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636 results

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Page 1
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 …
Cantú Syndrome.
Grange DK, Nichols CG, Singh GK. Grange DK, et al. 2014 Oct 2 [updated 2020 Oct 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Oct 2 [updated 2020 Oct 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 25275207 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of Cantu syndrome is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in ABCC9 or KCNJ8 identified by molecular genetic testing. Some individuals with a clinical diagnosis of Cantu syndrome ha …
DIAGNOSIS/TESTING: The diagnosis of Cantu syndrome is established in a proband with suggestive clinical findings and a heterozygous pathogen …
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. ...MicroRNA transfection experiments yielded results compatible with the hypothesis that miR-30c causes down-regulation of SUR2 transcripts wit …
Rapid amplification of ABCC9 cDNA ends (3'RACE) provided evidence of novel 3' UTR portions of ABCC9 in human brain. ...MicroRN …
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine addit …
Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recentl …
Limbic-predominant age-related TDP-43 encephalopathy (LATE-NC): Co-pathologies and genetic risk factors provide clues about pathogenesis.
Nelson PT, Fardo DW, Wu X, Aung KZ, Cykowski MD, Katsumata Y. Nelson PT, et al. J Neuropathol Exp Neurol. 2024 May 22;83(6):396-415. doi: 10.1093/jnen/nlae032. J Neuropathol Exp Neurol. 2024. PMID: 38613823 Free PMC article. Review.
Genes associated with LATE-NC include TMEM106B, GRN, APOE, SORL1, ABCC9, and others. Although the anatomic distribution of TDP-43 pathology defines the condition, important cofactors for LATE-NC may include Tau pathology, endolysosomal pathways, and blood-brain barrier dys …
Genes associated with LATE-NC include TMEM106B, GRN, APOE, SORL1, ABCC9, and others. Although the anatomic distribution of TDP-43 pat …
KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling.
Ando K, Tong L, Peng D, Vázquez-Liébanas E, Chiyoda H, He L, Liu J, Kawakami K, Mochizuki N, Fukuhara S, Grutzendler J, Betsholtz C. Ando K, et al. Dev Cell. 2022 Jun 6;57(11):1383-1399.e7. doi: 10.1016/j.devcel.2022.04.019. Epub 2022 May 18. Dev Cell. 2022. PMID: 35588738 Free article.
We show that genetic/chemical inhibition or activation of KCNJ8/ABCC9-containing K-ATP channel function leads to brain-selective suppression or promotion of arterial/arteriolar vascular smooth muscle cell (VSMC) differentiation, respectively. ...Our results demonstrate a r …
We show that genetic/chemical inhibition or activation of KCNJ8/ABCC9-containing K-ATP channel function leads to brain-selective supp …
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 this study, we determined the mechanism by whi …
The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6 …
ABCC8 and ABCC9: ABC transporters that regulate K+ channels.
Bryan J, Muñoz A, Zhang X, Düfer M, Drews G, Krippeit-Drews P, Aguilar-Bryan L. Bryan J, et al. Pflugers Arch. 2007 Feb;453(5):703-18. doi: 10.1007/s00424-006-0116-z. Epub 2006 Aug 8. Pflugers Arch. 2007. PMID: 16897043 Review.
The sulfonylurea receptors (SURs) ABCC8/SUR1 and ABCC9/SUR2 are members of the C-branch of the transport adenosine triphosphatase superfamily. ...
The sulfonylurea receptors (SURs) ABCC8/SUR1 and ABCC9/SUR2 are members of the C-branch of the transport adenosine triphosphat …
Functional Validation of Doxorubicin-Induced Cardiotoxicity-Related Genes.
Fonoudi H, Jouni M, Cejas RB, Magdy T, Blancard M, Ge N, Shah DA, Lyra-Leite DM, Neupane A, Gharib M, Jiang Z, Sapkota Y, Burridge PW. Fonoudi H, et al. JACC CardioOncol. 2024 Jan 23;6(1):38-50. doi: 10.1016/j.jaccao.2023.11.008. eCollection 2024 Feb. JACC CardioOncol. 2024. PMID: 38510289 Free PMC article.
Notable genes included efflux transporters (ABCC10, ABCC2, ABCB4, ABCC5, and ABCC9), well-established DIC-associated genes (CBR1, CBR3, and RAC2), and genome-wide association study-discovered genes (RARG and CELF4). ...
Notable genes included efflux transporters (ABCC10, ABCC2, ABCB4, ABCC5, and ABCC9), well-established DIC-associated genes (CBR1, CBR …
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.
Zhang H, Hanson A, de Almeida TS, Emfinger C, McClenaghan C, Harter T, Yan Z, Cooper PE, Brown GS, Arakel EC, Mecham RP, Kovacs A, Halabi CM, Schwappach B, Remedi MS, Nichols CG. Zhang H, et al. JCI Insight. 2021 Mar 8;6(5):e145934. doi: 10.1172/jci.insight.145934. JCI Insight. 2021. PMID: 33529173 Free PMC article.
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by app …
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) …
636 results