Article
Medicine, Research & Experimental
Xiaoyan Wu, Yuwen Zhu, Yan Guo, Zhigang Zhao, Zheng Li
Summary: This study investigated the role of GRB2-related adaptor protein (GRAP) in hepatic stellate cell (HSC) activation and liver fibrosis. The results showed that GRAP expression was up-regulated during HSC-myofibroblast transition and that inhibition of GRAP blocked the transition. Additionally, knockdown of GRAP attenuated liver fibrosis in mice, and inhibition of ERK signaling abolished the enhancement of HSC-myofibroblast transition by GRAP over-expression.
Article
Genetics & Heredity
Chen Pan, Jun Li, Shixin Wang, Chen Shi, Yunmei Zhang, Yafeng Yu
Summary: This report presents a case of novel heterozygous mutations in the OTOGL gene causing mild sensorineural hearing loss. Two novel mutations were identified through whole exome sequencing and Sanger sequencing, enriching the mutation spectrum of OTOGL and providing a foundation for gene function research and genetic counseling.
Article
Genetics & Heredity
Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo, Huawei Li
Summary: Hearing loss is a common sensory neural disorder in humans, affecting a significant percentage of the global population. A study on a Chinese family with prelingual sensorineural hearing loss identified a pathogenic variant in the PDZD7 gene, highlighting its clinical importance in patients with moderately severe hearing loss.
BMC MEDICAL GENOMICS
(2022)
Article
Audiology & Speech-Language Pathology
Ting-Ting Yen, I-Chieh Chen, Sudi Cho, Ting-Gang Chang, Kai-Hsiang Shih, Men-Wei Hua, Jui-Lin Li, Chiann-Yi Hsu, Tzu-Hung Hsiao, Yi-Ming Chen
Summary: This study investigated the auditory features, progression rate, and allele frequency of GJB2 p.V37I mutations among an adult Taiwanese population. The results showed that GJB2 p.V37I mutation is associated with an increased risk of hearing loss and is also related to humerus fracture.
Article
Genetics & Heredity
Aboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, Grigoriy A. Yanus, Bjoern Schulte, Marcus Mueller, Evgeny N. Imyanitov, Saskia Biskup, Hubert Loewenheim, Anke Tropitzsch, Barbara Vona
Summary: COL11A1-encoded alpha-chain collagen molecules are crucial for skeletal, ocular, and auditory function. Variants in COL11A1 have been associated with syndromes affecting these systems. This study provides evidence that splice-altering variants in COL11A1 cause DFNA37 hearing loss, emphasizing the importance of including COL11A1 in genetic testing for nonsyndromic deafness.
Article
Genetics & Heredity
Caio Robledo D' Angioli Costa Quaio, Antonio Victor Campos Coelho, Livia Maria Silva Moura, Rafael Lucas Muniz Guedes, Kelin Chen, Jose Ricardo Magliocco Ceroni, Renata Moldenhauer Minillo, Marcel Pinheiro Caraciolo, Rodrigo de Souza Reis, Bruna Mascaro Cordeiro de Azevedo, Maria Soares Nobrega, Anne Caroline Barbosa Teixeira, Matheus Martinelli Lima, Thamara Rayssa da Mota, Marina Cadena da Matta, Gabriela Borges Cherulli Colichio, Aline Lulho Roncalho, Ana Flavia Martinho Ferreira, Gabriela Pereira Campilongo, Eduardo Perrone, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Marina de Franca, Murilo Castro Cervato, Tatiana Ferreira de Almeida, Joao Bosco de Oliveira Filho
Summary: This study analyzed whole-genome sequencing data from individuals unaffected by hearing loss in the Brazilian Rare Genomes Project, identifying pathogenic and likely pathogenic variants associated with nonsyndromic hearing loss (NSHL) and estimating the population frequency of affected individuals with autosomal recessive NSHL.
FRONTIERS IN GENETICS
(2022)
Article
Cell Biology
Minjin Kang, Jung Ah Kim, Mee Hyun Song, Sun Young Joo, Se Jin Kim, Seung Hyun Jang, Ho Lee, Je Kyung Seong, Jae Young Choi, Heon Yung Gee, Jinsei Jung
Summary: In this study, a novel nonsense homozygous variant in CEP250 was identified among family members with progressive moderate sensorineural hearing loss. This variant resulted in centrosome localization deficit and hair cell degeneration in the cochlea, leading to the progression of hearing loss in humans and mice.
