Results about: ciliopathy

<p>Stracker</p>

The recognition of many types of DNA lesions activates the cellular DNA damage response (DDR). The DDR orchestrates the appropriate cellular programs to maintain genome integrity after genotoxic stress.

Research at IRB Barcelona Sheds Light on the Causes of Male Infertility

The research group led by Travis Stracker identifies genes involved in male infertility in mice.

Their findings are relevant in humans and could explain undiagnosed cases of male infertility or subfertility.

Connections between the cell cycle, centrosomes and cilia are gaining attention in biomedicine

A conference organised by IRB Barcelona and the BBVA Foundation brings together leading international researchers devoted to two cell organelles that play key roles in health and disease.

Cancer and certain developmental disorders are characterised by impaired activity of these complex cell structures and defects in cell cycle control.

Discovery of a gene associated with a set of poorly understood rare diseases

IRB Barcelona identifies GEMC1 as a master gene for the generation of multiciliated cells—cells with fine filaments that move fluids and substances—which are found exclusively in the brain, respiratory tract, and reproductive system.

Defects in multiciliated cells lead to ciliopathies—rare and complex diseases that are poorly understood and for which not all causative genes have been identified.

Key protein in cilia assembly identified

The study, published in Current Biology, focuses on cilia, the cellular structures that by sensing chemicals and mechanical forces allow for smelling, hearing, and many other essential functions.