Results 181 to 190 of about 247,558 (284)

Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis

Journal of Clinical Laboratory Analysis, EarlyView.
We established an ATP‐based functional screening system in NDUFAF6 knockout cells to evaluate the pathogenicity of gene variants associated with mitochondrial dysfunction. Our results highlight the limitations of in silico predictions and underscore the necessity of experimental validation for accurate variant interpretation.
Feng Jiang, Ayumu Sugiura, Yoshihito Kishita, Kohta Nakamura, Xinju Qi, Yuxin Liu, Kei Murayama, Yasushi Okazaki   +7 more
wiley   +1 more source

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. [PDF]

Front Med (Lausanne)
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 more
europepmc   +1 more source

Artificial intelligence strategies for predicting kinase inhibitor resistance: A comprehensive review of methods, challenges, and future perspectives

Journal of Intelligent Medicine, EarlyView.
Abstract Kinase inhibitors are essential in targeted cancer therapy, yet resistance often emerges through secondary mutations, activation of compensatory signaling pathways, or drug‐efflux mechanisms. Artificial intelligence (AI) provides a workflow‐based strategy rather than a list of unrelated tools for predicting and addressing kinase‐inhibitor ...
Faris Hassan, Mohanad Ali Deifallah, Alaa Zaghloul, Rania Elgohary   +3 more
wiley   +1 more source

Structural Analysis of Missense Mutations on the Stability of APOE3 and APOE4. [PDF]

Genes (Basel)
Anthony M, Xie Y, O'Neil JN, Teng S.
europepmc   +1 more source

Epigenetic inflammatory memory and periodontal disease: Mechanisms and clinical significance for comorbidities

Journal of Periodontology, EarlyView.
Abstract Historically, immunological memory was considered an exclusive feature of adaptive immunity. However, innate immune cells have recently been shown to record and maintain epigenetically imprinted memory of earlier infectious or inflammatory challenges.
George Hajishengallis
wiley   +1 more source

Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report. [PDF]

Cureus
Harada A, Anno T, Isobe H, Kaku K, Kaneto H.   +4 more
europepmc   +1 more source

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson, Myra Butrviengpunt, Naomi Tjaden, Alain J. Benitez, Archana S. Kota, Jennifer Webster, Prasanna Kapavarapu, Hayat Mousa, Robert O. Heuckeroth   +8 more
wiley   +1 more source

A Comprehensive Mutational and Histopathological Analysis of STK11-Mutant Non-Small Cell Lung Carcinomas. [PDF]

Mod Pathol
Pineda CM, Guan Z, Kwon H, Rangachari D, Costa DB, VanderLaan PA.   +5 more
europepmc   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing. [PDF]

Diagnostics (Basel)
Akbulut S, Is S, Koprulu TK, Varol FI, Kucukakcali Z, Colak C, Koc A, Tekin S, Yilmaz S.   +8 more
europepmc   +1 more source