Article
Biochemistry & Molecular Biology
Alexander O. Brien, Wen Yih Aw, Hui Yi Tee, Kaleb M. Naegeli, Guney Bademci, Mustafa Tekin, Kathleen Arnos, Arti Pandya
Summary: The study reported two families with male members affected by X-linked HL, inheriting rare COL4A6 variants from their mothers, and conducted genetic research to demonstrate the potential link between COL4A6 gene variants and X-linked NSHL.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Medical Laboratory Technology
Ehsan Abbaspour Rodbaneh, Mohammad Panahi, Bahareh Rahimi, Haleh Mokabber, Reza Farajollahi, Behzad Davarnia
Summary: This study in the Iranian Azeri population identified the c.35delG; p. Gly12Val mutation in the GJB2 gene as the most common cause of ARNSHL, with a frequency of 26%. A novel mutation was also detected, highlighting the importance of ARNSHL screening programs based on local population data.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Cell Biology
Lian Liu, Linzhi Zou, Kuan Li, Hanqing Hou, Qun Hu, Shuang Liu, Jie Li, Chenmeng Song, Jiaofeng Chen, Shufeng Wang, Yangzhen Wang, Changri Li, Haibo Du, Jun-Liszt Li, Fangyi Chen, Zhigang Xu, Wenzhi Sun, Qianwen Sun, Wei Xiong
Summary: This study discovers that nonhomologous end-joining mediated editing can compensate gene mutations and restore lost mechanotransduction function, which is of great significance for treating human nonsyndromic deafness.
Article
Genetics & Heredity
Maria Lachgar, Matias Morin, Manuela Villamar, Ignacio del Castillo, Miguel Angel Moreno-Pelayo
Summary: In this study, a novel HOMER2 variant was identified in a Spanish family, expanding the mutational spectrum of this gene and contributing to clarifying the genotype-phenotype correlations of DFNA68 hearing loss. The identified mutation affects the protein structure at the same region as a previously identified mutation in a Chinese family, suggesting a common pathogenic mechanism in both populations. Age-matched patients in both families displayed similar hearing loss phenotypes.
Article
Genetics & Heredity
Yajuan Gao, Qianli Zhang, Shiyu Zhang, Lu Yang, Yaping Liu, Yuehua Liu, Tao Wang
Summary: A mutation of GJB3 associated with erythrokeratodermia variabilis, ichthyosis, and non-syndromic hearing loss is reported in this Chinese pedigree. The daughter with erythrokeratodermia variabilis and the son with non-syndromic hearing loss inherited the mutation from their mother with ichthyosis. Variation in clinical features may involve genetic, epigenetic, and environmental factors.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Kevin T. Booth, Yoel Hirsch, Anna C. Vardaro, Josef Ekstein, Devorah Yefet, Adina Quint, Tzvi Weiden, David P. Corey
Summary: This study investigated the genetic causes of hearing loss in four Ashkenazi Jewish families, identifying new variants in the MYO15A gene. The research revealed the impact of different variants on the phenotype of hearing loss, further elucidating the role of genetic backgrounds in hearing loss.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Zahra Zeraatpisheh, Ali Saber Sichani, Neda Kamal, Hossein Jafari Khamirani, Sina Zoghi, Elham Ehsani, Sanaz Mohammadi, Seyed Sajjad Tabei, Seyed Alireza Dastgheib, Seyed Mohammad Bagher Tabei, Mehdi Dianatpour
Summary: This study reports a rare pathogenic variant in the MCM2 gene that causes hearing loss and confirms that the hearing loss caused by MCM2 gene variants is non-syndromic.
JOURNAL OF GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Hee Ji Choi, Sumaira Kanwal, Rashid Hameed, Nasrin Tamanna, Shazia Perveen, Hina Mahreen, Wonseok Son, Kyung Suk Lee, Ki Wha Chung
Summary: This study performed genetic analysis on Pakistani DFNB families and identified biallelic mutations as the potential cause of early onset hearing loss in six families. This research will contribute to providing precise molecular diagnosis and treatment for patients with prelingual onset deafness.
Article
Audiology & Speech-Language Pathology
Mine Baydan-Aran, Kubra Binay-Bolat, Gulcin Hancer-Aslan, Selen Avci-Can, Secil Yegin, Seher Oztas, Suna Tokgoz-Yilmaz, Irfan Yorulmaz
Summary: There was no significant difference between TRV Chair and manual maneuvers in the treatment of multicanal BPPV cases.
