Article
Clinical Neurology
Peng Liu, Dehao Yang, Fan Zhang, Shuqi Chen, Fei Xie, Yong Luo, Haotian Wang, Yueting Chen, Zhiru Lin, Lebo Wang, Xinhui Chen, Bo Wang, Sheng Wu, Zhiyuan Ouyang, Zhidong Cen, Wei Luo
Summary: In this study, the clinical, neuroimaging, and pathological characteristics of patients with Parkinson's disease carrying pathogenic GGC repeat expansion in NOTCH2NLC were investigated. Although these patients were clinically diagnosed with Parkinson's disease, their pathological findings indicated a phenotype of Parkinson's disease that mimics neuronal intranuclear inclusion disease. Systemic areflexia may be an important clinical clue for further genetic testing and confirmatory skin biopsy in patients presenting with a Parkinson's disease phenotype.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Genetics & Heredity
Pingping Ren, Hongjun Chen, Yucheng Wang, Cuili Wang, Shi Feng, Hong Jiang, Jianghua Chen
Summary: MYH9-related disease is an autosomal dominant disorder caused by mutations in the MYH9 gene. The patient in this case presented with a more severe phenotype than previously reported, including thrombocytopenia, inclusion bodies in neutrophils, sensorineural hearing loss, nephropathy, and abnormal liver enzymes. Early intervention is necessary to prevent further progression of renal involvement in affected individuals.
FRONTIERS IN GENETICS
(2021)
Article
Clinical Neurology
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sanchez-Montanez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bonnemann
Summary: In this study, we examined FHL1-related reducing body myopathy patients using muscle ultrasound, muscle MRI, and cardiac MRI. The results showed that muscle ultrasound and muscle MRI are practical and informative tools for diagnosis and monitoring of disease progression.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Otorhinolaryngology
Chen Pan, Yunmei Zhang, Siqi Yang, Chun Chen, Jinxin Wang, Chen Shi, Yafeng Yu
Summary: The study identified a novel MYH9 mutation associated with hearing loss, providing important insights for gene function research and genetic consultation.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2022)
Article
Multidisciplinary Sciences
Grant C. O'Connell
Summary: In this study, the influence of donor leukocyte counts on the transcriptional composition of whole blood specimens was assessed using next generation sequencing in combination with flow cytometry. Four frequently used data normalization approaches were tested, and it was found that three of these approaches masked the true biological structure of the data. The only strategy that improved the detection of true biological variance was simple scaling of read counts by sequencing depth.
SCIENTIFIC REPORTS
(2023)
Review
Biochemistry & Molecular Biology
Ketty Dugo, Francesca Bruno, Valentina Sturiale, Desiree Brancato, Salvatore Saccone, Concetta Federico
Summary: Point mutations of the TTR gene are associated with hATTR, requiring further investigation into their impact on expressivity, complexity, progression, and transmission. Emphasis should be placed on researching somatic mosaicism to explain the complexity of clinical features, estimate new case numbers, and focus on early personalized gene therapy.
Article
Multidisciplinary Sciences
Yasuhiro Yamamoto, Haruka Chino, Satoshi Tsukamoto, Koji L. Ode, Hiroki R. Ueda, Noboru Mizushima
Summary: This study demonstrates that NEK9 interacts with MYH9 to regulate ciliogenesis, with NEK9's LIR playing a key role in the autophagic degradation of MYH9. This interaction may have adaptive implications for terrestrial life, given the conservation of NEK9's LIR only in land vertebrates.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Kun Li, Runming Jin, Wenfu Xu, Yaqing Shen, Ke Lu, Xiaoyan Wu
Summary: Congenital macrothrombocytopenia is a group of hereditary disorders caused by mutations in the MYH9 gene, which encodes the nonmuscle myosin heavy chain-A. This study reports a sporadic case of Epstein syndrome in a 4-year-old Chinese boy, who had a de novo heterozygous MYH9 mutation. The genotype-phenotype analysis suggests a domain-specific relationship between the mutation location and the nonhematologic characteristics of MYH9-related disorders.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2021)
Article
Clinical Neurology
Chenhui Mao, Liangrui Zhou, Jie Li, Junyi Pang, Shanshan Chu, Wei Jin, Xinying Huang, Jie Wang, Caiyan Liu, Qing Liu, Honglin Hao, Yan Zhou, Bo Hou, Feng Feng, Lu Shen, Beisha Tang, Bin Peng, Liying Cui, Jing Gao
Summary: This study analyzed the relationship between clinical manifestations, neuroimaging, and skin pathology in a Chinese cohort of Neuronal Intranuclear Inclusion Disease (NIID). The findings indicate that specific distribution of leukoencephalopathy and DWI high intensity in neuroimaging are indicative in NIID. The study also highlighted the importance of subcortical mechanism and leukoencephalopathy in the pathogenesis of NIID.
