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 …
Ciliopathies
DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
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 …
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
[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 …
[HTML][HTML] The hunger genes: pathways to obesity
AA Van der Klaauw, IS Farooqi - Cell, 2015 - cell.com
The global rise in the prevalence of obesity and associated co-morbidities such as type 2
diabetes, cardiovascular disease, and cancer represents a major public health concern. The …
diabetes, cardiovascular disease, and cancer represents a major public health concern. The …
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 …
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 …
Bardet–biedl syndrome
E Forsythe, PL Beales - European journal of human genetics, 2013 - nature.com
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by
retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and …
retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and …
Ciliopathies: an expanding disease spectrum
AM Waters, PL Beales - Pediatric nephrology, 2011 - Springer
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 …
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …
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 Chlamydomonas Genome Reveals the Evolution of Key Animal and Plant Functions
SS Merchant, SE Prochnik, O Vallon, EH Harris… - Science, 2007 - science.org
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 …