Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Ernst J Reichenberger"'
Autor:
Yasuyuki Fujii, Nelson Monteiro, Shyam Kishor Sah, Homan Javaheri, Yasuyoshi Ueki, Zhichao Fan, Ernst J Reichenberger, I‐Ping Chen
Publikováno v:
JBMR Plus, Vol 6, Iss 1, Pp n/a-n/a (2022)
ABSTRACT Cherubism (CBM), characterized by expansile jawbones with multilocular fibrocystic lesions, is caused by gain‐of‐function mutations in SH3 domain‐binding protein 2 (SH3BP2; mouse orthologue Sh3bp2). Loss of jawbone and dental integrity
Externí odkaz:
https://doaj.org/article/36c190f01b5847c3a70471bd90e25f20
Autor:
Mizuho Kittaka, Tetsuya Yoshimoto, Collin Schlosser, Mikihito Kajiya, Hidemi Kurihara, Ernst J Reichenberger, Yasuyoshi Ueki
Publikováno v:
JBMR Plus, Vol 4, Iss 6, Pp n/a-n/a (2020)
ABSTRACT Cherubism (OMIM#118400) is a craniofacial disorder characterized by destructive jaw expansion. Gain‐of‐function mutations in SH3‐domain binding protein 2 (SH3BP2) are responsible for this rare disorder. We have previously shown that ho
Externí odkaz:
https://doaj.org/article/771a4998294a42b7801c0c626ba58eb0
Autor:
Ying Hu, I-Ping Chen, Salome de Almeida, Valdenize Tiziani, Cassio M Raposo Do Amaral, Kalpana Gowrishankar, Maria Rita Passos-Bueno, Ernst J Reichenberger
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e73576 (2013)
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter A
Externí odkaz:
https://doaj.org/article/4f27aa04aef4405fbc54b78b9d91d498
Autor:
Kavya Shankar Muttanahally, I-Ping Chen, Ernst J. Reichenberger, Aditya Tadinada, Anusha Vaddi
Publikováno v:
Journal of Rare Diseases. 2
Purpose Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder that has progressive thickening and increased density of the craniofacial bones along with abnormal metaphyses of the long bones. Other features include a wide nasal bridge, parana
Publikováno v:
iPSC Derived Progenitors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1dff2ef34880ea3f635a55ccf926cd21
https://doi.org/10.1016/b978-0-323-85545-7.00008-9
https://doi.org/10.1016/b978-0-323-85545-7.00008-9
Autor:
Noor Hayaty Abu Kasim, Said M. Afify, Pranay Agarwal, Nidhi Bhutani, Michela Bruschi, I-Ping Chen, Lyndah Chow, Robert A. Colbert, Shankhajit De, Steven Dow, Saritha S. D'Souza, Andreas Faissner, Jeremy Fischer, Nazmul Haque, Ghmkin Hassan, James H. Hui, Fuyuki F. Inagaki, Natsuko F. Inagaki, Akhilesh Kumar, Mavis Loberas, Yongquan Luo, Alison Manchester, Nicholas J. Maragakis, Elly Munadziroh, Fatemeh Navid, Ryuichi Nishinakamura, Ernst J. Reichenberger, Lars Roll, Shyam Kishor Sah, Akimasa Seno, Masaharu Seno, Igor Slukvin, Pratiwi Soesilawati, Akshaya Srinivasan, Arens Taga, Yi-Chin Toh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::221f2c283a7f444241f3ae465d67387a
https://doi.org/10.1016/b978-0-323-85545-7.01002-4
https://doi.org/10.1016/b978-0-323-85545-7.01002-4
Autor:
Ernst J Reichenberger, I-Ping Chen, András Váradi, Eszter Kozák, Yasuyuki Fujii, Eliane H Dutra
Publikováno v:
J Bone Miner Res
Craniometaphyseal dysplasia (CMD), a rare genetic bone disorder, is characterized by lifelong progressive thickening of craniofacial bones and metaphyseal flaring of long bones. The autosomal dominant form of CMD is caused by mutations in the progres
Autor:
Shyam Kishor Sah, Shyama Jain, Ernst J Reichenberger, Khushboo Singh, Anju Garg, Seema Kapoor, Sunita Gupta, Nirupama Trehanpati, P.S. Bhandari
Publikováno v:
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 128:e191-e201
Cherubism is a rare autosomal dominant disorder characterized by replacement of bone with fibrous tissue containing multinucleated giant cells. It manifests as bilateral mandibular and/or maxillary enlargement. The 2017 World Health Organization clas
Autor:
Zhichao Fan, Homan Javaheri, Shyam Kishor Sah, Yasuyuki Fujii, I-Ping Chen, Yasuyoshi Ueki, Nelson Monteiro, Ernst J Reichenberger
Publikováno v:
JBMR Plus
JBMR Plus, Vol 6, Iss 1, Pp n/a-n/a (2022)
JBMR Plus, Vol 6, Iss 1, Pp n/a-n/a (2022)
Cherubism (CBM), characterized by expansile jawbones with multilocular fibrocystic lesions, is caused by gain‐of‐function mutations in SH3 domain‐binding protein 2 (SH3BP2; mouse orthologue Sh3bp2). Loss of jawbone and dental integrity signific
Publikováno v:
Cell Reprogram
Differentiation of keratinocytes from human embryonic stem cells (hESCs) and human induced pluripotent stem cells (hiPSCs) has become an important tool for wound healing research and for studying skin diseases in instances where patient cells are not