Results 141 to 150 of about 23,484 (271)

cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data

open access: yesAdvanced Science, EarlyView.
cuteHap is a haplotype‐aware structural variant detection method designed for phased long‐read sequencing. By employing self‐adaptive clustering and credibility‐prioritized beam search algorithms, cuteHap generates accurate haplotype‐resolved calls and outperforms state‐of‐the‐art tools.
Shuqi Cao   +7 more
wiley   +1 more source

Microglial GPR35 Ameliorates Epileptogenesis and Neuroinflammation via PDGFA Domain 2 Signaling

open access: yesAdvanced Science, EarlyView.
Activation of microglial G protein–coupled receptor 35 (GPR35) by L‐kynurenic acid (L‐Kyna) initiates a platelet‐derived growth factor A (PDGFA)–dependent phosphoinositide 3‐kinase–protein kinase B (PI3K–AKT) signaling cascade that dampens hippocampal neuroinflammation, thereby restraining epileptogenesis, lowering seizure susceptibility, and ...
Qi Wang   +17 more
wiley   +1 more source

Inactivation Rap2a in Endothelial Cell Prevents Pulmonary Fibrosis by Regulating Immune Microenvironment Through MAP4K4‐VCAM1 Signaling

open access: yesAdvanced Science, EarlyView.
We identified the endothelial RAP2A as a regulator of inflammatory endothelial activation in experimental lung fibrosis and suggest that targeting RAP2A‐mediated signaling may represent a potential strategy to modulate endothelial–immune crosstalk during fibrotic lung injury.
Xiaolan Zheng   +13 more
wiley   +1 more source

Long Non-Coding RNAs Gene Variants as Molecular Markers for Diabetic Retinopathy Risk and Response to Anti-VEGF Therapy

open access: yesPharmacogenomics and Personalized Medicine, 2021
Hala MF Mohammad,1,2 Ahmed A Abdelghany,3 Essam Al Ageeli,4 Shahad W Kattan,5 Ranya Hassan,6 Eman A Toraih,7,8 Manal S Fawzy,9,10 Naglaa Mokhtar10,11 1Department of Clinical Pharmacology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt ...
Mohammad HMF   +7 more
doaj  

Genetics of Non-Syndromic Autosomal Recessive Mental Retardation [PDF]

open access: yes, 2013
Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more
Afroze, Bushra, Chaudhry, Bushra
core   +1 more source

A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long‐Read Data

open access: yesAdvanced Science, EarlyView.
SpecImmune introduces a unified computational framework optimized for long‐read sequencing to resolve over 400 highly polymorphic immune genes. This scalable approach achieves high‐resolution typing, enabling the discovery of cross‐family co‐evolutionary networks and population‐specific diversity.
Shuai Wang   +5 more
wiley   +1 more source

Genetic characterisation of the Nero d’Aspromonte pig population in Southern Italy

open access: yesItalian Journal of Animal Science
The aim of this study was to investigate the genomic diversity of the Nero d’Aspromonte (NA) pig population. NA is a subpopulation derived from the Apulo Calabrese (AC) breed that has been reared in total isolation within the Polsi area of Aspromonte ...
Ervin Shishmani   +8 more
doaj   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

open access: yesAdvanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling   +17 more
wiley   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

open access: yesAdvanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren   +6 more
wiley   +1 more source

Boron deficiency responses in maize (Zea mays L.) roots

open access: yesJournal of Plant Nutrition and Soil Science, EarlyView., 2023
Abstract Background Boron (B) is an essential micronutrient for plants. Dicot plants respond to insufficient B supply by altering root architecture and root hair growth. How root systems of rather low‐B demanding monocot species such as maize (Zea mays L.) respond to B deficiency in terra has not been experimentally resolved, yet.
Manuela Désirée Bienert   +5 more
wiley   +1 more source

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