Results 181 to 190 of about 733,516 (222)

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Menstrual health: an analysis of experiences among school-aged adolescents. [PDF]

Rev Esc Enferm USP
Adomaitis JCO, Stofel NS, Silva MGF, Santos VC, Borges FA, Carlos DM, Farias BLS, Ogata MN, Monteiro JCDS.   +8 more
europepmc   +1 more source

Structural and functional dissection of the WH2/DAD motif of INF2, a formin linked to human inherited degenerative disorders

The FEBS Journal, Volume 293, Issue 3, Page 825-841, February 2026.
The INF2 WH2/DAD domain, composed of hydrophobic and basic regions, forms a single α‐helix in solution. The hydrophobic segment is essential for INF2 function, as its deletion disrupts actin dynamics and causes nuclear abnormalities, like those seen in pathogenic INF2 DID variants. In contrast, natural INF2 WH2/DAD variants found in patients with renal
Leticia Labat‐de‐Hoz, Laura Fernández‐Martín, Paula Morales, Isabel Correas, María Ángeles Jiménez, Miguel Angel Alonso   +5 more
wiley   +1 more source

The Stroke Riskometer™ in the Outpatient Clinic as an Educational Campaign for Acute Ischemic Stroke. [PDF]

Rev Neurol
Ortega-Moreno DA, Tienda-López F, Sánchez-Peralta ES, León-Pérez AL, Loaiza-Pérez D, Chávez-Ríos F, Góngora-Rivera F, GECEN-Investigators.   +7 more
europepmc   +1 more source

Pleiotrophin/Midkine Pathway Is Dysregulated in a TDP‐43A315T Mouse Model of Amyotrophic Lateral Sclerosis (ALS)

Neuropathology, Volume 46, Issue 1, February 2026.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease (MND) characterized by progressive degeneration of both upper and lower motor neurons, along with skeletal muscles innervated by them. The identification of key molecules involved in disease pathology remains crucial for ALS, as no curative treatment is currently available ...
Paloma Martínez‐Alesón, Cristina Benito‐Casado, Carmen María Fernández‐Martos, María José Polanco Mora   +3 more
wiley   +1 more source

[Evaluation of pharmaceutical intervention to patients in the community through telepharmacy]. [PDF]

Farm Comunitarios
Delgado-Pérez GM, Munayco Ortiz XN, Chipana Lujan JR, Dávila-Espinoza CE, Pizarro-Herrera VR.   +4 more
europepmc   +1 more source

Enter the matrix: Examining the psychosocial determinants of support for a technocracy of artificial intelligence

Political Psychology, Volume 47, Issue 1, February 2026.
Abstract Artificial Intelligence (AI) stands as the most transformative technology since the Industrial Revolution. As AI is integrated into different domains of life, it is likely to also permeate politics. In fact, some voices already advocate for AI to make political decisions.
Marcos Dono, Eva Moreno Bella
wiley   +1 more source

Risk Factors Associated with Dentofacial Anomalies [Including Malocclusion] in Adults. [PDF]

Bioengineering (Basel)
Sanchez-Hernandez OE, Lopez-Hernandez D, Brito-Aranda L, Izquierdo-Vega AJ, Beltran-Lagunes L, Fuentes-Torres GP, Salinas-Palacios PV, Ortega-Lopez JC, Lopez-Sanchez MLA, Torres-Garcia EE, Flores-Morales GJ, Anguiano-Velazquez TG.   +11 more
europepmc   +1 more source

CYP1A2 Genotype and the Ergogenic Effect of Acute Caffeine Intake on Muscular Strength and Endurance Performance in Trained Individuals

Scandinavian Journal of Medicine &Science in Sports, Volume 36, Issue 2, February 2026.
ABSTRACT This study examined whether CYP1A2 (rs762551) genotype modulates the acute ergogenic effects of caffeine on muscular strength and endurance performance in resistance‐trained men and women. Ninety‐four resistance‐trained participants (47 females, 47 males; 39 AA, 44 AC, 11 CC) completed a randomized, triple‐blind, placebo‐controlled, crossover ...
Juan Jesús Montalvo‐Alonso, Marta del Val‐Manzano, Iván Martín‐Rivas, Carmen Ferragut, David Valadés, Alberto Pérez‐López   +5 more
wiley   +1 more source

Tirzepatida mostró resultados promisorios en pacientes con insuficiencia cardíaca con fracción de eyección conservada y obesidad

Evidencia. Actualización en la Práctica Ambulatoria
Karin Kopitowski, Valeria Vietto
doaj   +1 more source