Browsing Harvard Medical School by Keyword "Birth Defects"

Now showing items 1-6 of 6

    • Embryonic Origin and Remodeling of the Urinary and Digestive Outlets 

      Wang, Cheng-yen; Wang, Jingying; Borer, Joseph G.; Li, Xue (Public Library of Science, 2013)
      Separating digestive and urinary outlets is a critical step during mammalian embryogenesis. However, the natural history of these structures is poorly studied, and little is known about their embryonic origin. Here, we ...

    • Essential Developmental, Genomic Stability, and Tumour Suppressor Functions of the Mouse Orthologue of hSSB1/NABP2 

      Shi, Wei; Bain, Amanda L.; Schwer, Bjoern; Al-Ejeh, Fares; Smith, Corey; Wong, Lee; Chai, Hua; Miranda, Mariska S.; Ho, Uda; Kawaguchi, Makoto; Miura, Yutaka; Finnie, John W.; Wall, Meaghan; Heierhorst, Jörg; Wicking, Carol; Spring, Kevin J.; Alt, Frederick W.; Khanna, Kum Kum (Public Library of Science, 2013)
      Single-stranded DNA binding proteins (SSBs) regulate multiple DNA transactions, including replication, transcription, and repair. We recently identified SSB1 as a novel protein critical for the initiation of ATM signaling ...

    • OTX2 Duplication Is Implicated in Hemifacial Microsomia 

      Zielinski, Dina; Markus, Barak; Sheikh, Mona; Gymrek, Melissa; Chu, Clement; Zaks, Marta; Srinivasan, Balaji; Hoffman, Jodi D.; Aizenbud, Dror; Erlich, Yaniv (Public Library of Science, 2014)
      Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five ...

    • p600 Plays Essential Roles in Fetal Development 

      Nakaya, Takeo; Ishiguro, Kei-ichiro; Belzil, Camille; Rietsch, Anna M.; Yu, Qunyan; Mizuno, Shin-ichi; Bronson, Roderick T.; Geng, Yan; Nguyen, Minh Dang; Akashi, Koichi; Sicinski, Piotr; Nakatani, Yoshihiro (Public Library of Science, 2013)
      p600 is a multifunctional protein implicated in cytoskeletal organization, integrin-mediated survival signaling, calcium-calmodulin signaling and the N-end rule pathway of ubiquitin-proteasome-mediated proteolysis. While ...

    • Perinatal Natural History of the Ts1Cje Mouse Model of Down Syndrome: Growth Restriction, Early Mortality, Heart Defects, and Delayed Development 

      Ferrés, Millie A.; Bianchi, Diana W.; Siegel, Ashley E.; Bronson, Roderick T.; Huggins, Gordon S.; Guedj, Faycal (Public Library of Science, 2016)
      Background: The Ts1Cje model of Down syndrome is of particular interest for perinatal studies because affected males are fertile. This permits affected pups to be carried in wild-type females, which is similar to human ...

    • Zika Fetal Neuropathogenesis: Etiology of a Viral Syndrome 

      Klase, Zachary A.; Khakhina, Svetlana; Schneider, Adriano De Bernardi; Callahan, Michael V.; Glasspool-Malone, Jill; Malone, Robert (Public Library of Science, 2016)
      The ongoing Zika virus epidemic in the Americas and the observed association with both fetal abnormalities (primary microcephaly) and adult autoimmune pathology (Guillain–Barré syndrome) has brought attention to this ...