The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort
Clinical Genetics, EarlyView.This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca +13 more
wiley +1 more source
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome
Clinical Genetics, EarlyView.Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato +15 more
wiley +1 more source
Susceptibility to spread of masking in normal and sensorineural hearing-impaired listeners [PDF]
, 1980 Maureen Hannley
openalex +1 more source
Implication of GPRASP2 in the Proliferation and Hair Cell‐Forming of Cochlear Supporting Cells
Cell Proliferation, EarlyView.Schematic diagram of GPRASP2‐mediated SCs proliferation and HCs formation. GPRASP2 deficiency results in increased lysosomal degradation of SMO. GPRASP2‐mediated SMO/GLI1 signalling promotes SC proliferation, which contributes to HC formation. GPRASP2‐mediated SMO/β‐catenin signalling is implicated in HCs fate specification and differentiation ...
Jing Cai +9 more
wiley +1 more source
Perception of stop consonant formant transitions by normal and high-frequency sensorineurally hearing-impaired listeners: Identification and psychoacoustic evidence [PDF]
, 1983 T. Ochs, Larry E. Humes, Ralph N. Ohde
openalex +1 more source
Employment Effects of Army Service and Veterans’ Compensation: Evidence from the Australian Vietnam-Era Conscription Lotteries [PDF]
Exploiting the Australian National Service lotteries of 1965-72, I estimate the effect of Army service on employment outcomes. Population data from military personnel records, tax returns, veterans’ compensation records and the Census facilitate a rich ...
Siminski, Peter
core
Cell Proliferation, EarlyView.Neomycin induces increased expression of Xaf1 in cochlear HCs, triggering PANoptosis, which encompasses pyroptosis, apoptosis and necroptosis (left). Targeted Xaf1 knockdown in HCs through gene therapy can significantly inhibit the occurrence of PANoptosis in HCs (right).
Xinlin Wang +10 more
wiley +1 more source
Relations between frequency selectivity, temporal resolution, and speech intelligibility in sensorineural hearing-impaired subjects [PDF]
, 1988 Kiyoshi Yonemoto +3 more
openalex +1 more source
Epilepsia, EarlyView.Abstract Epilepsy affects approximately 1% of the population worldwide, and although medications are effective in the majority of cases, seizures persist in approximately 30% of patients. Despite the effort to develop new antiseizure drugs, the rate of pharmacoresistance in patients has not diminished over the past 3 decades. There is thus a real unmet
Vincent Magloire +9 more
wiley +1 more source