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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
mortality as a result of aortic dissection or rupture. Investigations of the pathogenic …