Primary cilia and mammalian hedgehog signaling

F Bangs, KV Anderson - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
It has been a decade since it was discovered that primary cilia have an essential role in
Hedgehog (Hh) signaling in mammals. This discovery came from screens in the mouse that …

Molecular mechanisms of adaptive evolution in wild animals and plants

Y Hu, X Wang, Y Xu, H Yang, Z Tong, R Tian… - Science China Life …, 2023 - Springer
Wild animals and plants have developed a variety of adaptive traits driven by adaptive
evolution, an important strategy for species survival and persistence. Uncovering the …

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 …

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 …

Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas

Y Hu, QI Wu, S Ma, T Ma, L Shan, X Wang… - Proceedings of the …, 2017 - pnas.org
Phenotypic convergence between distantly related taxa often mirrors adaptation to similar
selective pressures and may be driven by genetic convergence. The giant panda …

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

C Lowther, E Valkanas, JL Giordano, HZ Wang… - The American Journal of …, 2023 - cell.com
Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …

Photoreceptor cilia and retinal ciliopathies

KM Bujakowska, Q Liu… - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

Making sense of cilia in disease: the human ciliopathies

K Baker, PL Beales - American journal of medical genetics part …, 2009 - Wiley Online Library
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar
functions. The most obvious example of the latter is motility: driving movement of the …

Ciliary disorder of the skeleton

C Huber, V Cormier‐Daire - … Journal of Medical Genetics Part C …, 2012 - Wiley Online Library
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen
disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and …

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

J Halbritter, AA Bizet, M Schmidts, JD Porath… - The American Journal of …, 2013 - cell.com
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules,
subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT …