Results 291 to 300 of about 547,402 (323)

Polydatin ameliorates ovalbumin‐induced asthma in a rat model through NCOA4‐mediated ferroautophagy and ferroptosis pathway

FEBS Open Bio, EarlyView.
In this research, a rat model of asthma was created using OVA, and polydatin served as an intervention. By inhibiting ferroautophagy mediated by NCOA4 and averting ferroptosis, polydatin has been demonstrated to reduce asthma. This work presents new ideas for investigating the mechanism of polydatin's ability to alleviate asthma, in addition to ...
Wei Li, Yuwei Tang, Wenkang Liu, Fang Fang, Jiepeng Wang, Chaoyi Fang   +5 more
wiley   +1 more source

Beyond p‐values: Assessing clinical significance in acupuncture research

Advanced Chinese Medicine, EarlyView.
Abstract In acupuncture randomized controlled trials (RCTs), the proper interpretation of results requires a thorough understanding of key statistical concepts such as p‐value, effect size, and the minimal clinically important difference (MCID). This paper explores the relationships among these metrics and their implications for assessing the clinical ...
Changzhen Gong
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

A formal framework for integrating human expertise in eukaryotic gene annotation

, 2006
Sarah Djebali
openalex   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

NMDAR‐Antibody Encephalitis Diagnosed With Primary Central Nervous System Lymphoma: A Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT N‐methyl‐D‐aspartate receptor‐antibody encephalitis (NMDAR encephalitis) is one of the most common forms of autoimmune encephalitis, with a paraneoplastic relationship described in approximately 38%. Primary central nervous system lymphoma (PCNSL) is a rare hematologic malignancy that is not often considered as the underlying neoplasm in this ...
Soo Hyun Ahn, Cynthea Prima, Tae Min Kim, Soon‐Tae Lee, Kon Chu   +4 more
wiley   +1 more source

Phenotyping Healthcare Use 2–3 Decades Before the First Multiple Sclerosis Demyelinating Event

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Phenotype hospital, physician, and emergency department (ED) visits by diagnoses and specialty up to 29 years pre‐multiple sclerosis (MS) onset versus a matched population without MS. Methods We identified people with MS (PwMS) using population‐based administrative data from Ontario, Canada (1991–2020).
Helen Tremlett, Karl Everett, Colleen J. Maxwell, Feng Zhu, Ayesha Asaf, Ping Li, Kyla A. McKay, Yinshan Zhao, Ruth Ann Marrie   +8 more
wiley   +1 more source

Plasma microRNA Signature as Predictive Marker of Clinical Response to Therapy During Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite the availability of effective therapies for Multiple Sclerosis (MS), the unpredictable nature of disease progression and the variability in individual treatment outcomes call for reliable biomarkers. This pilot study aims to investigate the potential of plasma circulating microRNAs (miRNAs) as predictive biomarkers for ...
Fortunata Carbone, Alessandra Colamatteo, Teresa Micillo, Gianmarco Abbadessa, Silvia Garavelli, Clorinda Fusco, Claudia Russo, Francesco Perna, Federica Garziano, Claudia La Rocca, Maria Mottola, Giorgia Teresa Maniscalco, Simona Bonavita, Antonio Luca Spiezia, Alessia Castiello, Roberta Lanzillo, Vincenzo Brescia Morra, Claudio Procaccini, Paola de Candia, Giuseppe Matarese   +19 more
wiley   +1 more source