Results 41 to 50 of about 379,319 (247)

Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey

Clinical Genetics, 2023
Abstract Female carriers of X‐linked inherited retinal diseases (IRDs) are burdened with potentially passing their disease‐causing variant to future generations, as well as exhibiting signs of retinal disease themselves. This study aimed to investigate carriers' experiences of genetic testing, emotions relating to
Sena A. Gocuk, Thomas L. Edwards, Jasleen K. Jolly, Lauren N. Ayton   +3 more
openaire   +3 more sources

Interplay between circadian and other transcription factors—Implications for cycling transcriptome reprogramming

FEBS Letters, EarlyView.
This perspective highlights emerging insights into how the circadian transcription factor CLOCK:BMAL1 regulates chromatin architecture, cooperates with other transcription factors, and coordinates enhancer dynamics. We propose an updated framework for how circadian transcription factors operate within dynamic and multifactorial chromatin landscapes ...
Xinyu Y. Nie, Jerome S. Menet
wiley   +1 more source

Caso para diagnóstico Case for diagnosis

Anais Brasileiros de Dermatologia, 2009
Queratose folicular espinulosa decalvante é uma genodermatose rara, ligada ao X, caracterizada por hiperqueratose folicular, fotofobia, alopécia cicatricial do couro cabeludo e supercílios. Descreve-se o caso de paciente do sexo feminino, de 25 anos, com
Carine Veloso de Carvalho, Ivander Bastazini Junior, Jaison Antonio Barreto, Isabela de Brito Duarte, Raissa Borém Pimenta de Figueiredo   +4 more
doaj   +1 more source

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Biomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T.J. Hollingsworth   +3 more
doaj   +1 more source

Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing

FEBS Letters, EarlyView.
Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley   +1 more source

Advances of gene therapy for primary immunodeficiencies [version 1; referees: 2 approved]

F1000Research, 2016
In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic ...
Fabio Candotti
doaj   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes

Frontiers in Cell and Developmental Biology, 2023
Dental mesenchymal stem cells (DMSCs) are multipotent progenitor cells that can differentiate into multiple lineages including odontoblasts, osteoblasts, chondrocytes, neural cells, myocytes, cardiomyocytes, adipocytes, endothelial cells, melanocytes ...
Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang   +77 more
doaj   +1 more source

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Chinese Medical Journal, 2017
X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations.A total of 22 patients from unrelated ...
Yuan-Yuan Lu, He Lyu, Su-Qin Jin, Yue-Huan Zuo, Jing Liu, Zhao-Xia Wang, Wei Zhang, Yun Yuan   +7 more
openaire   +3 more sources

Mechanisms of parasite‐mediated disruption of brain vessels

FEBS Letters, EarlyView.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira, Sílvia Arroz‐Madeira, Cláudio A. Franco, Sara Silva Pereira   +3 more
wiley   +1 more source