Results 111 to 120 of about 6,585 (184)

Figure 1: Selective Ablation of

, 2019
(A)Abcc9 encodes sulfonylurea receptor 2 (SUR2), the major SUR expressed in the myocardium. Shown is a schematic of Abcc9-produced transcripts encoding SUR2 full-length and SUR2-55KDa forms. Exon 5 is shown in red. (B) Shown is a depiction of full-length
Michele Hadhazy (2697553), James L. Warner (4532200), Katherine S. Fallon (6820826), Ann E. Rossi (790669), Elizabeth M. McNally (530976), Alexis R. Demonbreun (790667), Gregory Aubert (6820820), Jonathan C. Makielski (731968), David Y. Barefield (6820823), Mohun Ramratnam (3390974)   +9 more
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Replication of Genome-Wide association studies (GWAS) loci for sleep in the British G1219 cohort

, 2013
Sleep is a critical behavior shared by most higher animals. Sleep disturbances are comorbid with numerous psychiatric disorders, most notably symptoms of depression.
Eley, Thalia C., Lester, Kathryn, Michael J. Parsons, Thalia C. Eley, Patrick M. Nolan, Nicola L. Barclay, Lester, Kathryn J., Barclay, Nicola L., Gregory, Alice, Kathryn Lester (4462210), Nicola L Barclay (16221641), Parsons, Michael, Thalia C Eley (13615696), Nolan, Patrick M., Kathryn J. Lester, Eley, Thalia, Alice M Gregory (11992776), Nolan, Patrick, Parsons, Michael J., Michael J Parsons (16221638), Gregory, Alice M., Barclay, Nicola, Patrick M Nolan (11641339), Alice M. Gregory   +23 more
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LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry.

, 2023
Limbic-predominant age-related TDP-43 encephalopathy (LATE) affects approximately one-third of older individuals and is associated with cognitive impairment. However, there is a highly incomplete understanding of the genetic determinants of LATE neuropathologic changes (LATE-NC) in diverse populations. The defining neuropathologic feature of LATE-NC is
Katsumata, Yuriko, Fardo, David W, Shade, Lincoln MP, Bowen, James D, Crane, Paul K, Jarvik, Gail P, Keene, C Dirk, Larson, Eric B, McCormick, Wayne C, McCurry, Susan M, Mukherjee, Shubhabrata, Kowall, Neil W, McKee, Ann C, Honig, Robert A, Lawrence, S, Vonsattel, Jean Paul, Williamson, Jennifer, Small, Scott, Burke, James R, Hulette, Christine M, Welsh-Bohmer, Kathleen A, Gearing, Marla, Lah, James J, Levey, Allan I, Wingo, Thomas S, Apostolova, Liana G, Farlow, Martin R, Ghetti, Bernardino, Saykin, Andrew J, Spina, Salvatore, Albert, Marilyn S, Lyketsos, Constantine G, Troncoso, Juan C, Frosch, Matthew P, Green, Robert C, Growdon, John H, Hyman, Bradley T, Tanzi, Rudolph E, Potter, Huntington, Dickson, Dennis W, Ertekin-Taner, Nilufer, Graff-Radford, Neill R, Parisi, Joseph E, Petersen, Ronald C, Duara, Ranjan, Buxbaum, Joseph D, Goate, Alison M, Sano, Mary, Masurkar, Arjun V, Wisniewski, Thomas, Bigio, Eileen H, Mesulam, Marsel, Weintraub, Sandra, Vassar, Robert, Kaye, Jeffrey A, Quinn, Joseph F, Woltjer, Randall L, Barnes, Lisa L, Bennett, David A, Schneider, Julie A, Yu, Lei, Henderson, Victor, Fallon, Kenneth B, Harrell, Lindy E, Marson, Daniel C, Roberson, Erik D, DeCarli, Charles, Jin, Lee-Way, Olichney, John M, Kim, Ronald, LaFerla, Frank M, Monuki, Edwin, Head, Elizabeth, Sultzer, David, Geschwind, Daniel H, Vinters, Harry V, Chesselet, Marie-Francoise, Galasko, Douglas R, Brewer, James B, Boxer, Adam, Karydas, Anna, Kramer, Joel H, Miller, Bruce L, Rosen, Howard J, Seeley, William W, Burns, Jeffrey M, Swerdlow, Russell H, Abner, Erin, Fardo, David W, Van Eldik, Linda J, Albin, Roger L, Lieberman, Andrew P, Paulson, Henry L, Arnold, Steven E, Trojanowski, John Q, Van Deerlin, Vivianna M, Hamilton, Ronald L, Kamboh, M Ilyas, Lopez, Oscar L, Becker, James T   +99 more
openaire   +1 more source

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K_ATP channel gain-of-function by differential mechanisms

, 2017
The complex cardiovascular disorder Cantu Syndrome arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6.1 and SUR2 subunits of ATP-sensitive potassium (KATP) channels.
Helen I. Roessler, Conor McClenaghan, Dragana Josifova, Dorothy K. Grange, Alex Hanson, Colin G. Nichols, Monica Sala-Rabanal, Gijs van Haaften   +7 more
core   +1 more source

Putative risk alleles for LATE-NC with hippocampal sclerosis in population-representative autopsy cohorts.

