Results 151 to 160 of about 29,886 (297)

Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia

Journal of Diabetes Investigation
Aims HNF1B syndrome is caused by defects in the hepatocyte nuclear factor 1B (HNF1B) gene, which leads to maturity‐onset diabetes of the young type 5 and congenital organ malformations.
Yanfei Wang, Xiaoyu Xiao, Qiuqiu Lin, Rong Song, Xiaozhou Wang, Yiji Liang, Jingsong Chen, Xiaojun Luan, Zhiguang Zhou, Yang Xiao, Yaoming Xue, Jingyi Hu   +11 more
doaj   +1 more source

Decoding temporal miRNA signatures of semen under in vitro exposure for forensic time since deposition estimation using machine learning‐driven modeling

Interdisciplinary Medicine, EarlyView.
This study develops a novel miRNA‐based framework for estimating the time since deposition of semen stains, combining small RNA sequencing with machine learning. Time‐dependent miRNA modules were identified using Mfuzz clustering and WGCNA, followed by a multi‐stage feature selection pipeline that reduced 261 candidate miRNAs to a minimal 7‐miRNA panel.
Meiming Cai, Qiong Lan, Tong Xie, Qinglin Liu, Ming Zhao, Xiaolian Wu, Xin Shi, Ruonan Shen, Yiman Wu, Chen Mao, Bin Cong, Bofeng Zhu   +11 more
wiley   +1 more source

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours

Journal of Clinical Laboratory Analysis, EarlyView.
RNA‐based fusion panels using targeted next‐generation sequencing of formalin‐fixed paraffin‐embedded (FFPE) tumour tissue specimens have been used for a few years from patients with various tumour types to detect rearrangements/fusions. Using the bioinformatic approaches the data obtained from RNA sequencing (RNAseq) can also be used for small ...
Pranav Dorwal, Julie Robin, Broden Krause, Patricia Pyrchla, Bin Yuan, Robert Quach, Anna Fong Na Goh, Pamela Htain, Noel Djitro, Amit Kumar, Liyan Song, Priscillia Siswara, Suzanne Svobodova, Peter Kaub, Beena Kumar   +14 more
wiley   +1 more source

Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method. [PDF]

Biomed Res Int, 2020
Maran S, Faten SA, Lim SE, Lai KS, Ibrahim WPW, Ankathil R, Gan SH, Tan HL.   +7 more
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

Veronica paczoskiana is no more than a pine forest ecotype of V. spicata that evolved independently in forest‐steppes of Ukraine and the Altai region

Nordic Journal of Botany, EarlyView.
The Eurasian steppe area has been a dynamic vegetation biome during the Pleistocene with its repeated cycles of forest advances and retreats. Such a scenario allows the evolution of ecotypes at the ecotone with the potential for parallel evolution in different parts of the distribution area.
Dirk C. Albach, Gulzar Khan, Zoya M. Tsymbalyuk, Lyudmila M. Nitsenko, Sergei L. Mosyakin   +4 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Multiplex Ligation-Dependent Probe Amplification for Simultaneous Identification of Bungarus multicinctus and Its Common Adulterants in a Single Assay. [PDF]

Front Pharmacol, 2020
Zhou Y, Nie J, Yu S, Hu Z, Wang B.
europepmc   +1 more source

Spatial transcriptomics in epilepsy research: Early successes, opportunities, and challenges

Epilepsia, EarlyView.
Donald J. Phillips, Autumn S. Ivy, Samuel Guzman, Saman Hazany, Xiangmin Xu   +4 more
wiley   +1 more source