Kane MS - Search Results

1

Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.

Barrowman J, Hamblet C, Kane MS, Michaelis S. Barrowman J, et al. Among authors: kane ms. PLoS One. 2012;7(2):e32120. doi: 10.1371/journal.pone.0032120. Epub 2012 Feb 15. PLoS One. 2012. PMID: 22355414 Free PMC article.

2

LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.

Kane MS, Lindsay ME, Judge DP, Barrowman J, Ap Rhys C, Simonson L, Dietz HC, Michaelis S. Kane MS, et al. Am J Med Genet A. 2013 Jul;161A(7):1599-611. doi: 10.1002/ajmg.a.35971. Epub 2013 May 10. Am J Med Genet A. 2013. PMID: 23666920 Free PMC article.

3

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD. Kane MS, et al. Brain. 2016 Sep;139(Pt 9):e52. doi: 10.1093/brain/aww135. Epub 2016 Jun 24. Brain. 2016. PMID: 27343256 Free PMC article. No abstract available.

4

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.

Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D. Kane MS, et al. Neuropediatrics. 2019 Aug;50(4):257-261. doi: 10.1055/s-0039-1692129. Epub 2019 Jun 21. Neuropediatrics. 2019. PMID: 31226715

5

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants.

Kane MS, Diamonstein CJ, Hauser N, Deeken JF, Niederhuber JE, Vilboux T. Kane MS, et al. Genes Dis. 2019 Jan 7;6(1):56-67. doi: 10.1016/j.gendis.2018.12.004. eCollection 2019 Mar. Genes Dis. 2019. PMID: 30906834 Free PMC article.

6

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD. Pavey AR, et al. Among authors: kane ms. Genet Med. 2017 Dec;19(12):1367-1375. doi: 10.1038/gim.2017.57. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617419 Free article.

7

Acute increase of protein O-GlcNAcylation in mice leads to transcriptome changes in the brain opposite to what is observed in Alzheimer's Disease.

Bell M, Kane MS, Ouyang X, Young ME, Jegga AG, Chatham JC, Darley-Usmar V, Zhang J. Bell M, et al. Among authors: kane ms. bioRxiv [Preprint]. 2024 Sep 20:2024.09.19.613769. doi: 10.1101/2024.09.19.613769. bioRxiv. 2024. PMID: 39345543 Free PMC article. Preprint.

8

Gene expression and ultra-structural evidence for metabolic derangement in the primary mitral regurgitation heart.

Kane MS, Juncos JXM, Manzoor S, Grenett M, Oh JY, Pat B, Ahmed MI, Lewis C, Davies JE, Denney TS, McConathy J, Dell'Italia LJ. Kane MS, et al. Eur Heart J Open. 2024 May 1;4(3):oeae034. doi: 10.1093/ehjopen/oeae034. eCollection 2024 May. Eur Heart J Open. 2024. PMID: 38854954 Free PMC article.

9

The interplay between sex, time of day, fasting status, and their impact on cardiac mitochondrial structure, function, and dynamics.

Kane MS, Benavides GA, Osuma E, Johnson MS, Collins HE, He Y, Westbrook D, Litovsky SH, Mitra K, Chatham JC, Darley-Usmar V, Young ME, Zhang J. Kane MS, et al. Sci Rep. 2023 Dec 7;13(1):21638. doi: 10.1038/s41598-023-49018-z. Sci Rep. 2023. PMID: 38062139 Free PMC article.

10

Elevated cardiac hemoglobin expression is associated with a pro-oxidative and inflammatory environment in primary mitral regurgitation.

Manzoor S, Kane MS, Grenett M, Oh JY, Pat B, Lewis C, Davies JE, Steele C, Patel RP, Dell'Italia LJ. Manzoor S, et al. Among authors: kane ms. Free Radic Biol Med. 2023 Nov 1;208:126-133. doi: 10.1016/j.freeradbiomed.2023.08.007. Epub 2023 Aug 3. Free Radic Biol Med. 2023. PMID: 37543167

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