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 |
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 |
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 |
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 |
Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population.
|
27167055 |
2016 |
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 |
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 |
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 |
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 |
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 |
UNIPROT |
Rfx6 directs islet formation and insulin production in mice and humans.
|
20148032 |
2010 |
Mitchell-Riley Syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Mitchell-Riley Syndrome
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Mitchell-Riley Syndrome
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
Mitchell-Riley Syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|