Results 111 to 120 of about 842,718 (302)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A mouse model of mechanical stress injury to the basal ganglia using thermosensitive PNIPAM hydrogel for intracerebral hemorrhage research

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a novel mouse model of intracerebral hemorrhage (ICH) by stereotactically injecting thermosensitive PNIPAM hydrogel into the internal capsule to impose localized mechanical stress on the corticospinal tract, which provides a straightforward and reproducible tool for preclinical studies on focal mechanical stress–induced ...
Mingxi Li, Yujie Chen, Rongsu Huang, Min Xia, Chao Mi, Yuan Tian, Peiwen Guo, Taotao Jin, Shilei Hao, Hua Feng, Yujie Chen, Zhi Chen   +11 more
wiley   +1 more source

Functional and Morphological characterization of NOD-SCID inner ear

, 2013
OBJECTIVE. Sensorineural hearing impairment is a consequence of hair cells (HC) and/or spiral ganglion neurons loss. In mammals, HCs are unable to regenerate, so their loss cause irreversible damages.
ASTOLFI, LAURA, V. Guaran, F. Valente, OLIVETTO, ELENA, MARTINI, ALESSANDRO, P. Giordano, SIMONI, EDI   +6 more
core  

The morphology of the oval window in Paranthropus robustus compared to humans and other modern primates

The Anatomical Record, EarlyView.
Abstract The oval window (OW) is an opening connecting the inner and middle ear. Its area has been shown to consistently scale with body mass (BM) in primates, and has been used alongside semi‐circular canal (SCC) size to differentiate Homo sapiens and fossil hominins, including Paranthropus robustus.
Ruy Fernandez, José Braga
wiley   +1 more source

Are there morpho‐acoustic patterns of adaptation in nonhuman primate ears? Testing the role of ecology and habitat in shaping ear morphology and function

The Anatomical Record, EarlyView.
Abstract Analysis of the variation in the bony structures of the inner and middle ear provides critical insights into functional morphology, as well as adaptive morphology across primates. In this study, we investigated whether ear morphology patterns are related to the ecological characteristics of species and their habitats to test two acoustic ...
Myriam Marsot, Rémi Laffont, Émilie Steimetz, Patricia Balaresque, Sébastien Couette   +4 more
wiley   +1 more source

Non conventional signal transmission at the mouse vestibular Type I hair cell - calyx synapse

, 2018
Vestibular sensory epithelia of Amniotes contain two types of hair cells, Type I and Type II, which differ in electrophysiological properties and synaptic contacts. Type I hair cells alone express a low-voltage activated outward rectifying K+ conductance,
Sergio Masetto, Elisa Tavazzani, Marco Manca, Giancarlo Russo, Paolo Spaiardi, Ivo Prigioni   +5 more
core  

Developmental gene expression profile of Vmo1 in the mouse auditory system [PDF]

, 2013
Hearing loss (HL) is a sensory disorder that affects an estimated 250 million people worldwide and can greatly affect quality of life. In New Zealand, more than 10% of the population is affected by HL with the Māori population being overrepresented among
Forrester-Gauntlett, Blaise Kelly Erin
core  

Inner-Ear Disorders Presenting with Air–Bone Gaps: A Review

, 2020
Air–bone gaps (ABGs) are commonly found in patients with conductive or mixed hearing loss generally due to outer- and/or middle-ear diseases such as otitis externa, tympanic membrane perforation, interruption or fixation of the ossicular chain, and ...
Cavaliere, Matteo, CASSANDRO, Ettore, Matteo Cavaliere, Arianna Di Stadio, cassandro, claudia, Stadio, Arianna Di, Marco de Vincentiis, Di Stadio, Arianna, Gioacchini, Federico Maria, Ettore Cassandro, Troisi, Donato, Antonio Greco, Massimo Ralli, Scarpa, Alfonso, greco, antonio, Federico Maria Gioacchini, Claudia Cassandro, Ralli, Massimo, Alfonso Scarpa, de Vincentiis, marco, Donato Troisi   +20 more
core   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source