Results 211 to 220 of about 44,698 (271)

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Expanding the diversity of bacterial DNA partitioning: A CTP-independent ParAB<i>S</i> system for plasmid partitioning in <i>Streptomyces</i>. [PDF]

Proc Natl Acad Sci U S A
Sukhoverkov KV, Balaguer-Perez F, Aicart-Ramos C, Tran NT, Maqbool A, Rejzek M, Chandra G, Moreno-Herrero F, Le TBK.   +8 more
europepmc   +1 more source

Exploring ocular fundus morphology in relation to growth in adolescents born moderate‐to‐late preterm

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study ocular fundus morphology and its relation to growth in adolescents born moderate‐to‐late preterm (MLP) and full term. Methods This prospective and population‐based cohort study included 50 MLP adolescents (26 girls, mean age 16.5 years) and 50 full‐term controls (30 girls, mean age 16.7 years).
Alexandra Lind, Sara Ali, Titus Ovik, Zoran Popovic, Eva Aring, Jovanna Dahlgren, Marita Andersson Grönlund   +6 more
wiley   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

Exploring Similarities and Differences Between Methods That Exploit Patterns of Local Genetic Correlation to Identify Shared Causal Loci Through Application to Genome-Wide Association Studies of Multiple Long Term Conditions. [PDF]

Genet Epidemiol
Darlay R, Shah RL, Dodds RM, Nair ATN, Pearson ER, Witham MD, Cordell HJ, ADMISSION Research Collaborative.   +7 more
europepmc   +1 more source

New reference genome assembly for the declining American Bumble Bee, Bombus pensylvanicus. [PDF]

G3 (Bethesda)
Lozier JD, Schweizer RM, Sim SB, Koch JBU, Branstetter MG, Benavides LR, Geib SM, Evans JD.   +7 more
europepmc   +1 more source

DysRegNet: Patient‐specific and confounder‐aware dysregulated network inference towards precision therapeutics

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Gene regulation is frequently altered in diseases in unique and patient‐specific ways. Hence, personalised strategies have been proposed to infer patient‐specific gene‐regulatory networks. However, existing methods do not scale well because they often require recomputing the entire network per sample.
Johannes Kersting, Olga Lazareva, Zakaria Louadi, Jan Baumbach, David B. Blumenthal, Markus List   +5 more
wiley   +1 more source

Simultaneous quantification of rDNA methylation and copy number: Constraints to natural variation in humans and cell lines. [PDF]

PLoS One
Smith SF, Lemos B.
europepmc   +1 more source

System level network data and models attack cancer drug resistance

British Journal of Pharmacology, EarlyView.
Drug resistance is responsible for >90% of cancer related deaths. Cancer drug resistance is a system level network phenomenon covering the entire cell. Small‐scale interactomes and signalling network models of drug resistance guide directed drug development.
Márk Kerestély, Dávid Keresztes, Levente Szarka, Borbála M. Kovács, Klára Schulc, Dániel V. Veres, Peter Csermely   +6 more
wiley   +1 more source

Chromosome-level genome assembly of the caddisfly Stenopsyche angustata (Insecta: Trichoptera). [PDF]

Sci Data
Wang Y, Liu X, Qin H, Zhong X, Li Y, Qin Y, Wu Y, Zhang Y, He Y, Li J, Wang H.   +10 more
europepmc   +1 more source