Results 21 to 30 of about 2,004 (84)

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
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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
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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
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Bisphosphonates Targeting Ion Channels and Musculoskeletal Effects

Frontiers in Pharmacology, 2022
Bisphosphonates (BPs) are the most used bone-specific anti-resorptive agents, often chosen as first-line therapy in several bone diseases characterized by an imbalance between osteoblast-mediated bone production and osteoclast-mediated bone resorption ...
Rosa Scala, Fatima Maqoud, Marina Antonacci, Jacopo Raffaele Dibenedetto, Maria Grazia Perrone, Antonio Scilimati, Karen Castillo, Karen Castillo, Ramón Latorre, Diana Conte, Saïd Bendahhou, Domenico Tricarico   +11 more
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A Case Report of Cantu Syndrome Highlighting the Importance of Genetic Sequencing in Addition to Radiological Testing [PDF]

Journal of Clinical and Diagnostic Research
An infant initially suspected to have glutaric aciduria was later diagnosed with Cantu syndrome and found to be a carrier of Congenital Disorder of Glycosylation Type 1j.
Sriranjani Srinivasan, Revathi Nachiappan, Sivakumar Krishnaswamy Vijayaramanujam, Jayakumar Muthaiyan   +3 more
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Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions

Frontiers in Pharmacology, 2023
Background: ATP-sensitive-K+ channels (KATP) are involved in diseases, but their role in cancer is poorly described. Pituitary macroadenoma has been observed in Cantu’ syndrome (C.S.), which is associated with the gain-of-function mutations of the ABCC9 ...
Fatima Maqoud, Fatima Maqoud, Nicola Zizzo, Marcella Attimonelli, Antonella Tinelli, Giuseppe Passantino, Marina Antonacci, Girolamo Ranieri, Domenico Tricarico   +8 more
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Computational Identification of Novel Kir6 Channel Inhibitors

Frontiers in Pharmacology, 2019
KATP channels consist of four Kir6.x pore–forming subunits and four regulatory sulfonylurea receptor (SUR) subunits. These channels couple the metabolic state of the cell to membrane excitability and play a key role in physiological processes such as ...
Xingyu Chen, Arthur Garon, Marcus Wieder, Marien J. C. Houtman, Eva-Maria Zangerl-Plessl, Thierry Langer, Marcel A. G. van der Heyden, Marcel A. G. van der Heyden, Anna Stary-Weinzinger   +8 more
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Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Disease Models & Mechanisms, 2018
The zebrafish (Danio rerio) has become a popular vertebrate model organism to study organ formation and function due to its optical clarity and rapid embryonic development.
Federico Tessadori, Helen I. Roessler, Sanne M. C. Savelberg, Sonja Chocron, Sarah M. Kamel, Karen J. Duran, Mieke M. van Haelst, Gijs van Haaften, Jeroen Bakkers   +8 more
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Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

The Application of Clinical Genetics, 2018
Harry Pachajoa,1,2 William López-Quintero,3 Sara Vanegas,1 Claudia L Montoya,3 Diana Ramírez-Montaño1 1Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi ...
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D   +4 more
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