Results 161 to 170 of about 6,585 (184)

KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling

Developmental Cell, 2022
Loss- or gain-of-function mutations in ATP-sensitive potassium channel (K-ATP)-encoding genes, KCNJ8 and ABCC9, cause human central nervous system disorders with unknown pathogenesis. Here, using mice, zebrafish, and cell culture models, we investigated cellular and molecular causes of brain dysfunctions derived from altered K-ATP channel function.
Koji Ando, Lei Tong, Di Peng
exaly   +4 more sources

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

European Journal of Medical Genetics, 2020
Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding subunits of heterooctameric ATP-sensitive potassium (KATP) channels.
Kortum F., Niceta M., Magliozzi M., Dumic Kubat K., Robertson S. P., Moresco A., Dentici M. L., Baban A., Leoni C., Onesimo R., Obregon M. G., Digilio M. C., Zampino G., Novelli A., Tartaglia M., Kutsche K.   +15 more
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A novel Val734Ile variant in the ABCC9 gene associated with myocardial infarction

Clinica Chimica Acta, 2006
Alterations in coronary vasomotor tone are deemed to play an important role in myocardial infarction (MI), and the ATP-binding cassette transporter C9-ABCC9-may be involved in the regulation of coronary artery vasomotility. We sought to determine whether genetic variations in the coding sequence of ABCC9 gene could be associated with precocious MI ...
MINORETTI, PIERCARLO, FALCONE, COLOMBA, MORI, FRANCESCA, EMANUELE, ENZO, CALCAGNINO, MARGHERITA, GEROLDI, DIEGO, Aldeghi A, Olivieri V   +7 more
openaire   +2 more sources

ABCC9, NKAPL, and TMEM132C are potential diagnostic and prognostic markers in triple‐negative breast cancer

Cell Biology International, 2020
AbstractTriple‐negative breast cancer (TNBC) is a highly heterogeneous disease. The aim of this study is to identify the diagnostic and poor prognostic signatures in TNBC by exploring the aberrant DNA methylation and gene expression. Differential expression and methylation analysis of the TNBC and paracancer samples from The Cancer Genome Atlas were ...
Xiaoyu Zhang, Xiaoning Kang, Lijun Jin, Jie Bai, Hui Zhang, Wei Liu, Zunyi Wang   +6 more
openaire   +2 more sources

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9

American Journal of Medical Genetics Part A, 2013
AbstractWe present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia.
Czeschik, Johanna Christina, Voigt, Claudia, Goecke, Timm O., Lüdecke, Hermann-Josef, Wagner, Nicholas, Küchler, Alma, Wieczorek, Dagmar   +6 more
openaire   +3 more sources

Abstract 16645: Abcc9 Contributes to Mitochondrial Katp Function and Protection From Cardiomyopathy

Circulation, 2011
In response to intracellular energy supply, ATP-sensitive potassium (KATP) channels alter membrane potential and mediate cell stress response. The Abcc9 gene encodes the major regulatory subunit in the heart, sulfonylurea receptor 2 (SUR2), as well as smaller mitochondria-enriched proteins that contribute to ...
John Fahrenbach, Douglas Stoller, Gene Kim, Nitin Aggarwal, Babatunde Yerokun, Judy Earley, Michele Hadhazy, Nian-Qing Shi, Jonathan Makielski, Elizabeth McNally   +9 more
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Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome

Clinical Laboratory, 2017
Cantú syndrome is characterized by congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia and is recognized as a rare syndrome. Although it has previously been reported that the majority of affected individuals have a relatively good prognosis, there are no reports on long-term follow up.
HyoIn, Kim, SeongWoo, Kim, HaRa, Jeon, JiYong, Kim, JongHa, Yoo, MoonWoo, Seong, SungSup, Park   +6 more
openaire   +2 more sources

Novel variants of ABCC9 in Japanese children with Cantú syndrome

Pediatrics International, 2020
Kazuo Kubota, Takahiro Yamamoto, Satoko Miyatake, Naomichi Matsumoto, Toshiyuki Fukao   +4 more
openaire   +2 more sources

Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9

Pediatrics International, 2020
Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, Takuya Naruto, Kenji Kurosawa   +4 more
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Mixing genome annotation methods in a comparative analysis inflates the apparent number of lineage-specific genes

Current Biology, 2022
Caroline M Weisman, Andrew W Murray, Sean R Eddy   +2 more
exaly