Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 323

1.

Glibenclamide reverses cardiovascular abnormalities of Cantu Syndrome driven by KATP channel overactivity.

McClenaghan C, Huang Y, Yan Z, Harter T, Halabi CM, Chalk R, Kovacs A, van Haaften G, Remedi MS, Nichols CG.

J Clin Invest. 2019 Dec 10. pii: 130571. doi: 10.1172/JCI130571. [Epub ahead of print]

2.

Cantu syndrome and hypopituitarism: implications for endocrine monitoring.

Theis NJ, Calvert T, McIntyre P, Robertson SP, Wheeler BJ.

Endocrinol Diabetes Metab Case Rep. 2019 Nov 12;2019. pii: EDM190103. doi: 10.1530/EDM-19-0103. [Epub ahead of print]

3.

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP 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.

Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7.

4.

Differential expression of genes participating in cardiomyocyte electrophysiological remodeling via membrane ionic mechanisms and Ca2+-handling in human heart failure.

Kepenek ES, Ozcinar E, Tuncay E, Akcali KC, Akar AR, Turan B.

Mol Cell Biochem. 2019 Sep 13. doi: 10.1007/s11010-019-03626-4. [Epub ahead of print]

PMID:
31520233
5.

You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery.

Kurian C, Pinamonti G, Starling Hughes S, Martin J, Lypka M.

Cleft Palate Craniofac J. 2019 Aug 11:1055665619868043. doi: 10.1177/1055665619868043. [Epub ahead of print]

PMID:
31401848
6.

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

Hokkanen SRK, Kero M, Kaivola K, Hunter S, Keage HAD, Kiviharju A, Raunio A, Tienari PJ, Paetau A, Matthews FE, Fleming J, Graff C, Polvikoski TM, Myllykangas L, Brayne C; EClipSE Collaboration.

Brain Pathol. 2019 Aug 3. doi: 10.1111/bpa.12773. [Epub ahead of print]

PMID:
31376286
7.

Functional annotation and Bayesian fine-mapping reveals candidate genes for important agronomic traits in Holstein bulls.

Jiang J, Cole JB, Freebern E, Da Y, VanRaden PM, Ma L.

Commun Biol. 2019 Jun 18;2:212. doi: 10.1038/s42003-019-0454-y. eCollection 2019.

8.

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG.

Am J Med Genet A. 2019 Aug;179(8):1585-1590. doi: 10.1002/ajmg.a.61200. Epub 2019 Jun 7.

PMID:
31175705
9.

A Large-Scale Genome-Wide Association Study in U.S. Holstein Cattle.

Jiang J, Ma L, Prakapenka D, VanRaden PM, Cole JB, Da Y.

Front Genet. 2019 May 14;10:412. doi: 10.3389/fgene.2019.00412. eCollection 2019.

10.

Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents.

Houtman MJC, Chen X, Qile M, Duran K, van Haaften G, Stary-Weinzinger A, van der Heyden MAG.

J Cell Mol Med. 2019 Aug;23(8):4962-4969. doi: 10.1111/jcmm.14329. Epub 2019 May 22.

11.

Deletion of Sulfonylurea Receptor 2 in the Adult Myocardium Enhances Cardiac Glucose Uptake and Is Cardioprotective.

Aubert G, Barefield DY, Demonbreun AR, Ramratnam M, Fallon KS, Warner JL, Rossi AE, Hadhazy M, Makielski JC, McNally EM.

JACC Basic Transl Sci. 2019 Apr 29;4(2):251-268. doi: 10.1016/j.jacbts.2018.11.012. eCollection 2019 Apr.

12.

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.

Brain. 2019 Jun 1;142(6):1503-1527. doi: 10.1093/brain/awz099. Erratum in: Brain. 2019 Jul 1;142(7):e37.

13.

ABC Transporters in Neurological Disorders: An Important Gateway for Botanical Compounds Mediated Neuro-Therapeutics.

Jha NK, Kar R, Niranjan R.

Curr Top Med Chem. 2019;19(10):795-811. doi: 10.2174/1568026619666190412121811. Review.

PMID:
30977450
14.

Functional characterization of ABCC9 variants identified in sudden unexpected natural death.

Subbotina E, Yang HQ, Gando I, Williams N, Sampson BA, Tang Y, Coetzee WA.

Forensic Sci Int. 2019 May;298:80-87. doi: 10.1016/j.forsciint.2019.02.035. Epub 2019 Feb 27.

PMID:
30878466
15.

Targeted sequencing with a customized panel to assess histological typing in endometrial carcinoma.

Cuevas D, Valls J, Gatius S, Roman-Canal B, Estaran E, Dorca E, Santacana M, Vaquero M, Eritja N, Velasco A, Matias-Guiu X.

Virchows Arch. 2019 May;474(5):585-598. doi: 10.1007/s00428-018-02516-2. Epub 2019 Feb 1.

PMID:
30710169
16.

TDP-43 proteinopathy in aging: Associations with risk-associated gene variants and with brain parenchymal thyroid hormone levels.

Nelson PT, Gal Z, Wang WX, Niedowicz DM, Artiushin SC, Wycoff S, Wei A, Jicha GA, Fardo DW.

Neurobiol Dis. 2019 May;125:67-76. doi: 10.1016/j.nbd.2019.01.013. Epub 2019 Jan 23.

PMID:
30682540
17.

The impact of cigarette smoke exposure, COPD, or asthma status on ABC transporter gene expression in human airway epithelial cells.

Aguiar JA, Tamminga A, Lobb B, Huff RD, Nguyen JP, Kim Y, Dvorkin-Gheva A, Stampfli MR, Doxey AC, Hirota JA.

Sci Rep. 2019 Jan 17;9(1):153. doi: 10.1038/s41598-018-36248-9.

18.

Peri-arterial specification of vascular mural cells from naïve mesenchyme requires Notch signaling.

Ando K, Wang W, Peng D, Chiba A, Lagendijk AK, Barske L, Crump JG, Stainier DYR, Lendahl U, Koltowska K, Hogan BM, Fukuhara S, Mochizuki N, Betsholtz C.

Development. 2019 Jan 25;146(2). pii: dev165589. doi: 10.1242/dev.165589.

19.

A genome wide association study for the number of animals born dead in domestic pigs.

Wu P, Wang K, Zhou J, Yang Q, Yang X, Jiang A, Jiang Y, Li M, Zhu L, Bai L, Li X, Tang G.

BMC Genet. 2019 Jan 7;20(1):4. doi: 10.1186/s12863-018-0692-x.

20.

SUR2B/Kir6.1 channel openers correct endothelial dysfunction in chronic heart failure via the miR-1-3p/ET-1 pathway.

Wang S, Guo X, Long CL, Li C, Zhang YF, Wang J, Wang H.

Biomed Pharmacother. 2019 Feb;110:431-439. doi: 10.1016/j.biopha.2018.11.135. Epub 2018 Dec 5.

Supplemental Content

Loading ...
Support Center