Last update 01 Nov 2024

Amelogenesis Imperfecta

Last update 01 Nov 2024

Basic Info

Synonyms

AI - Amelogenesis imperfecta, Amelogenesis Imperfecta, Amelogenesis imperfecta

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Introduction

A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.

Clinical Trials associated with Amelogenesis Imperfecta

NCT06293482 / RecruitingNot Applicable

A Pivotal, Prospective, Open-label, Multi-center Study of Safety and Effectiveness of Cochlear Implantation in an Expanded Population of Adults with Bilateral Sensorineural Hearing Loss

This study aims to evaluate the safety and efficacy of cochlear implantation for adults with bilateral sensorineural hearing loss who currently do not meet the FDA-approved indications for cochlear implantation. Following cochlear implantation, participants will complete speech perception assessments and questionnaires over the course of seven visits.

Start Date17 Sep 2024

Sponsor / Collaborator

Cochlear Ltd.

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JPRN-UMIN000052993 / SuspendedIIT

Evaluation of listening performance in quiet and noisy conditions in unilateral cochlear implant users - Evaluation of listening performance in unilateral cochlear implant users

Start Date01 Apr 2024

Sponsor / Collaborator

Nagoya University

JPRN-UMIN000053198 / SuspendedIIT

The Research on Cochlear Microphonic monitoring during EAS and Cochlear Implant Surgery using OTOPLAN System - The Cochlear Microphonic monitoring using OTOPLAN System

Start Date09 Jan 2024

Sponsor / Collaborator-

100 Clinical Results associated with Amelogenesis Imperfecta

100 Translational Medicine associated with Amelogenesis Imperfecta

0 Patents (Medical) associated with Amelogenesis Imperfecta

1,911

Literatures (Medical) associated with Amelogenesis Imperfecta

01 Jan 2025·Journal of Affective Disorders

CUMS induces depressive-like behaviors and cognition impairment by activating the ERS-NLRP3 signaling pathway in mice

Article

Author: Song, Jinggui ; Liu, Huanhuan ; Zhang, Zhaohui ; Lu, Xinxin ; Gao, Xiaolei ; Zhang, Fuping ; Lu, Qi ; Pei, Yanjiao ; Lang, Jiqing ; Hao, Ran ; Zhao, Tong

BACKGROUND AND OBJECTIVEEndoplasmic reticulum stress (ERS), as a primary defense mechanism against stress, is closely related to mental disorders, but its pathogenesis is still unclear. This research seeks to explore the influence of ERS-nucleotide-bound oligomerized domain-like receptor protein 3 (NLRP3) signaling on mice's depressive-like behaviors and cognitive impairment.DESIGN AND METHODWe carried out a study on 32 male C57BL/6J mice to investigate how chronic unpredictable mild stress (CUMS) can give rise to depressive-like behaviors and cognitive dysfunction, randomly dividing them into control, model, inhibitor, and agonist groups. We utilized ELISA to quantify dopamine (DA) and 5-hydroxytryptamine (5-HT) levels. Using Nissl and hematoxylin and eosin (H&E) staining, we assessed the number and morphology of hippocampal neurons and cells. Western blot and immunofluorescence staining detected the changes in ERS and inflammation-related pathways in the hippocampus.RESULTSCUMS could induce ERS and activate NLRP3 inflammasome, causing neuronal damage and histopathological changes, eventually leading to depressive-like behaviors and cognitive impairment in mice. The abnormal activation of NLRP3 inflammasome could be restored by ERS blocker 4-phenyl butyric acid (PBA), thus reducing neuronal damage, and ameliorating depressive-like behaviors and cognitive disorder in mice.CONCLUSIONOur study demonstrates a previously unknown link between ERS and NLRP3 inflammasome in CUMS mice. The ERS-NLRP3 signaling pathway may be activated by CUMS, potentially resulting in mice exhibiting depressive-like behaviors and cognitive dysfunction. Theoretical foundations for elucidating the pathogenesis of depression, as well as its prevention and treatment, will be established through the results.

31 Dec 2024·Annals of Medicine

Integrating cellular experiments, single-cell sequencing, and machine learning to identify endoplasmic reticulum stress biomarkers in idiopathic pulmonary fibrosis

Article

Author: Zuo, Qiunan ; Chen, Lijuan ; Yang, Yan ; Liao, Yi ; Peng, Xiaying ; Yang, Yang ; Li, Hongyan ; Zou, Jun ; Guo, Shujin ; Zhou, Guanghong ; Chen, Xianxia

BACKGROUNDIdiopathic Pulmonary Fibrosis (IPF) presents a severe respiratory challenge with a poor prognosis due to the lack of reliable biomarkers. Recent evidence suggests that Endoplasmic Reticulum Stress (ERS) may be associated with IPF pathogenesis. This study focuses on uncovering ERS-associated biomarkers for IPF.METHODSSequencing data from diverse datasets were analyzed, utilizing differential gene expression analysis and Weighted Gene Co-expression Network Analysis (WGCNA). Endoplasmic Reticulum Stress (ERS)-related genes were extracted from the GeneCards database. Hub genes were identified through Protein-Protein Interaction (PPI) analysis. Diagnostic and prognostic models were developed using machine learning algorithms and validated across both training and validation sets. Additionally, techniques such as Cell-type Identification by Estimating Relative Subsets of RNA Transcripts and single-cell RNA sequencing were employed to identify potential IPF-related cells. These findings were further investigated to elucidate their underlying mechanisms through in vitro experiments.RESULTSDifferentially expressed genes, WGCNA-identified blue module genes, and ERS-related genes extracted from the GeneCards database were intersected, and the resulting genes were used to construct diagnostic and prognostic models. Validation using multiple datasets indicated that both the diagnostic and prognostic models possess strong predictive capabilities. PPI analysis highlighted SPP1 as a potential hub gene in IPF. Moreover, M2 macrophages were found in higher quantities in the lung tissue of IPF patients, with a significant increase in SPP1-expressing M2 macrophages compared to the control group. In vitro experiments demonstrated that exogenous SPP1 inhibited the proliferation and migration of M2 macrophages and promoted apoptosis within a certain concentration range.CONCLUSIONThis study identifies ERS-related biomarkers in IPF, highlighting SPP1 and M2 macrophages. The resulting diagnostic and prognostic models offer strong predictive capabilities, unveiling new therapeutic avenues.

01 Dec 2024·Journal of Structural Biology

The intricacies of tooth enamel: Embryonic origin, development and human genetics

Review

Author: Duverger, Olivier ; Lee, Janice S ; Lee, Janice S.

Tooth enamel is a fascinating tissue with exceptional biomechanical properties that allow it to last for a lifetime. In this mini review, we discuss the unique embryonic origin of this highly mineralized tissue, the complex differentiation process that leads to its "construction" (amelogenesis), and the various genetic conditions that lead to impaired enamel development in humans (amelogenesis imperfecta). Tremendous progress was made in the last 30 years in understanding the molecular and cellular mechanism that leads to normal and pathologic enamel development. However, several aspects of amelogenesis remain to be elucidated and the function of many genes associated with amelogenesis imperfecta still needs to be decoded.

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Amelogenesis Imperfecta

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