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Keywords: Holoprosencephaly
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Journal Articles
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: 05 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
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
Journal: Development
Development (2016) 143 (23): 4462–4473.
Published: 01 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: Development
Development (2007) 134 (21): 3789–3794.
Published: 01 November 2007
...Marie Fernandes; Grigoriy Gutin; Heather Alcorn; Susan K. McConnell; Jean M. Hébert Holoprosencephaly (HPE) is a devastating forebrain abnormality with a range of morphological defects characterized by loss of midline tissue. In the telencephalon, the embryonic precursor of the cerebral...
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: 01 September 2005
... elicit the spectrum of holoprosencephaly phenotypes. J. Clin. Invest. 114 , 485 -494. Couly, G., Coltey, P. M. and LeDouarin, N. M. ( 1993 ). The triple origin of the skull in higher vertebrates: a study in chick-quail chimeras. Development 117 , 409 -429. Couly, G., Creuzet, S., Bennaceur...
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: 01 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...