Results 141 to 150 of about 1,948,626 (333)

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

A Scoping Review of Clinical Decision Support Tool Implementation for Reducing Inappropriate Genetic Testing at a Tertiary Hospital in East Africa

, 2023
Juma Mwambene, Amina Mwinyi, Neema Khamis   +2 more
openalex   +1 more source

P-228 Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders [PDF]

, 2023
Noemi Castelluccio, Ramesh Reddy Guggilla, Andreï Rybouchkin, Dominic Stoop, Sofie Symoens, Paul Coucke, Annekatrien Boel, Björn Heindryckx   +7 more
openalex   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Supplementary Material for: Relative Efficiency of Trend Tests with Misspecified Genetic Models in Stratified Analyses of Case-Control or Cohort Data

, 2011
Colleen M. Sitlani, Barbara McKnight
openalex   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

The Development and Testing of Machine Learning Applications into Genetically-Based Disease Detection

, 2022
Aditya Mittal, Kuan-Chen Wu
openalex   +2 more sources

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Genetic analysis is valuable for diagnostic testing for carrier status with hemophilia

, 2015
Keiko Shinozawa
openalex   +2 more sources

The Role of Medical Technologists in Next-Generation Sequencing and Clinical Genetic Tests

, 2023
Hyun‐Seok Jin, Sangjung Park, Mi-Sook AHN, S.E. Park   +3 more
openalex   +1 more source