In high-, middle-and low-income countries, the rising prevalence of obesity is the underlying
cause of numerous health complications and increased mortality. Being a complex and …

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

Biocapital is a major theoretical contribution to science studies and political economy.
Grounding his analysis in a multi-sited ethnography of genomic research and drug …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Defects in the function of cellular organelles such as peroxisomes, lysosomes and
mitochondria are well-known causes of human diseases. Recently, another organelle has …

This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …