نتایج جستجو برای: enam

تعداد نتایج: 1243  

Journal: :Human molecular genetics 2005
Hiroshi Masuya Kunihiko Shimizu Hideki Sezutsu Yoshiyuki Sakuraba Junko Nagano Aya Shimizu Naomi Fujimoto Akiko Kawai Ikuo Miura Hideki Kaneda Kimio Kobayashi Junko Ishijima Takahide Maeda Yoichi Gondo Tetsuo Noda Shigeharu Wakana Toshihiko Shiroishi

Amelogenesis imperfecta (AI) is a group of commonly inherited defects of dental enamel formation, which exhibits marked genetic and clinical heterogeneity. The genetic basis of this heterogeneity is still poorly understood. Enamelin, the affected gene product in one form of AI (AIH2), is an extracellular matrix protein that is one of the components of enamel. We isolated three ENU-induced domin...

Journal: :Cells, tissues, organs 2009
Petros Papagerakis Yuanyuan Hu Ling Ye Jerry Q Feng James P Simmer Jan C-C Hu

Enamel development requires the strictly regulated spatiotemporal expression of genes encoding enamel matrix proteins. The mechanisms orchestrating the initiation and termination of gene transcription at each specific stage of amelogenesis are unknown. In this study, we identify cis- regulatory regions necessary for normal enamelin (Enam) expression. Sequence analysis of the Enam promoter 5'-no...

2012
Thomas Liam Coxon Alan Henry Brook Martin John Barron Richard Nigel Smith

Mutations in human and in mouse orthologous genes Amelx and Enam result in a diverse range of enamel defects. In this study we aimed to investigate the phenotype-genotype correlation between the mutants and the wild-type controls in mouse models of amelogenesis imperfecta using novel measurement approaches. Ten hemi-mandibles and incisors were dissected from each group of Amelx(WT), Amelx(X/Y64...

Journal: :Molecular biology and evolution 2010
Nawfal Al-Hashimi Anne-Gaelle Lafont Sidney Delgado Kazuhiko Kawasaki Jean-Yves Sire

Enamelin (ENAM) has been shown to be a crucial protein for enamel formation and mineralization. Previous molecular analyses have indicated a probable origin early in vertebrate evolution, which is supported by the presence of enamel/enameloid tissues in early vertebrates. In contrast to these hypotheses, ENAM was only characterized in mammals. Our aims were to 1) look for ENAM in representative...

2017
Wen-Juan Yan Pan Ma Ye Tian Jing-Ya Wang Chun-Lin Qin Jian Q Feng Xiao-Fang Wang

Enamelin (ENAM) has three putative phosphoserines (pSers) phosphorylated by a Golgi-associated secretory pathway kinase (FAM20C) based on their distinctive Ser-x-Glu (S-x-E) motifs. Fam20C-knockout mice show severe enamel defects similar to those in the Enam-knockout mice, implying an important role of the pSers in ENAM. To determine the role of pSer55 in ENAM, we characterized ENAMRgsc514 mice...

2015
Xin Wang Yuming Zhao Yuan Yang Man Qin

Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junction...

2013
Albert H.-L. Chan Rangsiyakorn Lertlam James P. Simmer Chia-Ning Wang Jan C. C. Hu

The Enam null mice appear to be smaller than wild-type mice, which prompted the hypothesis that enamel defects negatively influence nutritional intake and bodyweight gain (BWG). We compared the BWG of Enam(-/-) and wild-type mice from birth (D0) to Day 42 (D42). Wild-type (WT) and Enam(-/-) (N) mice were given either hard chow (HC) or soft chow (SC). Four experimental groups were studied: WTHC,...

Journal: :European journal of orthodontics 2011
Alenka Pavlic Tadej Battelino Katarina Trebusak Podkrajsek Maja Ovsenik

The aims of the study were to identify craniofacial characteristics in patients with the rough hypoplastic amelogenesis imperfecta (AI) phenotype and to evaluate whether craniofacial variables are related to a mutation in either of the two genes associated with AI, enamelin (ENAM) and amelogenin (AMGX). Eight children (five males and three females) with rough hypoplastic AI phenotype, aged 6.5-...

2003
Y. Yamakoshi

Dental enamel forms as a progressively thickening extracellular layer by the action of proteins secreted by ameloblasts. The most abundant enamel protein is amelogenin, which is expressed primarily from a gene on the X-chromosome (AMELX). The two most abundant non-amelogenin enamel proteins are ameloblastin and enamelin, which are expressed from the AMBN and ENAM genes, respectively. The human ...

Journal: :Journal of medical genetics 2003
T C Hart P S Hart M C Gorry M D Michalec O H Ryu C Uygur D Ozdemir S Firatli G Aren E Firatli

The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. To evaluate five candidate genes for an aetiological role in AI. In this study 20 consanguineous families with AI were identified in whom probands suggested autosomal recessive transmission. Family members were genotyped for genetic markers spanning five candidate genes: AMBN and ENAM (4q13....

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید