Results 41 to 50 of about 145,362 (297)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Cisplatin is retained in the cochlea indefinitely following chemotherapy

Nature Communications, 2017
Permanent hearing loss occurs in many cancer patients treated with cisplatin. In this study, the authors examine cisplatin pharmacokinetics in the cochleae of mice and humans showing that cisplatin is retained for months to years after treatment.
Andrew M. Breglio, Aaron E. Rusheen, Eric D. Shide, Katharine A. Fernandez, Katie K. Spielbauer, Katherine M. McLachlin, Matthew D. Hall, Lauren Amable, Lisa L. Cunningham   +8 more
doaj   +1 more source

Synaptic mitochondria regulate hair-cell synapse size and function

eLife, 2019
Sensory hair cells in the ear utilize specialized ribbon synapses. These synapses are defined by electron-dense presynaptic structures called ribbons, composed primarily of the structural protein Ribeye.
Hiu-tung C Wong, Qiuxiang Zhang, Alisha J Beirl, Ronald S Petralia, Ya-Xian Wang, Katie Kindt   +5 more
doaj   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Feline Deafness [PDF]

Veterinary Clinics of North America: Small Animal Practice, 2012
Cats have among the best hearing of all mammals in that they are extremely sensitive to a broad range of frequencies. The ear is a highly complex structure that is delicately balanced in terms of its biochemistry, types of receptors, ion channels, mechanical properties, and cellular organization.
David K, Ryugo, Marilyn, Menotti-Raymond
openaire   +2 more sources

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Deafness gene screening based on a multilevel cascaded BPNN model

BMC Bioinformatics, 2023
Sudden sensorineural hearing loss is a common and frequently occurring condition in otolaryngology. Existing studies have shown that sudden sensorineural hearing loss is closely associated with mutations in genes for inherited deafness. To identify these
Xiao Liu, Li Teng, Wenqi Zuo, Shixun Zhong, Yuqiao Xu, Jing Sun   +5 more
doaj   +1 more source

A novel inhaled anesthesia technique for concurrent direct laryngoscopy in rats

Animal Models and Experimental Medicine, EarlyView.
Our novel nose cone anesthetic technique allows the use of gas anesthesia during concurrent direct laryngoscopy. Inhaled anesthesia not only has a better safety profile for rats, but also increases lab efficiency when compared to injectable anesthesia. Abstract The current anesthetic standard for laryngoscopy in rats utilizes injectable intraperitoneal
Corinne Negvesky, Amin Mirzaaghasi, Eric M. Smith, Ashley E. Kita   +3 more
wiley   +1 more source

Differential roles of EA‐TRAPed cells in the anterior cingulate cortex across various intervention times in inflammatory pain

Animal Models and Experimental Medicine, EarlyView.
The cumulative effect of EA analgesia is partially attributed to the activation of EA‐TRAPed cells in ACC. Multiple EA sessions and single EA sessions activated different neuronal populations in the ACC. The enhanced analgesic effect of multiple EA sessions may be attributed to an increase in the proportion of GABAergic neurons within the ACC. Abstract
Zi Guo, Ru Ye, Lu Guan, Wei He, Shuang Qiu, Xiaomei Shao, Junfan Fang, Jianqiao Fang, Junying Du   +8 more
wiley   +1 more source

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Genetics and Molecular Biology, 2006
Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness
Raquel Rabionet, Estela Morales-Peralta, Núria López-Bigas, Maria Lourdes Arbonés, Xavier Estivill   +4 more
doaj   +1 more source