S
Susan M. Darling
Researcher at University College London
Publications - 11
Citations - 812
Susan M. Darling is an academic researcher from University College London. The author has contributed to research in topics: Mutant & Apical ectodermal ridge. The author has an hindex of 8, co-authored 11 publications receiving 766 citations. Previous affiliations of Susan M. Darling include UCL Institute of Child Health.
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Journal ArticleDOI
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
Lesley M McGregor,Vile Makela,Susan M. Darling,Susan M. Darling,Sofia Vrontou,Georges Chalepakis,Catherine Roberts,Nicola Smart,Paul Rutland,Natalie J. Prescott,Jason Hopkins,Elizabeth Bentley,Alison Shaw,Emma Roberts,Robert F. Mueller,Shalini Jadeja,Nicole Philip,John Nelson,Christine Francannet,Antonio Perez-Aytes,André Mégarbané,Bronwyn Kerr,Brandon J. Wainwright,Adrian S. Woolf,Robin M. Winter,Peter J. Scambler +25 more
TL;DR: It is shown that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous, and the mouse is a model for Fraser syndrome in humans, a disorder caused by disrupted epithelial integrity in utero.
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Proliferation and migration of primordial germ cells in We/We mouse embryos
TL;DR: The numbers and distribution of primordial germ cells in The authors/They, They/+, and +/+ mouse embryos are examined using Southern blotting to determine embryo genotypes.
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The genetic basis of XX-XY differences present before gonadal sex differentiation in the mouse.
TL;DR: It is concluded that the Y chromosome of most mouse strains carries a factor which accelerates preimplantation development and that the resulting developmental advantage is carried over into the postim implantation period.
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Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
Shalini Jadeja,Ian M. Smyth,Ian M. Smyth,Jolanta E. Pitera,Martin S. Taylor,Mieke M. van Haelst,Elizabeth Bentley,Lesley M McGregor,Jason Hopkins,Georges Chalepakis,Nicole Philip,Antonio Perez Aytes,Fiona M. Watt,Susan M. Darling,Ian J. Jackson,Adrian S. Woolf,Peter J. Scambler +16 more
TL;DR: This work mapped my to Frem2, a gene related to Fras1 and Frem1, and showed that a Frem2 gene-trap mutation was allelic to my, suggesting that calcium binding in the CALXβ-cadherin motif is important for normal functioning of FREM2.
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Altered expression of insulin-like growth factor-1 and insulin like growth factor binding proteins-2 and 5 in the mouse mutant Hypodactyly (Hd) correlates with sites of apoptotic activity.
TL;DR: It is proposed that these three components of the IGF axis could be involved in the manifestation of the mutant phenotype in Hypodactyly, and that this is probably a result of their ability to regulate cell survival and cell death.