Results 21 to 30 of about 3,948 (205)

Tissue-specific calibration of extracellular matrix material properties by transforming growth factor-beta and Runx2 in bone is required for hearing [PDF]

, 2010
Publisher version: http://www.nature.com/embor/journal/v11/n10/full/embor2010135.htmlDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA - ENG PT - JOURNAL ARTICLEDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA ...
Alexandra E Porter, Anil Lalwani, Carol G Chen, Currey JD, Delia S Brauer, Emily N Chin, Filvaroff E, Grayson W Marshall, Guive Balooch, Higashi K, Jacob Johnson, Jolie L Chang, Kristin Butcher, Lawrence Lustig, Mary Beth Humphrey, Omar Akil, Richard A Schneider, Rik Derynck, Robert O Ritchie, Sally J Marshall, Sorensen MS, Tamara Alliston   +21 more
core   +1 more source

Reconstruction Using Free Vascularized Fibular Grafts after Wide Resection of Humerus Chondrosarcoma in a Patient with Cleidocranial Dysplasia

Case Reports in Orthopedics, 2021
Cleidocranial dysplasia is characterized by hypoplasia of the clavicles, unerupted teeth, narrow pelvis, short stature, and craniofacial malformations. A cause of this skeletal dysplasia is heterozygous mutations of the runt-related transcription factor ...
Junya Shimizu, Kousuke Iba, Makoto Emori, Mikito Sasaki, Toshihiko Yamashita   +4 more
doaj   +1 more source

Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family [PDF]

, 2018
Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals ...
Barbato, E., Galluccio, G., Impellizzeri, A., LA MONACA, CAMILLA, Midulla, G., Romeo, U.   +5 more
core   +2 more sources

Anesthetic management during a cesarean section in a patient with cleidocranial dysplasia: a case report

JA Clinical Reports, 2018
Background Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures.
Yumiko Nishio, Teruyuki Hiraki, Hiroko Taniguchi, Kazuo Ushijima   +3 more
doaj   +1 more source

A 13-year-old caucasian boy with cleidocranial dysplasia: a case report [PDF]

, 2013
BACKGROUND: Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21.
Ioulia Ioannidou, Olga-Elpis Kolokitha
core   +2 more sources

Cleidocranial Dysplasia Affecting Three Generations in a Family: A Unique Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Cleidocranial Dysplasia (CCD) is a rare autosomal dominant syndrome that occurs in approximately 1 per million individuals worldwide. This syndrome is characterized by skeletal, orofacial, and dental manifestations like hypoplastic or ...
Vathsala Patil , Keerthilatha M. Pai , Yogesh Chhaparwal , Shubha Chhaparwal   +3 more
doaj  

Familial Cleidocranial Dysplasia

International Journal of Clinical Pediatric Dentistry, 2010
Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet.
Verma, Radhika, Jindal, MK, Maheshwari, Sandhya   +2 more
openaire   +2 more sources

Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model [PDF]

, 2018
BackgroundRunt-related transcription factor 2 (RUNX2) haploinsufficiency causes cleidocranial dysplasia (CCD) which is characterized by supernumerary teeth, short stature, clavicular dysplasia, and osteoporosis.
Azuma Toshifumi, Hasegawa Daigo, Hayashi Kamichika, Kato Hiroshi, Kosaki Kenjiro, Nakamura Takashi, Nakanishi Mahito, Nishimura Ken, Ohtaka Manami, Okudaira Takahito, Onda Takeshi, Onodera Shoko, Ooki Akio, Saito Akiko, Sakamoto Teruo, Sueishi Kenji, Watanabe Akira, Watanabe Katsuhito, Yamaguchi Akira, 西村 健   +19 more
core   +2 more sources

Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation [PDF]

, 2012
RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD) a skeletal disorder characterised by gross dysgenesis of bones particularly those ...
Doecke, James D., Fozzard, Nicolette, Jones, Graeme, Morrison, Nigel A., Nicholson, Geoff C., Osato, Motomi, Pasco, Julie, Polly, Patsie, Prince, Richard L., Ralston, Stuart H., Sambrook, Philip N., Stephens, Alexandre A., Tan, Timothy C., Yamashita, Namiko   +13 more
core   +3 more sources

Cleidocranial dysplasia: Report of 4 cases and review

Journal of Indian Academy of Oral Medicine and Radiology, 2008
Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth.
Virender Gombra, S Jayachandran
doaj   +1 more source