Results 31 to 40 of about 6,585 (184)

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology [PDF]

Acta Neuropathologica, 2014
Hippocampal sclerosis of aging (HS-Aging) is a high-morbidity brain disease in the elderly but risk factors are largely unknown. We report the first genome-wide association study (GWAS) with HS-Aging pathology as an endophenotype. In collaboration with the Alzheimer's Disease Genetics Consortium, data were analyzed from large autopsy cohorts: (#1 ...
Nelson, Peter T, Estus, Steven, Abner, Erin L, Parikh, Ishita, Malik, Manasi, Neltner, Janna H, Ighodaro, Eseosa, Wang, Wang-Xia, Wilfred, Bernard R, Wang, Li-San, Kukull, Walter A, Nandakumar, Kannabiran, Farman, Mark L, Poon, Wayne W, Corrada, Maria M, Kawas, Claudia H, Cribbs, David H, Bennett, David A, Schneider, Julie A, Larson, Eric B, Crane, Paul K, Valladares, Otto, Schmitt, Frederick A, Kryscio, Richard J, Jicha, Gregory A, Smith, Charles D, Scheff, Stephen W, Sonnen, Joshua A, Haines, Jonathan L, Pericak-Vance, Margaret A, Mayeux, Richard, Farrer, Lindsay A, Van Eldik, Linda J, Horbinski, Craig, Green, Robert C, Gearing, Marla, Poon, Leonard W, Kramer, Patricia L, Woltjer, Randall L, Montine, Thomas J, Partch, Amanda B, Rajic, Alexander J, Richmire, KatieRose, Monsell, Sarah E, Alzheimer’ Disease Genetic Consortium, Schellenberg, Gerard D, Fardo, David W   +46 more
openaire   +5 more sources

Transcriptomic analysis reveals key genes and pathways corresponding to Cd and Pb in the hyperaccumulator Arabis paniculata

Ecotoxicology and Environmental Safety, 2023
Soil and water are increasingly at risk of contamination from the toxic heavy metals lead (Pb) and cadmium (Cd). Arabis paniculata (Brassicaceae) is a hyperaccumulator of heavy metals (HMs) found widely distributed in areas impacts by mining activities ...
Zhaochao Liu, Lizhou Zhou, Chenchen Gan, Lijuan Hu, Biao Pang, Dan Zuo, Guangyi Wang, Hongcheng Wang, Yingliang Liu   +8 more
doaj   +1 more source

Cantu syndrome induced by gene mutation: a case report [PDF]

Xin yixue, 2022
Cantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel, involving multiple systems, mainly manifested as hyperhairy body, skeletal muscle abnormalities and heart disease, etc. In this
Xu Dong, Huang Yongjian
doaj   +1 more source

Cantù Syndrome: A Case Report With Orthodontic and Sleep Disorder Findings [PDF]

Clin Case Rep
ABSTRACT This case emphasizes the importance of comprehensive orthodontic and sleep evaluations in Cantù syndrome. Despite severe dento‐skeletal malocclusions, the patient exhibited low risk of obstructive sleep apnea (PSQ score < 0.33), emphasizing that craniofacial anomalies do not uniformly predict respiratory compromise.
Guglielmi F, Alessandri Bonetti A, Nuzzo B, Gallenzi P.   +3 more
europepmc   +2 more sources

Functional characterization of ABCC9 variants identified in sudden unexpected natural death [PDF]

Forensic Science International, 2019
Genetic variation in ion channel genes ('channelopathies') are often associated with inherited arrhythmias and sudden death. Genetic testing ('molecular autopsies') of channelopathy genes can be used to assist in determining the likely causes of sudden unexpected death.
Ekaterina Subbotina, Hua-Qian Yang, Ivan Gando, Nori Williams, Barbara A. Sampson, Yingying Tang, William A. Coetzee   +6 more
openaire   +2 more sources

A rare case of familial restrictive cardiomyopathy with mutations in MYH7 and ABCC9 genes [PDF]

Discoveries, 2019
Restrictive cardiomyopathy is the least common type of cardiomyopathy, being defined by diastolic dysfunction and often unimpaired systolic function. Restrictive cardiomyopathies can be classified as familial or non-familial. Patients with familial restrictive cardiomyopathy can develop signs and symptoms of this condition anytime from childhood to ...
Neagoe, Oana, Ciobanu, Anda, Diaconu, Rodica, Mirea, Oana, Donoiu, Ionuț, Militaru, Constantin   +5 more
openaire   +2 more sources

Table1_Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation.DOCX

, 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 (12410089), Anna Kostareva (735308), Yulya Fomicheva (12410095), Valeria Mikhailova (12410098), Tatyana Tulintseva (12410092), Tatiana Treshkur (12410101)   +5 more
core   +1 more source

Variability in arteriolosclerosis in different brain regions: An AI‐based population study of the Oldest‐Old (Vantaa85+) [PDF]

Alzheimers Dement
Abstract Background Brain arteriolosclerosis, characterized by the thickening of arteriolar walls, is frequently observed in autopsy studies of the oldest‐old and associated with cognitive decline. We aimed to develop an AI–based algorithm for quantifying arteriolar wall thickness, and to investigate potential associations between arteriolosclerosis ...
Colangelo K, Mäyränpää M, Tuimala J, Kivistö V, Kok E, Tynninen O, Puttonen H, Polvikoski T, Myllykangas L.   +8 more
europepmc   +2 more sources

Novel cholesterol‐dependent regulation of cardiac KATP subunit expression revealed using histone deacetylase inhibitors

Physiological Reports, 2021
We recently discovered that the histone deacetylase inhibitor, trichostatin A (TSA), increases expression of the sulfonylurea receptor 2 (SUR2; Abcc9) subunit of the ATP‐sensitive K+ (KATP) channel in HL‐1 cardiomyocytes.
Robert Geiger, Naheed Fatima, James F. Schooley Jr., Jeremy T. Smyth, Mark C. Haigney, Thomas P. Flagg   +5 more
doaj   +1 more source

GENETIC ASSOCIATION OF THE ABCC9 GENE WITH HIPPOCAMPAL SCLEROSIS OF AGING NEUROPATHOLOGY [PDF]

Innovation in Aging, 2017
AbstractHippocampal sclerosis of aging (HS-Aging) is a common neurodegenerative condition associated with dementia. To learn more about genetic risk of HS-Aging pathology, we tested gene-based associations of the ABCC9 gene, which was reported to be associated with HS-Aging pathology in previous studies.
Y. Katsumata, P.T. Nelson, S.R. Ellingson, D.W. Fardo   +3 more
openaire   +1 more source