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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
K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome.
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory… 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
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2011
2011
Copy Number Variations on Chromosome 4q26–27 Are Associated with Cantu Syndrome
Background: Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone… Expand
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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
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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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1999
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
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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
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