Results 91 to 100 of about 4,675,098 (246)

NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment

open access: yesAdvanced Science, EarlyView.
The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou   +6 more
wiley   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

open access: yesAdvanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee   +11 more
wiley   +1 more source

Sex chromosome evolution mediated by a large inversion and a possible switch of the sex determination gene

open access: yesGenome Biology
Background Sex chromosomes often evolve faster than autosomes and commonly degenerate after recombination arrest. However, the underlying evolutionary processes are under persistent debate. In particular, it is unclear whether or not recombination arrest
Xiaomeng Mao   +4 more
doaj   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

open access: yesAdvanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale   +23 more
wiley   +1 more source

Nrsn1–Smarcc1 Coupling Regulates Neural Stem Cell Differentiation and Chronic‐phase Recovery After Ischemic Stroke

open access: yesAdvanced Science, EarlyView.
In the post‐stroke brain, Foxa2 induces the transcriptional upregulation of Nrsn1 in NSCs. Nrsn1 functionally couples with Smarcc1, modulating its nuclear availability and protein abundance, thereby influencing Smarcc1‐associated regulatory programs linked to neuronal lineage commitment. Through this coupling, Nrsn1 promotes the differentiation of NSCs
Ruolin Zhang   +18 more
wiley   +1 more source

Chromosome-level genomes of Bruchinae reveal the rapid evolution of sex chromosomes and sex-biased genes in seed beetles

open access: yesGenomics Communications
Structural variations (SVs) provide a material basis for genomic evolution, which can influence gene expression and three-dimensional (3D) genome structure, and even alter complex chromosomal features through regional recombination, copy number variation,
Weiyao Chen   +9 more
doaj   +1 more source

Computational identification of Y-linked markers and genes in the grass carp genome by using a pool-and-sequence method

open access: yesScientific Reports, 2017
The molecular analysis of sex in vertebrates is important, as it has the potential to provide vital information for theoretical and applied research alike.
Aidi Zhang   +8 more
doaj   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

open access: yesAdvanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit   +10 more
wiley   +1 more source

Comparative cytogenetic analysis of marine Palaemon species reveals a X1X1X2X2/X1X2Y sex chromosome system in Palaemon elegans

open access: yesFrontiers in Zoology, 2017
Background The maintenance of species and the promotion of speciation are closely related to chromosomal rearrangements throughout evolution. Decapoda represents the most species-rich order among crustaceans and, despite its ecological and economic ...
Zeltia Torrecilla   +4 more
doaj   +1 more source

ERα–PADI4–CXCL8 Axis Drives MDSC‐Mediated Immune Evasion in Anaplastic Thyroid Carcinoma

open access: yesAdvanced Science, EarlyView.
MAPK‐driven ligand‐independent ERα activation drives PADI4 transcription and translation. This enzyme then modifies CXCL8 chemokines through citrullination, generating a potent chemoattractant gradient specifically for myeloid‐derived suppressor cells.
Dongdong Zhang   +5 more
wiley   +1 more source

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