Results 61 to 70 of about 50,370 (253)

Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene

Stem Cell Research
Pathogenic variants in the phenylalanine hydroxylase (PAH) gene cause phenylketonuria (PKU), a disorder characterized by neurotoxicity and impaired postnatal cognitive development.
Yu Wang, Lisha An, Huimin Gao, Chuan Zhang, Lin Wang, Yanping Zhang, Lu Zhang, Yousheng Yan, Xiaohua Jin, Xu Ma   +9 more
doaj   +1 more source

Integrative Omics Analysis Reveals the Regulation of Hypoxia Tolerance in Large Yellow Croaker (Larimichthys crocea) via the Lipoic Acid Synthase (lias) Gene

Advanced Science, EarlyView.
Lipoic acid synthase (lias) can regulate α‐KG levels through lipoylation, thereby negatively regulating HIF‐1α protein levels via PHD under hypoixa. The Hap2 allele of lias exhibits lower expression levels than Hap1, leading to the accumulation of more HIF‐1α protein and thereby enhancing hypoxia tolerance. ABSTRACT Hypoxia stress seriously affects the
Jie Ding, Songpeng Jia, Ran Meng, Xuelei Wang, Xiongfei Wu, Weiliang Shen, Yibo Zhang, Junquan Zhu   +7 more
wiley   +1 more source

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome

Kidney International Reports
Introduction: X-linked Alport syndrome (XLAS) is a well-known monogenetic kidney disease caused by pathogenic variants in the COL4A5 gene. Routine analysis of exons and direct flanking regions fails to identify a pathogenic variant in 10% to 20% of ...
Dipti Rao, Bartholomeus T. van den Berge, Anneke T. Vulto-van Silfhout, Ilse M. Rood, Joanna A.E. van Wijk, Arend Bökenkamp, Layla Damen, Patrick Rump, Jasper J. van der Smagt, Jitske Jansen, Bart Smeets, Jack F. Wetzels, Rutger J. Maas, Michel van Geel   +13 more
doaj   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

A novel splice GCDH variant and analysis of splicing variants in glutaric aciduria type I

Egyptian Journal of Medical Human Genetics
Objectives Glutaric aciduria type I (GA-I) is an inborn error of metabolism caused by biallelic variants in the GCDH gene, disrupting lysine and tryptophan catabolism.
Nasrin Zamani, Mohammadi Sarband, Mirab Samiee, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh, Bahareh Rabbani   +6 more
doaj   +1 more source

UCtracker: A Deep Learning–Based DNA Methylation Model for Noninvasive Diagnosis and Recurrence Surveillance of Urothelial Carcinoma in a Prospective Study

Advanced Science, EarlyView.
We developed UCtracker, a urine DNA methylation–based deep learning model, for noninvasive diagnosis and postoperative surveillance of urothelial carcinoma. UCtracker demonstrates high diagnostic accuracy, robustness at ultralow sequencing depth, early recurrence detection, and dynamic risk‐stratified monitoring of molecular residual disease ...
Shengwei Xiong, Gaojie Li, Yucai Wu, Yuan Liang, Heng Guo, Yu Zhang, Gengyan Xiong, Long Tian, Xin Zhang, Ye Tian, Zhengguo Ji, Bin Guo, Yue Shi, Jian Fan, Zhihua Li, Yanqing Gong, Shiming He, Xuesong Li, Weimin Ci, Liqun Zhou   +19 more
wiley   +1 more source

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. [PDF]

PLoS ONE, 2012
Genetic variants responsible for susceptibility to obesity and its comorbidities among Hispanic children have not been identified. The VIVA LA FAMILIA Study was designed to genetically map childhood obesity and associated biological processes in the ...
Anthony G Comuzzie, Shelley A Cole, Sandra L Laston, V Saroja Voruganti, Karin Haack, Richard A Gibbs, Nancy F Butte   +6 more
doaj   +1 more source

Deltacoronavirus Modulates circRNA cGLIS3 Metabolism to Evade Host Antiviral Response

Advanced Science, EarlyView.
This study reveals that both deltacoronavirus nucleocapsid protein and host RNA binding protein IGF2BP2 promote circular RNA GLIS3 (cGLIS3) biogenesis by binding to GLIS3 pre‐mRNA. The m6A modification‐mediated cGLIS3‐IGF2BP2 interaction weakens RNase L‐mediated degradation of cGLIS3 while facilitates a ubiquitin‐dependent degradation of IGF2BP2, thus ...
Liuyang Du, Liping Wang, Sujing Diao, Juan Li, Lei Zhao, Yan Yan, Haimin Li, Weiren Dong, Wei Wu, Jinyan Gu, Jiyong Zhou   +10 more
wiley   +1 more source

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Annals of Clinical and Translational Neurology, 2020
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample.
Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol   +10 more
doaj   +1 more source