Results 91 to 100 of about 1,974,376 (233)

Investigation of Polymorphisms in Coding Region of OsHKT1 in Relation to Salinity in Rice

open access: yesRice Science, 2016
Rice (Oryza sativa) is sensitive to salinity, but the salt tolerance level differs among cultivars, which might result from natural variations in the genes that are responsible for salt tolerance.
Pham Quynh-Hoa   +7 more
doaj   +1 more source

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

CA9‐Targeted PET Imaging for Noninvasive Discrimination of Clear Cell Renal Cell Carcinoma and Associated Tumor Biological Features

open access: yesAdvanced Science, EarlyView.
CA9‐targeted PET imaging could be a noninvasive approach to characterize clear cell renal cell carcinoma and associated tumor biology. PET uptake correlates with tumor CA9 expression and is linked to angiogenic activity, immune remodeling, and metabolic reprogramming.
Kailei Chen   +19 more
wiley   +1 more source

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients

open access: yesMolecular Genetics & Genomic Medicine
Background Ornithine transcarbamylase deficiency (OTCD, MIM#311250) is a rare X‐linked urea cycle disorder causing hyperammonemia. While around 600 pathogenic OTC variants have been reported, cryptic changes like synonymous or in‐frame variants remain ...
Qingming Wang   +5 more
doaj   +1 more source

Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing

open access: yesBioinformatics and Biology Insights, 2007
We performed high-throughput cDNA sequencing in colorectal adenocarcinoma and matching normal colorectal epithelium. All six hundred three genes in the UCSC database that were expressed in colon cancers and contained open reading frames of 1000 ...
Takatsugu Kan   +13 more
doaj   +1 more source

Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7

open access: yesAdvanced Science, EarlyView.
Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim   +16 more
wiley   +1 more source

Decoding the effects of synonymous variants in human genome

open access: yes, 2022
Synonymous single nucleotide variants (sSNVs), a common type of genomic variant, does not alter the protein sequence but can have a variety of functional impacts.

core   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

open access: yesAdvanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo   +17 more
wiley   +1 more source

Rare variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations

open access: yes, 2018
Many G protein-coupled receptors (GPCRs) lack common variants that lead to reproducible genome-wide disease associations. Here we used rare variant approaches to assess the disease associations of 85 orphan or understudied GPCRs in an unselected cohort ...
Ridge Dershem   +8 more
core   +1 more source

Herbicide Metabolic Resistance in Poaceae Plants via the GA‐GID1/DELLA‐DOF2‐P450s Module

open access: yesAdvanced Science, EarlyView.
Plant hormone signaling modulates herbicide resistance in Echinochloa crus‐galli. The GA–DELLA–DOF2 cascade directly activates P450 detoxification genes in two Poaceae species, uncovering a core mechanism of metabolic herbicide resistance. ABSTRACT Barnyard grass (Echinochloa crus‐galli) is one of the world's most important weeds, and the evolution of ...
Junzhi Wang   +6 more
wiley   +1 more source

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