AUDIOLOGY AND NEURO-OTOLOGY
(2023)
Article
Environmental Sciences
Xiaocong Zhong, Xianliang Yi, Fanqi Cheng, Huiyan Tong, Weiping Xu, Xiaojing Yang
Summary: There is a growing concern about plastic pollution and its impact on both health and ecology. This study investigated the release of di-2-ethylhexyl phthalate (DEHP), a common plastic additive, from different types of plastics into seawater. The results showed that the leaching potentials of DEHP varied among the selected plastics, with polyethylene mulch having the highest leaching potential and PBAT/PLA bags having the lowest. The study also assessed the potential environmental and human exposure risk of the leached DEHP, indicating low pollution risks in seawater.
Article
Environmental Sciences
Ji-Ning Yang, Jingjing Zhan, Hao Zhou, Huan-Huan Yang, Shi-Yu Zhang, Xianliang Yi, Jiajia Shan, Yang Liu
Summary: Simultaneously increasing the oxidative ability, recy-clability and deactivation repellence of α-MnO2 was achieved through one step treatment in oxalic acid (H2C2O4), resulting in a versatile formaldehyde oxidation material.
ENVIRONMENTAL RESEARCH
(2023)
Article
Materials Science, Textiles
Mengmeng Li, Qiuyu Xu, Wei Jiang, Amjad Farooq, Yirui Qi, Lifang Liu
Summary: In this study, Fe3O4 nanoparticles and graphene oxide (GO) are combined to form Fe3O4@reduced graphene oxide (rGO) composites. Cellulose nanofiber (CNF) and l-ascorbic acid are then added, and the mixture is freeze-dried to produce Fe3O4@rGO/CNF foams. The resulting foams exhibit improved electrical conductivity and magnetism, making them suitable for electromagnetic interference (EMI) shielding materials. The optimized foam shows an EMI shielding effectiveness value of approximately 23 dB in the X-band, thanks to the porous structure and composition of Fe3O4@rGO/CNF foams. This research provides a reference for the design and fabrication of novel EMI shielding materials.
FIBERS AND POLYMERS
(2023)
Article
Environmental Sciences
Rui Liu, Huan-Huan Yang, Hao Zhou, Xianliang Yi, Yang Liu
Summary: This study investigated the feasibility of MnO2 materials as particulate matter (PM) filtering media and clarified the effect of crystal structure on PM filtration. MnO2 with tunnel structure exhibited enhanced PM removal efficiencies compared to layered delta-MnO2.
JOURNAL OF ENVIRONMENTAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
Nicole Dueker, Liyong Wang, Hannah Gardener, Lissette Gomez, Sonya Kaur, Ashley Beecham, Susan H. Blanton, Chuanhui Dong, Jose Gutierrez, Ying Kuen Cheung, Yeseon P. Moon, Bonnie Levin, Clinton B. Wright, Mitchell S. V. Elkind, Ralph L. Sacco, Tatjana Rundek
Summary: This study conducted a genome-wide association study on executive function in a racially and ethnically diverse cohort. They identified several SNPs in the LINC01362 gene on chromosome 1p31.1 that were significantly associated with executive function. These SNPs were found to influence the expression of genes involved in executive function in various regions of the brain.
NEUROBIOLOGY OF AGING
(2023)
Article
Optics
Hexun Jiang, Mengfan Fu, Yixiao Zhu, Lilin Yi, Weisheng Hu, Qunbi Zhuge
Summary: Digital pre-distortion (DPD) is used to mitigate transmitter nonlinear distortion in optical transmissions. In this study, the identification of DPD coefficients is applied in optical communications for the first time using the direct learning architecture (DLA) with the Gauss-Newton (GN) method. The results show that the GN-based DLA outperforms the LS-based indirect learning architecture (ILA), especially in low signal-to-noise ratio scenarios.
Article
Materials Science, Characterization & Testing
Lvzhu Cheng, Amjad Farooq, Hai Wei Yang, Peng Wang, Qifan Qiao, Mingming Guo, Yong Wang, Zongqian Wang
Summary: A low-dosage chemicals, short process alternative approach to reactive dyeing of golden cocoon-like silk fibers with robust color fastness was proposed. The color of the dyed silk fibers was comparable to commercial golden cocoon silk and showed no color degradation after cyclic washing. The tensile behavior of the reactive dyed silk fibers was not significantly decreased compared to the raw fibers.
