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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 3
1995 1
1996 4
1997 6
1998 13
1999 21
2000 21
2001 16
2002 26
2003 26
2004 32
2005 33
2006 28
2007 22
2008 24
2009 27
2010 30
2011 29
2012 21
2013 25
2014 25
2015 27
2016 29
2017 24
2018 24
2019 30
2020 25
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526 results
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ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.
Nelson PT, Jicha GA, Wang WX, Ighodaro E, Artiushin S, Nichols CG, Fardo DW. Nelson PT, et al. Ageing Res Rev. 2015 Nov;24(Pt B):111-25. doi: 10.1016/j.arr.2015.07.007. Epub 2015 Jul 28. Ageing Res Rev. 2015. PMID: 26226329 Free PMC article. Review.
The ABCC9 gene and its polypeptide product, SUR2, are increasingly implicated in human neurologic disease, including prevalent diseases of the aged brain. ...We conclude that more work is required to better understand the roles of ABCC9/SUR2 in the hum …
The ABCC9 gene and its polypeptide product, SUR2, are increasingly implicated in human neurologic disease, including prevalent …
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K(ATP) channel gain-of-function by differential mechanisms.
McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK, van Haaften G, Nichols CG. McClenaghan C, et al. J Biol Chem. 2018 Feb 9;293(6):2041-2052. doi: 10.1074/jbc.RA117.000351. Epub 2017 Dec 22. J Biol Chem. 2018. PMID: 29275331 Free PMC article.
The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6.1 and SUR2 subunits of ATP-sensitive potassium (K(ATP)) channels, respectively. ...In summary, these results provide additional conf …
The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6 …
Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging.
Nelson PT, Wang WX, Wilfred BR, Wei A, Dimayuga J, Huang Q, Ighodaro E, Artiushin S, Fardo DW. Nelson PT, et al. J Neurochem. 2015 Sep;134(6):1026-39. doi: 10.1111/jnc.13202. Epub 2015 Jul 15. J Neurochem. 2015. PMID: 26115089 Free PMC article.
Rapid amplification of ABCC9 cDNA ends (3'RACE) provided evidence of novel 3' UTR portions of ABCC9 in human brain. In silico and experimental studies were performed focusing on the single nucleotide polymorphism, rs704180. ...MicroRNA transfection experiments yield …
Rapid amplification of ABCC9 cDNA ends (3'RACE) provided evidence of novel 3' UTR portions of ABCC9 in human brain. In silico …
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report.
Nelson PT, Dickson DW, Trojanowski JQ, Jack CR, Boyle PA, Arfanakis K, Rademakers R, Alafuzoff I, Attems J, Brayne C, Coyle-Gilchrist ITS, Chui HC, Fardo DW, Flanagan ME, Halliday G, Hokkanen SRK, Hunter S, Jicha GA, Katsumata Y, Kawas CH, Keene CD, Kovacs GG, Kukull WA, Levey AI, Makkinejad N, Montine TJ, Murayama S, Murray ME, Nag S, Rissman RA, Seeley WW, Sperling RA, White Iii CL, Yu L, Schneider JA. Nelson PT, et al. Brain. 2019 Jun 1;142(6):1503-1527. doi: 10.1093/brain/awz099. Brain. 2019. PMID: 31039256 Free PMC article.
Genetic studies have thus far indicated five genes with risk alleles for LATE-NC: GRN, TMEM106B, ABCC9, KCNMB2, and APOE. The discovery of these genetic risk variants indicate that LATE shares pathogenetic mechanisms with both frontotemporal lobar degeneration and Alzheime …
Genetic studies have thus far indicated five genes with risk alleles for LATE-NC: GRN, TMEM106B, ABCC9, KCNMB2, and APOE. The discove …
ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GÅM, Hjellnes H, Arntzen KA, Müller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G. Smeland MF, et al. Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7. Nat Commun. 2019. PMID: 31575858 Free PMC article.
Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2) subunit of K(ATP) channels. ...We term this channelopathy resulting from loss-of-function of SUR2-containing K(ATP) channels …
Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Huang Y, McClenaghan C, Harter TM, Hinman K, Halabi CM, Matkovich SJ, Zhang H, Brown GS, Mecham RP, England SK, Kovacs A, Remedi MS, Nichols CG. Huang Y, et al. JCI Insight. 2018 Aug 9;3(15):e121153. doi: 10.1172/jci.insight.121153. eCollection 2018 Aug 9. JCI Insight. 2018. PMID: 30089727 Free PMC article.
The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits. ...Notably, expression of Kir6.1 and SUR2 does not fully overlap, and the re …
The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABC
Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.
Tessadori F, Roessler HI, Savelberg SMC, Chocron S, Kamel SM, Duran KJ, van Haelst MM, van Haaften G, Bakkers J. Tessadori F, et al. Dis Model Mech. 2018 Oct 18;11(10):dmm035469. doi: 10.1242/dmm.035469. Dis Model Mech. 2018. PMID: 30355756 Free PMC article.
Three of these lines carry gain-of-function mutations in genes encoding the pore-forming (Kir6.1, KCNJ8) and regulatory (SUR2, ABCC9) subunits of an ATP-sensitive potassium channel (K(ATP)) linked to Cantú syndrome (CS). ...
Three of these lines carry gain-of-function mutations in genes encoding the pore-forming (Kir6.1, KCNJ8) and regulatory (SUR2, ABC
Promoter DNA methylation regulates murine SUR1 (Abcc8) and SUR2 (Abcc9) expression in HL-1 cardiomyocytes.
Fatima N, Schooley JF Jr, Claycomb WC, Flagg TP. Fatima N, et al. PLoS One. 2012;7(7):e41533. doi: 10.1371/journal.pone.0041533. Epub 2012 Jul 23. PLoS One. 2012. PMID: 22844491 Free PMC article.
Two mammalian genes encode the SURx (SUR1, Abcc8 and SUR2, Abcc9) subunits that combine with Kir6.2 (Kcnj11) subunits to form the ATP-sensitive potassium (KATP) channel in cardiac myocytes. ...In the present study, we explore the role of CpG methylation in regulatin …
Two mammalian genes encode the SURx (SUR1, Abcc8 and SUR2, Abcc9) subunits that combine with Kir6.2 (Kcnj11) subunits to form …
Brugada Syndrome.
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada P, Brugada J, Hong K. Brugada R, et al. 2005 Mar 31 [updated 2016 Nov 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301690 Free Books & Documents. Review.
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and/or by the identification of a heterozygous (or hemizygous in the case of KCNE5 in a male) pathogenic variant in one of 23 genes: ABCC9, CACNA1C, CACNA2D1, CACNB2, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE5, KCNE3, …
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and/or by the identification of a heterozygous (or hemizygous in the case of KCNE …
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
Cooper PE, Sala-Rabanal M, Lee SJ, Nichols CG. Cooper PE, et al. J Gen Physiol. 2015 Dec;146(6):527-40. doi: 10.1085/jgp.201511495. J Gen Physiol. 2015. PMID: 26621776 Free PMC article.
Recent genetic analysis has revealed that the majority of CS patients carry a missense mutation in ABCC9, which codes for the sulfonylurea receptor SUR2. ...Here, we have focused on determining the functional consequences of three documented human CS-associated A
Recent genetic analysis has revealed that the majority of CS patients carry a missense mutation in ABCC9, which codes for the sulfony …
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