Results 81 to 90 of about 293,293 (239)

Comparative Single‐Cell Transcriptomic Atlas Reveals the Genetic Regulation of Reproductive Traits

open access: yesAdvanced Science, EarlyView.
A cross‐species single‐cell transcriptomic atlas of reproductive and central nervous system tissues from sheep and humans reveals conserved cellular programs and regulatory networks that regulated fertility. Integration with GWAS for sheep lifetime average litter size identifies UNC5–SLIT–BMP signaling as a core pathway coordinating neuroendocrine ...
Bingru Zhao   +8 more
wiley   +1 more source

Single‐Cell Mitochondrial Lineage Tracing Decodes Fate Decision and Spatial Clonal Architecture in Human Hematopoietic Organoids

open access: yesAdvanced Science, EarlyView.
This study repurposes mitochondrial DNA mutations as endogenous barcodes for lineage tracing in human pluripotent stem cell‐derived organoids. Integrated with transcriptomic and spatial data, it reveals NOTCH‐mediated stromal‐progenitor crosstalk orchestrates clonal dynamics and spatial zonation during early hematopoietic development, offering a non ...
Yan Xue   +17 more
wiley   +1 more source

Multi‐Tissue Genetic Regulation of RNA Editing in Pigs

open access: yesAdvanced Science, EarlyView.
This study presents the first multi‐tissue map of RNA editing and its genetic regulation in pigs. By integrating RNA editing profiles, edQTL mapping, GWAS, and cross‐species comparisons, this work establishes RNA editing as a distinct regulatory layer linking genetic variation to complex traits, highlighting its functional and evolutionary significance.
Xiangchun Pan   +21 more
wiley   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

open access: yesAdvanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu   +25 more
wiley   +1 more source

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

Diabetes Mellitus Facilitates Gallstone Formation Through CXCR2‐NETs–Mediated Liver‐Bile Barrier Damage

open access: yesAdvanced Science, EarlyView.
Diabetes is an independent risk factor for gallstones. It upregulates CXCR2 expression in hepatic neutrophils, stimulating the formation of NETs that disrupt hepatocellular tight junctions and the liver‐bile barrier. NETs enter bile to accelerate gallstone development, while sarcosine inhibits CXCR2 and NETs production, effectively reducing diabetes ...
Chao Shi   +10 more
wiley   +1 more source

Natural Variations of ZmRLR1 Mediate the Root Lodging Resistance of Maize by Regulating Root Ascorbate and Auxin Homeostasis

open access: yesAdvanced Science, EarlyView.
Root lodging severely limits crop yield and quality. We reveal that ZmRLR1, a plasma membrane b‐type cytochrome, regulates lodging resistance in maize through dual roles: modulating intracellular redox balance and functioning as a novel component of clathrin‐mediated endocytosis to influence auxin homeostasis. Moreover, natural variations in the ZmRLR1
Wenshuai Lv   +7 more
wiley   +1 more source

Novel surfactant C variant c.325–47_374del without response to hydroxychloroquine treatment

open access: yesRespiratory Medicine Case Reports
Pathogenic variants of SP-C, which cause various lung diseases with varying ages of onset, are inherited in an autosomal dominant manner or appear de novo as new mutations. We present a case of fatal respiratory failure in a female infant.
Simona Drobnakova   +6 more
doaj   +1 more source

16. správa Faunistickej komisie Slovenskej ornitologickej spoločnosti/BirdLife Slovensko / The 16th report of the Rarities Committee of the Slovak Ornithological Society/BirdLife Slovakia [PDF]

open access: yesTichodroma, 2016
In 2015, the Rarities Committee of the Slovak Ornithological Society/BirdLife Slovakia reviewed 64 records, of which 57 were accepted in the category A, 1 in category C, one record in category D, three records in category E and one breeding record. Two
Richard KVETKO   +1 more
doaj  

Pan‐3D Genome Analysis Reveals the Roles of Structural Variation in Chicken Chromatin Architectures, Domestication and Production Traits

open access: yesAdvanced Science, EarlyView.
This study firstly presents a comprehensive and high‐resolution pan‐3D genome resource in chicken. Our findings reveal the role of structural variations in 3D genome architectures, and how they influence the domestication process and production traits at the 3D genome level.
Zhen Zhou   +19 more
wiley   +1 more source

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