Results 41 to 50 of about 15,328 (193)
Conditional Knockout of Raptor/mTORC1 Results in Dentin Malformation
mTORC1 signaling plays an important role in extracellular and intracellular signals, including growth factors, nutrients, energy metabolism, and stress. However, the functional role of mTORC1 in dentinogenesis is unknown.
Furong Xie +11 more
doaj +1 more source
Dentinogenesis imperfecta [PDF]
Zusammenfassung: Unter Dentinogenesis imperfecta versteht man eine kongenitale Dysplasie des Dentins, die isoliert oder im Zusammenhang mit einer hereditären Allgemeinerkrankung wie der Osteogenesis imperfecta auftreten kann.
van Waes, H., Schulte, J.M.
core
CLINICAL CASE OF RARE TYPE V OSTEOGENESIS IMPERFECTA
Osteogenesis imperfecta, also known as the brittle bone disease, is a clinically heterogenic hereditary connective tissue disease characterized by brittle bones and high risk of skeletal bone fractures.
G. T. Yakhyayeva +8 more
doaj +1 more source
Analysis of Genetic Factors in a Family With Short Stature
We identified pathogenic variants of two different genes, COL1A2 and GH1, in a family with short stature through trio‐WES, thereby providing a clear genetic diagnosis for this family. ABSTRACT Background To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals.
Siqing Zhang +4 more
wiley +1 more source
Additional file 1: of Dentinogenesis imperfecta type II in Swedish children and adolescents
Examination protocol Prevalence study of dentinogenesis imperfecta (DGI).
K. Andersson (5677367) +3 more
core +1 more source
Laporan Kasus: Dentinogenesis Imperfekta [PDF]
Dentinogenesis imperfecta is the one of most common hereditary disorder of dentin formation, especially at histodifferentiation stage. It reported have to an incidences of 1 in 8000.
Abdurokhman, Evellyn Islami +3 more
core +1 more source
Single‐Cell Virtual Perturbation Screening Identifies STAT3 as a Key Regulator of Dentinogenesis
STAT3 promotes odontoblast differentiation in dental mesenchymal cells by transcriptionally regulating WNT2B via the canonical Wnt/β‐catenin signalling pathway. These findings elucidate a mechanism underlying dentine development. ABSTRACT Dentine formation constitutes a physiological process precisely regulated by signal transduction modules governing ...
Yanfei Zhu +12 more
wiley +1 more source
Supplemental material, DS_10.1177_0022034519854029 for Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta by T. Liang, H. Zhang, Q. Xu, S. Wang, C. Qin and Y.
T. Liang (6814781) +5 more
core +1 more source
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal +4 more
wiley +1 more source
ABSTRACT Pregnant patients with osteogenesis imperfecta type I are at increased risk of obstetric and hemorrhagic complications. Early multidisciplinary planning and anesthesiology involvement are essential. Severe postpartum hemorrhage may result from uterine atony and tissue fragility, requiring prompt uterotonic therapy, surgical intervention, blood
Madeline Dow +2 more
wiley +1 more source

