Results 71 to 80 of about 1,791,159 (252)

An Artificially Selected Cytokinin‐Pathway Transcription Factor Balances Soybean Yield and Pathogen Resistance

open access: yesAdvanced Science, EarlyView.
A cytokinin pathway transcription factor, RR2b, was artificially selected during soybean domestication and improvement based on its differential transcriptional activity, which correlates with ATT repeat polymorphisms in its promoter. RR2b balances yield and defense by fine‐tuning its expression level and offers a promising target for decoupling trade ...
Qun Ma   +11 more
wiley   +1 more source

Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing

open access: yesBMC Genomics
Background Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD. Exonic duplications are a common type of pathogenic variants in the DMD gene, however, 5’ end exonic duplications containing exon 1
Jiandong Shen   +10 more
doaj   +1 more source

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

open access: yesAdvanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song   +9 more
wiley   +1 more source

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

open access: yesFrontiers in Genetics
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Fengjiao Pan   +14 more
doaj   +1 more source

Exome wide variant discovery by next generation dna sequencing in Vechur cattle of Kerala [PDF]

open access: yesJournal of Veterinary and Animal Sciences, 2020
Vechur, the native cattle breed of Kerala, India is well-known for economically valuable phenotypic traits like disease resistance, adaptability to hot and humid tropical climatic conditions, low feed requirements and high quality milk. However, genomic
R. S. Reshma   +4 more
doaj  

Association of an Intronic, but not any Exonic, FRMD4B Sequence Variant and Heart Failure

open access: yesClinical and Translational Science, 2010
Common forms of heart failure (HF) exhibit familial clustering, but specific genetic risk factors have been challenging to identify. A recent single‐nucleotide polymorphism (SNP) microarray study implicated a locus within an intron of FRMD4B in Caucasian
S. Matkovich   +3 more
semanticscholar   +1 more source

ZBTB18 Dysfunction Promotes Neuropathic Pain via CHD4‐based Epigenetic Disinhibition of CLIC1 Channels in Sensory Neurons

open access: yesAdvanced Science, EarlyView.
In this study, we identify a novel functional role of ZBTB18 in regulating trigeminal‐mediated neuropathic pain. Nerve injury reduces ZBTB18 in trigeminal ganglion neurons, impairing CHD4/NuRD recruitment and de‐repressing Clic1. Elevated CLIC1 enhances chloride channel activity and neuronal hyperexcitability, thereby driving pain.
Shoupeng Wang   +11 more
wiley   +1 more source

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

open access: yesFrontiers in Genetics
BackgroundCystic fibrosis (CF) is a common monogenic multisystem disease caused primarily by variants in the CFTR gene. Emerging evidence suggests that some variants, which are described as missense, synonymous or nonsense variants in the literature or ...
Bingying Zhang   +9 more
doaj   +1 more source

NSUN2‐Mediated m5C Modification of TGFB1 in Trophoblasts Remodels Macrophage Function to Prevent URSA

open access: yesAdvanced Science, EarlyView.
NSUN2 and m5C decline in URSA villous tissues. Trophoblast Nsun2 ablation disrupts macrophage‐mediated maternal‐fetal tolerance and triggers embryo resorption. Mechanistically, NSUN2‐YBX1 axis stabilizes m5C‐modified TGFB1 mRNA to maintain TGF‐β1 secretion and M2 polarization, and restoring this signaling rescues maternal‐fetal immune tolerance to ...
Xiaoxiao Zhu   +10 more
wiley   +1 more source

SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

open access: yesClinics, 2020
OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics.
A. Lerário   +13 more
semanticscholar   +1 more source

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