BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

The core axoneme structure of both the motile cilium and sperm tail has the same
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …

Spermatozoa contain highly specialized structural features reflecting unique functions
required for fertilization. Among them, the flagellum is a sperm-specific organelle required to …

Male infertility is an increasing problem partly due to inherited genetic variations. Mutations
in genes involved in formation of the sperm tail cause motility defects and thus male …

Ten to fifteen percent of couples are confronted with infertility and a male factor is involved in
approximately half the cases. A genetic etiology is likely in most cases yet only few genes …

BACKGROUND Male infertility affects> 20 million men worldwide and represents a major
health concern. Although multifactorial, male infertility has a strong genetic basis which has …

Spermatogenesis defects concern millions of men worldwide, yet the vast majority remains
undiagnosed. Here we report men with primary infertility due to multiple morphological …

Cilia and flagella are widespread cell organelles that have been highly conserved
throughout evolution and play important roles in motility, sensory perception, and the life …

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in
ciliary structure/function. We hypothesized that the major clinical and biologic phenotypic …

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the
disease-causing mutations identified to date involve the heavy (dynein axonemal heavy …