Results 121 to 130 of about 631,764 (332)

The Quantitative Genetics of Human Disease: 1 Foundations [PDF]

arXiv, 2023
In this the first of an anticipated four paper series, fundamental results of quantitative genetics are presented from a first principles approach. While none of these results are in any sense new, they are presented in extended detail to precisely distinguish between definition and assumption, with a further emphasis on distinguishing quantities from ...
arxiv  

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

Medicina, 2019
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin.
Laura Cristina Gironi, Francesca Zottarelli, Gianfranco Savoldi, Lucia Dora Notarangelo, Maria Eleonora Basso, Ivana Ferrero, Fabio Timeus, Franca Fagioli, Luigi Maiuri, Enrico Colombo, Paola Savoia   +10 more
doaj   +1 more source

Artesunate Inhibits Neointimal Hyperplasia by Promoting IRF4 Associated Macrophage Polarization

Advanced Science, EarlyView.
This study shows that macrophage interferon regulatory factor 4 (IRF4) improved arterial injury‐induced neointimal hyperplasia by promoting of M2 polarization via up‐regulating krüppel‐like factor 4 (KLF4) in rodent and nonhuman primate models. Notably, artesunate is identified as a potent inducer of IRF4 in macrophages, and proposed as a promising ...
Jinlin Miao, Yule Yong, Zhaohui Zheng, Kui Zhang, Wei Li, Jiayi Liu, Siyi Zhou, Juan‐juan Qin, Haoyang Sun, Yatao Wang, Xianghui Fu, Xing Luo, Siyu Chen, Zhi‐Gang She, Jingjing Cai, Ping Zhu   +15 more
wiley   +1 more source

Routes for breaching and protecting genetic privacy [PDF]

arXiv, 2013
We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases. However, one growing concern is the ability to protect the genetic privacy of the data originators.
arxiv  

Nanotherapy for Neural Retinal Regeneration

Advanced Science, EarlyView.
Nanotechnology enhances ophthalmic treatments by improving drug delivery and regenerating ocular tissues, combating vision loss from retinal diseases through innovative nano‐systems. This review outlines ocular anatomy, pathology, immune microenvironment, and barriers, detailing nanocarrier characteristics, classification, and preparation methods, and ...
Chuyao Yu, Li Dong, Yujia Lv, Xuhan Shi, Ruiheng Zhang, Wenda Zhou, Haotian Wu, Heyan Li, Yitong Li, Zhou Li, Dan Luo, Wen‐Bin Wei   +11 more
wiley   +1 more source

Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 more
doaj   +1 more source

Increasing the Discovery Power and Confidence Levels of Disease Association Studies: A Survey [PDF]

arXiv, 2017
The majority of common diseases are influenced by multiple genetic and environmental factors such as Cancer. Even though uncovering the main causes of disease is deemed difficult due to the complexity of gene-gene and gene-environment interactions, major research efforts aim at identifying disease risk factors, especially genetic ones.
arxiv  

Integrative genetic risk prediction using nonparametric empirical Bayes classification [PDF]

, 2016
Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are trained.
arxiv   +1 more source

Long‐Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model

Advanced Science, EarlyView.
This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du, Jun Huang, Aizhen Zhang, Fangfang Zhao, Tianwen Chen, Quinn M. McDermott, Tony Zheng, Haibo Wang, Rongli Zhang, Xiaolin Zhang, Jerome Allison, Hong Zhu, Wu Zhou, Qing Yin Zheng   +13 more
wiley   +1 more source