Cilia, ciliopathies and hedgehog-related forebrain developmental disorders

A Andreu-Cervera, M Catala… - Neurobiology of …, 2021 - Elsevier
Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …

Bardet-Biedl syndrome: current perspectives and clinical outlook

A Melluso, F Secondulfo, G Capolongo… - … and Clinical Risk …, 2023 - Taylor & Francis
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 …

Genetics of human Bardet–Biedl syndrome, an updates

SA Khan, N Muhammad, MA Khan, A Kamal… - Clinical …, 2016 - Wiley Online Library
Bardet–Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic
disorder characterized by six major defects including obesity, mental retardation, renal …

Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes

V Niederlova, M Modrak, O Tsyklauri… - Human …, 2019 - Wiley Online Library
Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ
anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome …

Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: past, present and future

B Chandra, ML Tung, Y Hsu, T Scheetz… - Progress in retinal and …, 2022 - Elsevier
The primary cilium is a highly specialized and evolutionary conserved organelle in
eukaryotes that plays a significant role in cell signaling and trafficking. Over the past few …

Magnetic resonance imaging of human olfactory dysfunction

P Han, Y Zang, J Akshita, T Hummel - Brain Topography, 2019 - Springer
Olfactory dysfunctions affect a larger portion of population (up to 15% with partial olfactory
loss, and 5% with complete olfactory loss) as compared to other sensory dysfunctions (eg …

[HTML][HTML] Bardet-Biedl syndrome overview

R Forsyth, M Gunay-Aygun - 2020 - europepmc.org
Bardet-Biedl Syndrome Overview - Abstract - Europe PMC Sign in | Create an account https://orcid.org
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Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa

SM Peterson, TJ McGill, T Puthussery… - Experimental eye …, 2019 - Elsevier
The development of therapies for retinal disorders is hampered by a lack of appropriate
animal models. Higher nonhuman primates are the only animals with retinal structure similar …

Gene therapeutic reversal of peripheral olfactory impairment in Bardet-Biedl syndrome

CL Williams, CR Uytingco, WW Green, JC McIntyre… - Molecular therapy, 2017 - cell.com
Olfactory dysfunction is a pervasive but underappreciated health concern that affects
personal safety and quality of life. Patients with olfactory dysfunctions have limited …

The cilium: a cellular antenna with an influence on obesity risk

ECM Mariman, RG Vink, NJT Roumans… - British Journal of …, 2016 - cambridge.org
Primary cilia are organelles that are present on many different cell types, either transiently or
permanently. They play a crucial role in receiving signals from the environment and passing …