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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

Data up to Jan 2025

Published2002
Citations243
References26

Total Citations Per Year

Abstract

References (26)

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1996 • 3,041 citations

Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

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1996 • 889 citations

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1999 • 857 citations

Biochemical evidence that Patched is the Hedgehog receptor

1996 • 852 citations

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1996 • 829 citations

Basal Cell Carcinomas in Mice Overexpressing Sonic Hedgehog

1997 • 712 citations

Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours

1997 • 633 citations

Smoothened Mutants Reveal Redundant Roles for Shh and Ihh Signaling Including Regulation of L/R Asymmetry by the Mouse Node

2001 • 599 citations

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2000 • 396 citations

The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants

1998 • 371 citations

A Hedgehog-Insensitive Form of Patched Provides Evidence for Direct Long-Range Morphogen Activity of Sonic Hedgehog in the Neural Tube

2001 • 364 citations

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

1999 • 353 citations

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1977 • 320 citations

Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors.

1997 • 315 citations

Induction of basal cell carcinoma features in transgenic human skin expressing Sonic Hedgehog

1997 • 277 citations

Holoprosencephaly: Epidemiologic and clinical characteristics of a California population

1996 • 195 citations

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

1997 • 169 citations

Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly

1999 • 149 citations

Overexpression of ptc1 Inhibits Induction of Shh Target Genes and Prevents Normal Patterning in the Neural Tube

1999 • 77 citations

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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with… (2002) – Human Genetics | Metascience Observatory Explorer