Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

SIP1, a Novel Zinc Finger/Homeodomain Repressor, Interacts with Smad Proteins and Binds to 5′-CACCT Sequences in Candidate Target Genes

Kristin Verschueren, Jacques Remacle, Clara Collart et al. · Journal of Biological Chemistry · 1999 · 504 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene

Hiromi Yanagisawa, Masashi Yanagisawa, Raj P. Kapur et al. · Development · 1998 · 495 citations

Life Sciences, Developmental Biology, Genetics +12

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

David Mowat, Geoffrey David Hain Croaker, Daniel T. Cass et al. · Journal of Medical Genetics · 1998 · 273 citations · Full text

Life Sciences, Genetics, Pediatrics +16

New mode of DNA binding of multi‐zinc finger transcription factors: δEF1 family members bind with two hands to two target sites

Jacques Remacle · The EMBO Journal · 1999 · 271 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Hirschsprung megacolon and cleft palate in two sibs.

Rosalie Goldberg, Robert J. Shprintzen · PubMed · 1981 · 79 citations

Medicine, Genetics, Pediatrics +13