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 …

The primary cilium has recently stepped into the spotlight, as a flood of data show that this
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …

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 …

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 …

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 …

Ciliopathies are a collection of disorders related to cilia dysfunction. Cilia are specialized
organelles that project from the surface of most cells. Motile and primary (sensory) cilia are …

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

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized
primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning …