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Cantu syndrome
Known as:
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
, Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome
National Institutes of Health
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Related topics
Related topics
14 relations
ABCC9, CYS1043TYR
Autosomal dominant inheritance
Bicuspid aortic valve
Gingival Hypertrophy
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Broader (2)
Hypertrichosis
Osteochondrodysplasias
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.
Conor McClenaghan
,
Y. Huang
,
+7 authors
C. Nichols
The Journal of clinical investigation
2019
Corpus ID: 209312688
Cantu Syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2…
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2018
2018
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Yan Huang
,
Conor McClenaghan
,
+10 authors
C. Nichols
JCI insight
2018
Corpus ID: 51941263
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity…
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2016
2016
KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome
M. Levin
,
Gautam K. Singh
,
+8 authors
C. Nichols
Proceedings of the National Academy of Sciences
2016
Corpus ID: 205280366
Significance ATP-sensitive potassium (KATP) channels are present in cardiac and smooth muscle; when activated, they relax blood…
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Review
2013
Review
2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
C. Brownstein
,
M. Towne
,
+9 authors
A. Beggs
European journal of medical genetics
2013
Corpus ID: 27392812
2011
2011
Cantu syndrome and lymphoedema
D. García-Cruz
,
A. Mampel
,
+14 authors
J. Śanchez-Corona
Clinical dysmorphology
2011
Corpus ID: 33524258
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema…
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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.
J. Hoogendam
,
H. Farih-Sips
,
L. C. Wÿnaendts
,
C. Löwik
,
J. Wit
,
M. Karperien
The Journal of clinical endocrinology and…
2007
Corpus ID: 5822642
CONTEXT The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases…
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Review
2006
Review
2006
Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations
D. Grange
,
Steven M Lorch
,
P. L. Cole
,
Gautam K. Singh
American journal of medical genetics. Part A
2006
Corpus ID: 21060533
Cantu syndrome, or hypertrichosis‐osteodysplasia‐cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with…
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Review
2000
Review
2000
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity
R. Oostra
,
J. J. van der Harten
,
W. Rijnders
,
R. Scott
,
M. Young
,
D. Trump
Virchows Archiv
2000
Corpus ID: 20042714
Abstract Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by…
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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.
M. Karperien
,
H. J. van der Harten
,
+6 authors
C. Löwik
The Journal of clinical endocrinology and…
1999
Corpus ID: 24614141
Blomstrand osteochondrodysplasia (BOCD) is a rare lethal skeletal dysplasia characterized by accelerated endochondral and…
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1946
1946
Osteochondrodystrophia deformans (Morquio's disease); observations at autopsy in one case.
N. Einhorn
,
J. R. Moore
,
L. G. Rowntree
American journal of diseases of children
1946
Corpus ID: 7884208
IN 1941, we reported 3 cases of osteochondrodystrophia deformans1(eccentro-osteochondrodysplasia). In 2 of these the disease was…
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