Results 1 to 10 of about 1,142,948 (99)

Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function

Function, 2023
Cantú Syndrome (CS) is an autosomal dominant disorder caused by gain-of-function (GoF) mutations in the Kir6.1 and SUR2 subunits of KATP channels.
Michael J Davis, Jorge A Castorena-Gonzalez, Hae Jin Kim, Min Li, Maria Remedi, Colin G Nichols   +5 more
doaj   +2 more sources

Cantu syndrome induced by gene mutation: a case report [PDF]

Xin yixue, 2022
Cantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel, involving multiple systems, mainly manifested as hyperhairy body, skeletal muscle abnormalities and heart disease, etc. In this
Xu Dong, Huang Yongjian
doaj   +1 more source

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

BMC Pediatrics, 2023
Background Cantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities.
Falastine Daas, Punita Gupta, Fuad Kiblawi   +2 more
doaj   +1 more source

A new mutation for Cantu's syndrome

Journal of Education, Health and Sport, 2022
Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for Cantu syndrome, but given the characteristic appearance and reproducible features in people with a mutation in the ABCC9 gene, there is a ...
Julia Bargieł, Justyna Cabaj, Agata Tarkowska   +2 more
doaj   +1 more source

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Clinical Case Reports, 2023
Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7‐year‐old girl with congenital
Alessandra Mattiucci, Giampiero Girolomoni, Matteo Cassina, Thomas Zoller, Franco Antoniazzi, Donatella Schena   +5 more
doaj   +1 more source

Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation

Frontiers in Genetics, 2022
Genetic variants in the ABCC9 gene, encoding the SUR2 auxiliary subunit from KATP channels, were previously linked with various inherited diseases. This wide range of congenital disorders includes multisystem and cardiovascular pathologies.
Anastasia Zaytseva, Anastasia Zaytseva, Tatyana Tulintseva, Yulya Fomicheva, Valeria Mikhailova, Tatiana Treshkur, Anna Kostareva, Anna Kostareva   +7 more
doaj   +1 more source

Cantu syndrome complicated with 22q11.2 duplication syndrome:a case report [PDF]

Jichu yixue yu linchuang
Objective To investigate the clinical manifestations of Cantu syndrome complicated with 22q11.2 duplication syndrome and to raise awareness regarding the diagnosis of the co-occurrence of both genetic diseases.
SONG Yueyang, SHI Yajun, YU Xi, WEN Yingshi, SUN Miao
doaj   +1 more source

Development of IKATP Ion Channel Blockers Targeting Sulfonylurea Resistant Mutant KIR6.2 Based Channels for Treating DEND Syndrome

Frontiers in Pharmacology, 2022
Introduction: DEND syndrome is a rare channelopathy characterized by a combination of developmental delay, epilepsy and severe neonatal diabetes. Gain of function mutations in the KCNJ11 gene, encoding the KIR6.2 subunit of the IKATP potassium channel ...
Marien J. C. Houtman, Theres Friesacher, Xingyu Chen, Eva-Maria Zangerl-Plessl, Marcel A. G. van der Heyden, Anna Stary-Weinzinger   +5 more
doaj   +1 more source

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome

Cells, 2021
(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K+ (KATP) channel subunits SUR2 and Kir6.1, respectively.
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Giuseppe Passantino, Antonietta Mele, Giulia Maria Camerino, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico   +9 more
doaj   +1 more source

Cantu syndrome in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2018
We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, long ...
Rabah M. Shawky, Radwa Gamal
doaj   +1 more source