Retinitis pigmentosa
DT Hartong, EL Berson, TP Dryja - The Lancet, 2006 - thelancet.com
Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …
The primary cilium: a signalling centre during vertebrate development
SC Goetz, KV Anderson - Nature Reviews Genetics, 2010 - nature.com
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 …
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …
The Chlamydomonas Genome Reveals the Evolution of Key Animal and Plant Functions
Chlamydomonas reinhardtii is a unicellular green alga whose lineage diverged from land
plants over 1 billion years ago. It is a model system for studying chloroplast-based …
plants over 1 billion years ago. It is a model system for studying chloroplast-based …
Ciliopathies
F Hildebrandt, T Benzing… - New England Journal of …, 2011 - Mass Medical Soc
Ciliopathies | New England Journal of Medicine Skip to main content The New England Journal
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a
genetic disorder whose symptoms include obesity, retinal degeneration, and nephropathy …
genetic disorder whose symptoms include obesity, retinal degeneration, and nephropathy …
The human obesity gene map: the 2005 update
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 …
published results up to the end of October 2005. Evidence from single‐gene mutation …
Proximal events in Wnt signal transduction
The Wnt family of secreted ligands act through many receptors to stimulate distinct
intracellular signalling pathways in embryonic development, in adults and in disease …
intracellular signalling pathways in embryonic development, in adults and in disease …
The ciliopathies: an emerging class of human genetic disorders
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …
Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity
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 …
cause of numerous health complications and increased mortality. Being a complex and …
[HTML][HTML] Insulin/insulin-like growth factor signaling in C. elegans
The C. elegans insulin/IGF-1 signaling (IIS) pathway connects nutrient levels to metabolism,
growth, development, longevity, and behavior. This fundamental pathway is regulated by …
growth, development, longevity, and behavior. This fundamental pathway is regulated by …