PubMed (OMIM) for id: 4858

Year	Number of Results
1997	1
1998	1
2000	1
2005	1
2006	1
2007	1
2019	1
2020	1
2024	0

1

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A. Mattioli F, et al. Am J Hum Genet. 2020 Apr 2;106(4):438-452. doi: 10.1016/j.ajhg.2020.02.013. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197073 Free PMC article.

2

Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function.

Saito Y, Yuan Y, Zucker-Scharff I, Fak JJ, Jereb S, Tajima Y, Licatalosi DD, Darnell RB. Saito Y, et al. Neuron. 2019 Feb 20;101(4):707-720.e5. doi: 10.1016/j.neuron.2018.12.019. Epub 2019 Jan 9. Neuron. 2019. PMID: 30638744 Free PMC article.

3

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

Heinzen EL, Yoon W, Tate SK, Sen A, Wood NW, Sisodiya SM, Goldstein DB. Heinzen EL, et al. Am J Hum Genet. 2007 May;80(5):876-83. doi: 10.1086/516650. Epub 2007 Apr 3. Am J Hum Genet. 2007. PMID: 17436242 Free PMC article.

4

An RNA map predicting Nova-dependent splicing regulation.

Ule J, Stefani G, Mele A, Ruggiu M, Wang X, Taneri B, Gaasterland T, Blencowe BJ, Darnell RB. Ule J, et al. Nature. 2006 Nov 30;444(7119):580-6. doi: 10.1038/nature05304. Epub 2006 Oct 25. Nature. 2006. PMID: 17065982

5

Nova regulates brain-specific splicing to shape the synapse.

Ule J, Ule A, Spencer J, Williams A, Hu JS, Cline M, Wang H, Clark T, Fraser C, Ruggiu M, Zeeberg BR, Kane D, Weinstein JN, Blume J, Darnell RB. Ule J, et al. Nat Genet. 2005 Aug;37(8):844-52. doi: 10.1038/ng1610. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041372

6

ANOVA, a putative astrocytic RNA-binding protein gene that maps to chromosome 19q13.3.

Ueki K, Ramaswamy S, Billings SJ, Mohrenweiser HW, Louis DN. Ueki K, et al. Neurogenetics. 1997 May;1(1):31-6. doi: 10.1007/s100480050005. Neurogenetics. 1997. PMID: 10735272

7

Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome.

Lewis HA, Musunuru K, Jensen KB, Edo C, Chen H, Darnell RB, Burley SK. Lewis HA, et al. Cell. 2000 Feb 4;100(3):323-32. doi: 10.1016/s0092-8674(00)80668-6. Cell. 2000. PMID: 10676814 Free article.

8

The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia.

Yang YY, Yin GL, Darnell RB. Yang YY, et al. Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13254-9. doi: 10.1073/pnas.95.22.13254. Proc Natl Acad Sci U S A. 1998. PMID: 9789075 Free PMC article.

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