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations in rfx6 were recently associated with Mitchell-Riley syndrome, which involves neonatal diabetes, and other digestive system defects.
|
21215266 |
2011 |
|
Mitchell-Riley Syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
We describe Mitchell-Riley syndrome in two sisters with two novel compound heterozygous variants in the RFX6 gene: c.1154G > A, p.(Arg385Gln), and c.1316_1319delTCTA, p.(Ile439Thrfs*13).
|
27523286 |
2016 |
|
Mitchell-Riley Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome.
|
26264437 |
2015 |
|
Mitchell-Riley Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population.
|
27167055 |
2016 |
|
Mitchell-Riley Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome.
|
26264437 |
2015 |
|
Mitchell-Riley Syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.
|
25497100 |
2014 |
|
Mitchell-Riley Syndrome
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Mitchell-Riley Syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Mitchell-Riley Syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
After other gene testing was negative, the clinical diagnosis of Mitchell-Riley syndrome was ultimately considered and further genetic analysis revealed a novel missense homozygous variant in RFX6: c.983A>T (p.asp328Val).
|
31275908 |
2019 |
|
Malignant neoplasm of prostate
|
0.460 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
|
20676098 |
2010 |
|
Malignant neoplasm of prostate
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Association of THADA, FOXP4, GPRC6A/RFX6 genes and 8q24 risk alleles with prostate cancer in Northern Chinese men.
|
26537068 |
2016 |
|
Malignant neoplasm of prostate
|
0.460 |
Biomarker
|
disease |
BEFREE |
HOXB13, RFX6 and prostate cancer risk.
|
24473320 |
2014 |
|
Malignant neoplasm of prostate
|
0.460 |
Biomarker
|
disease |
CTD_human |
Together, our results suggest that rs339331 affects prostate cancer risk by altering RFX6 expression through a functional interaction with the prostate cancer susceptibility gene HOXB13.
|
24390282 |
2014 |
|
Malignant neoplasm of prostate
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
In addition, we report here five new loci for prostate cancer susceptibility, at 5p15 (lambda-corrected probability P(GC) = 3.9 x 10(-18)), GPRC6A/RFX6 (P(GC) = 1.6 x 10(-12)), 13q22 (P(GC) = 2.8 x 10(-9)), C2orf43 (P(GC) = 7.5 x 10(-8)) and FOXP4 (P(GC) = 7.6 x 10(-8)).
|
20676098 |
2010 |
|
Malignant neoplasm of prostate
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Case-control analysis of allelic frequency of PCa associated with PCa showed that one of the 6 candidate risk loci, rs339331 in the RFX6 gene, was associated with reduced risk of prostate cancer (odds ratio (OR) = 0.73, 95% confidence interval (CI) =0.57-0.94, P = 0.013) in northern Chinese men.
|
23803082 |
2013 |
|
Malignant neoplasm of prostate
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
We successfully replicated the association of rs13385191 (located in the C2orf43 gene, P = 8.60×10(-5)), rs12653946 (P = 1.33×10(-6)), rs1983891 (FOXP4, P = 6.22×10(-5)), and rs339331 (GPRC6A/RFX6, P = 1.42×10(-5)) with prostate cancer.
|
22662242 |
2012 |
|
Malignant neoplasm of prostate
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Together, our results suggest that rs339331 affects prostate cancer risk by altering RFX6 expression through a functional interaction with the prostate cancer susceptibility gene HOXB13.
|
24390282 |
2014 |
|
Neonatal diabetes mellitus
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
The phenotype of neonatal diabetes with intestinal atresia and biliary agenesis clearly pointed to RFX6 as the causative gene; indeed, whole exome sequencing revealed a novel homozygous RFX6 mutation c.779A>C; p.Lys260Thr (K260T).
|
23914949 |
2014 |