Kumar R - Search Results

1

Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties.

Mincheva-Tasheva S, Pfitzner C, Kumar R, Kurtsdotter I, Scherer M, Ritchie T, Muhr J, Gecz J, Thomas PQ. Mincheva-Tasheva S, et al. Among authors: kumar r. Open Biol. 2024 Apr;14(4):230383. doi: 10.1098/rsob.230383. Epub 2024 Apr 17. Open Biol. 2024. PMID: 38629124 Free PMC article.

2

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.

Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ. Pederick DT, et al. Among authors: kumar r. Neuron. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005. Neuron. 2018. PMID: 29301106 Free article.

3

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).

Pham DH, Tan CC, Homan CC, Kolc KL, Corbett MA, McAninch D, Fox AH, Thomas PQ, Kumar R, Gecz J. Pham DH, et al. Among authors: kumar r. Hum Mol Genet. 2017 Jun 1;26(11):2042-2052. doi: 10.1093/hmg/ddx094. Hum Mol Genet. 2017. PMID: 28334947 Free PMC article.

4

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Kolc KL, Møller RS, Sadleir LG, Scheffer IE, Kumar R, Gecz J. Kolc KL, et al. Among authors: kumar r. Adv Exp Med Biol. 2020;1298:177-187. doi: 10.1007/5584_2020_574. Adv Exp Med Biol. 2020. PMID: 32852734

5

Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.

de Nys R, Kumar R, Gecz J. de Nys R, et al. Among authors: kumar r. Int J Mol Sci. 2021 Sep 9;22(18):9769. doi: 10.3390/ijms22189769. Int J Mol Sci. 2021. PMID: 34575929 Free PMC article. Review.

6

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.

de Nys R, van Eyk CL, Ritchie T, Møller RS, Scheffer IE, Marini C, Bhattacharjee R, Kumar R, Gecz J. de Nys R, et al. Among authors: kumar r. Transl Psychiatry. 2024 Jan 27;14(1):65. doi: 10.1038/s41398-024-02783-5. Transl Psychiatry. 2024. PMID: 38280856 Free PMC article. Review.

7

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.

de Nys R, Gardner A, van Eyk C, Mincheva-Tasheva S, Thomas P, Bhattacharjee R, Jolly L, Martinez-Garay I, Fox IWJ, Kamath KS, Kumar R, Gecz J. de Nys R, et al. Among authors: kumar r. Mol Psychiatry. 2024 Mar 7. doi: 10.1038/s41380-024-02482-z. Online ahead of print. Mol Psychiatry. 2024. PMID: 38454084

8

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Tan C, Shard C, Ranieri E, Hynes K, Pham DH, Leach D, Buchanan G, Corbett M, Shoubridge C, Kumar R, Douglas E, Nguyen LS, Mcmahon J, Sadleir L, Specchio N, Marini C, Guerrini R, Moller RS, Depienne C, Haan E, Thomas PQ, Berkovic SF, Scheffer IE, Gecz J. Tan C, et al. Among authors: kumar r. Hum Mol Genet. 2015 Sep 15;24(18):5250-9. doi: 10.1093/hmg/ddv245. Epub 2015 Jun 29. Hum Mol Genet. 2015. PMID: 26123493

9

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J. Kolc KL, et al. Among authors: kumar r. Transl Psychiatry. 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. Transl Psychiatry. 2020. PMID: 32366910 Free PMC article.

10

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Pham DH, Pitman MR, Kumar R, Jolly LA, Schulz R, Gardner AE, de Nys R, Heron SE, Corbett MA, Kothur K, Gill D, Rajagopalan S, Kolc KL, Halliday BJ, Robertson SP, Regan BM, Kirsch HE, Berkovic SF, Scheffer IE, Pitson SM, Petrovski S, Gecz J. Pham DH, et al. Among authors: kumar r. Hum Mutat. 2021 Aug;42(8):1030-1041. doi: 10.1002/humu.24237. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34082468

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