Results 111 to 120 of about 3,022,656 (326)

Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients

Molecular Genetics & Genomic Medicine
Background Coffin‐Siris syndrome (CSS) is a rare, clinically and genetically heterogeneous disorder characterized by coarse facial features, microcephaly, intellectual disability (ID), developmental delay (DD), and hypo/aplastic digital nails and ...
Shan Ou, Shujie Zhang, Qi Yang, Qiang Zhang, Xunzhao Zhou, Qinle Zhang, Xiuliang Rong, Nana Qi, Jiale Qian, Bibing Xi, Ranran Lin, Shengkai Wei, Jingyu Su, Zailong Qin, Jingsi Luo   +14 more
doaj   +1 more source

The Aging Blood: Cellular Origins, Circulating Drivers, and Therapeutic Potential

Aging and Cancer, EarlyView.
As a conduit linking all organs, the blood system both reflects and actively drives systemic aging. This review highlights how circulating pro‐aging and antiaging factors and age‐associated hematopoietic stem cell dysfunction contribute to immunosenescence and multi‐organ decline, positioning the hematopoietic system as a target for aging intervention.
Hanqing He, Jianwei Wang
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Relationship of Estrogen Intestinal Microbiological Axis of Estrogen with Metabolic Defects in SD Rat Model of Polycystic Ovary Syndrome Induced by DHEA [PDF]

, 2022
Jiahua Peng, Shiyao Hua, Qian Wu
openalex   +1 more source

Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong, Min‐Hee Lee, Hiroshi Uda, Yoon Ho Hwang, Michael Behen, Aimee Luat, Csaba Juhász, Eishi Asano   +7 more
wiley   +1 more source

Predicting the risk of high-grade precancerous cervical lesions based on high-risk HPV typing in Changsha China

BMC Women's Health
Background Persistent infection with high-risk human papillomavirus (HPV) is a significant risk factor for cervical cancer. HPV typing and cytology are conducted in women of appropriate age to assess the risk of cervical lesions and to guide the need for
Yaling Xiao, Rangjiao Liu, Shaobo Wang, Yuxiang Wang, Weimin Miao, Meiwei Chen, Xiaowen Liu, Yan Chen, Yongchun Wen, Zhongping Deng, Lizhong Dai, Zenghui Mao, Jun He   +12 more
doaj   +1 more source

EP07.07: Antenatal ultrasonographic prediction of gastrointestinal function in the setting of open neural tube defects [PDF]

, 2023
Jessian L. Munoz, E. Kelling, Rebecca Johnson, Cara Buskmiller, William E. Whitehead, Luc Joyeux, Roopali Donepudi, Ahmed A. Nassr, M. Belfort, Jonathan Castillo, H. A. Castillo, Magdalena Sanz Cortés   +11 more
openalex   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Titanium tube blocking margin and defect management for condenser in nuclear power plant

, 2023
Kaili Xu, Shuhang Yan, Chang Gao, Tianqi He   +3 more
openalex   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source