Acidosis, Respiratory
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
SS <sup>Kcnj16-/-</sup> rats chronically treated with bicarbonate or the carbonic anhydrase inhibitor hydrochlorothiazide had partial restoration of arterial pH, but there was a further reduction in the ventilatory response to hypercapnic acidosis.
|
30605394 |
2019 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In this study, by screening a GEO dataset containing 36 microdissected PDAC and matching normal pancreatic tissue samples, four differentially expressed K<sup>+</sup> channels (KCNJ5, KCNJ16, KCNN4 and KCNK1) were identified in PDAC. by immunohistochemical analysis of pancreatic tissue sections from Pdx1-Cre; LSL-Kras<sup>G12D/+</sup> mice (KC), Pdx1-Cre; LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup> mice (KPC) and human PDAC tissue microarrays, we found that Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4 was significantly elevated in pancreatic intraepithelial neoplasia (PanIN) and PDAC epithelia compared with untransformed pancreas tissues.
|
29050937 |
2017 |
Birth Weight
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
|
31043758 |
2019 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
|
20881960 |
2010 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
|
20881960 |
2010 |
Intellectual Disability
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
|
26663529 |
2016 |
Pancreatic intraepithelial neoplasia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In this study, by screening a GEO dataset containing 36 microdissected PDAC and matching normal pancreatic tissue samples, four differentially expressed K<sup>+</sup> channels (KCNJ5, KCNJ16, KCNN4 and KCNK1) were identified in PDAC. by immunohistochemical analysis of pancreatic tissue sections from Pdx1-Cre; LSL-Kras<sup>G12D/+</sup> mice (KC), Pdx1-Cre; LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup> mice (KPC) and human PDAC tissue microarrays, we found that Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4 was significantly elevated in pancreatic intraepithelial neoplasia (PanIN) and PDAC epithelia compared with untransformed pancreas tissues.
|
29050937 |
2017 |
Prieto X-linked mental retardation syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
We report a three-generation pedigree with a novel ∼1 Mb deletion upstream of SOX9 and including KCNJ2 and KCNJ16, and ascertained for dominant transmission of PRS.
|
26663529 |
2016 |
SeSAME syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome.
|
20651251 |
2010 |
SeSAME syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
In conclusion, disruption of Kcnj16 induces a severe renal phenotype that, apart from hypokalemia, is the opposite of the phenotype seen in SeSAME/EAST syndrome.
|
21633011 |
2011 |