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1_3_1_2_114.pdf

Letter from Elaine Purcell to Jennifer Marshall

Acknowledgement of receipt of copies of an entered book

Type: other
Creators: Purcell, Elaine;
Year: 2020
Access: openAccess
Status: Live|Last updated:16 June 2023 12:52
Relevance: 3.625
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JBMR Plus - 2023 - Kooblall - A Mouse Model with a Frameshift Mutation in the Nuclear Factor I X  NFIX  Gene Has Phenotypic.pdf

A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall-Smith Syndrome

…alities, namely, Malan syndrome (MAL) and Marshall–Smith syndrome (MSS). NFIX mutations associated with MAL mainly cluster in exon 2 and are cleared by nonsense-mediated decay (NMD) leading to NFIX haploinsufficiency, whereas NFIX mutations associated with MSS are clustered in exons 6–10 and escape NMD and result in the production of dominant-negative mutant NFIX proteins. Thus, different NFIX mutations have distinct consequences on NFIX expression. To elucidate the in vivo effects of MSS-associated NFIX exon 7 mutations, we used CRISPR-Cas9 to generate mouse models with exon 7 deletions that comprised: a frameshift deletion of two nucleotides (Nfix Del2); in-frame deletion of 24 nucleotides (Nfix Del24); and deletion of 140 nucleotides (Nfix Del140). Nfix+/Del2, Nfix+/Del24, Nfix+/Del140, NfixDel24/Del24, and NfixDel140/Del140 mice were viable, normal, and fertile, with no skeletal abnormalities, but NfixDel2/Del2 mice had significantly reduced viability (p < 0.002) and died at 2–3 weeks of age. Nfix Del2 w…

Type: journal article
Creators: Kooblall, Kreepa G.; Stevenson, Mark; Stewart, Michelle; Harris, Lachlan; Zalucki, Oressia; Dewhurst, Hannah; Butterfield, Natalie; Leng Houfu; Hough, Tertius A.; Ma Da; Siow, Bernard; Potter, Paul; Cox, Roger D.; Brown, Stephen D.M.; Horwood, Nicole; Wright, Benjamin; Lockstone, Helen; Buck, David; Vincent, Tonia L.; Hannan, Fadil M.; Bassett, J.H. Du...
Year: 2023
Access: openAccess
Status: Live|Last updated:14 April 2023 14:26
Relevance: 2.6
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Planning, regions, academiaapril25.pdf

Planning, regions and academia

Type: journal article
Year: 2012
Access: openAccess
Status: Live|Last updated:09 September 2019 10:04
Relevance: 0.675
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ptmbjuly2011The Barcelona regional plan.pdf

The Barcelona regional plan

Type: journal article
Year: 2012
Access: openAccess
Status: Live|Last updated:09 September 2019 10:11
Relevance: 0.506
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Polish diasporic Catholicism in Scotland - 9781350203853 - 2022 - Palacz.pdf

Polish diasporic Catholicism in Scotland

Type: book part
Creators: Palacz, Michał Adam;
Year: 2022
Access: postEmbargoOpenAccess
Status: Live|Last updated:16 December 2022 11:34
Relevance: 0.422
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Walking through rapeseed, nr. Lytchett Matravers

Walking through a field of dried, brittle rapeseed somewhere near Lytchett Matravers, on the way to Sturminster Marshall, during Walk 2012

Type: sound
Creators: Ford, Felicity;
Year: 2012
Access: openAccess
Status: Live|Last updated:21 March 2019 16:15
Relevance: 0.417
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Easter in Christian Theology

The Significance of Easter in Christian Theology A discussion of the significance of Easter and its implications for creation in Christian Theology.

Status: Live|Last updated:17 October 2017 16:07
Relevance: 0.298
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fulltext.pdf

Bridging configurational and urban tissue analysis

The paper reports on theoretical research building on the work of Steadman, Marshall and others that examines in detail the basis for correlating the outputs of configurational analysis and urban tissue analysis. The aim of the research is to raise the yield of analysis when combining configurational and typo-morphological methods. A broader, overarching aim is to establish a bridge between the two different approaches to urban morphology that facilitates communication and helps to develop a more comprehensive and coherent set of concepts for understanding the structure and dynamics of the built environment.

Type: conference paper
Year: 2017
Access: postEmbargoOpenAccess
Status: Live|Last updated:24 June 2019 15:30
Relevance: 0.298
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1_3_1_1_211.pdf

Correspondence regarding John Fowles' judging fee: Part 10

Correspondence regarding the whereabouts of one of the judges's fee cheque, 7 Jun-29 Aug 1972

Type: other
Creators: Marshall, Jenifer;
Year: 2020
Access: openAccess
Status: Live|Last updated:16 June 2023 13:04
Relevance: 0.295
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The Spirit, the Christian Community and the Resurrection

A flash video discussion of the Christian theology of Easter as a historical and continuing event in the Christian community.

Status: Live|Last updated:17 October 2017 16:07
Relevance: 0.253
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