Zobrazeno 1 - 10
of 2 284
pro vyhledávání: '"C C, HU"'
Autor:
Tian Liang, Charles E. Smith, Yuanyuan Hu, Hong Zhang, Chuhua Zhang, Qian Xu, Yongbo Lu, Ling Qi, Jan C.-C. Hu, James P. Simmer
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-18 (2023)
Abstract Dentin sialophosphoprotein (DSPP) is primarily expressed by differentiated odontoblasts (dentin-forming cells), and transiently expressed by presecretory ameloblasts (enamel-forming cells). Disease-causing DSPP mutations predominantly fall i
Externí odkaz:
https://doaj.org/article/55ab9e745bdb4551b1c1f56ebfdaf75c
Autor:
Tian Liang, Shih-Kai Wang, Charles Smith, Hong Zhang, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Chuhua Zhang, Thomas L. Saunders, James P. Simmer, Jan C.-C. Hu
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-20 (2022)
Abstract Human ACP4 (OMIM*606362) encodes a transmembrane protein that belongs to histidine acid phosphatase (ACP) family. Recessive mutations in ACP4 cause non-syndromic hypoplastic amelogenesis imperfecta (AI1J, OMIM#617297). While ACP activity has
Externí odkaz:
https://doaj.org/article/b1ed9c32d099421cbc3e834f910de5b2
Autor:
Tian Liang, Yuanyuan Hu, Hong Zhang, Qian Xu, Charles E. Smith, Chuhua Zhang, Jung-Wook Kim, Shih-Kai Wang, Thomas L. Saunders, Yongbo Lu, Jan C.-C. Hu, James P. Simmer
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (DSPP): 5′ mutations affecting an N-terminal targeting sequence and 3′ mutations that
Externí odkaz:
https://doaj.org/article/8cc6c2e7bcd84aac8371c3b57be3059c
Autor:
Mengqi Zhou, Hong Zhang, Heather Camhi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Hera Kim-Berman, Ninna M. R. Yuson, Paul J. Benke, Yiqun Wu, Feng Wang, Yaqin Zhu, James P. Simmer, Jan C-C. Hu
Publikováno v:
International Journal of Oral Science, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis. Many genes have been implicated in the etiology of tooth agenesis, which is highly variable in its clinical presentation. The p
Externí odkaz:
https://doaj.org/article/b4fae4e706cc42399f6b5e82f45aca92
Autor:
John D. Bartlett, Charles E. Smith, Yuanyuan Hu, Atsushi Ikeda, Mike Strauss, Tian Liang, Ya-Hsiang Hsu, Amanda H. Trout, David W. McComb, Rebecca C. Freeman, James P. Simmer, Jan C.-C. Hu
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)
Abstract Dental enamel forms extracellularly as thin ribbons of amorphous calcium phosphate (ACP) that initiate on dentin mineral in close proximity to the ameloblast distal membrane. Secreted proteins are critical for this process. Enam −/− and
Externí odkaz:
https://doaj.org/article/373d5cee0dcd4f0582e0f4f3a8212285
Autor:
Tian Liang, Yuanyuan Hu, Kazuhiko Kawasaki, Hong Zhang, Chuhua Zhang, Thomas L. Saunders, James P. Simmer, Jan C.-C. Hu
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Mutations of Odontogenesis-Associated Phosphoprotein (ODAPH, OMIM *614829) cause autosomal recessive amelogenesis imperfecta, however, the function of ODAPH during amelogenesis is unknown. Here we characterized normal Odaph expression by in
Externí odkaz:
https://doaj.org/article/f825654de1574935abc8ae63c714cbe8
Autor:
Shih‐Kai Wang, Hong Zhang, Michael B. Chavez, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Connor D. Colvin, Tamara N. Kolli, Michelle H. Tan, Yin‐Lin Wang, Pei‐Ying Lu, Jung‐Wook Kim, Brian L. Foster, John D. Bartlett, James P. Simmer, Jan C.‐C. Hu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Matrix metallopeptidase 20 (MMP20) is an evolutionarily conserved protease that is essential for processing enamel matrix proteins during dental enamel formation. MMP20 mutations cause human autosomal recessive pigmented hypomatur
Externí odkaz:
https://doaj.org/article/89d3f87d0001415bb348c887bd7e7fc1
Autor:
Mengqi Zhou, Hong Zhang, Heather Camhi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Hera Kim-Berman, Ninna M. R. Yuson, Paul J. Benke, Yiqun Wu, Feng Wang, Yaqin Zhu, James P. Simmer, Jan C-C. Hu
Publikováno v:
International Journal of Oral Science, Vol 13, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/69aca93b9fdf4733af20c92ca8e7c19f
Autor:
Hong Zhang, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Shih‐Kai Wang, John Timothy Wright, Michael W. Havel, Chuhua Zhang, Jung‐Wook Kim, James P. Simmer, Jan C.‐C. Hu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective. Methods Whole exome sequences o
Externí odkaz:
https://doaj.org/article/7b61b9235588451f9c86615f3eaad46c
Autor:
Tian Liang, Yuanyuan Hu, Charles E. Smith, Amelia S Richardson, Hong Zhang, Jie Yang, Brent Lin, Shih‐Kai Wang, Jung‐Wook Kim, Yong‐Hee Chun, James P. Simmer, Jan C.‐C. Hu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Ameloblastin (AMBN) is a secreted matrix protein that is critical for the formation of dental enamel and is enamel‐specific with respect to its essential functions. Biallelic AMBN defects cause non‐syndromic autosomal recessiv
Externí odkaz:
https://doaj.org/article/90502c4fc4e94899b48b326a4e03bb28