Results 121 to 130 of about 12,984 (193)

Harnessing edge computing and citizen science: A new prototype design for continental‐scale acoustic monitoring in Australia and beyond

Methods in Ecology and Evolution, Volume 17, Issue 8, Page 2295-2308, August 2026.
Abstract Inadequate monitoring of biodiversity is a characteristic of conservation the world over. The potential of acoustic monitoring is compelling, although the challenges remain substantial. Effective solutions require transdisciplinary collaboration among stakeholders, a focus on open‐source development, and flexible, multipronged technical ...
Andrea S. Griffin, Oliver Kelly, Eric Johns, Stephan Chalup, Alex Callen, Darren Southwell, Matt W. Hayward, Ysobel Sims   +7 more
wiley   +1 more source

Progerin Hinders Autophagy Flux at Its Final Stages in Hutchinson‐Gilford Progeria Syndrome Cells, Preventing Its Own Autophagic Degradation

Aging Cell, Volume 25, Issue 8, August 2026.
We demonstrated that progerin induces the formation of autophagosomes but impairs their maturation and subsequent fusion with lysosomes. Progerin impedes proper autophagy flux, thus preventing its own autophagic degradation. Selinexor treatment improved both autophagosome maturation and autophagosome‐lysosome fusion, which ultimately led to effective ...
Ian García‐Aguirre, Jesús Alejandro Reyes‐Martínez, Juan Unzueta, Francisco Guevara‐Namorado, Solangy Lizcano‐Meneses, Susana Gonzalo, Angel Baldan, Claudia Rangel, Gerardo J. Alanis‐Funes, Francisco Garcia‐Sierra, Kevin Ruiz‐Fajardo, Simon Gormes‐Pinchanski, Susana Castro‐Obregón, Aranza Meza‐Dorantes, Rocio Alejandra Chavez‐Santoscoy, Isabel Arrieta‐Cruz, Paola Tristán‐Aburto, Jonathan J. Magaña, Bulmaro Cisneros   +18 more
wiley   +1 more source

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

BMC Medical Genomics
Exome and genome sequencing have greatly improved the diagnosis of rare genetic disorders but remain limited in their ability to identify and classify non-coding variants, including intronic variants, cryptic splice-site alterations, and disruptions in ...
Robert G. Lewis, John M. O’Shea, Lucilla Pizzo, Ting Wen, Makenzie L. Fulmer, Jian Zhao, Jan Verheijen, Chaofan Zhang, Matt Velinder, Thomas J. Nicholas, Steven E. Boyden, Alistair Ward, Erin E. Baldwin, Ashley Andrews, Joselin Hernandez Ruiz, Marco Marchetti, David Viskochil, John C. Carey, Steven B. Bleyl, Russell J. Butterfield, Vanina Taliercio, Lorenzo D. Botto, Rong Mao, Pinar Bayrak-Toydemir, Undiagnosed Diseases Network   +24 more
doaj   +1 more source

Targeting RANKL Prevents Bone Loss, Improves Muscle Function and Extends Lifespan in Progeroid Mice

Aging Cell, Volume 25, Issue 8, August 2026.
Targeting of RANKL by genetic and pharmacological approaches ameliorates key features of the progeroid phenotype in Zmpste24−/− mice. RANKL intervention restores bone mass, improves muscle phenotype, and extends survival. These findings support further exploration of RANKL‐targeted therapies for Hutchinson‐Gilford progeria syndrome.
Sandra Freitas‐Rodríguez, Alejandra Valle‐Cao, Francisco Rodríguez, Manuel Fernández‐Sanjurjo, Benjamín Fernández‐García, Vanessa Loredo, María Teresa Fernández‐García, Carmen Fiuza‐Luces, Alejandro Lucia, Carlos López‐Otín, Alejandro López‐Soto, Alicia R. Folgueras   +11 more
wiley   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Beyond Sequence: Posttranslational Remodeling of Antigens in Autoimmunity

Immunological Reviews, Volume 341, Issue 1, August 2026.
ABSTRACT Autoimmune responses are often attributed to failed tolerance to self‐proteins, yet protein expression alone cannot explain why certain antigens dominate disease, why autoreactivity emerges under stress, or why specific HLA alleles shape risk.
Cynthiya Shrestha, Holly M. Weisfelder, Thanh D. Do   +2 more
wiley   +1 more source

Application of Computational Methods to Study the Selection of Authentic and Cryptic Splice Sites

, 2019
Proteins are building blocks of the bodies of eukaryotes, and the process of synthesizing proteins from DNA is crucial for the good health of an organism [13]. However, some mutations in the DNA may disrupt the selection of 5’ or 3’ splice sites by a spliceosome.
openaire   +2 more sources

Etymology and entomology: The semiotics and ethics of multispecies gene nomenclatures

Journal of Linguistic Anthropology, Volume 36, Issue 2, August 2026.
Abstract This article examines controversies surrounding gene names that are perceived as humorous in the context of fruit flies but are considered rude in the clinical context of human medicine. Drawing on ethnographic fieldwork in insect laboratories, interviews with entomologists and geneticists, and an analysis of scientific and clinical ...
Colin M. E. Halverson
wiley   +1 more source

Two Secondary Introductions From a Shared Bridgehead Population Show Evidence of Divergent and Parallel Selection

Molecular Ecology, Volume 35, Issue 15, August 2026.
ABSTRACT Biological invasions offer large‐scale experiments for examining rapid evolution and testing the predictability of adaptive change. Assessing the repeatability of such adaptive responses, however, requires replicated introductions that share similar demographic and environmental contexts. Single introduction events are common during biological
Adi Nugroho, Sebastien Comte, Patrick Barrière, Robert B. Allen, William B. Sherwin, Lee A. Rollins   +5 more
wiley   +1 more source

Muir–Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole‐Genome Sequencing: A Case Report

Pathology International, Volume 76, Issue 8, August 2026.
Pathological suspicion persisted despite negative multigene panel testing in a patient with synchronous sebaceous and colonic tumors showing concordant MSH2/MSH6 loss. Whole‐genome sequencing identified a cryptic intronic MSH2 variant (c.2459‐12A>G), and RNA analysis confirmed aberrant splicing with protein truncation. This case highlights the value of
Keisuke Noda, Hirokazu Kurohama, Katsuya Matsuda, Akira Kinoshita, Hiroyuki Mishima, Megumi Matsumoto, Riko Matsuda, Nozomi Ueki, Masao Kishikawa, Kiyonori Miura, Takashi Nonaka, Koh‐ichiro Yoshiura, Keitaro Matsumoto, Masahiro Nakashima   +13 more
wiley   +1 more source