Results 1 to 10 of about 6,362 (144)

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9 [PDF]

Nature Communications, 2019
ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and cardiac
Marie F Smeland, Conor Mcclenaghan, Helen I Roessler   +2 more
exaly   +9 more sources

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.
Anna Kostareva, Kostareva Anna
exaly   +5 more sources

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome [PDF]

Brain
Abstract Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS).
Stephanie Efthymiou, Barbara Vona, Reza Maroofian   +2 more
exaly   +11 more sources

ABCC9 Is Downregulated and Prone to Microsatellite Instability on ABCC9tetra in Canine Breast Cancer [PDF]

Frontiers in Veterinary Science, 2022
Tumorigenesis is associated with metabolic abnormalities and genomic instability. Microsatellite mutations, including microsatellite instability (MSI) and loss of heterozygosity (LOH), are associated with the functional impairment of some tumor-related ...
Pan Hao, Kai-yue Song, Si-qi Wang, Xiao-jun Huang, Da-wei Yao, De-ji Yang   +5 more
doaj   +3 more sources

Inhibition of ABCC9 by zinc oxide nanoparticles induces ferroptosis and inhibits progression, attenuates doxorubicin resistance in breast cancer

Cancer Nanotechnology, 2022
Background Zinc oxide nanoparticles (ZONs) are a type of nanomaterial that has presented anti-cancer properties in breast cancer (BC). However, the function of ABCC9 in BC and its correlation with ZONs are still elusive.
Cui Jiang, Zhe Fan, Jiang Cui
exaly   +2 more sources

Heterogeneity characterization and key pathogenic genes screening based on diabetic nephropathy microenvironment [PDF]

Open Life Sciences
The inflammatory response is a direct factor leading to changes in the microenvironment of renal tissues. The immune cells and stromal cells infiltration were the essential characteristics of diabetic nephropathy (DN). Based on the differentiation of the
Tan Miao, Xue Jingjing, Tan Jinchuan, Ren Meifang, Zhang Qian, Chen Suzhi, Song Ruijing, Nui Yuhan, Zhao Yicong, Li Yongzhang, Yang Fengwen   +10 more
doaj   +2 more sources

ABCC8 and ABCC9: ABC transporters that regulate K+ channels [PDF]

Pflugers Archiv European Journal of Physiology, 2006
The sulfonylurea receptors (SURs) ABCC8/SUR1 and ABCC9/SUR2 are members of the C-branch of the transport adenosine triphosphatase superfamily. Unlike their brethren, the SURs have no identified transport function; instead, evolution has matched these molecules with K(+) selective pores, either K(IR)6.1/KCNJ8 or K(IR)6.2/KCNJ11, to assemble adenosine ...
Joseph Bryan, Alvaro Munoz, Xinna Zhang   +2 more
exaly   +3 more sources

Cantú Syndrome Is Caused by Mutations in ABCC9 [PDF]

American Journal of Human Genetics, 2012
Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9 in all probands.
Bregje W M Van Bon, Christian Gilissen, Dorothy K Grange   +2 more
exaly   +7 more sources

Dominant missense mutations in ABCC9 cause Cantú syndrome

Nature Genetics, 2012
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined.
Magdalena Harakalova, Karen Duran, Ivo Renkens   +2 more
exaly   +9 more sources

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene [PDF]

International Journal of Cardiology, 2014
Genetic defects in KCNJ8, encoding the Kir6.1 subunit of the ATP-sensitive K(+) channel (I(K-ATP)), have previously been associated with early repolarization (ERS) and Brugada (BrS) syndromes. Here we test the hypothesis that genetic variants in ABCC9, encoding the ATP-binding cassette transporter of IK-ATP (SUR2A), are also associated with both BrS ...
Dan Hu, Hector Barajas-Martinez, André Terzić   +2 more
exaly   +5 more sources