Dunwoodie S - Search Results

1

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. Turnpenny PD, et al. Among authors: dunwoodie s. J Med Genet. 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. J Med Genet. 2003. PMID: 12746394 Free PMC article.

2

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G. Boycott KM, et al. Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040. Cell. 2019. PMID: 30901545 Free article.

3

Transcriptional activating activity of Smad4: roles of SMAD hetero-oligomerization and enhancement by an associating transactivator.

Shioda T, Lechleider RJ, Dunwoodie SL, Li H, Yahata T, de Caestecker MP, Fenner MH, Roberts AB, Isselbacher KJ. Shioda T, et al. Among authors: dunwoodie sl. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9785-90. doi: 10.1073/pnas.95.17.9785. Proc Natl Acad Sci U S A. 1998. PMID: 9707553 Free PMC article.

4

Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+).

Mark PR, Dunwoodie SL. Mark PR, et al. Birth Defects Res. 2022 Dec 1;114(20):1313-1323. doi: 10.1002/bdr2.2089. Epub 2022 Sep 17. Birth Defects Res. 2022. PMID: 36453269

5

Cooperation between somatic Ikaros and Notch1 mutations at the inception of T-ALL.

Sontani Y, Chapman G, Papathanasiou P, Dunwoodie S, Goodnow CC, Hoyne GF. Sontani Y, et al. Among authors: dunwoodie s. Leuk Res. 2011 Nov;35(11):1512-9. doi: 10.1016/j.leukres.2011.07.024. Epub 2011 Aug 15. Leuk Res. 2011. PMID: 21840596 Free article.

6

Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice.

Cuny H, Bozon K, Kirk RB, Sheng DZ, Bröer S, Dunwoodie SL. Cuny H, et al. Among authors: dunwoodie sl. Dis Model Mech. 2023 May 1;16(5):dmm049647. doi: 10.1242/dmm.049647. Epub 2022 Nov 14. Dis Model Mech. 2023. PMID: 36374036 Free PMC article.

7

Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line.

Moradi Marjaneh M, Kirk EP, Patrick R, Alankarage D, Humphreys DT, Del Monte-Nieto G, Cornejo-Paramo P, Janbandhu V, Doan TB, Dunwoodie SL, Wong ES, Moran C, Martin ICA, Thomson PC, Harvey RP. Moradi Marjaneh M, et al. Among authors: dunwoodie sl. Elife. 2023 Jun 5;12:e83606. doi: 10.7554/eLife.83606. Elife. 2023. PMID: 37272612 Free PMC article.

8

Myeloid-CITED2 Deficiency Exacerbates Diet-Induced Obesity and Pro-Inflammatory Macrophage Response.

Zafar A, Ng HP, Chan ER, Dunwoodie SL, Mahabeleshwar GH. Zafar A, et al. Among authors: dunwoodie sl. Cells. 2023 Aug 24;12(17):2136. doi: 10.3390/cells12172136. Cells. 2023. PMID: 37681868 Free PMC article.

9

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A. van de Putte R, et al. Among authors: dunwoodie sl. Front Pediatr. 2020 Jun 23;8:310. doi: 10.3389/fped.2020.00310. eCollection 2020. Front Pediatr. 2020. PMID: 32656166 Free PMC article.

10

Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system.

Kusumi K, Dunwoodie SL, Krumlauf R. Kusumi K, et al. Among authors: dunwoodie sl. Mech Dev. 2001 Jan;100(1):141-4. doi: 10.1016/s0925-4773(00)00514-1. Mech Dev. 2001. PMID: 11118901 Free article.

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