Results 201 to 210 of about 3,482,680 (357)

Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America. [PDF]

Alzheimers Dement
Jiménez DA, Bagnati PM, Flores-Montes RE, Fernández ML, Zuno-Reyes A, Aguillon D, Alaez-Verson C, Becerra-Solano LE, Behrens MI, Branda K, Chrem P, Custodio N, Ducaine W, Dumois-Petersen S, Figuera L, Castaño ML, Longoria EM, Matute E, Sánchez V, Slachevsky A, Sosa AL, Surace E, Takada L, Yaeger L, Ziegemeier E, Guerra JJL, Programa de asesoramiento genético en América Latina (PRAGA).   +26 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

Germline testing, access to genetic counseling, and treatment implications in advanced breast cancer. [PDF]

Ann Med Surg (Lond)
Qurat Ul Ain H, Imam W, Junaid Tahir M, Abbasher Hussien Mohamed Ahmed K.   +3 more
europepmc   +1 more source

Directed evolution of enzymes at the crossroads of tradition and innovation

FEBS Open Bio, EarlyView.
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova, Andrej Mirossay, Erik Sedlak   +2 more
wiley   +1 more source

Exploring the principles of logotherapy in genetic counseling: Enhancing decision-making, adaptation, and justice. [PDF]

J Genet Couns
Chanouha N, Chassevent A, Macnamara EF, Schaa K, Thoeny R, Tansey J.   +5 more
europepmc   +1 more source

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

Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns. [PDF]

Case Rep Genet
Iacono LM, Levy PA, Baer TG.
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

The state of genetic counseling supervision worldwide: Challenges, practices, and pathways for the future. [PDF]

J Genet Couns
Guimarães L, Ribeiro B, Henriques MR, Lemos MS, Paneque M.   +4 more
europepmc   +1 more source

Hyperosmotic stress‐induced redistribution of pre‐mRNA cleavage factor I subunits is associated with shifts in alternative polyadenylation

FEBS Open Bio, EarlyView.
Hyperosmotic stress triggers the relocation of the CFIm complex from the nucleus to the cytoplasm. This shift creates a nuclear ‘stoichiometric bottleneck’, limiting CFIm availability for mRNA processing. Consequently, specific mRNAs like NUDT21 and DICER1 undergo targeted 3′UTR shortening, demonstrating how spatial protein dynamics drive rapid ...
Hitomi Soumiya, Masatake Osawa, Hidefumi Fukumitsu   +2 more
wiley   +1 more source