The genetic architecture of morphological abnormalities of the sperm tail

A Touré, G Martinez, ZE Kherraf, C Cazin, J Beurois… - Human Genetics, 2021 - Springer
Spermatozoa contain highly specialized structural features reflecting unique functions
required for fertilization. Among them, the flagellum is a sperm-specific organelle required to …

An update on immunologic mechanisms in the respiratory mucosa in response to air pollutants

RD Huff, C Carlsten, JA Hirota - Journal of allergy and clinical immunology, 2019 - Elsevier
Every day, we breathe in more than 10,000 L of air that contains a variety of air pollutants
that can pose negative consequences to lung health. The respiratory mucosa formed by the …

Pathophysiology of bronchiectasis

HR Keir, JD Chalmers - Seminars in respiratory and critical care …, 2021 - thieme-connect.com
Bronchiectasis is a complex, heterogeneous disorder defined by both a radiological
abnormality of permanent bronchial dilatation and a clinical syndrome. There are multiple …

A systematic review of extreme phenotype strategies to search for rare variants in genetic studies of complex disorders

S Amanat, T Requena, JA Lopez-Escamez - Genes, 2020 - mdpi.com
Exome sequencing has been commonly used to characterize rare diseases by selecting
multiplex families or singletons with an extreme phenotype (EP) and searching for rare …

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

C Tu, H Nie, L Meng, S Yuan, W He, A Luo, H Li… - Scientific Reports, 2019 - nature.com
Male infertility due to spermatogenesis defects affects millions of men worldwide. However,
the genetic etiology of the vast majority remains unclear. Here we describe three men with …

Network study of nasal transcriptome profiles reveals master regulator genes of asthma

AN Do, Y Chun, G Grishina, A Grishin… - Journal of Allergy and …, 2021 - Elsevier
Background Nasal transcriptomics can provide an accessible window into asthma
pathobiology. Objective Our goal was to move beyond gene signatures of asthma to identify …

Update in cystic fibrosis 2018

BW Ramsey, GP Downey, CH Goss - American Journal of …, 2019 - atsjournals.org
In this review, we have selected several outstanding studies from the American Journal of
Respiratory and Critical Care Medicine (AJRCCM), the American Journal of Respiratory Cell …

Identification of novel candidate genes and variants for hearing loss and temporal bone anomalies

RLP Santos-Cortez, TKL Yarza, TC Bootpetch… - Genes, 2021 - mdpi.com
Background: Hearing loss remains an important global health problem that is potentially
addressed through early identification of a genetic etiology, which helps to predict outcomes …

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia

F Huang, J Zeng, D Liu, J Zhang, B Liang… - Frontiers in …, 2023 - frontiersin.org
Introduction Asthenoteratozoospermia is one of the most common causes of male infertility.
Several genes have been identified as genetic causative factors, but there is a considerable …

Characterizing mucociliary clearance in young children with cystic fibrosis

BL Laube, KA Carson, CM Evans, MA Aksit… - Pediatric …, 2022 - nature.com
Background This research characterized mucociliary clearance (MCC) in young children
with cystic fibrosis (CF). Methods Fourteen children (5–7 years old) with CF underwent: two …