Results 181 to 190 of about 7,798,465 (289)

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +1 more source

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

Polygenic risk scores (PRS) in society. Healthcare providers and researchers' views on the public health and socio-cultural implications of PRS in healthcare contexts. [PDF]

J Community Genet
Andreoli L, Peeters H, Van Steen K, Dierickx K.   +3 more
europepmc   +1 more source

diveRsity: An R package for the estimation and exploration of population genetics parameters and their associated errors

, 2013
K. Keenan, P. McGinnity, T. Cross, W. Crozier, P. Prodöhl   +4 more
semanticscholar   +1 more source

Molecular dynamics simulations of positively selected codons in FcγRI reveal novel biochemical binding properties

FEBS Open Bio, EarlyView.
Evolutionary analysis across 32 placental mammals identified positive selection at residues H148 and W149 in the immune receptor FcγR1. Ancestral reconstruction combined with molecular dynamics simulations reveals how these mutations may influence receptor structure and dynamics, providing insight into the evolution of antibody recognition and immune ...
David A. Young, Omar Arias‐Gaguancela, Fiona Gibson, Morgan Grainger, Jodie Score, Amit Nathubhai, Mauricio Cafiero, Lee Richard Machado   +7 more
wiley   +1 more source

Later age of natural menopause among women with the pathogenic <i>CHEK2</i> c.1100delC variant: a validation study. [PDF]

J Med Genet
Schreurs MAC, Hollestelle A, Adank MA, Louwers Y, van Asperen CJ, Ausems MGEM, van de Beek I, Collee MJ, Dommering CJ, Gómez García EB, Wevers MR, Vieveen EM, Yigit R, Schmidt MK, Visser JA, Hooning MJ, Hebon.   +16 more
europepmc   +1 more source

Multidimensional nonlinear di u-sion arising in population genetics

, 1978
D. Aronson, H. Weinberger
semanticscholar   +1 more source

Pharmacological inhibition of the PERK pathway modulates hepatocellular carcinoma growth and immune signaling

FEBS Open Bio, EarlyView.
Pharmacological inhibition of PERK in a DEN‐induced mouse model of liver cancer does not reduce tumor burden but alters cellular stress signaling. Despite blocking PERK activity, downstream stress responses, including CHOP expression, remain active, suggesting compensatory mechanisms within the unfolded protein response that may influence tumor ...
Ada Lerma‐Clavero, Maria Kopsida, Nathalie Arendt, Hans Lennernäs, Markus Sjöblom, Femke Heindryckx   +5 more
wiley   +1 more source

PLINK: a tool set for whole-genome association and population-based linkage analyses.

American Journal of Human Genetics, 2007
S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M. Ferreira, David P Bender, J. Maller, P. Sklar, P. D. de Bakker, M. Daly, P. Sham   +10 more
semanticscholar   +1 more source

RoundMi: A quantitative method to analyze mitochondrial morphology in mitotic cells

FEBS Open Bio, EarlyView.
RoundMi is a workflow for rapid analysis of mitochondrial morphology in mitotic cells. By combining adaptive preprocessing with automated segmentation and quantification, it enables accurate measurements from single focal plane images, reducing acquisition time and computational demands while remaining compatible with high‐throughput fixed and live ...
Elmira Parvindokht Bararpour, Christine Volmert, Valentina Piano   +2 more
wiley   +1 more source