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 …
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
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 …
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 …
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
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 …
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 …
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
Background Nasal transcriptomics can provide an accessible window into asthma
pathobiology. Objective Our goal was to move beyond gene signatures of asthma to identify …
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 …
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 …
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 …
Several genes have been identified as genetic causative factors, but there is a considerable …
Characterizing mucociliary clearance in young children with cystic fibrosis
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 …
with cystic fibrosis (CF). Methods Fourteen children (5–7 years old) with CF underwent: two …