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Cantu syndrome

Known as: HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 
 
National Institutes of Health

Related topics

Related topics

14 relations
ABCC9, CYS1043TYRAutosomal dominant inheritanceBicuspid aortic valveGingival Hypertrophy
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Broader (2)

HypertrichosisOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Glibenclamide reverses cardiovascular abnormalities of Cantu Syndrome driven by KATP channel overactivity.
Cantu Syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2… Expand
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2018
2018
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity… Expand
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2016
2016
KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome
Significance ATP-sensitive potassium (KATP) channels are present in cardiac and smooth muscle; when activated, they relax blood… Expand
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2015
2015
Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.
BACKGROUND Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease… Expand
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2011
2011
Cantu syndrome and lymphoedema
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema… Expand
2007
2007
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.
CONTEXT The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases… Expand
2007
2007
Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia
retinoic acid receptor fusion oncoproteins generate acute promyelocytic leukemia? Cancer Cell 2006; 9: 73–74. 4 Cools J, DeAngelo… Expand
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Highly Cited
1999
Highly Cited
1999
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.
Blomstrand osteochondrodysplasia (BOCD) is a rare lethal skeletal dysplasia characterized by accelerated endochondral and… Expand
1996
1996
Aberrant CD2 expression in precursor‐B acute lymphoblastic leukemia of childhood
Aberrant CD2 expression in childhood precursor‐B ALL is rare and has recently been reported with an incidence of 3.6% in a study… Expand
1946
1946
Osteochondrodystrophia deformans (Morquio's disease); observations at autopsy in one case.
IN 1941, we reported 3 cases of osteochondrodystrophia deformans1(eccentro-osteochondrodysplasia). In 2 of these the disease was… Expand
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