, 2019
Limbic-predominant age-related TAR-DNA-binding protein-43 (TDP-43) encephalopathy with hippocampal sclerosis pathology (LATE-NC + HS) is a neurodegenerative disorder characterized by severe hippocampal CA1 neuron loss and TDP-43-pathology, leading to ...
Liisa Myllykangas, Graff, C., Hokkanen, S.R.K., Pentti J. Tienari, EClipSE Collaboration, Kero, Mia, Caroline Graff, Karri Kaivola, Matthews, Fiona E., Polvikoski, Tuomo M., Paetau, Anders, Hannah A. D. Keage, Hokkanen, Suvi R.K., Kiviharju, Anna, Paetau, A., Kero, M., Raunio, Anna, Carol Brayne, Suvi R. K. Hokkanen, Anna Raunio, Hokkanen, Suvi R. K., Myllykangas, Liisa, Kiviharju, A., Graff, Caroline, Sally Hunter, Mia Kero, Anna Kiviharju, Myllykangas, L., EClipSE Collaboration,, Tienari, P.J., Matthews, F.E., Keage, Hannah A.D., Kaivola, Karri, Brayne, Carol, Tuomo M. Polvikoski, Polvikoski, T.M., Tienari, Pentti J., Kaivola, K., Fleming, Jane, Raunio, A., Fleming, J., Fiona E. Matthews, Jane Fleming, Hunter, S., Brayne, C., Keage, H.A.D., Anders Paetau, Hunter, Sally, Keage, Hannah A. D.   +48 more
core   +1 more source

Decoding the Cell Atlas and Inflammatory Features of Human Intracranial Aneurysm Wall by Single‐Cell RNA Sequencing

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Intracranial aneurysm (IA) is common and occasionally results in life‐threatening hemorrhagic strokes. However, the cell architecture and inflammation in the IA dome remain less understood.
Hang Ji, Yue Li, Haogeng Sun, Ruiqi Chen, Ran Zhou, Yongbo Yang, Rong Wang, Chao You, Anqi Xiao, Liu Yi   +9 more
doaj   +1 more source

ABCC9 functions in multi-drug resistance in human cancer in metastasis to the liver.

We describe here a function for the ATP-binding cassette gene ABCC9 in multi-drug resistance in human cancer (1-3), supported by evidence by demonstrating its transcriptional up-regulation with significance at the transcriptome level in metastasis to distant organ sites in human breast cancer (4, 5), and by separate evidence demonstrating that ATP ...
openaire   +1 more source

Hippocampal Sclerosis of Aging, a Common Alzheimer's Disease 'Mimic': Risk Genotypes are Associated with Brain Atrophy Outside the Temporal Lobe

, 2016
Hippocampal sclerosis of aging (HS-Aging) is a common brain disease in older adults with a clinical course that is similar to Alzheimer's disease. Four single-nucleotide polymorphisms (SNPs) have previously shown association with HS-Aging.
Nho, Kwangsik, Saykin, Andrew J., Nelson, Peter T.   +2 more
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Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy Syndrome. [PDF]

Neurol Genet
Nagaraj V, Thomas QH, Nóbrega PR, Rodriguez Gil JL, Garavatti E, Scala M, Severino M, Efthymiou S, Amaral S, Ng TC, Inder T, Gao J, Matreyek KA, Castro MAA, Kok F, Sakata MT, Lima PLGSB, Pessoa ALS, Safraou H, Bernstein JA, Nichols CG, van Haaften G, Tran Mau-Them F, Smeland MF, McClenaghan C.   +24 more
europepmc   +1 more source

Interazioni on target ed off target di farmaci e citossici con le subunità TRPV1, ABCC8, ABCC9, KCNJ8, KCNJ11, KCNMA1, KCNMB1-4: implicazioni terapeutiche e reazioni avverse.

The genes TRPV1, ABCC8, ABCC9, KCNJ8, KCNJ11, KCNMA1, KCNMB1-4 encode for macromolecular complexes that perform various functions in cells as subunits of ion channels and they are well known drug targets in pathological conditions.
ANTONACCI, MARINA
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