[HTML][HTML] The role of sonic hedgehog in human holoprosencephaly and Short-Rib polydactyly syndromes

CKC Loo, MA Pearen, GA Ramm - International Journal of Molecular …, 2021 - mdpi.com
The Hedgehog (HH) signalling pathway is one of the major pathways controlling cell
differentiation and proliferation during human development. This pathway is complex, with …

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly

CDP Bertolacini, A Richieri-Costa… - Brain and …, 2010 - Elsevier
Holoprosencephaly (HPE) is a malformation sequence where the cerebral hemispheres fail
to separate into distinct left and right halves. It can be associated with midline structural …

Human developmental disorders and the Sonic hedgehog pathway

JE Ming, E Roessler, M Muenke - Molecular medicine today, 1998 - cell.com
Sonic hedgehog (Shh) is a morphogen that is crucial for normal development of a variety of
organ systems, including the brain and spinal cord, the eye, craniofacial structures, and the …

[HTML][HTML] Functional characterization of sonic hedgehog mutations associated with holoprosencephaly

E Traiffort, C Dubourg, H Faure, D Rognan… - Journal of Biological …, 2004 - ASBMB
Mutations of the developmental gene Sonic hedgehog (SHH) and alterations of SHH
signaling have been associated with holoprosencephaly (HPE), a rare disorder …

Sonic hedgehog signaling in craniofacial development

J Xu, PPR Iyyanar, Y Lan, R Jiang - Differentiation, 2023 - Elsevier
Mutations in SHH and several other genes encoding components of the Hedgehog
signaling pathway have been associated with holoprosencephaly syndromes, with …

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

S Odent, T Attié-Bitach, M Blayau… - Human Molecular …, 1999 - academic.oup.com
Holoprosencephaly (HPE), the most common developmental defect of the forebrain and the
face, is genetically heterogeneous. One of the genes involved, Sonic hedgehog (SHH), on …

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

JE Ming, ME Kaupas, E Roessler, HG Brunner… - Human genetics, 2002 - Springer
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain
anomaly in humans. HPE is associated with mental retardation and craniofacial …

[引用][C] Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies

P Bakrania, SA Ugur Iseri, AW Wyatt… - American Journal of …, 2010 - Wiley Online Library
The hedgehog (Hh) signaling cascade is crucial for the correct development and patterning
of various vertebrate tissues and organs, including the brain and spinal cord, eye …

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation

U Hehr, C Gross, U Diebold, D Wahl, U Beudt… - European journal of …, 2004 - Springer
Mutations in the human sonic hedgehog gene (SHH) are the most frequent cause of
autosomal dominant inherited holoprosencephaly (HPE), a complex brain malformation …

Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner

S Singh, R Tokhunts, V Baubet, JA Goetz, ZJ Huang… - Human genetics, 2009 - Springer
Sonic hedgehog (SHH) plays an important instructional role in vertebrate development, as
exemplified by the numerous developmental disorders that occur when the SHH pathway is …