A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle

X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Juha Kere, Anand Srivastava, Outi Montonen et al. · Nature Genetics · 1996 · 756 citations

Life Sciences, Genetics, Molecular Genetics +13

Specific interactions between proteins implicated in splice site selection and regulated alternative splicing

Jane Y. Wu, Tom Maniatis · Cell · 1993 · 749 citations

Life Sciences, Molecular Biology, Molecular Genetics +15

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Alex W. Monreal, Betsy Ferguson, Denis J. Headon et al. · Nature Genetics · 1999 · 406 citations

Life Sciences, Genetics, Molecular Genetics +12

A new regulatory protein, KSRP, mediates exon inclusion through an intronic splicing enhancer.

Hosung Min, Christoph W. Turck, Julia Nikolic et al. · Genes & Development · 1997 · 330 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Two-Amino Acid Molecular Switch in an Epithelial Morphogen That Regulates Binding to Two Distinct Receptors

Minhong Yan, Li-Chong Wang, S.G. Hymowitz et al. · Science · 2000 · 316 citations

Life Sciences, Genetics, Molecular Biology +17