Results 41 to 50 of about 660,576 (241)

A single nucleotide polymorphism in exon 3 of the myostatin gene in different breeds of domestic pigeon (Columba livia var. domestica) 32

open access: yesVeterinární Medicína, 2013
Myostatin is considered to be one of the most powerful negative regulators of muscle growth. The lack of a functional myostatin or its mutation can result in uncommon musculature like "double-muscling" in Belgian Blue cattle.
A. Dybus   +3 more
doaj   +1 more source

A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis

open access: yes, 2016
Reported synonymous substitutions are generally non-pathogenic, and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion.
Ramos Amador, José Tomás   +3 more
core   +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

Fitness costs of synonymous mutations in the rpsT gene can be compensated by restoring mRNA base pairing. [PDF]

open access: yesPLoS ONE, 2013
We previously reported that the distribution of fitness effects for non-synonymous and synonymous mutations in Salmonella typhimurium ribosomal proteins S20 and L1 are similar, suggesting that fitness constraints are present at the level of mRNA. Here we
Peter A Lind, Dan I Andersson
doaj   +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

Fitness difference between two synonymous mutations of Phytophthora infestans ATP6 gene

open access: yesBMC Ecology and Evolution
Background Sequence variation produced by mutation provides the ultimate source of natural selection for species adaptation. Unlike nonsynonymous mutation, synonymous mutations are generally considered to be selectively neutral but accumulating evidence ...
Oswald Nkurikiyimfura   +8 more
doaj   +1 more source

An analysis of mutational signatures of synonymous mutations across 15 cancer types

open access: yesBMC Medical Genetics, 2019
Background Synonymous mutations have been identified to play important roles in cancer development, although they do not modify the protein sequences.
Yannan Bin   +4 more
doaj   +1 more source

Identification of the Membrane-Associated Transporter Protein (MATP) Gene Polymorphism as Candidate Mutation for Albinism in Japanese Quail

open access: yesJurnal Ilmu-Ilmu Peternakan, 2023
A pigmentation abnormality could be due to genetic mutation and trigger a disease related pigmentation deficiency such as albino which might be caused by mutation in membrane-associated transporter protein gene (MATP).
Laksita Haniifah Pratiwi   +2 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

Synonymous–non-synonymous mutation rates between sequences containing ambiguous nucleotides (Syn-SCAN)

open access: yes, 2002
Summary: Direct PCR sequencing on genetic material containing allelic mixtures results in sequences containing ambiguous nucleotides. Because codons exhibiting allelic mixtures present evidence of evolutionary pressure, it is important to include this ...
Jonathan M. Dugan   +2 more
core   +1 more source

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