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 …

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

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …

Abstract Background N 6-methyladenosine (m 6 A) is an important epitranscriptomic mark
with high abundance in the brain. Recently, it has been found to be involved in the …

Abstract The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of
non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly …

Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling.
Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or …

Despite our understanding of actomyosin function in individual migrating cells, we know little
about the mechanisms by which actomyosin drives collective cell movement in vertebrate …

Sensorineural hearing loss is a common and currently irreversible disorder, because
mammalian hair cells (HCs) do not regenerate and current stem cell and gene delivery …

Autosomal dominant polycystic kidney disease (ADPKD) is a progressive inherited disorder
in which renal tissue is gradually replaced with fluid-filled cysts, giving rise to chronic kidney …

Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone
dystrophy with early macular involvement. BBS is an autosomal recessive, genetically …