Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
M Stemerdink, B García-Bohórquez, R Schellens… - Human Genetics, 2021 - Springer
Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a
combination of sensorineural hearing loss and a progressive loss of vision resulting from …
combination of sensorineural hearing loss and a progressive loss of vision resulting from …
Metabolomic profiling revealed altered lipid metabolite levels in childhood food allergy
H Jang, EG Kim, M Kim, SY Kim, YH Kim… - Journal of Allergy and …, 2022 - Elsevier
Background The pathophysiology of childhood food allergy (FA) and its natural history are
poorly understood. Clarification of the underlying mechanism may help identify novel …
poorly understood. Clarification of the underlying mechanism may help identify novel …
Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness
Variability in response to short-acting β2-agonists (eg, albuterol) among patients with
asthma from diverse racial/ethnic groups may contribute to asthma disparities. We sought to …
asthma from diverse racial/ethnic groups may contribute to asthma disparities. We sought to …
Refractory neutrophilic asthma and ciliary genes
VP Guntur, LA Manka, CM Moore, E Wynn… - Journal of Allergy and …, 2022 - Elsevier
Background Refractory asthma (RA) remains poorly controlled, resulting in high health care
utilization despite guideline-based therapies. Patients with RA manifest higher neutrophilia …
utilization despite guideline-based therapies. Patients with RA manifest higher neutrophilia …
Exploring the genetic control of sweat gland characteristics in beef cattle for enhanced heat tolerance
AS Hernandez, GA Zayas, EE Rodriguez… - Journal of Animal …, 2024 - Springer
Background Thermal stress in subtropical regions is a major limiting factor in beef cattle
production systems with around $369 million being lost annually due to reduced …
production systems with around $369 million being lost annually due to reduced …
The primary ciliary dyskinesia-related genetic risk score is associated with susceptibility to adult-onset asthma
R Shigemasa, H Masuko, H Oshima, K Hyodo… - Plos one, 2024 - journals.plos.org
Background Disturbance of mucociliary clearance is an important factor in the pathogenesis
of asthma. We hypothesized that common variants in genes responsible for ciliary function …
of asthma. We hypothesized that common variants in genes responsible for ciliary function …
Downregulation and aberrant localization of Forkhead Box J1 in allergic nasal mucosa
Y Peng, Z Chen, WJ Guan, Z Zhu, KS Tan… - … Archives of Allergy and …, 2018 - karger.com
Background: Forkhead box J1 (FOXJ1) plays pivotal roles in motile cilia formation. However,
it remains unclear whether abnormal expression or localization of FOXJ1 in nasal mucosa …
it remains unclear whether abnormal expression or localization of FOXJ1 in nasal mucosa …
Microarray assay reveals ciliary abnormalities of the allergic nasal mucosa
Y Peng, W Guan, Z Zhu, KS Tan… - American Journal of …, 2020 - journals.sagepub.com
Background Gene expression patterns (particularly, cilia-associated genes) of nasal
mucosa, the first-line defense system, in allergic rhinitis (AR) are not well understood …
mucosa, the first-line defense system, in allergic rhinitis (AR) are not well understood …
Replication study of susceptibility variants associated with allergic rhinitis and allergy in Han Chinese
Y Gao, J Li, Y Zhang, L Zhang - Allergy, Asthma & Clinical Immunology, 2020 - Springer
Background Allergic rhinitis (AR) is believed to be a complex genetic disease. The last
decade has been marked by the publication of more than 20 genome-wide association …
decade has been marked by the publication of more than 20 genome-wide association …
Interactive effect between ATPase-related genes and early-life tobacco smoke exposure on bronchial hyper-responsiveness detected in asthma-ascertained families
MH Dizier, P Margaritte-Jeannin, L Pain, C Sarnowski… - Thorax, 2019 - thorax.bmj.com
Background A positional cloning study of bronchial hyper-responsiveness (BHR) at the
17p11 locus in the French Epidemiological study on the Genetics and Environment of …
17p11 locus in the French Epidemiological study on the Genetics and Environment of …