Results 161 to 170 of about 548,182 (236)

Enfermedades genéticas más frecuentes en pacientes atendidos en consulta de genética clínica

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
La estimación de la prevalencia de las enfermedades genéticas se dificulta, entre otras causas, por su rareza. Se realizó un estudio descriptivo retrospectivo, para identificar las enfermedades genéticas de mayor prevalencia en pacientes atendidos por ...
Elibett Carcasés Carcasés, Nora María Orive Rodríguez, Lisset del Carmen Romero Portelles, Glenys Katiuska Silva González   +3 more
doaj  

Bioconversion of carotenoids into high‐value crocins using a marine sponge carotenoid cleavage dioxygenase

New Phytologist, Volume 250, Issue 5, Page 3230-3246, June 2026.
Summary Carotenoids and apocarotenoids are widespread specialized metabolites, yet animals, including sponges, lack the ability to synthesize carotenoids de novo and must obtain them from dietary or microbial sources. The roles of carotenoid cleavage dioxygenases (CCDs) in marine animals remain largely unexplored. A CCD from the marine sponge Suberites
Elena Moreno‐Giménez, Lucía Morote, Alberto José López Jiménez, Eduardo Parreño, Jian You Wang, Matteo Nava, Carolina Aguado, Rafael Luján, Salim Al‐Babili, Gianfranco Diretto, Oussama Ahrazem, Lourdes Gómez‐Gómez   +11 more
wiley   +1 more source

The Lack of a COPII Cargo Receptor Erv14 Impacts Physiological Functions of the Vacuole in Saccharomyces cerevisiae

Traffic, Volume 27, Issue 2, June 2026.
Loss of the cargo receptor Erv14 in Saccharomyces cerevisiae results in sensitivity to calcium, zinc, neutral extracellular pH, and elevated temperature. Furthermore, cells deleted in the ERV14 exhibits vacuolar fragmentation, enlarged lipid droplets, and metabolic alterations. Ruiz Salas, J. L. (2026) https://BioRender.com/b65g523. ABSTRACT Erv14 is a
Paul Rosas‐Santiago, Jorge Luis Ruiz Salas, Elizabeth Cordoba, Francisco Vera‐López Portillo, Prisciluis Caheri Salas‐Navarrete, Jaime Arturo Pimentel Cabrera, Alfredo Martínez, Nayeli Imelda Roldan Ramírez, Dieter Chavelas Hernández, Andrés Saralegui‐Amaro, Martha Calahorra, Hana Sychrová, Olga Zimmermannová   +12 more
wiley   +1 more source

Early Radiation Therapy Response Assessment Using Multi‐Scale Photoacoustic Imaging

Advanced Science, Volume 13, Issue 26, 8 May 2026.
Tomographic and mesoscopic photoacoustics capture intratumoural features of radioresistance and response. ABSTRACT There is a critical unmet clinical need to identify biomarkers that predict and detect radiation therapy (RT) response in cancer. Using the unique capabilities of multi‐scale photoacoustic imaging (PAI) to depict tumor oxygenation and ...
Thierry L. Lefebvre, Mariam‐Eleni Oraiopoulou, Ellie V. Bunce, Thomas R. Else, Lorna C. Wright, Monika A. Golinska, Lina Hacker, Cara Brodie, Steven Kupczak, Yi Cheng, Lisa Young, Paul W. Sweeney, Sarah E. Bohndiek   +12 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Genetic Diversity, Population Structure and Evidence of Genetic Bottleneck in Geoffroea decorticans (Fabaceae): Implications for Conservation

Ecology and Evolution, Volume 16, Issue 5, May 2026.
We documented genetic variation, population structure, and bottleneck signals in Geoffroea decorticans (Fabaceae) populations across the Atacama Desert and emphasize the urgency of genetic monitoring. Conservation plans should prioritize populations based on genetic information including those with low diversity, strong bottleneck signals and high ...
Roberto Contreras, Mariana Arias‐Aburto, Cecilia Bessega   +2 more
wiley   +1 more source

Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene. [PDF]

J Pediatr (Rio J)
Esquiaveto-Aun AM, de Lemos-Marini SHV, Guaragna MS, Mazzola TN, de Ferran K, Berardo RS, Gilban DLS, Schnaider GS, Kopacek C, Madeira IR, Nascimento ML, de Mello MP, Guerra-Junior G.   +12 more
europepmc   +1 more source

Glomalin production in Atlantic Forest: Effects of soil properties and plant families

Soil Science Society of America Journal, Volume 90, Issue 3, May/June 2026.
Abstract Glomalin, a glycoprotein produced by arbuscular mycorrhizal fungi (AMF), contributes to soil aggregation, carbon sequestration, and nutrient cycling. We present the first comprehensive assessment of environmental factors associated with glomalin availability, measured as easily extractable (easily extractable glomalin‐related soil protein [EE ...
Amanda Ponce de Leon, Yumi Oki, Walisson Kenedy‐Siqueira, Carla Rago, Gabriel Arvelino de Paula, Geraldo W. Fernandes   +5 more
wiley   +1 more source

Correction: Microbial diversity in the critically endangered Orinoco crocodile (<i>Crocodylus intermedius</i>): influence of body site and <i>Helicobacter</i> spp. on microbiota composition. [PDF]

Front Microbiol
Castelli L, García-Amado MA, Rudolf CA, Contreras M, Espinosa-Blanco AS, Godoy-Vitorino F.   +5 more
europepmc   +1 more source

The Red Queen unveils the sexual and mating strategies of flowers

Journal of Ecology, Volume 114, Issue 5, May 2026.
Although the conventional wisdom is that floral traits of plants evolved in concert with their mutualistic pollinators, here we showed that several key sexual and mating traits of plants, which modulate their outcrossing strategy, evolved in response to the pressure exerted by their antagonistic insect herbivores.
Carlos Roberto Fonseca, Martin Brändle, Martin M. Gossner   +2 more
wiley   +1 more source