Results 141 to 150 of about 188,720 (256)

Frameshift and Copy Number Variants in <i>SACS</i>-Related Neuropathy. [PDF]

Neurol Genet
Yuan JH, Higuchi Y, Ando M, Hiramatsu Y, Yoshimura A, Hobara T, Kojima F, Nakamura T, Sakiyama Y, Nozuma S, Ohyama S, Mitsui J, Tsuji S, Takashima H.   +13 more
europepmc   +1 more source

Aquaporin‐3 and aquaporin‐5 impact the development of pancreatic ductal adenocarcinoma spheroids

FEBS Open Bio, EarlyView.
Schematic representation of the role of aquaporin‐3 (AQP3) and aquaporin‐5 (AQP5) in pancreatic ductal adenocarcinoma (PDAC). Both proteins are upregulated in PDAC and are associated with tumor progression and metastatic potential. Silencing AQP3 or AQP5 in PDAC spheroids results in decreased diameter, area, and overall growth, underscoring their key ...
Catarina Pimpão, Diogo M. Engrácia, Graça Soveral, Filipa Mendes   +3 more
wiley   +1 more source

The interplay between genomic copy number variants, sleep, and cognition in the general population. [PDF]

Transl Psychiatry
Poulain C, Tesfaye R, Douard E, Martineau JL, Saci Z, Labbe A, Glahn DC, Almasy L, Elsabbagh M, Huguet G, Jacquemont S.   +10 more
europepmc   +2 more sources

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source

Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank. [PDF]

Am J Hum Genet
Katzourou IK, LINC consortium, Barroso I, Clayton J, Khandaker G, Stow D, Timpson N, Tsang R, Underwood J, Wood M, Kirov G, Walters J, Owen MJ, Holmans P, van den Bree MBM.   +14 more
europepmc   +1 more source

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

FEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard, Emma‐Jayne Proctor, Jiawa Wang, Nikolas P. Johnston, Andrew Hayes, Georgia McCorkell, Haibo Yu, Jai Tree, Mark R. Davies, Mark J. Walker, Ronald Sluyter, Stephan Brouwer, Martina L. Sanderson‐Smith   +12 more
wiley   +1 more source

Common on “Prenatal diagnosis of a de novo 16p11.2 microduplication of 16p11.2 BP4-5 copy number variants in a fetus with apparently normal phenotype”

Taiwanese Journal of Obstetrics & Gynecology
Jiaxuan Tan, Hongmei Shen
doaj   +1 more source

Childhood ADHD and autism spectrum disorder difficulties: exploring the impact of copy number variants on young adult outcomes. [PDF]

BJPsych Open
Dennison CA, Flanagan M, Shakeshaft A, Tilling K, Riglin L, Thapar A.   +5 more
europepmc   +1 more source

Transcripts enriched in codons that trigger P‐site tRNA‐mediated mRNA decay possess stable mRNA

FEBS Open Bio, EarlyView.
PTMD codons were first described by Mendel et al. as mediators of an mRNA decay pathway dependent on the human protein CNOT3, homologous to yeast Not5. Our findings confirm that PTMD codons destabilize transcripts; however, unlike in yeast, the human pathway specifically targets and slightly destabilizes primarily stable mRNAs.
Rodolfo Lopes Carneiro, Fernando Lucas Palhano   +1 more
wiley   +1 more source

MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays. [PDF]

Bioinformatics
Ivankovic F, Yu D, Shen J, Zhan L, Niarchou M, Kaylor A, Domènech L, Miller-Fleming TW, Porras LM, Giusti-Rodríguez P, Ophoff RA, Scharf JM, Mathews CA.   +12 more
europepmc   +1 more source