Results 41 to 50 of about 15,328 (193)

Conditional Knockout of Raptor/mTORC1 Results in Dentin Malformation

open access: yesFrontiers in Physiology, 2019
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]

open access: yes, 2018
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

open access: yesПедиатрическая фармакология, 2015
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

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
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

open access: yes, 2018
Examination protocol Prevalence study of dentinogenesis imperfecta (DGI).
K. Andersson (5677367)   +3 more
core   +1 more source

Laporan Kasus: Dentinogenesis Imperfekta [PDF]

open access: yes, 2019
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

open access: yesCell Proliferation, Volume 59, Issue 8, August 2026.
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

DS_10.1177_0022034519854029 – Supplemental material for Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta

open access: yes, 2019
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

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
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

Severe Postpartum Hemorrhage After Vaginal Delivery in an Osteogenesis Imperfecta Type I Patient: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
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

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