Výsledky vyhledávání - "Susan M, Motch Perrine"

Akademický článek

Single-cell analysis identifies a key role for Hhip in murine coronal suture development

Autor: Greg Holmes, Ana S. Gonzalez-Reiche, Madrikha Saturne, Susan M. Motch Perrine, Xianxiao Zhou, Ana C. Borges, Bhavana Shewale, Joan T. Richtsmeier, Bin Zhang, Harm van Bakel, Ethylin Wang Jabs

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

Craniofacial development depends on formation and maintenance of sutures between bones of the skull. Here the authors identify enriched expression of the hedgehog inhibitor Hhip, specifically in the mesenchyme of the murine coronal suture, and show s

Externí odkaz: https://doaj.org/article/649a242b1e9a48f29e116da6cc94df1a

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Akademický článek

A dysmorphic mouse model reveals developmental interactions of chondrocranium and dermatocranium

Autor: Susan M Motch Perrine, M Kathleen Pitirri, Emily L Durham, Mizuho Kawasaki, Hao Zheng, Danny Z Chen, Kazuhiko Kawasaki, Joan T Richtsmeier

Publikováno v: eLife, Vol 11 (2022)

The cranial endo and dermal skeletons, which comprise the vertebrate skull, evolved independently over 470 million years ago and form separately during embryogenesis. In mammals, much of the cartilaginous chondrocranium is transient, undergoing endoc

Externí odkaz: https://doaj.org/article/06e8edb056c64da1949281a466cadacd

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Akademický článek

Meckel’s Cartilage in Mandibular Development and Dysmorphogenesis

Autor: M. Kathleen Pitirri, Emily L. Durham, Natalie A. Romano, Jacob I. Santos, Abigail P. Coupe, Hao Zheng, Danny Z. Chen, Kazuhiko Kawasaki, Ethylin Wang Jabs, Joan T. Richtsmeier, Meng Wu, Susan M. Motch Perrine

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

The Fgfr2cC342Y/+ Crouzon syndrome mouse model carries a cysteine to tyrosine substitution at amino acid position 342 (Cys342Tyr; C342Y) in the fibroblast growth factor receptor 2 (Fgfr2) gene equivalent to a FGFR2 mutation commonly associated with C

Externí odkaz: https://doaj.org/article/0837681572d84edcb66a1764254c7951

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Akademický článek

Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice

Autor: Susan M. Motch Perrine, Meng Wu, Nicholas B. Stephens, Divya Kriti, Harm van Bakel, Ethylin Wang Jabs, Joan T. Richtsmeier

Publikováno v: Disease Models & Mechanisms, Vol 12, Iss 5 (2019)

One diagnostic feature of craniosynostosis syndromes is mandibular dysgenesis. Using three mouse models of Apert, Crouzon and Pfeiffer craniosynostosis syndromes, we investigated how embryonic development of the mandible is affected by fibroblast gro

Externí odkaz: https://doaj.org/article/3d3c34ebdff4459f840566aeb91afc02

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Akademický článek

Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex

Autor: Susan M. Motch Perrine, Meng Wu, Greg Holmes, Bryan C. Bjork, Ethylin Wang Jabs, Joan T. Richtsmeier

Publikováno v: Journal of Developmental Biology, Vol 8, Iss 4, p 30 (2020)

The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental event

Externí odkaz: https://doaj.org/article/4ae91ca537a148c1ab2b2ba30532a896

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Akademický článek

Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes

Autor: Susan M. Motch Perrine, Tim Stecko, Thomas Neuberger, Ethylin W. Jabs, Timothy M. Ryan, Joan T. Richtsmeier

Publikováno v: Frontiers in Human Neuroscience, Vol 11 (2017)

The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept develop

Externí odkaz: https://doaj.org/article/5fbd60253ea04931aec0a5e2933fd03b

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