Nomakuchi T - Search Results

1

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.

O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Mor-Shaked H, Rippert AL, Nomakuchi T, Izumi K, Kollman JM. O'Neill AG, et al. Among authors: nomakuchi t. J Biol Chem. 2023 Aug;299(8):105012. doi: 10.1016/j.jbc.2023.105012. Epub 2023 Jul 4. J Biol Chem. 2023. PMID: 37414152 Free PMC article.

2

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC. Nomakuchi TT, et al. Am J Med Genet A. 2023 May;191(5):1418-1424. doi: 10.1002/ajmg.a.63148. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36794641 Free PMC article.

3

A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype.

Kumar N, Nomakuchi T, Vossough A, Leonard JMM, Dubbs H, Agarwal S. Kumar N, et al. Among authors: nomakuchi t. Pediatr Neurol. 2023 Aug;145:112-114. doi: 10.1016/j.pediatrneurol.2023.04.021. Epub 2023 May 2. Pediatr Neurol. 2023. PMID: 37315340 No abstract available.

4

Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome.

Nomakuchi TT, Alves CAP, Beslow LA, Zarnow D, Goyal N, Zackai EH, Reynoso Santos FJ. Nomakuchi TT, et al. Neuropediatrics. 2024 Feb;55(1):71-74. doi: 10.1055/a-2052-8750. Epub 2023 Mar 13. Neuropediatrics. 2024. PMID: 36914163

5

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.

Clark KJ, Lubin EE, Gonzalez EM, Sangree AK, Layo-Carris DE, Durham EL, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJ. Clark KJ, et al. Among authors: nomakuchi tt. bioRxiv [Preprint]. 2024 Feb 4:2024.02.01.578438. doi: 10.1101/2024.02.01.578438. bioRxiv. 2024. PMID: 38352329 Free PMC article. Preprint.

6

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Kallish S, Ritchie MD; Regeneron Genetics Center; Penn Medicine BioBank; Nathanson KL, Drivas TG. Safonov A, et al. Among authors: nomakuchi tt. medRxiv [Preprint]. 2023 Aug 10:2023.08.08.23293676. doi: 10.1101/2023.08.08.23293676. medRxiv. 2023. PMID: 37609227 Free PMC article. Preprint.

7

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.

O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Shaked HM, Rippert AL, Nomakuchi T, Izumi K, Kollman JM. O'Neill AG, et al. Among authors: nomakuchi t. bioRxiv [Preprint]. 2023 Mar 15:2023.03.15.532669. doi: 10.1101/2023.03.15.532669. bioRxiv. 2023. PMID: 36993700 Free PMC article. Updated. Preprint.

8

Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy.

Marasco LE, Dujardin G, Sousa-Luís R, Liu YH, Stigliano JN, Nomakuchi T, Proudfoot NJ, Krainer AR, Kornblihtt AR. Marasco LE, et al. Among authors: nomakuchi t. Cell. 2022 Jun 9;185(12):2057-2070.e15. doi: 10.1016/j.cell.2022.04.031. Cell. 2022. PMID: 35688133 Free PMC article.

9

Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy.

Kim YJ, Nomakuchi T, Papaleonidopoulou F, Yang L, Zhang Q, Krainer AR. Kim YJ, et al. Among authors: nomakuchi t. Nat Commun. 2022 May 27;13(1):2978. doi: 10.1038/s41467-022-30668-y. Nat Commun. 2022. PMID: 35624092 Free PMC article.

10

Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.

Wild KT, Nomakuchi TT, Sheppard SE, Leavens KF, De León DD, Zackai EH. Wild KT, et al. Among authors: nomakuchi tt. Am J Med Genet A. 2021 Apr;185(4):1251-1255. doi: 10.1002/ajmg.a.62085. Epub 2021 Jan 14. Am J Med Genet A. 2021. PMID: 33442921 Free PMC article.

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