Results 21 to 30 of about 435 (138)

Epidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey

Journal of International Medical Research
Objective This current cross-sectional study aimed to investigate the demographic characteristics and molecular epidemiology of patients with Usher syndrome in the Turkish population.
Abdurrahman Alpaslan Alkan, Dilek Güven, Hakan Kaçar, Bilge Türk, Gürcan Doğukan Arslan, Gamze Karataş, Mehmet Egemen Karataş, Hani Al Saadoni, Oğuz Kaan Kutucu, Murat Karapapak, Yekta Şendül, Eyüp Düzgün   +11 more
doaj   +1 more source

Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A

Stem Cell Research, 2023
Usher syndrome type 2A (USH2A) gene mutations have been identified as the most frequent genetic causes of hereditary deafness in Usher syndrome, and an effective treatment has yet to be established.
Takao Ukaji, Mikako Takahashi-Shibata, Daisuke Arai, Harumi Tsutsumi, Shori Tajima, Wado Akamatsu, Fumihiko Matsumoto, Katsuhisa Ikeda, Shin-ichi Usami, Kazusaku Kamiya   +9 more
doaj   +1 more source

Establishment of pediatric reference ranges for circulating naïve and memory T and B cell subsets guided by the human immunophenotyping consortium standardization initiative: A large, single center U.S. experience

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Our knowledge of the immune system continues to expand at a rapid pace, and this coupled with technological advances now enables us to interrogate both the breadth and the depth of the immune response at levels without precedent. This has also facilitated rapidly integrating some of this carefully vetted knowledge into clinical practice ...
Aaruni Khanolkar, Aisha Ahmed
wiley   +1 more source

Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants

Stem Cell Research, 2021
Usher syndrome 2A (USH2A) is one of the most common genes associated with Usher syndrome type II (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa (arRP).
Tian Zhu, Shijing Wu, Zixi Sun, Xing Wei, Xiaoxu Han, Xuan Zou, Ruifang Sui   +6 more
doaj   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

Journal of Clinical Laboratory Analysis, EarlyView.
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi, Mona Entezam, Seyed Alireza Dastgheib   +4 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Data privacy model using blockchain reinforcement federated learning approach for scalable internet of medical things

CAAI Transactions on Intelligence Technology, EarlyView.
Abstract Internet of Medical Things (IoMT) has typical advancements in the healthcare sector with rapid potential proof for decentralised communication systems that have been applied for collecting and monitoring COVID‐19 patient data. Machine Learning algorithms typically use the risk score of each patient based on risk factors, which could help ...
Chandramohan Dhasaratha, Mohammad Kamrul Hasan, Shayla Islam, Shailesh Khapre, Salwani Abdullah, Taher M. Ghazal, Ahmed Ibrahim Alzahrani, Nasser Alalwan, Nguyen Vo, Md Akhtaruzzaman   +9 more
wiley   +1 more source

Opening the Door Wider to Community Support of People With Serious Mental Illnesses: What States Can Learn From the IDD Experience

The Milbank Quarterly, EarlyView.
Policy Points The federal government should provide states with authorities under Medicaid that allow greater use of home and community‐based services for people with serious and persistent mental illness. This requires deemphasizing authorities that require budget neutrality in a post‐institutionalization world (Section 1115 waivers) and relying on ...
HAROLD POLLACK, RICHARD FRANK, SHERRY GLIED   +2 more
wiley   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source