Cantú syndrome - Open Access .click

Results 51 to 60 of about 1,142,948 (99)

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source

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 +4 more
doaj

Imaging Diagnosis—Intestinal Leiomyositis in a 3‐Year‐Old Labrador Retriever

Veterinary Radiology &Ultrasound, Volume 66, Issue 6, November 2025.
ABSTRACT A 3‐year‐old male neutered Labrador Retriever was originally presented to his primary care veterinarian for a 3–4‐week history of hyporexia, a 1‐week history of anorexia, and vomiting. There was moderate gastrointestinal (GI) distention with heterogeneous soft tissue luminal material within the small intestine in screening abdominal ...
Mercedes Cantu, Eric T. Hostnik, Rebecca Urion +2 more
wiley +1 more source

[Chachalaca Review] - Meet Norma E. Cantú | Fall 2019 Special Feature

, 2019
Born in Nuevo Laredo, Tamaulipas and raised in Laredo, Texas, Norma Cantú received her bachelor’s and master’s degrees from Texas A&I at Laredo and Kingsville and her Ph.D. from the University of Nebraska, Lincoln.
Cantú, Norma E., Chachalaca Review, Rodriguez, Omar +2 more
core +1 more source

Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations

Function
Cantú syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by gain-of-function (GoF) variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (KATP) channels and is characterized by low systemic vascular ...
Alex Hanson +8 more
doaj +1 more source

Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility

Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus ...
Karlsson, Ulf +4 more
core +1 more source

Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome

Frontiers in Medicine
IntroductionCantú syndrome (CS) is a rare genetic disorder caused by gain-of-function (GOF) mutations in the KCNJ8 (Kir6.1) or ABCC9 (SUR2) subunits of ATP-sensitive potassium (KATP) channels.
Fatima Maqoud +10 more
doaj +1 more source

A Multi-Modal Few-Shot Learning Approach for Diagnosing Cantú Syndrome

Cantú syndrome is a rare genetic disorder caused by mutations in two distinctive genes that code for the regulatory or pore-forming subunits of KATP channels in the heart.
Abhirama Vadiraja Sonny
core +1 more source

Semblanza: Dr. Miguel García Cantú

, 2015
Dr. Miguel García Cantú
Sepúlveda Infante, Rogelio
core +1 more source

Abstracts From AIDS 2026, the 26th International AIDS Conference, 26 – 31 July 2026 Rio de Janeiro, Brazil & virtual

Journal of the International AIDS Society, Volume 29, Issue S4, July 2026.
wiley +1 more source

abcc9
glibenclamide
hypertrichosis

rare disease
sur2
kir6.1

skeletal muscle
atp-sensitive potassium channel
kcnj8