[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 …
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 …
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 …
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 …
signaling have been associated with holoprosencephaly (HPE), a rare disorder …
Sonic hedgehog signaling in craniofacial development
Mutations in SHH and several other genes encoding components of the Hedgehog
signaling pathway have been associated with holoprosencephaly syndromes, with …
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 …
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 …
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 …
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 …
autosomal dominant inherited holoprosencephaly (HPE), a complex brain malformation …
Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner
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 …
exemplified by the numerous developmental disorders that occur when the SHH pathway is …