Genome-wide association studies in ADHD

B Franke, BM Neale, SV Faraone - Human genetics, 2009 - Springer
Attention-deficit/hyperactivity disorder, ADHD, is a common and highly heritable
neuropsychiatric disorder that is seen in children and adults. Although heritability is …

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 …

[HTML][HTML] Sex differences in hearing: Probing the role of estrogen signaling

BZ Shuster, DA Depireux, JA Mong… - The Journal of the …, 2019 - pubs.aip.org
Hearing loss is the most common form of sensory impairment in humans, with an anticipated
rise in incidence as the result of recreational noise exposures. Hearing loss is also the …

Single cell and single nucleus RNA-Seq reveal cellular heterogeneity and homeostatic regulatory networks in adult mouse stria vascularis

S Korrapati, I Taukulis, R Olszewski, M Pyle… - Frontiers in molecular …, 2019 - frontiersin.org
The stria vascularis (SV) generates the endocochlear potential (EP) in the inner ear and is
necessary for proper hair cell mechanotransduction and hearing. While channels belonging …

Hearing impairment: a panoply of genes and functions

AA Dror, KB Avraham - Neuron, 2010 - cell.com
Research in the genetics of hearing and deafness has evolved rapidly over the past years,
providing the molecular foundation for different aspects of the mechanism of hearing …

Function and expression pattern of nonsyndromic deafness genes

N Hilgert, RJH Smith, GV Camp - Current molecular medicine, 2009 - ingentaconnect.com
Hearing loss is the most common sensory disorder, present in 1 of every 500 newborns. To
date, 46 genes have been identified that cause nonsyndromic hearing loss, making it an …

[HTML][HTML] Autosomal recessive nonsyndromic deafness genes: a review

D Duman, M Tekin - Frontiers in bioscience: a journal and virtual …, 2012 - ncbi.nlm.nih.gov
More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …

Age‐related hearing loss: Why we need to think about sex as a biological variable

LS Nolan - Journal of neuroscience research, 2020 - Wiley Online Library
It has long been known that age‐related hearing loss (ARHL) is more common, more
severe, and with an earlier onset in men compared to women. Even in the absence of …

Constrained chromatin accessibility in PU. 1-mutated agammaglobulinemia patients

C Le Coz, DN Nguyen, C Su, BE Nolan… - Journal of Experimental …, 2021 - rupress.org
The pioneer transcription factor (TF) PU. 1 controls hematopoietic cell fate by decompacting
stem cell heterochromatin and allowing nonpioneer TFs to enter otherwise inaccessible …

NR2F1 mutations cause optic atrophy with intellectual disability

DGM Bosch, FN Boonstra, C Gonzaga-Jauregui… - The American Journal of …, 2014 - cell.com
Optic nerve atrophy and hypoplasia can be primary disorders or can result from trans-
synaptic degeneration arising from cerebral visual impairment (CVI). Here we report six …