Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases [PDF]
, 2016 published_or_final_versio
Qiao, W +4 more
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Dental Research Journal, 2014 Dentin dysplasia is an exceptionally rare, autosomal-dominant, hereditary condition, primarily characterized by defective dentin formation affecting both the deciduous and permanent dentitions.
Sowmya Nettem +3 more
doaj +1 more source
Dental Manifestations and Oral Management of X-Linked Hypophosphatemia
Endocrines, 2022 X-linked hypophosphatemia (XLH) is the most common genetic form of rickets and osteomalacia and is characterized by growth retardation, deformities of the lower limbs, and bone and muscular pain.
Rena Okawa, Kazuhiko Nakano
doaj +1 more source
Mouse Dspp frameshift model of human dentinogenesis imperfecta
Scientific Reports, 2021 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 shift ...
Tian Liang +11 more
doaj +1 more source
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations [PDF]
, 2015 Background: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular
A Linde +61 more
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Dentin dysplasia type I: a challenge for treatment with dental implants
Head & Face Medicine, 2007 Background Dentin dysplasia type I is characterized by a defect of dentin development with clinical normal appearance of the permanent teeth but no or only rudimentary root formation.
Meyer Ulrich +5 more
doaj +1 more source
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families [PDF]
, 2011 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90129/1/EOS_874_sm_FigS1-9.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/90129/2/j.1600-0722.2011.00874.x ...
Bai +51 more
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Dentinal Dysplasia Type I: A Case Report with a 6-Year Followup
Case Reports in Dentistry, 2013 Introduction. Dentin dysplasia is a rare disturbance of dentin formation characterized by normal enamel but atypical dentin formation with abnormal pulpal morphology that is inherited as an autosomal pulpal morphology. Case Presentation.
Sezin Ozer +3 more
doaj +1 more source
The relationship between pulp calcifications and salivary gland calcifications [PDF]
, 2014 Aim: Pulp stones are discrete calcified bodies found in the dental pulp. Sialolithasis is the most common salivary gland disease. The aim of the present study was to determine the relationship between the pulp stones and salivary gland stones.
Farzan, Rahman +4 more
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Spontaneous Development of Dental Dysplasia in Aged Parp-1 Knockout Mice
Cells, 2019 Poly(ADP-ribose) polymerase (Parp)-1 catalyzes polyADP-ribosylation using NAD+ and is involved in the DNA damage response, genome stability, and transcription.
Hisako Fujihara +6 more
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