Dinger M - Search Results

1

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. Among authors: dinger m. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.

2

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Palmer EE, Hayner J, Sachdev R, Cardamone M, Kandula T, Morris P, Dias KR, Tao J, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley MJ, Buckley MF, Roscioli T, Bye A, Kilberg MS, Kirk EP. Palmer EE, et al. Among authors: dinger me. Mol Genet Metab. 2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015.08.007. Epub 2015 Aug 14. Mol Genet Metab. 2015. PMID: 26318253 Free PMC article.

3

Claudin-11 and occludin are major contributors to Sertoli cell tight junction function, in vitro.

McCabe MJ, Foo CF, Dinger ME, Smooker PM, Stanton PG. McCabe MJ, et al. Among authors: dinger me. Asian J Androl. 2016 Jul-Aug;18(4):620-6. doi: 10.4103/1008-682X.163189. Asian J Androl. 2016. PMID: 26585695 Free PMC article.

4

Gonadotropin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction.

McCabe MJ, Tarulli GA, Laven-Law G, Matthiesson KL, Meachem SJ, McLachlan RI, Dinger ME, Stanton PG. McCabe MJ, et al. Among authors: dinger me. Hum Reprod. 2016 Apr;31(4):875-86. doi: 10.1093/humrep/dew009. Epub 2016 Feb 18. Hum Reprod. 2016. PMID: 26908839 Clinical Trial.

5

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

Mallawaarachchi AC, Hort Y, Cowley MJ, McCabe MJ, Minoche A, Dinger ME, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Eur J Hum Genet. 2016 Nov;24(11):1584-1590. doi: 10.1038/ejhg.2016.48. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165007 Free PMC article.

6

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Kumar KR, Wali GM, Kamate M, Wali G, Minoche AE, Puttick C, Pinese M, Gayevskiy V, Dinger ME, Roscioli T, Sue CM, Cowley MJ. Kumar KR, et al. Among authors: dinger me. Neurogenetics. 2016 Oct;17(4):265-270. doi: 10.1007/s10048-016-0495-z. Epub 2016 Sep 28. Neurogenetics. 2016. PMID: 27679996 Free PMC article.

7

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.

De Sousa SMC, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI. De Sousa SMC, et al. Among authors: dinger me. Eur J Endocrinol. 2017 May;176(5):635-644. doi: 10.1530/EJE-16-0944. Epub 2017 Feb 20. Eur J Endocrinol. 2017. PMID: 28220018

8

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C. Ewans LJ, et al. Among authors: dinger me. Eur J Hum Genet. 2017 Jun;25(6):763-767. doi: 10.1038/ejhg.2017.29. Epub 2017 Mar 15. Eur J Hum Genet. 2017. PMID: 28295038 Free PMC article.

9

Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression.

Zeraati M, Moye AL, Wong JWH, Perera D, Cowley MJ, Christ DU, Bryan TM, Dinger ME. Zeraati M, et al. Among authors: dinger me. Sci Rep. 2017 Apr 6;7(1):708. doi: 10.1038/s41598-017-00739-y. Sci Rep. 2017. PMID: 28386116 Free PMC article.

10

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Gururaj S, Palmer EE, Sheehan GD, Kandula T, Macintosh R, Ying K, Morris P, Tao J, Dias KR, Zhu Y, Dinger ME, Cowley MJ, Kirk EP, Roscioli T, Sachdev R, Duffey ME, Bye A, Bhattacharjee A. Gururaj S, et al. Cell Rep. 2017 Oct 24;21(4):926-933. doi: 10.1016/j.celrep.2017.09.088. Cell Rep. 2017. PMID: 29069600 Free PMC article.

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