Zobrazeno 1 - 10
of 197
pro vyhledávání: '"Joan T Richtsmeier"'
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
Autor:
Yasuhiro Kazuki, Feng J Gao, Yicong Li, Anna J Moyer, Benjamin Devenney, Kei Hiramatsu, Sachiko Miyagawa-Tomita, Satoshi Abe, Kanako Kazuki, Naoyo Kajitani, Narumi Uno, Shoko Takehara, Masato Takiguchi, Miho Yamakawa, Atsushi Hasegawa, Ritsuko Shimizu, Satoko Matsukura, Naohiro Noda, Narumi Ogonuki, Kimiko Inoue, Shogo Matoba, Atsuo Ogura, Liliana D Florea, Alena Savonenko, Meifang Xiao, Dan Wu, Denise AS Batista, Junhua Yang, Zhaozhu Qiu, Nandini Singh, Joan T Richtsmeier, Takashi Takeuchi, Mitsuo Oshimura, Roger H Reeves
Publikováno v:
eLife, Vol 9 (2020)
Animal models of Down syndrome (DS), trisomic for human chromosome 21 (HSA21) genes or orthologs, provide insights into better understanding and treatment options. The only existing transchromosomic (Tc) mouse DS model, Tc1, carries a HSA21 with over
Externí odkaz:
https://doaj.org/article/902bee1fcc954ec09607d3e505b90a1b
Autor:
Karen L Baab, Peter Brown, Dean Falk, Joan T Richtsmeier, Charles F Hildebolt, Kirk Smith, William Jungers
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0155731 (2016)
The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004. These remains have been assigned to a new species, Homo floresiensis, with the partial ske
Externí odkaz:
https://doaj.org/article/fe1070f64d784b20b414c0c51f5a1361
Autor:
Neus Martínez-Abadías, Yann Heuzé, Yingli Wang, Ethylin Wang Jabs, Kristina Aldridge, Joan T Richtsmeier
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e26425 (2011)
The fibroblast growth factor and receptor system (FGF/FGFR) mediates cell communication and pattern formation in many tissue types (e.g., osseous, nervous, vascular). In those craniosynostosis syndromes caused by FGFR1-3 mutations, alteration of sign
Externí odkaz:
https://doaj.org/article/4075cc7db2fe45f182fea916e9717412
Autor:
Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai, John Erol Evangelista, Giacomo B. Marino, Avi Ma’ayan, Anshuman Sewda, Greg Holmes, Sierra R. Britton, Won Jun Lee, Meng Wu, Ying Ru, Eric Arnaud, Lorenzo Botto, Lawrence C. Brody, Jo C. Byren, Michele Caggana, Suzan L. Carmichael, Deirdre Cilliers, Kristin Conway, Karen Crawford, Araceli Cuellar, Federico Di Rocco, Michael Engel, Jeffrey Fearon, Marcia L. Feldkamp, Richard Finnell, Sarah Fisher, Christian Freudlsperger, Gemma Garcia-Fructuoso, Rhinda Hagge, Yann Heuzé, Raymond J. Harshbarger, Charlotte Hobbs, Meredith Howley, Mary M. Jenkins, David Johnson, Cristina M. Justice, Alex Kane, Denise Kay, Arun Kumar Gosain, Peter Langlois, Laurence Legal-Mallet, Angela E. Lin, James L. Mills, Jenny E.V. Morton, Peter Noons, Andrew Olshan, John Persing, Julie M. Phipps, Richard Redett, Jennita Reefhuis, Elias Rizk, Thomas D. Samson, Gary M. Shaw, Robert Sicko, Nataliya Smith, David Staffenberg, Joan Stoler, Elizabeth Sweeney, Peter J. Taub, Andrew T. Timberlake, Jolanta Topczewska, Steven A. Wall, Alexander F. Wilson, Louise C. Wilson, Simeon A. Boyadjiev, Andrew O.M. Wilkie, Joan T. Richtsmeier, Ethylin Wang Jabs, Paul A. Romitti, David Karasik, Ramon Y. Birnbaum, Inga Peter
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101851- (2024)
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study o
Externí odkaz:
https://doaj.org/article/7b6e059bb8a041158140daf3599c8d99
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
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
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
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
Autor:
Nandini Singh, Tara Dutka, Benjamin M. Devenney, Kazuhiko Kawasaki, Roger H. Reeves, Joan T. Richtsmeier
Publikováno v:
Disease Models & Mechanisms, Vol 8, Iss 3, Pp 271-279 (2015)
Hedgehog (HH) signaling, and particularly signaling by sonic hedgehog (SHH), is implicated in several essential activities during morphogenesis, and its misexpression causes a number of developmental disorders in humans. In particular, a reduced mito
Externí odkaz:
https://doaj.org/article/7b5f37a224e0476aae617115a346932a