Santos C - Search Results

1

Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice.

Santos C, Pai YJ, Mahmood MR, Leung KY, Savery D, Waddington SN, Copp AJ, Greene N. Santos C, et al. J Clin Invest. 2020 Mar 2;130(3):1446-1452. doi: 10.1172/JCI132360. J Clin Invest. 2020. PMID: 31794432 Free PMC article.

2

Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure.

Leung KY, Pai YJ, Chen Q, Santos C, Calvani E, Sudiwala S, Savery D, Ralser M, Gross SS, Copp AJ, Greene NDE. Leung KY, et al. Among authors: santos c. Cell Rep. 2017 Nov 14;21(7):1795-1808. doi: 10.1016/j.celrep.2017.10.072. Cell Rep. 2017. PMID: 29141214 Free PMC article.

3

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.

Leung KY, De Castro SCP, Santos C, Savery D, Prunty H, Gold-Diaz D, Bennett S, Heales S, Copp AJ, Greene NDE. Leung KY, et al. Among authors: santos c. J Inherit Metab Dis. 2020 Nov;43(6):1186-1198. doi: 10.1002/jimd.12295. Epub 2020 Aug 11. J Inherit Metab Dis. 2020. PMID: 32743799 Free PMC article.

4

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.

Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA; Genomics England Research Consortium; Finnell RH, Ross ME, Copp AJ, Greene NDE. Crane-Smith Z, et al. Among authors: santos c. Hum Mol Genet. 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094. Hum Mol Genet. 2023. PMID: 37364051 Free PMC article.

5

AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia.

Leung KY, Santos C, De Castro SCP, Diaz DG, Copp AJ, Waddington S, Greene NDE. Leung KY, et al. Among authors: santos c. Mol Genet Metab. 2024 May 15;142(3):108496. doi: 10.1016/j.ymgme.2024.108496. Online ahead of print. Mol Genet Metab. 2024. PMID: 38761651 Free article.

6

Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons.

Lin S, Ren A, Wang L, Santos C, Huang Y, Jin L, Li Z, Greene NDE. Lin S, et al. Among authors: santos c. Clin Epigenetics. 2019 Jan 21;11(1):13. doi: 10.1186/s13148-019-0611-7. Clin Epigenetics. 2019. PMID: 30665459 Free PMC article.

7

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

Thomas AC, Heux P, Santos C, Arulvasan W, Solanky N, Carey ME, Gerrelli D, Kinsler VA, Etchevers HC. Thomas AC, et al. Among authors: santos c. Birth Defects Res. 2018 Mar 15;110(5):443-455. doi: 10.1002/bdr2.1183. Epub 2018 Jan 8. Birth Defects Res. 2018. PMID: 29316344 Free PMC article.

8

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.

Harkin LF, Gerrelli D, Gold Diaz DC, Santos C, Alzu'bi A, Austin CA, Clowry GJ. Harkin LF, et al. Among authors: santos c. J Anat. 2016 Mar;228(3):452-63. doi: 10.1111/joa.12416. Epub 2015 Nov 27. J Anat. 2016. PMID: 26612825 Free PMC article.

9

Pigmented polypoid basal cell carcinoma: a rare clinicopathological variant.

Fantini BC, Santos CAD, Barros Junior SA, Silva Souza CD. Fantini BC, et al. Among authors: santos cad. An Bras Dermatol. 2024 Jun 7:S0365-0596(24)00101-6. doi: 10.1016/j.abd.2023.03.011. Online ahead of print. An Bras Dermatol. 2024. PMID: 38851893 Free article. No abstract available.

10

The Risk of Virus Emergence in South America: A Subtle Balance Between Increasingly Favorable Conditions and a Protective Environment.

de Thoisy B, Gräf T, Mansur DS, Delfraro A, Dos Santos CND. de Thoisy B, et al. Among authors: dos santos cnd. Annu Rev Virol. 2024 Jun 7. doi: 10.1146/annurev-virology-100422-024648. Online ahead of print. Annu Rev Virol. 2024. PMID: 38848594 Review.

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