Article
Materials Science, Characterization & Testing
Yingping Wan, Amjad Farooq, Yi Sun, Fan Bu, Hui Zhang, Zongqian Wang
Summary: This study has developed a novel method to accurately categorize the types and content of stains in down raw materials. The method, named one blow and two washes, was successfully used to distinguish stain categories of different sources of down raw material with high reliability and good reproducibility.
Article
Nuclear Science & Technology
Jawaria Ahad, Amjad Farooq, Masroor Ahmad, Khalid Waheed, Kamran Rasheed Qureshi, Waseem Siddique, Naseem Irfan
Summary: Different experiments were conducted in a lab scale FCVS setup to understand the mechanism of wet scrubbing and improve the efficiency of iodine removal. Results showed that the decontamination factor was mainly influenced by gas flowrate and liquid level height. Decreasing the bubble diameter by increasing gas velocity enhanced mass transfer and removal efficiency, achieving over 99.9% removal efficiency.
PROGRESS IN NUCLEAR ENERGY
(2023)
Article
Ophthalmology
Maria Fernanda Villalba, Chris Michael Li, Parastou Pakravan, Guney Bademci, Ta Chen Peter Chang
Summary: This study compared NGS-MGPs from 5 commercial laboratories to assist ophthalmologists in diagnostic genetic testing decisions for CASAs. The gene panel composition, consensus rate, dissensus rate, and intronic variant coverage were compared for different conditions. The study found that the genetic testing of CASAs using NGS-MGPs is complicated due to the number, variety, and overlap of phenotypic and genetic characteristics. Further research is needed to determine the diagnostic yield of NGS-MGPs for CASAs.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Yukuan Duan, Chen Wang, Shilong Yang, Lifen Liu
Summary: Researchers doped single metal atom Co into the Z-type heterojunction of photocatalysts, which further enhanced their synergistic activity. The optimal Co doping at 0.2 wt% in the 10 wt% g-C3N4/Bi2WO6 heterojunction showed the highest efficiency in degrading RhB (at a concentration of 100 mg/L) under visible light irradiation (99.7% degradation in 30 min, kinetic rate constant 0.182 min(-1)). This single-atom doped catalyst (Co/g-C3N4/Bi2WO6) exhibited remarkable performance in treating practical wastewater in EC-MFC system (96% COD removal and 92.8% TOC removal).
JOURNAL OF CHEMICAL TECHNOLOGY AND BIOTECHNOLOGY
(2023)
Article
Clinical Neurology
Emre Soylemez, Kubra Binay Bolat, Kursad Karakoc, Mehmet Can, Hazan Basak, Zehra Aydogan, Suna Tokgoz-Yilmaz
Summary: This study aimed to investigate the effect of using a TRV chair on residual dizziness (RD) after successful treatment of idiopathic posterior semicircular canal benign paroxysmal positional vertigo (BPPV) with canalith repositioning maneuver (CRM). The results showed that performing CRM with a TRV chair can reduce the severity of RD compared to manual repositioning.
OTOLOGY & NEUROTOLOGY
(2023)
Review
Chemistry, Inorganic & Nuclear
Teng Li, Xuefeng Ren, Lifen Liu
Summary: This article summarizes and investigates the progress in the research of single-atom catalysts (SACs) in environmental applications and energy field. SACs have shown great potential in advanced oxidation processes, photocatalysis and photo-electrochemical systems, as well as fuel cells, with their performance depending on the metal element, support substrate, and coordination status shaped in preparation.
INORGANICA CHIMICA ACTA
(2024)
Article
Otorhinolaryngology
Ekin Yigit Koroglu, Asena Gokcay Canpolat, Suna Yilmaz, Ozgur Demir
Summary: This study aimed to screen patients diagnosed with sensorineural hearing loss for Fabry disease. The results showed that 2 out of 168 patients (1.2%) were diagnosed with Fabry disease using enzyme activity and genetic testing. This suggests that screening for Fabry disease in patients with idiopathic sensorineural hearing loss may be a useful strategy for detecting new cases.
TURKISH ARCHIVES OF OTORHINOLARYNGOLOGY
(2023)