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] Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic
cause of combined hearing and vision loss. USH is classified into three types, based on the …
cause of combined hearing and vision loss. USH is classified into three types, based on the …
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
S Delmaghani, A El-Amraoui - Human Genetics, 2022 - Springer
Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …
Computational tools for prioritizing candidate genes: boosting disease gene discovery
Y Moreau, LC Tranchevent - Nature Reviews Genetics, 2012 - nature.com
At different stages of any research project, molecular biologists need to choose—often
somewhat arbitrarily, even after careful statistical data analysis—which genes or proteins to …
somewhat arbitrarily, even after careful statistical data analysis—which genes or proteins to …
Retinal microglia–A key player in healthy and diseased retina
G Rathnasamy, WS Foulds, EA Ling, C Kaur - Progress in neurobiology, 2019 - Elsevier
Microglia, the resident immune cells of the brain and retina, are constantly engaged in the
surveillance of their surrounding neural tissue. During embryonic development they infiltrate …
surveillance of their surrounding neural tissue. During embryonic development they infiltrate …
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
AE Baum, N Akula, M Cabanero, I Cardona… - Molecular …, 2008 - nature.com
The genetic basis of bipolar disorder has long been thought to be complex, with the potential
involvement of multiple genes, but methods to analyze populations with respect to this …
involvement of multiple genes, but methods to analyze populations with respect to this …
Usher syndrome: clinical features, molecular genetics and advancing therapeutics
M Toms, W Pagarkar… - Therapeutic advances in …, 2020 - journals.sagepub.com
Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …
[HTML][HTML] Review series: The cell biology of hearing
Mammals have an astonishing ability to sense and discriminate sounds of different
frequencies and intensities. Fundamental for this process are mechanosensory hair cells in …
frequencies and intensities. Fundamental for this process are mechanosensory hair cells in …
New treatment options for hearing loss
U Müller, PG Barr-Gillespie - Nature reviews Drug discovery, 2015 - nature.com
Hearing loss is the most common form of sensory impairment in humans and affects more
than 40 million people in the United States alone. No drug-based therapy has been …
than 40 million people in the United States alone. No drug-based therapy has been …
Genetics of hearing loss: syndromic
T Koffler, K Ushakov, KB Avraham - Otolaryngologic Clinics of …, 2015 - oto.theclinics.com
Hearing loss (HL) is the most prevalent sensory impairment in both childhood and
adulthood. 1, 2 According to the last update of the World Health Organization (WHO) …
adulthood. 1, 2 According to the last update of the World Health Organization (WHO) …