Results 61 to 70 of about 1,850 (127)

Genetics of hearing loss in africans: use of next generation sequencing is the best way forward

The Pan African Medical Journal, 2015
Hearing loss is the most common communication disorder affecting about 1-7/1000 births worldwide. The most affected areas are developing countries due toextensively poor health care systems.
Kamogelo Lebeko, Jason Bosch, Jean Jacques Nzeale Noubiap, Collet Dandara, Ambroise Wonkam   +4 more
doaj   +1 more source

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations

Brazilian Journal of Otorhinolaryngology
Introduction: Several studies have associated congenital sensorineural hearing loss in children with prolongation of the cardiac parameter QTc. The cause of this association is unknown.
Agnieszka Sanecka, Elzbieta Katarzyna Biernacka, Magdalena Sosna, Malgorzata Mueller-Malesinska, Rafal Ploski, Henryk Skarzynski, Ryszard Piotrowicz   +6 more
doaj   +1 more source

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

BMC Genomics
Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small ( 90 dB SPL) that correlates with specific structural abnormalities in the cochlea.
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J. del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio del Castillo   +11 more
doaj   +1 more source

Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss

Therapeutics and Clinical Risk Management, 2016
Maryam Balali,1,2 Behnam Kamalidehghan,3 Mohammad Farhadi,2 Fatemeh Ahmadipour,4 Mahmoud Dehghani Ashkezari,1 Mohsen Rezaei Hemami,2 Hossein Arabzadeh,2 Masoumeh Falah,2 Goh Yong Meng,5 Massoud Houshmand3 1Department of Biology, Islamic Azad University,
Balali M, Kamalidehghan B, Farhadi M, Ahmadipour F, Ashkezari MD, Hemami MR, Arabzadeh H, Falah M, Meng GY, Houshm, M   +10 more
doaj  

Luminal epithelial cells integrate variable responses to aging into stereotypical changes that underlie breast cancer susceptibility

eLife
Effects from aging in single cells are heterogenous, whereas at the organ- and tissue-levels aging phenotypes tend to appear as stereotypical changes. The mammary epithelium is a bilayer of two major phenotypically and functionally distinct cell lineages:
Rosalyn W Sayaman, Masaru Miyano, Eric G Carlson, Parijat Senapati, Arrianna Zirbes, Sundus F Shalabi, Michael E Todhunter, Victoria E Seewaldt, Susan L Neuhausen, Martha R Stampfer, Dustin E Schones, Mark A LaBarge   +11 more
doaj   +1 more source

Expressional and functional involvement of gap junctions in aqueous humor outflow into the ocular trabecular meshwork of the anterior chamber

Molecular Vision, 2019
Purpose: The ocular trabecular meshwork (TM) responsible for aqueous humor (AH) drainage is crucial for regulating intraocular pressure (IOP) of the eye.
Hongxia, Yongzhen, Wenshi, Xia , Xian , Xiaojing , KeWei, Wei   +7 more
doaj  

Clouston Syndrome: First Case in Russia

Balkan Journal of Medical Genetics, 2012
Marakhonov A, Skoblov M, Galkina V, Zinchenko R   +3 more
doaj   +1 more source

Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochlea. [PDF]

Nat Commun
Ivanchenko MV, Booth KTA, Karavitaki KD, Antonellis LM, Nagy MA, Peters CW, Price S, Li Y, Lytvyn A, Ward A, Griffith EC, Hrvatin S, Greenberg ME, Corey DP.   +13 more
europepmc   +1 more source

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies. [PDF]

Int J Mol Sci
Morris JA, Gonzalez T, Blanton SH, