Results 191 to 200 of about 83,409 (265)

The Art and Science of Genetic Counseling in Nephrology. [PDF]

Kidney360
Bogyo K, Vena N, Milo Rasouly H.
europepmc   +1 more source

Accurate and noninvasive prostate cancer detection using plasma‐derived extracellular vesicle RNA

FEBS Open Bio, EarlyView.
Plasma extracellular vesicles were captured with WGA‐conjugated magnetic beads and profiled for RNA biomarkers. A three‐RNA panel (NM_024955, NR_047469, and NR_002564) distinguished prostate cancer from healthy controls and benign prostatic hyperplasia, supporting a simple, noninvasive approach to improve prostate cancer detection.
Hanping Wei, Haoran Wu, Wei Feng
wiley   +1 more source

Online Genetic Counseling as a Solution for Unmet Needs in Genetic Medicine: The First Survey in Japan. [PDF]

JMA J
Murakami H, Inoue S, Fujinami K, Matsunaga T, Yamazawa K.   +4 more
europepmc   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Educational videos in genetic counseling: Meeting patients where they are? [PDF]

Genet Med Open
Mahal J, Mayer CJ, Sailer S, Wittenberg-Marangione M, Tecklenburg J, Doll ES, Staatz E, Lerch SP, Wallaschek H, Schaaf CP, Ditzen B.   +10 more
europepmc   +1 more source

Structural studies and functional engineering of NanX: an anhydro‐sialic acid transporter from Escherichia coli

FEBS Open Bio, EarlyView.
Biophysical characterisation shows that NanX, a membrane transport protein from the major facilitator superfamily (MFS), forms both monomers and dimers after purification. AlphaFold modelling and substrate docking provide information on residues likely involved in substrate recognition for NanX and another MFS member, NanT.
Michael C. Newton‐Vesty, Kelsi R. Hall, Zachary D. Tillett, Liam S. Turk, James S. Davies, Michael J. Currie, Hamish G. Brown, Sepideh Valimehr, Peter D. Mace, Andrew E. Whitten, Santosh Panjikar, Eric Hanssen, Rachel A. North, Renwick C.J. Dobson   +13 more
wiley   +1 more source

Addressing family communication in genetic counseling: A scoping review of process studies. [PDF]

J Genet Couns
Barbosa M, Paneque M, Fontoura Dias S, Júlio F, Sequeiros J, Sousa L, Clarke A, Metcalfe A, Sales CMD, Mendes Á.   +9 more
europepmc   +1 more source

In silico and in vitro exploration of a tyrosinase for biocatalytic production of catechols

FEBS Open Bio, EarlyView.
Tyrosinase from Ralstonia pseudosolanacearum is a promising biocatalyst for producing valuable catechols from monophenol substrates. This tyrosinase is uniquely suited to this due to its high monophenolase : diphenolase ratio. We combined in silico docking and in vivo kinetic characterisation of this tyrosinase with 11 industrially relevant monophenols,
James Britton, Fang Zhao, Reeta Davis, Meg Walsh, Kevin E O'Connor, David O'Connell, Tanja Narancic   +6 more
wiley   +1 more source

Using mixed methods for genetic counseling research. [PDF]

J Genet Couns
Borle K, Austin JJ.
europepmc   +1 more source

Research methodologies in genetic counseling: Grounded theory. [PDF]

J Genet Couns
Fishler Malone K, Carmichael N.
europepmc   +1 more source