Article
Biochemistry & Molecular Biology
Emanuele Mocciaro, Roberto Giambruno, Stefano Micheloni, Filippo M. Cernilogar, Annapaola Andolfo, Cristina Consonni, Maria Pannese, Giulia Ferri, Valeria Runfola, Gunnar Schotta, Davide Gabellini
Summary: FSHD is a prevalent neuromuscular disorder associated with copy number reduction and epigenetic alterations of the D4Z4 macrosatellite on chromosome 4q35. Aberrant expression of the transcription factor DUX4 plays a key role in this disease. In this study, the authors identified the chromatin remodeling protein WDR5 as an interactor of the long non protein-coding RNA DBE-T and demonstrated its requirement for the expression of DUX4 and its targets. Targeting WDR5 rescued cell viability and myogenic differentiation of FSHD patient cells, suggesting it as a potential therapeutic target for FSHD.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Clinical Neurology
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gozde Yesil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gulacar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Genevieve Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel-Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian
Summary: Bi-allelic variants in NFU1 gene can lead to either early-onset hereditary spastic paraplegia (HSP) or multiple mitochondrial dysfunction syndrome 1 (MMDS1).
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Pediatrics
Seth I. Berger, Ilana Miller, Laura Tochen
Summary: This study reported a case of a child who initially had negative results on whole exome sequencing, but further evaluation and analysis led to a diagnosis of treatable DOPA-responsive dystonia. It highlights the importance of careful review of uncertain variants and consideration of the clinical context during exome sequencing.
Article
Radiology, Nuclear Medicine & Medical Imaging
Jingping Wu, Guanghan Li, Jian Liu, Weiliang Sun, Jiang Liu, Guming Zou, Haitao Lu, Min Zheng
Summary: This study aimed to investigate the effects of tissue fibrosis and microvessel density on shear wave-based ultrasound elastography (SWUE) of chronic kidney disease (CKD). It was found that SWUE had very low diagnostic value for CKD staging and its utility was affected by multiple factors, limiting its diagnostic value.
EUROPEAN RADIOLOGY
(2023)
Article
Immunology
Xiangyang Yao, Hui Zhou, Chen Duan, Xiaoliang Wu, Bo Li, Haoran Liu, Yangjun Zhang
Summary: By comprehensively analyzing TGCT patient data, we found significant differences in gene expression and alternative splicing (AS) between embryonal carcinoma and seminoma, while mixed cell tumors were intermediate. Gene ontology enrichment analyses identified transcriptional regulatory pathways enriched in both differentially expressed and spliced genes and revealed a clear correlation between gene expression and AS events. We identified crucial AS-related molecules (SOX2 and HDAC9) that regulate gene expression and validated their involvement in embryonal carcinoma and seminoma cell lines. Differences in somatic mutations between subtypes were also observed.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Yue Wang, Yinyin Cao, Yang Li, Meifen Yuan, Jin Xu, Jian Li
Summary: In this study, 6 hub genes (TLR8, AQP9, CXCR1, FPR2, HCK, and IL1R2) were found to be significantly associated with neutrophil cell infiltration, playing an important role in IVIG resistance. This study provides potential diagnostic biomarkers and therapeutic targets for IVIG-resistant patients.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
