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Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice.
Gnarra JR, Ward JM, Porter FD, Wagner JR, Devor DE, Grinberg A, Emmert-Buck MR, Westphal H, Klausner RD, Linehan WM. Gnarra JR, et al. Among authors: porter fd. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9102-7. doi: 10.1073/pnas.94.17.9102. Proc Natl Acad Sci U S A. 1997. PMID: 9256442 Free PMC article.
The LIM homeobox gene Lhx9 is essential for mouse gonad formation.
Birk OS, Casiano DE, Wassif CA, Cogliati T, Zhao L, Zhao Y, Grinberg A, Huang S, Kreidberg JA, Parker KL, Porter FD, Westphal H. Birk OS, et al. Among authors: porter fd. Nature. 2000 Feb 24;403(6772):909-13. doi: 10.1038/35002622. Nature. 2000. PMID: 10706291
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC. Cabral WA, et al. Among authors: porter fd. Genet Med. 2012 May;14(5):543-51. doi: 10.1038/gim.2011.44. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22281939 Free PMC article.
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.
Francis KR, Ton AN, Xin Y, O'Halloran PE, Wassif CA, Malik N, Williams IM, Cluzeau CV, Trivedi NS, Pavan WJ, Cho W, Westphal H, Porter FD. Francis KR, et al. Among authors: porter fd. Nat Med. 2016 Apr;22(4):388-96. doi: 10.1038/nm.4067. Epub 2016 Mar 21. Nat Med. 2016. PMID: 26998835 Free PMC article.
217 results