Results 31 to 40 of about 7,382 (203)

Development and disease of the photoreceptor cilium [PDF]

, 2009
Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues.
Adams, Apfeld, Arikawa, Arts, Baker, Barnes, Blacque, Blacque, Boon, Cole, Cole, Connell, Davenport, Davis, Fliegauf, Gao, Goldberg, Hartong, Hong, Humphries, Insinna, Insinna, Jansen, Jimeno, Kozminski, Krock, Leroux, Liu, Liu, Liu, Marszalek, Moore, Moritz, Nachury, Nir, Ou, Pazour, Pedersen, Reiners, Roepman, Sanyal, Sukumaran, Tobin, Travis, Weil, Williams, Wright, Young, Zhao   +48 more
core   +1 more source

Overlap Syndromes in Autoimmune Connective Tissue Diseases

Acta Medica Bulgarica
Autoimmune connective tissue diseases are a group of immune disorders, characterized by different clinical features, which affects not only the skin but also different organs and systems.
Dourmishev L. A.
doaj   +1 more source

Novel grading system for quantification of cystic macular lesions in Usher syndrome [PDF]

, 2015
International audienceBackground: To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and USH2A ...
Mohand-Said, Saddek, Peto, Tunde, Sahel, Jose Alain, Sliesoraityte, Ieva   +3 more
core   +4 more sources

Sjögren Disease—B Cells at the Brink: From Autoimmunity to Lymphomagenesis and the Rise of Novel B Cell–Targeted Therapies

Arthritis &Rheumatology, EarlyView.
Sjögren disease (SjD) is a common systemic autoimmune disorder characterized by inflammation of the exocrine glands, resulting in dryness. Patients frequently exhibit extraglandular manifestations affecting various organ systems. To date, there are no US Food and Drug Administration (FDA)‐approved disease‐modifying therapies for SjD. In this review, we
Rachael A. Gordon, Sara S. McCoy
wiley   +1 more source

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. [PDF]

, 2014
published_or_final_versio
A Yin, AE Shearer, AE Shearer, AJ Coffey, AM Sulonen, C Petit, C Petit, CC Morton, DL Dinwiddie, Dongyi Han, Fei Ji, G Van Camp, HM Woo, Huijun Yuan, I Schrauwen, Jing Cheng, JM Schultz, KwongWai Choy, Liyang Liu, LM Astuto, M Sotomayor, MA DePristo, MA Musarella, Michael Zhang, MJ Clark, NE Morton, PJ Coucke, R Tewhey, RJ Smith, SE Calvo, TA Sivakumaran, V Plagnol, W Tang, Weidong Shen, X Lin, X Liu, Xuegong Zhang, Xueya Zhou, Y Yuan, Ye Cao, Yu Lu, Z Brownstein, Zhanguo Jin   +42 more
core   +1 more source

Evaluating and leveraging large language models in clinical pharmacology and therapeutics assessment: From exam takers to exam shapers

British Journal of Clinical Pharmacology, EarlyView.
Aims In medical education, the ability of large language models (LLMs) to match human performance raises questions about their potential as educational tools. This study evaluates LLMs' performance on Clinical Pharmacology and Therapeutics (CPT) exams, comparing their results to medical students and exploring their ability to identify poorly formulated
Alexandre O. Gérard, Diane Merino, Marc Labriffe, Fanny Rocher, Delphine Viard, Laurence Zemori, Thibaud Lavrut, Erik M. Donker, Joost D. Piët, Jean‐Paul Fournier, Milou‐Daniel Drici, Alexandre Destere   +11 more
wiley   +1 more source

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Smith, Andrew H, Fish, Frank A, Kannankeril, Prince J   +2 more
core   +1 more source

Genetic hearing loss: a study of 228 Brazilian patients [PDF]

, 2000
We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case.
Brunoni, Decio, Longhitano, Silvia Bragagnolo   +1 more
core   +3 more sources

Advances in GPCRs Associated With Wnt Signaling Within the Auditory System

Medicine Bulletin, EarlyView.
ABSTRACT G protein‐coupled receptors (GPCRs) that interact with the Wnt signaling pathway are pivotal for auditory system homeostasis, as they orchestrate inner ear development, hair cell (HC) regeneration, and hearing preservation. Frizzled (FZD) receptors, the core Wnt‐related GPCRs, bind Wnt ligands and co‐receptors (e.g., LRP5/6) to activate both ...
Liang Wang, Changling Xu, Jiangang Fan, Renjie Chai   +3 more
wiley   +1 more source

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients [PDF]

, 2015
Both Novel missense alleles identified in MYO7A genes are conserved between human, zebrafish and Drosophila melanogaster.
Binbin Wang, Hui Wang, Jacques Eric Zaneveld, Jing Wang, Keqing Wang, Lichun Jiang, Rui Chen, Ruifang Sui, Shan Xu, Xiaofang Liang, Yumei Li   +10 more
core   +2 more sources