|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cantu Syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2 and Kir6.1 subunits, respectively, of vascular smooth muscle (VSM) KATP channels.
|
31821173 |
2020 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (K<sub>ATP</sub> ) channels, respectively.
|
31828977 |
2019 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
|
31175705 |
2019 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K<sub>ATP</sub> channel gain-of-function by differential mechanisms.
|
29275331 |
2018 |
|
Cantu syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Three of these lines carry gain-of-function mutations in genes encoding the pore-forming (Kir6.1, <i>KCNJ8</i>) and regulatory (SUR2, <i>ABCC9</i>) subunits of an ATP-sensitive potassium channel (K<sub>ATP</sub>) linked to Cantú syndrome (CS).
|
30355756 |
2018 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To investigate pathophysiologic mechanisms in CS we have used CRISPR/Cas9 engineering to introduce CS-associated SUR2[A478V] and Kir6.1[V65M] mutations to the equivalent endogenous loci in mice.
|
30089727 |
2018 |
|
Cantu syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
|
28842488 |
2017 |
|
Cantu syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The patient reported here gives further evidence that these syndromes are an expression of the ABCC9-related disorders, ranging from hypertrichosis and acromegaloid facies to the severe end of Cantu syndrome.
|
26871653 |
2017 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) KATP channel subunits.
|
27247394 |
2016 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease characterized by multiple cardiovascular abnormalities.
|
26142302 |
2015 |
|
Cantu syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
|
26621776 |
2015 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
|
26621776 |
2015 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
|
26621776 |
2015 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We screened KCNJ8 in an ABCC9 mutation-negative patient who also exhibited clinical hallmarks of CS (hypertrichosis, macrosomia, macrocephaly, coarse facial appearance, cardiomegaly, and skeletal abnormalities).
|
24700710 |
2014 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A careful screening of the KATP genes should be performed in all individuals diagnosed with Cantú syndrome and no mutation in ABCC9.
|
24176758 |
2013 |
|
Cantu syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
|
23307537 |
2013 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we propose that ABCC9 mutations lead to a spectrum of phenotypes formerly known as Cantú syndrome, HAFF and AFA, which may not be clearly distinguishable by clinical criteria, and that all patients with clinical signs belonging to this spectrum should be revisited and offered ABCC9 mutation analysis.
|
23307537 |
2013 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cantú syndrome is caused by mutations in ABCC9.
|
22608503 |
2012 |
|
Cantu syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
|
Cantu syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
|
Cantu syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
|
Cantu syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Cantú syndrome is caused by mutations in ABCC9.
|
22608503 |
2012 |
|
Cantu syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
|
Cantu syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |