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Keywords: Craniofacial development
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Journal Articles

Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis

Open Access
In collection:
Rare Disease Translational Research
Marek Hampl, Nela Jandová, Denisa Lusková, Monika Nováková, Tereza Szotkowská, Štěpán Čada, Jan Procházka, Jiri Kohoutek, Marcela Buchtová
Journal: Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050261.
https://doi.org/10.1242/dmm.050261
Published: 20 June 2024
... the developing palatal shelves of Cdk13 tm1a/tm1a embryos (Fig. S2A-C). As we observed distinct changes in facial and palatal morphogenesis in Cdk13 -deficient embryos, we asked if there is localized expression of Cdk13 mRNA within certain areas during craniofacial development. We evaluated gene...
View articletitled, Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis
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Includes: Supplementary data
Journal Articles

Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development

Open Access
In collection:
Developmental Disorders
Sung-Eun Kim, Pooja J. Chothani, Rehana Shaik, Westley Pollard, Richard H. Finnell
Journal: Disease Models & Mechanisms
Dis Model Mech (2023) 16 (11): dmm050277.
https://doi.org/10.1242/dmm.050277
Published: 28 November 2023
... neural tube development. Gpr161 Pax3 Wnt/β-catenin signaling Craniofacial development Spinal neural tube National Institutes of Health HD093758 HD067244 Baylor College of Medicine http://dx.doi.org/10.13039/100007915 The embryonic neural tube...
View articletitled, Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development
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Includes: Supplementary data
Journal Articles

Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish

Open Access
In collection:
Developmental Disorders , Zebrafish as a Disease Model
Lorena Maili, Oscar E. Ruiz, Philip H. Kahan, Frankie Chiu, Stephen T. Larson, S. Shahrukh Hashmi, Jacqueline T. Hecht, George T. Eisenhoffer
Journal: Disease Models & Mechanisms
Dis Model Mech (2023) 16 (6): dmm049868.
https://doi.org/10.1242/dmm.049868
Published: 2 June 2023
.... A quantitative approach to quickly assess morphological changes could address how genetic or environmental inputs lead to differences in facial shape and promote malformations. Here, we report on a method to rapidly analyze craniofacial development in zebrafish embryos using facial analytics based...
View articletitled, Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish
Open the PDF for Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish in another window
Includes: Supplementary data
Journal Articles

Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes

Open Access
In collection:
Developmental Disorders , Human Genetic Disease
Eva Lana-Elola, Heather Cater, Sheona Watson-Scales, Simon Greenaway, Jennifer Müller-Winkler, Dorota Gibbins, Mihaela Nemes, Amy Slender, Tertius Hough, Piia Keskivali-Bond, Cheryl L. Scudamore, Eleanor Herbert, Gareth T. Banks, Helene Mobbs, Tara Canonica, Justin Tosh, Suzanna Noy, Miriam Llorian, Patrick M. Nolan, Julian L. Griffin, Mark Good, Michelle Simon, Ann-Marie Mallon, Sara Wells, Elizabeth M. C. Fisher, Victor L. J. Tybulewicz
Journal: Disease Models & Mechanisms
Dis Model Mech (2021) 14 (10): dmm049157.
https://doi.org/10.1242/dmm.049157
Published: 18 October 2021
.... Editor's choice: Comprehensive phenotyping shows that Dp1Tyb mice, a model of Down syndrome (DS), have a broad range of DS-related phenotypes and can be used to investigate causative genes and their pathological mechanisms. Down syndrome Mouse model Craniofacial development Memory Sleep...
View articletitled, Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes
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Includes: Supplementary data
Journal Articles

Perturbed development of cranial neural crest cells in association with reduced sonic hedgehog signaling underlies the pathogenesis of retinoic-acid-induced cleft palate

Open Access
Qi Wang, Hiroshi Kurosaka, Masataka Kikuchi, Akihiro Nakaya, Paul A. Trainor, Takashi Yamashiro
Journal: Disease Models & Mechanisms
Dis Model Mech (2019) 12 (10): dmm040279.
https://doi.org/10.1242/dmm.040279
Published: 4 October 2019
... of CNCCs and the onset of their migration takes place, both of which are critical steps in craniofacial development (Trainor, 2005). Therefore, we hypothesized that excess RA signaling at E8.5 could negatively impact CNCC development. In this study, we obtained molecular and cellular evidence...
View articletitled, Perturbed development of cranial neural crest cells in association with reduced sonic hedgehog signaling underlies the pathogenesis of retinoic-acid-induced cleft palate
Open the PDF for Perturbed development of cranial neural crest cells in association with reduced sonic hedgehog signaling underlies the pathogenesis of retinoic-acid-induced cleft palate in another window
Includes: Supplementary data