The complexity of age-related hearing impairment: contributing environmental and genetic factors

E Van Eyken, G Van Camp, L Van Laer - Audiology and Neurotology, 2007 - karger.com
Age-related hearing impairment (ARHI) is the most common sensory impairment seen in the
elderly. It is a complex disorder, with both environmental as well as genetic factors …

[HTML][HTML] Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

JAN Meester, A Verstraeten, D Schepers… - Annals of …, 2017 - ncbi.nlm.nih.gov
Many different heritable connective tissue disorders (HCTD) have been described over the
past decades. These syndromes often affect the connective tissue of various organ systems …

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility

E Gillis, L Van Laer, BL Loeys - Circulation research, 2013 - Am Heart Assoc
Aortic aneurysm, including both abdominal aortic aneurysm and thoracic aortic aneurysm, is
the cause of death of 1% to 2% of the Western population. This review focuses only on …

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

ME Lindsay, D Schepers, NA Bolar, JJ Doyle, E Gallo… - Nature …, 2012 - nature.com
Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth
factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding …

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

LV Laer, EH Huizing, M Verstreken, D Zuijlen… - Nature …, 1998 - nature.com
Nonsyndromic hearing impairment is one of the most heterogeneous hereditary conditions,
with more than 40 loci mapped on the human genome 1, however, only a limited number of …

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

K Verhoeven, LV Laer, K Kirschhofer, PK Legan… - Nature …, 1998 - nature.com
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia
bundles of specialized sensory hair cells. Sound induces movement of these hair cells …

[HTML][HTML] Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective …

E Fransen, V Topsakal, JJ Hendrickx… - Journal of the …, 2008 - Springer
A multicenter study was set up to elucidate the environmental and medical risk factors
contributing to age-related hearing impairment (ARHI). Nine subsamples, collected by nine …

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

S Delmaghani, FJ del Castillo, V Michel, M Leibovici… - Nature …, 2006 - nature.com
Auditory neuropathy is a particular type of hearing impairment in which neural transmission
of the auditory signal is impaired, while cochlear outer hair cells remain functional. Here we …

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

KN Alagramam, H Yuan, MH Kuehn… - Human molecular …, 2001 - academic.oup.com
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two
families segregating for this type of syndromic deafness. By fluorescence in situ …

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

AM Bertoli-Avella, E Gillis, H Morisaki… - Journal of the American …, 2015 - jacc.org
Background: Aneurysms affecting the aorta are a common condition associated with high
mortality as a result of aortic dissection or rupture. Investigations of the pathogenic …