Results 151 to 160 of about 8,196 (216)

["Living step by step": Rehabilitation pathways of children with disabilities in the narratives of women caregivers in western Santiago, Chile]. [PDF]

Salud Colect
Muñoz-Lizana N, Osorio-Parraguez P, Pino-Morán JA.   +2 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

LowLoad-qPCR as a novel clinical strategy for detecting low-load bacteremia. [PDF]

Sci Rep
Gómez Estévez P, Cisneros JM, Lepe JA, Martín-Gutiérrez G, Ortiz de la Rosa JM.   +4 more
europepmc   +1 more source

CSF‐Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery

Annals of Neurology, EarlyView.
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo, Claudia Papi, Chiara Milano, Esther Aguilar, Estibaliz Maudes, Ivana Duvnjak Orešković, Jerko Štambuk, Maja Pučić‐Baković, Gemma Olivé‐Cirera, Elianet Fonseca, Mar Guasp, Eugenia Martinez‐Hernandez, Helena Ariño, Takahiro Iizuka, Thais Armangué, Josep Dalmau, Marianna Spatola   +16 more
wiley   +1 more source

π‐Enlargement in Porphyrin Macrocycles at Interfaces

Angewandte Chemie, EarlyView.
On‐surface synthesis of a 20‐π free‐base expanded porphyrin, by depositing onto a hot Ag(111) substrate an 18‐π free‐base precursor equipped with ‐CF3 functional groups ABSTRACT Porphyrins are essential heteroatomic macrocycles, fundamental to both biological systems and advanced technology.
Ana Barragán, Elena Pérez‐Elvira, Alba García‐Frutos, Diego J. Vicent, Pingo Mutombo, Koen Lauwaet, José M. Gallego, Rodolfo Miranda, José I. Urgel, Aurelio Gallardo, Nazario Martín, David Écija   +11 more
wiley   +2 more sources

Extended-spectrum beta-lactamase-producing Escherichia coli and Klebsiella pneumoniae from human carriage, the human-polluted environment, and food: Molecular epidemiology of two prospective cohorts in five European metropolitan areas. [PDF]

PLoS One
Verschuuren TD, Guther J, Riccio ME, Martak D, Salamanca E, Göpel S, Conzelmann N, Scharringa J, Musicha P, Autenrieth IB, Cooper BS, Hocquet D, Tacconelli E, Rodríguez-Baño J, Harbarth S, Fluit AC, Peter S, Kluytmans JAJW.   +17 more
europepmc   +1 more source

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

Annals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi, Chiara Milano, Laura Marmolejo, Ana Beatriz Serafim, Esther Aguilar, Mar Guasp, Elianet Fonseca, Mateus Mistieri Simabukuro, Raffaele Iorio, Yuki Fukami, Maria Lucia Schmitz Ferreira Santos, Takashi Miwa, Takashi Araga, Yuto Uchida, Masanori Kurihara, Satoshi Okada, Luz Victoria Garcia, Kenichi Kaida, Natalia Spinola Costa da Cunha, Alberto Vogrig, Florian Lamblin, Juna M. de Vries, Livia Almeida Dutra, Romana Höftberger, Maarten J. Titulaer, Jesús Planagumà, Lidia Sabater, Eugenia Martinez‐Hernandez, Thais Armangué, Francesc Graus, Takahiro Iizuka, Josep Dalmau, Marianna Spatola, Anti‐GABAAR encephalitis study group   +33 more
wiley   +1 more source

Delayed Halide‐Rich Molecular Passivation of CsPbCl3 Perovskite Nanocrystals Enables Bright Violet Light‐Emitting Diodes

Angewandte Chemie, EarlyView.
POCl3 enables delayed dual passivation in CsPbCl3 nanocrystals by slowly releasing Cl‐containing and phosphonic species that heal halide vacancies and Pb‐related defects over time. This self‐healing boosts PLQY by >40‐fold, preserves efficient violet emission for over 2 months in air, and yields a record 409 cd m−2 luminance for CsPbCl3 violet LEDs ...
Nadesh Fiuza‐Maneiro, Junzhi Ye, Woo Hyeon Jeong, Rui Xu, Qingyu Wang, Dong Yoon Chung, Robert A. Taylor, Iago López‐Fernández, Bofeng Xue, Akshay Rao, Bo Ram Lee, Yunwei Zhang, Robert L. Z. Hoye, Sergio Gómez‐Graña, Lakshminarayana Polavarapu   +14 more
wiley   +2 more sources

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Stimuli‐Responsive Silsesquioxane Nanozymes for Organocatalysis in Water and Prodrug Activation in Cells

Angewandte Chemie, EarlyView.
Amino‐bearing silsesquioxanes are water‐stable nanozymes that exhibit aggregation‐ and disaggregation‐dependent catalysis and can be applied to intracellular prodrug activation for cancer therapy. ABSTRACT Synthetic nanozymes have emerged as promising alternatives to natural enzymes for catalytic and therapeutic applications, yet their limited ...
Rabia Zahid, Ariadna Lázaro, Guillermo Moreno‐Alcántar, María Sancho‐Albero, Pierre Picchetti   +4 more
wiley   +2 more sources