Results 21 to 30 of about 6,585 (184)

Association of ATP‐binding cassette transporter genomic alterations and expressions with patient survival in breast and prostate cancer [PDF]

Physiological Reports
ATP‐Binding Cassette (ABC) transporters play a key role in drug resistance and cancer progression. We analyzed the correlation between ABC transporter gene alterations and patient survival in breast and prostate cancers using large‐scale genomic datasets.
Abdulaziz H. Alanazi, Nidhi Shenoy, Payaningal R. Somanath   +2 more
doaj   +2 more sources

Beyond Tachycardia-Induced Cardiomyopathy: ABCC9-Related Dilated Cardiomyopathy and Familial Atrial Fibrillation. [PDF]

JACC Case Rep
Tachycardia-induced cardiomyopathy (TICM) is typically reversible with rhythm control, but individual susceptibility remains poorly understood and may reflect genetic predisposition.A 66-year-old woman with paroxysmal atrial fibrillation (AF) presented with new-onset heart failure.
Kong A, Bernardes T, Rrapo-Kaso E, Ramirez A, Carlan S.   +4 more
europepmc   +3 more sources

Novel human ABCC9/SUR2 brain‐expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging

Journal of Neurochemistry, 2015
AbstractABCC9 genetic polymorphisms are associated with increased risk for various human diseases including hippocampal sclerosis of aging. The main goals of this study were 1 > to detect the ABCC9 variants and define the specific 3′ untranslated region (3′UTR) for each variant in human brain, and 2 > to determine whether a polymorphism (rs704180)
Peter T, Nelson, Wang-Xia, Wang, Bernard R, Wilfred, Angela, Wei, James, Dimayuga, Qingwei, Huang, Eseosa, Ighodaro, Sergey, Artiushin, David W, Fardo   +8 more
openaire   +5 more sources

Genetic association analysis of human median voice pitch identifies a common locus for tonal and non-tonal languages [PDF]

Communications Biology
The genetic influence on human vocal pitch in tonal and non-tonal languages remains largely unknown. In tonal languages, such as Mandarin Chinese, pitch changes differentiate word meanings, whereas in non-tonal languages, such as Icelandic, pitch is used
Yazheng Di, Joel Mefford, Elior Rahmani, Jinhan Wang, Vijay Ravi, Aditya Gorla, Abeer Alwan, Tingshao Zhu, Jonathan Flint   +8 more
doaj   +2 more sources

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
doaj   +1 more source

Lymphedema as first clinical presentation of Cantu Syndrome:reversed phenotyping after identification of gain-of-function variant in ABCC9 [PDF]

, 2023
Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. CS is caused by gain-of-function (GOF) variants in the KCNJ8 or ABCC9 genes that encode pore-forming Kir6.1 and regulatory SUR2 subunits of ATP-sensitive potassium (KATP) channels.
Gao,Jian, McClenaghan,Conor, Christiaans,Imke, Alders,Marielle, van Duinen,Kirsten, van Haelst, Mieke M., van Haaften, Gijs, Nichols,Colin G., Genetica Klinische Genetica, Genetica, Genetica Sectie Research, Cancer, Child Health   +12 more
openaire   +3 more sources

Toward an evolutionary account of the changes in the human pitch vocal system [PDF]

Frontiers in Psychology, 2023
Antonio Benítez-Burraco
doaj   +2 more sources

Functional expression of inwardly rectifying and ATP-sensitive potassium channels in human pulmonary artery smooth muscle and endothelial cells. [PDF]

J Physiol
Abstract figure legend Inwardly rectifying (Kir2) and ATP‐sensitive (KATP) potassium channels are functionally expressed in human pulmonary artery endothelial and smooth muscle cells. The schematic illustrates how Kir2‐ and KATP‐mediated K+ efflux contributes to VM regulation and pulmonary vascular tone.
Barreira B, Morales-Cano D, Moreno L, de Olaiz B, Adão R, Cogolludo A, Perez-Vizcaino F, Sancho M.   +7 more
europepmc   +2 more sources

Mutation Analysis ABCC9 Gene in Japanese Patients with Coronary Spastic Angina [PDF]

Mutation Analysis ABCC9 Gene in Japanese Patients with Coronary Spastic Angina
Coronary artery spasm plays an important role in the etiology of coronary spastic angina（CSA）and other acute coronary syndromes. Mice with a targeted disruption of the ATP-binding cassette transporter C9‒ABCC9 gene were developed as an animal model of CSA. Thus, the ABCC9 may be involved in the regulation of coronary artery vasomotility.
Osanai, Tomohiro, Yamamoto, Yuko, Ohya, Fumie, Sagara, Shigeki, Tomita, Hirofumi, Shibutani, Shuji, Hanada, Kenji, Izumiyama, Kei, Okumura, Ken   +8 more
openaire   +1 more source

Targeting Host Sulphonyl Urea Receptor 2 Can Reduce Severity of Helicobacter pylori Associated Gastritis

Gastro Hep Advances, 2023
Background and Aims: While most Helicobacter pylori-infected individuals remain asymptomatic throughout their lifetime, in a significant proportion, the resulting severe chronic gastritis drives the development of gastric cancer.
Sohinee Sarkar, Ghazal Alipour Talesh, Trevelyan R. Menheniott, Philip Sutton   +3 more
doaj   +1 more source