Results 121 to 130 of about 189,911 (267)

Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review

JCRPE
Weiss-Kruszka syndrome (WSKA; OMIM#618619) is a rare condition with multiple congenital anomalies. This study describes a patient with WSKA from Northern China. The patient was a 9.75-year-old boy who presented with growth retardation (growth velocity: 3-
Lele Li, Chunxiu Gong
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Genotypic characterization of Pseudomonas aeruginosa isolates from Turkish children with cystic fibrosis

, 2019
Dicle Sener Okur,1 Caner Yuruyen,2 Ozge Gungor,2 Zerrin Aktas,2 Zayre Erturan,2 Necla Akcakaya,3 Yildiz Camcioglu,3 Haluk Cokugras,3 Kaya Koksalan41Istanbul University Cerrahpasa, Faculty of Medicine, Department of Pediatrics, Division of Pediatric ...
Akcakaya N, Camcioglu Y, Gungor O, Cokugras H, Aktas Z, Sener Okur D, Yuruyen C, Erturan Z, Koksalan K   +8 more
core  

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Unraveling Genetic Relationship and Morphological Divergence of Rasbora tornieri (Ahl, 1922) across Sumatra Island

Journal of Tropical Life Science
Previous research indicates that the genetic diversity of Rasbora tornieri (Ahl, 1922) from the Musi River population in South Sumatra is notably low compared to populations from Borneo.
Furqan Prawira, Syaifullah, Djong Hon Tjong, Aadrean, Tesri Maideliza, Dewi Imelda Roesma   +5 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Genomic dynamics of clinical Plasmodium vivax: comparative genomic hybridization in severe malaria cases

Frontiers in Malaria
BackgroundCopy number variations (CNVs) in the Plasmodium vivax genome can influence key parasite traits such as erythrocyte invasion, immune evasion, drug resistance, and survival in the human host.
Sampreeti Tahbildar, Pon Arunachalam Boopathi, Sanjay Kumar Kochar, Dhanpat Kumar Kochar, Mohamed Aiyaz, Raja C. Mugasimangalam, Sudha N. Rao, Ashis Das   +7 more
doaj   +1 more source

Root-to-shoot ABA signaling does not contribute to genotypic variation in stomatal functioning induced by high relative air humidity

, 2016
High relative air humidity (RH ≥85%) during leaf expansion hampers stomatal responsiveness to closing stimuli, a genotype-dependent effect. Genotypes with reduced stomatal closure in response to closing stimuli (i.e., sensitive genotypes) show low bulk ...
Almeida, D.P.F., Monteiro, José, Vasconcelos, M.W., Correia, Maria João, Carvalho, Dália R.A., Fanourakis, Dimitrios, Vasconcelos, Marta W., Heuvelink, Ep, Pinto de Carvalho, S., Carvalho, Dália R. A., Heuvelink, Ep., Monteiro, José A., Araújo-Alves, José Pedro L., Carvalho, Susana M. P., Monteiro, J.A., Heuvelink, E., Correia, Maria J., Correia, M.J., Almeida, Domingos P. F., Fanourakis, D., Araújo-Alves, J.P.L.   +20 more
core   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Genotypic Patterns of Secreted Aspartyl Proteinase Gene in Various Candida Species Isolated from Antenatal Women with Vulvovaginal Candidiasis

, 2019
Vulvovaginal candidiasis (VVC) is a commonly found disease in antenatal women caused by Candida species. The usual presentations are persistent curdy white vaginal discharge with itching, bad odour, irritation, pain in the lower abdomen and local ...
Kanishka Hrishi Das, Maitrayee Sen, V. Mangayarkarasi   +2 more
core   +1 more source