Results 61 to 70 of about 448,876 (293)

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Molecular Genetics & Genomic Medicine
Background TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental delay ...
Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo   +8 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Screening potential antileukemia ingredients from sweet potato: integration of metabolomics analysis, network pharmacology, and experimental validation

Frontiers in Nutrition
BackgroundActive dietary flavonoids are a promising resource for novel drug discovery. Sweet potato, a widely cultivated functional crop, is abundant in flavonoids.
Lianling Xu, Lianling Xu, Kaixuan Zeng, Kaixuan Zeng, Zuoyue Duan, Zuoyue Duan, Jing Liu, Yan Zeng, Miao Zhang, You Yang, Qulian Guo, Yanling Jin, Wenjun Liu, Ling Guo   +13 more
doaj   +1 more source

Involvement of deprivation and environmental lead in neural tube defects:a matched case-control study. [PDF]

, 2009
OBJECTIVE. To analyse the prevalence of neural tube defects in small geographical areas and seek to explain any spatial variations with reference to environmental lead and deprivation. SETTING.
Awwad, Fuad, Bound, John P., Francis, Brian J., Gatrell, Tony, Harvey, Peter W.   +4 more
core   +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

Examining Zika Virus: Transmission, Diagnosis, Treatment, and Prevention [PDF]

, 2020
The Zika virus is a mosquito-borne virus that was first isolated in Uganda in 1947 and has since caused outbreaks in many parts of the world. It has multiple routes of transmission and may cause acute illness and death if not treated.
Taybeh, Noura
core   +1 more source

Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]

, 2017
Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
core   +1 more source

Exploring the mechanism of fraxetin against acute myeloid leukemia through cell experiments and network pharmacology

BMC Complementary Medicine and Therapies
Objective Previous studies have shown that fraxetin has antitumor activity in a variety of tumors, but its role in acute myeloid leukemia (AML) remains unclear.
Tingting Fang, Lanqin Liu, Wenjun Liu
doaj   +1 more source

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]

, 2016
Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua, McDermott, Suzanne, Reichard, Amanda, Royer, Julie, Ruttenber, Margaret, Smith, Michael G., Valdez, Rodolfo   +6 more
core   +3 more sources

Mechanochemical Synthesis and Characterization of Nanostructured ErB4 and NdB4 Rare‐Earth Tetraborides

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
ErB4 and NdB4 nanostructured powders are produced by mechanochemical synthesis. 5 h mechanical alloying and 4 M HCl acid leaching are used in the production. ErB4 and NdB4 powders exhibit maximum magnetization of 0.4726 emu g−1 accompanied with an antiferromagnetic‐to‐paramagnetic phase transition at about TN = 18 K and 0.132 emu g−1 with a maximum at ...
Burçak Boztemur, Faruk Kaya, Bora Derin, Mustafa Lütfi Öveçoğlu, Ju Li, Duygu Ağaoğulları   +5 more
wiley   +1 more source