Author: K. Prescott

0000000001310359

AUTHOR

K. Prescott

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …

research product

CCDC 157962: Experimental Crystal Structure Determination

Related Article: P.J.Skabara, R.Berridge, K.Prescott, L.M.Goldenberg, E.Orti, R.Viruela, R.Pou-Amerigo, A.S.Batsanov, J.A.K.Howard, S.J.Coles, M.B.Hursthouse|2000|J.Mater.Chem.|10|2448|doi:10.1039/b003910l

research product

CCDC 157964: Experimental Crystal Structure Determination

Related Article: P.J.Skabara, R.Berridge, K.Prescott, L.M.Goldenberg, E.Orti, R.Viruela, R.Pou-Amerigo, A.S.Batsanov, J.A.K.Howard, S.J.Coles, M.B.Hursthouse|2000|J.Mater.Chem.|10|2448|doi:10.1039/b003910l

research product

CCDC 157963: Experimental Crystal Structure Determination

Related Article: P.J.Skabara, R.Berridge, K.Prescott, L.M.Goldenberg, E.Orti, R.Viruela, R.Pou-Amerigo, A.S.Batsanov, J.A.K.Howard, S.J.Coles, M.B.Hursthouse|2000|J.Mater.Chem.|10|2448|doi:10.1039/b003910l

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PEPhysical Sciences and Engineering
- PE2Fundamental Constituents of Matter
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LSLife Sciences
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- LS3Cell Biology, Development, Stem Cells and Regeneration
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SHSocial Sciences and Humanities
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