Bhide S - Search Results

1

Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling.

Chandran S, Suggs JA, Wang BJ, Han A, Bhide S, Cryderman DE, Moore SA, Bernstein SI, Wallrath LL, Melkani GC. Chandran S, et al. Among authors: bhide s. Hum Mol Genet. 2019 Feb 1;28(3):351-371. doi: 10.1093/hmg/ddy332. Hum Mol Genet. 2019. PMID: 30239736 Free PMC article.

2

Increasing autophagy and blocking Nrf2 suppress laminopathy-induced age-dependent cardiac dysfunction and shortened lifespan.

Bhide S, Trujillo AS, O'Connor MT, Young GH, Cryderman DE, Chandran S, Nikravesh M, Wallrath LL, Melkani GC. Bhide S, et al. Aging Cell. 2018 Jun;17(3):e12747. doi: 10.1111/acel.12747. Epub 2018 Mar 25. Aging Cell. 2018. PMID: 29575479 Free PMC article.

3

TRiC/CCT chaperonins are essential for maintaining myofibril organization, cardiac physiological rhythm, and lifespan.

Melkani GC, Bhide S, Han A, Vyas J, Livelo C, Bodmer R, Bernstein SI. Melkani GC, et al. Among authors: bhide s. FEBS Lett. 2017 Nov;591(21):3447-3458. doi: 10.1002/1873-3468.12860. Epub 2017 Oct 10. FEBS Lett. 2017. PMID: 28963798 Free PMC article.

4

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. Ng BG, et al. Among authors: bhide s. Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22. Am J Hum Genet. 2012. PMID: 22444671 Free PMC article.

5

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR. Jones MA, et al. Among authors: bhide s. Am J Hum Genet. 2012 Feb 10;90(2):363-8. doi: 10.1016/j.ajhg.2011.12.024. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305527 Free PMC article.

6

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW, Sun JJ, Tanner A, Freeze HH, Hegde MR. Jones MA, et al. Among authors: bhide s. Genet Med. 2011 Nov;13(11):921-32. doi: 10.1097/GIM.0b013e318226fbf2. Genet Med. 2011. PMID: 21811164 Free PMC article.

7

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

Valencia CA, Rhodenizer D, Bhide S, Chin E, Littlejohn MR, Keong LM, Rutkowski A, Bonnemann C, Hegde M. Valencia CA, et al. Among authors: bhide s. J Mol Diagn. 2012 May-Jun;14(3):233-46. doi: 10.1016/j.jmoldx.2012.01.009. Epub 2012 Mar 16. J Mol Diagn. 2012. PMID: 22426012 Free PMC article.

8

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Valencia CA, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M. Valencia CA, et al. Among authors: bhide s. PLoS One. 2013;8(1):e53083. doi: 10.1371/journal.pone.0053083. Epub 2013 Jan 11. PLoS One. 2013. PMID: 23326386 Free PMC article.

9

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.

Ankala A, Kohn JN, Hegde A, Meka A, Ephrem CL, Askree SH, Bhide S, Hegde MR. Ankala A, et al. Among authors: bhide s. Genome Res. 2012 Jan;22(1):25-34. doi: 10.1101/gr.123463.111. Epub 2011 Nov 16. Genome Res. 2012. PMID: 22090376 Free PMC article.

10

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. LaDuca H, et al. Among authors: bhide s. PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017. PLoS One. 2017. PMID: 28152038 Free PMC article.

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