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Keywords: Holoprosencephaly
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Journal Articles
In collection:
Neural development
Journal: Development
Development (2021) 148 (21): dev200080.
Published: 11 November 2021
.... Summary: GAS1 acts as co-receptor that integrates signaling by sonic hedgehog and NOTCH in neural progenitor cells, which are essential for controlling the differentiation of the forebrain neuroepithelium. Forebrain organizer region Holoprosencephaly NOTCH intracellular domain Neuroepithelial...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2021) 148 (19): dev199585.
Published: 5 October 2021
... inhibition is associated with birth defects, including holoprosencephaly (HPE). Cannabinoids are HH pathway inhibitors, but little is known of their effects on HH-dependent processes in mammalian embryos, and their mechanism of action is unclear. We report that the psychoactive cannabinoid Δ9...
Includes: Supplementary data
Journal Articles
In collection:
Neural development
Journal: Development
Development (2021) 148 (17): dev199307.
Published: 31 August 2021
...) pathway lead to severe brain malformations with variable penetrance due to unknown modifier genes. To identify such modifiers, we established novel congenic mouse models. LRP2-deficient C57BL/6N mice suffer from heart outflow tract defects and holoprosencephaly caused by impaired SHH activity...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2020) 147 (23): dev189076.
Published: 14 December 2020
... to mediate proper HH signaling. Here, we investigated the individual and combined contributions of GAS1, CDON and BOC to HH-dependent mammalian craniofacial development. Notably, individual deletion of either Gas1 or Cdon results in variable holoprosencephaly phenotypes in mice, even on a congenic background...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2020) 147 (21): dev191064.
Published: 17 July 2020
...: This Spotlight discusses the role of gene-environment interactions in birth defects, argues for better alignment of research approaches with complex etiology, and prescribes strategies for discovery of new interactions. Gene-environment interaction Birth defect Orofacial clefts Holoprosencephaly...
Journal Articles
In collection:
Neural development
Journal: Development
Development (2016) 143 (23): 4462–4473.
Published: 1 December 2016
...Xin Geng; Sandra Acosta; Oleg Lagutin; Hyea Jin Gil; Guillermo Oliver Holoprosencephaly (HPE) is defined as the incomplete separation of the two cerebral hemispheres. The pathology of HPE is variable and, based on the severity of the defect, HPE is divided into alobar, semilobar, and lobar. Using...
Includes: Supplementary data
Journal Articles
In collection:
Neural development
Journal: Development
Development (2016) 143 (23): 4462–4473.
Published: 1 December 2016
...Xin Geng; Sandra Acosta; Oleg Lagutin; Hyea Jin Gil; Guillermo Oliver Holoprosencephaly (HPE) is defined as the incomplete separation of the two cerebral hemispheres. The pathology of HPE is variable and, based on the severity of the defect, HPE is divided into alobar, semilobar, and lobar. Using...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2014) 141 (12): 2494–2505.
Published: 15 June 2014
... interference (RNAi), was performed in pre-migratory FNC cells. Soon after electroporation of RNAi molecules, Smad1 inactivation abolished the expression of Foxg1 in the chick telencephalon, resulting in dramatic microcephaly and partial holoprosencephaly. In addition, the depletion of Foxg1 activity altered...
Journal Articles
Journal Articles
Journal: Development
Development (2006) 133 (4): 761–772.
Published: 15 February 2006
... is perturbed resulting in holoprosencephaly (HPE), a structural malformation of the brain, as well as in neuronal patterning and path finding defects along the length of the anteroposterior neuraxis. Central to the understanding of ventral neural tube development is how Shh transcription is regulated...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2005) 132 (17): 3977–3988.
Published: 1 September 2005
... in holoprosencephalic humans. * Author for correspondence (e-mail: tschilli@uci.edu ) 16 6 2005 ©2005. 2005 Craniofacial Cleft palate Neural crest Holoprosencephaly Danio rerio Shh is a secreted protein expressed in several different cranial tissues in the embryo, including...
Includes: Multimedia, Supplementary data
Journal Articles
Journal: Development
Development (2005) 132 (2): 405–414.
Published: 15 January 2005
... mice results in holoprosencephaly,indicating an essential yet unidentified function in forebrain development. We used mice with complete or conditional megalin gene inactivation in the embryo to demonstrate that expression of megalin in the neuroepithelium but not in the yolk sac is crucial for brain...
Journal Articles
Journal: Development
Development (2004) 131 (2): 413–424.
Published: 15 January 2004
... provide evidence that Tsg interacts genetically with Bmp4 . When only one copy of Bmp4 is present, a requirement of Tsg for embryonic development is revealed. Tsg -/- ;Bmp4 +/- compound mutants die at birth and display holoprosencephaly, first branchial arch and eye defects. The results show that Tsg...
Journal Articles
Journal: Development
Development (2002) 129 (21): 4975–4987.
Published: 1 November 2002
... phenotypes include cyclopia,holoprosencephaly, and rostral truncations of the brain and craniofacial skeleton. In situ hybridization reveals a loss of SHH expression and signaling by the prechordal plate, and a decrease in FGF8 expression and signaling by the anterior neural ridge at the five-somite stage...
Journal Articles
Journal: Development
Development (1999) 126 (24): 5533–5546.
Published: 15 December 1999
... Cyclopia Holoprosencephaly Zebrafish Danio rerio Gene expression Morphogenesis odd-paired-like ( opl ) During development, vertebrate embryos normally form two, bilateral eyes. The retinas are derived from the anterior neural plate. Under the influence of various genetic ( Cohen, 1989...
Journal Articles
Journal: Development
Development (1999) 126 (21): 4873–4884.
Published: 1 November 1999
...Diane Hu; Jill A. Helms There is growing evidence that implicates a role for Sonic hedgehog (SHH) in morphogenesis of the craniofacial complex. Mutations in human and murine SHH cause midline patterning defects that are manifested in the head as holoprosencephaly and cyclopia. In addition...
Journal Articles
Journal: Development
Development (1998) 125 (18): 3553–3562.
Published: 15 September 1998
...John P. Incardona; William Gaffield; Raj P. Kapur; Henk Roelink ABSTRACT The steroidal alkaloid cyclopamine produces cyclopia and holoprosencephaly when administered to gastrulation-stage amniote embryos. Cyclopamine-induced malformations in chick embryos are associated with interruption of Sonic...
Journal Articles
Journal: Development
Development (1996) 122 (8): 2555–2567.
Published: 1 August 1996
... genes transgenic mice neural tube floor plate notochord holoprosencephaly polydactyly mouse During the development of the nervous system, the relative position of the neural precursors along the rostrocaudal and dorsoventral axis is a major determinant of their final differentiation fate...