Results 91 to 100 of about 73,228 (270)

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy.

PLoS ONE, 2012
Heparin binding epidermal growth factor (HBEGF) is expressed in podocytes and was shown to play a role in glomerular physiology. MicroRNA binding sites on the 3'UTR of HBEGF were predicted using miRWalk algorithm and followed by DNA sequencing in 103 ...
Gregory Papagregoriou, Kamil Erguler, Harsh Dweep, Konstantinos Voskarides, Panayiota Koupepidou, Yiannis Athanasiou, Alkis Pierides, Norbert Gretz, Kyriacos N Felekkis, Constantinos Deltas   +9 more
doaj   +1 more source

HIDF: Integrating Tree‐Structured scRNA‐seq Heterogeneity for Hierarchical Deconvolution of Spatial Transcriptomics

Advanced Science, EarlyView.
The prevailing neglect of cellular hierarchies in current spatial transcriptomics deconvolution often obscures cellular heterogeneity and impedes the identification of fine‐grained subtypes. To address this issue, HIDF employs a cluster‐tree and dual regularization to systematically model cellular hierarchical structures.
Zhiyi Zou, Yuting Bai, Bo Wang, Wanwan Shi, Xiao Liang, Jiawei Luo   +5 more
wiley   +1 more source

Phylogenetic identification of lateral genetic transfer events

BMC Evolutionary Biology, 2006
Background Lateral genetic transfer can lead to disagreements among phylogenetic trees comprising sequences from the same set of taxa. Where topological discordance is thought to have arisen through genetic transfer events, tree comparisons can be used ...
Hamilton Nicholas, Beiko Robert G
doaj   +1 more source

Highly Secure In Vivo DNA Data Storage Driven by Genomic Dynamics

Advanced Science, EarlyView.
Integrated computational‐biological programming enables secure in vivo data storage by generating code tables from either genomes or gene regulatory networks, expanding the encryption key space by over 100 orders of magnitude. Storing code tables within synthetic genes, genomes, or gene regulatory networks adds an additional layer of security by ...
Jiaxin Xu, Yu Wang, Haibo Zhou, Mingen Li, Yang Wang, Lingwei Wang, Hui Mei, Junbiao Dai, Shanze Chen, Xiaoluo Huang   +9 more
wiley   +1 more source

Guided-Mutation Genetic Algorithm for Mobile IoT Network Relay

IEEE Access
The Internet of Things (IoT) is a communication scheme which allows various objects to exchange several types of information, enabling functions such as home automation, production management, healthcare, etc.
Gyupil Kam, Kiseop Chung
doaj   +1 more source

Autophagy Activators Normalize Aberrant Tau Proteostasis and Rescue Synapses in Human Familial Alzheimer's Disease iPSC‐Derived Cortical Organoids

Advanced Science, EarlyView.
A new cerebrocortical organoid model using isogenic hiPSCs with familial Alzheimer's mutations recapitulates key AD features, including amyloid‐beta and phospho‐Tau aggregation, neuronal hyperexcitability, and synapse loss. Single‐cell RNA‐seq reveals aberrant pathways in excitatory and inhibitory neurons.
Sergio R. Labra, Jadon Compher, Akhil Prabhavalkar, Mireya Almaraz, Claudia Cedeño Kwong, Christine Baal, Maria Talantova, Nima Dolatabadi, Julian Piña‐Sanz, Yubo Wang, Leonard Yoon, Swagata Ghatak, Zi Gao, Yuting Zhang, Dorit Trudler, Lynee Massey, Wei Lin, Anthony Balistreri, Michael Bula, Nicholas J. Schork, Tony S. Mondala, Steven R. Head, Jeffery W. Kelly, Stuart A. Lipton   +23 more
wiley   +1 more source

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next studyResearch in context

EBioMedicine
Summary: Background: Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants.
Chrysanthi Kouri, Idoia Martinez de Lapiscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay-Sara Sauter, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, S. Faisal Ahmed, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Hedi L. Claahsen - van der Grinten, Martine Cools, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia- Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Ieuan Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar L’Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, LIoyd J.W. Tack, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska   +73 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Genetic basis of primary immunodeficiencies. Combined immunodeficiencies (review)

Каразінський імунологічний журнал
Background. Primary immunodeficiencies are a large and heterogeneous group of hereditary disorders characterized by disorders in the development, functioning or regulation of the immune system.
L.V. Bieliaieva, K.V. Vovk, L.L. Sherstiuk, O.O. Vlasenko   +3 more
doaj   +1 more source

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

BMC Medical Genetics, 2017
Background Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign.
Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato   +5 more
doaj   +1 more source