Results 41 to 50 of about 6,417 (245)

Enamel renal syndrome: A rare case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012
Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky ...
S V Kala Vani, M Varsha, Y Uday Sankar
doaj   +1 more source

Phenotypic characterization of amelogenesis imperfecta-nephrocalcinosis syndrome: a review

Duazary, 2019
Amelogenesis Imperfecta (AI) is an alteration of the structure and appearance of dental enamel of genetic origin that can occur as an isolated or systemic defect.
Victor Simancas-Escorcia, Ariane Berdal, Antonio Díaz-Caballero   +2 more
doaj   +1 more source

Amelogenesis Imperfecta; Genes, Proteins, and Pathways [PDF]

Frontiers in Physiology, 2017
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics, causing patients problems such as early tooth loss, severe embarrassment, eating difficulties, and ...
Claire E. L. Smith, Claire E. L. Smith, James A. Poulter, Agne Antanaviciute, Jennifer Kirkham, Steven J. Brookes, Chris F. Inglehearn, Alan J. Mighell, Alan J. Mighell   +8 more
openaire   +5 more sources

Occurrence of epidermolysis bullosa along with Amelogenesis imperfecta in female patient of India

Dental Research Journal, 2013
Epidermolysis bullosa (EB) is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. Junctional variety of EB is also associated with enamel hypoplasia.
A P Javed, Prashanth Shenai, Laxmikanth Chatra, K M Veena, Prasanna Kumar Rao, Rachana Prabhu   +5 more
doaj   +1 more source

Cloning, characterization and immunolocalization of human ameloblastin [PDF]

, 2000
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/93555/1/j.1600-0722.2000.108004303.x ...
Berdal, Ariane, Forest, Nadine, Forsman‐semb, Kristina, Gu, Ting Ting, Krebsbach, Paul H., Kärrman Mårdh, Carina, MacDougall, Mary, Mesbah, Michael, Simmons, Darrin, Yamada, Yoishi   +9 more
core   +1 more source

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta [PDF]

, 2016
Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the intricate regulation of ion transport and controlled changes to the developing enamel matrix pH.
Adzhubei, Akihiro Harada, Alan J. Mighell, Barron, Brookes, Chihiro Mogi, Chris F. Inglehearn, Claire E.L. Smith, Clare V. Logan, Colin A. Johnson, Consortium, Czech, Damkier, David A. Parry, de Vallière, El-Sayed, Figen Seymen, Frick, Fumikazu Okajima, Garant, Gawenis, Halse, Hart, Honda, Hong Zhang, Hussain Jafri, James A. Poulter, James P. Simmer, Jan C.-C. Hu, Josephsen, Kim, Kim, Kim, Koichi Sato, Lacruz, Lagerström, Lathrop, Lu, Ludwig, Lyaruu, Mine Koruyucu, Mohebbi, Mushtaq Ahmed, Møinichen, Nakakura, O’Sullivan, Parry, Parry, Pereverzev, Poulter, Poulter, Poulter, Prasad, Rajpar, Robinson, Roger C. Shore, Sasaki, Sasaki, Sasaki, Simmer, Smith, Smith, Smith, Takagi, Tomura, Tomura, Walid El-Sayed, Wang, Yang, Yuen   +69 more
core   +2 more sources

Amelogenesis imperfecta: Hypoplastische Form

SWISS DENTAL JOURNAL SSO – Science and Clinical Topics, 2016
Amelogenesis imperfecta (AI) is a hereditary enamel development disorder that is not associated with an underlying systemic disease. The prevalence varies between 1:20,000 and 1:718 depending on the population.
Adrian Lussi, Simon Ramseyer
openaire   +2 more sources

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta [PDF]

, 2017
We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding Acid Phosphatase, Testicular, which segregate with hypoplastic Amelogenesis imperfecta (AI) in two unrelated families.
Alan J Mighell, B Backman, CE Smith, CEL Smith, Chris F Inglehearn, Claire EL Smith, DA Parry, F Seymen, Francesca Soldani, GA Van der Auwera, H Choi, H Fleisig, H Li, James A Poulter, Jennifer Kirkham, Laura LE Whitehouse, M Goldberg, NA Romas, Peter F Day, ST Sherry, Steven J Brookes   +20 more
core   +1 more source

The Importance of Serine Phosphorylation of Ameloblastin on Enamel Formation [PDF]

, 2016
FAM20C is a newly identified kinase on the secretory pathway responsible for the phosphorylation of serine residues in the Ser-x-Glu/pSer motifs in several enamel matrix proteins. Fam20C-knockout mice showed severe enamel defects very similar to those in
Brookes, SJ, He, J, Ma, P, Tian, Y, Wang, X, Yan, W   +5 more
core   +1 more source

Sequelae in Permanent Dentition After Traumatic Dental Injury in the Primary Dentition—A Retrospective Cohort Study

International Journal of Paediatric Dentistry, EarlyView.
ABSTRACT Background Luxation injuries to the predecessors can cause sequelae in the permanent successors. Aim To describe and analyze sequelae in permanent successors according to the child's age at the time of different luxation traumas (concussion, subluxation, extrusion, lateral luxation, intrusion and avulsion) in the primary dentition compared ...
Anne‐Marie Folmer, Eva Lauridsen, Josephine Solgaard Henriksen, Nuno Vibe Hermann   +3 more
wiley   +1 more source