|
rs1057518972
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome.
|
30541476 |
2018 |
|
rs121913279
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg.
|
30180809 |
2018 |
|
rs228503
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MMP2 rs228503 was the only SNP significantly associated with the FMV/MVP syndrome as compared to patients with FMV/MVP without the syndrome (odds ratio 2.41, 95% CI 1.08-5.40, p = 0.032).
|
28750369 |
2018 |
|
rs1800797
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome.
|
28829905 |
2017 |
|
rs2165241
|
|
|
0.010 |
GeneticVariation |
BEFREE |
"TT" genotype of SNP rs2165</span>241 was underrepresented in control group compared with the syndrome (OR=3.85, CI: 95%) and the glaucoma (OR=6.58, CI: 95%) group.
|
27753755 |
2017 |
|
rs121912974
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The activities of cytochrome P450 17A1, 19A1, and 21A2, critical in steroidogenesis, were similar using our purified, full-length, unmodified A287P or WT POR, as were those of several xenobiotic-metabolizing cytochromes P450, indicating that the A287P protein is functionally competent in vitro, despite its functionally deficient phenotypic behavior in vivo Differential scanning calorimetry and limited trypsinolysis studies revealed a relatively unstable A287P compared with WT protein, leading to the hypothesis that the syndrome observed in vivo results from altered POR protein stability.
|
27496950 |
2016 |
|
rs201405525
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The activities of cytochrome P450 17A1, 19A1, and 21A2, critical in steroidogenesis, were similar using our purified, full-length, unmodified A287P or WT POR, as were those of several xenobiotic-metabolizing cytochromes P450, indicating that the A287P protein is functionally competent in vitro, despite its functionally deficient phenotypic behavior in vivo Differential scanning calorimetry and limited trypsinolysis studies revealed a relatively unstable A287P compared with WT protein, leading to the hypothesis that the syndrome observed in vivo results from altered POR protein stability.
|
27496950 |
2016 |
|
rs763823697
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X).
|
25714577 |
2015 |
|
rs774353983
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T>G;p.Y1169X and c.3601C>T;p.R1201X in case 1 and c.3507T>G;p.Y1169X and c.154G>T;p.E52X in case 2), suggesting a diagnosis of THE-S.
|
25976726 |
2015 |
|
rs11696257
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To further assess its role in NSCLP, we investigated 3 identified single nucleotide polymorphisms in MAFB (rs13041247, rs6065259, and rs11696257) and examined them for association with NSCLP in 344 patients and 324 healthy controls in a northern Chinese Han population with a high incidence of the syndrome.
|
24972815 |
2014 |
|
rs4647924
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The syndrome is defined molecularly by a unique point mutation c.749C > G in exon 7 of the FGFR3 gene which results to an amino acid substitution p.Pro250Arg of the protein product.
|
24168007 |
2014 |
|
rs6065259
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To further assess its role in NSCLP, we investigated 3 identified single nucleotide polymorphisms in MAFB (rs13041247, rs6065259, and rs11696257) and examined them for association with NSCLP in 344 patients and 324 healthy controls in a northern Chinese Han population with a high incidence of the syndrome.
|
24972815 |
2014 |
|
rs10850335
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dietary calcium intake appears to be inversely associated with the risk of metabolic syndrome and may modulate susceptibility to the syndrome in subjects who are minor allele carriers of rs6445834 in ARHGEF3, rs10850335 in TBX5, or rs180349 in BUD13.
|
22170361 |
2012 |
|
rs121912664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The larger accumulation of rare CNVs in DBD mutants may contribute to the reported anticipation and severity of the syndrome; likewise the fact that p.R337H individuals do not present the same magnitude of rare CNV accumulation may also explain the maintenance of this mutation at relatively high frequency in some populations.
|
23259501 |
2012 |
|
rs180349
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dietary calcium intake appears to be inversely associated with the risk of metabolic syndrome and may modulate susceptibility to the syndrome in subjects who are minor allele carriers of rs6445834 in ARHGEF3, rs10850335 in TBX5, or rs180349 in BUD13.
|
22170361 |
2012 |
|
rs6445834
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dietary calcium intake appears to be inversely associated with the risk of metabolic syndrome and may modulate susceptibility to the syndrome in subjects who are minor allele carriers of rs6445834 in ARHGEF3, rs10850335 in TBX5, or rs180349 in BUD13.
|
22170361 |
2012 |
|
rs3825942
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The AA genotype of G153D confers XFS risk in this population, as opposed to the GG genotype described in all other populations, suggesting that unidentified genetic or environmental factors independent of these LOXL1 SNPs may influence phenotypic expression of the syndrome.
|
21320968 |
2011 |
|
rs1524107
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the role of the IL-6 (rs1524107-C/T) and IL-6 receptor (IL-6R, rs8192284-A/C, Asp358Ala) SNPs in modulating IL-6 levels and the syndrome.
|
20186139 |
2010 |
|
rs2228145
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the role of the IL-6 (rs1524107-C/T) and IL-6 receptor (IL-6R, rs8192284-A/C, Asp358Ala) SNPs in modulating IL-6 levels and the syndrome.
|
20186139 |
2010 |
|
rs8192284
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the role of the IL-6 (rs1524107-C/T) and IL-6 receptor (IL-6R, rs8192284-A/C, Asp358Ala) SNPs in modulating IL-6 levels and the syndrome.
|
20186139 |
2010 |
|
rs104893810
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only the hallmark triad of the syndrome - consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid uvula - was present in all 6 cases.
|
19875893 |
2009 |
|
rs1131690998
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient with multiple odontogenic keratocysts who failed to fulfill the diagnostic criteria of the syndrome also carried a novel germline mutation (c.317T>G).
|
18302678 |
2008 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In both groups, the MTHFR C677T genotype distribution was not significantly different from the Hardy-Weinberg equilibrium, with a TT homozygous frequency of 21% in subjects with and 18% in those without the syndrome (p=ns). tHcy plasma levels and the degree of insulin-resistance did not differ across MTHFR genotypes in both groups, even after multivariable adjustment.
|
16682831 |
2006 |
|
rs1285524167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
|
17047922 |
2006 |
|
rs80356616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
|
17047922 |
2006 |