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 …

[HTML][HTML] Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities

P Mathur, J Yang - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2015 - Elsevier
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 …

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 …

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 …

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 …

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 …

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 …

[HTML][HTML] Review series: The cell biology of hearing

M Schwander, B Kachar, U Müller - The Journal of cell biology, 2010 - ncbi.nlm.nih.gov
Mammals have an astonishing ability to sense and discriminate sounds of different
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 …

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) …