Anosmia—a clinical review

S Boesveldt, EM Postma, D Boak… - Chemical …, 2017 - academic.oup.com
Anosmia and hyposmia, the inability or decreased ability to smell, is estimated to afflict 3–
20% of the population. Risk of olfactory dysfunction increases with old age and may also …

Managing Bardet–Biedl syndrome—now and in the future

E Forsythe, J Kenny, C Bacchelli, PL Beales - Frontiers in pediatrics, 2018 - frontiersin.org
Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by
defects in genes encoding for proteins that localize to the primary cilium/basal body …

Chitosan in non-viral gene delivery: Role of structure, characterization methods, and insights in cancer and rare diseases therapies

B Santos-Carballal, E Fernández Fernández… - Polymers, 2018 - mdpi.com
Non-viral gene delivery vectors have lagged far behind viral ones in the current pipeline of
clinical trials of gene therapy nanomedicines. Even when non-viral nanovectors pose less …

Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project

G Wheway… - Frontiers in …, 2019 - frontiersin.org
Cilia are highly specialized cellular organelles that serve multiple functions in human
development and health. Their central importance in the body is demonstrated by the …

Ciliopathies: genetics in pediatric medicine

MM Oud, IJC Lamers, HH Arts - Journal of pediatric genetics, 2017 - thieme-connect.com
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary
disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up …

Alström syndrome: current perspectives

M Álvarez-Satta, S Castro-Sánchez… - The application of …, 2015 - Taylor & Francis
Alström syndrome (ALMS) is a rare genetic disorder that has been included in the
ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases …

Olfactory receptor function

I Glezer, B Malnic - Handbook of clinical neurology, 2019 - Elsevier
Olfaction plays a critical role in several aspects of life. Olfactory disorders are very common
in the general population, and can lead to malnutrition, weight loss, food poisoning …

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 …

Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort

MJ Reeves, KE Goetz, B Guan, E Ullah… - Human …, 2020 - Wiley Online Library
Molecular variant interpretation lacks disease gene‐specific cohorts for determining variant
enrichment in disease versus healthy populations. To address the molecular etiology of …

Concise review: primary cilia: control centers for stem cell lineage specification and potential targets for cell-based therapies

JC Bodle, EG Loboa - Stem cells, 2016 - academic.oup.com
Directing stem cell lineage commitment prevails as the holy grail of translational stem cell
research, particularly to those interested in the application of mesenchymal stem cells and …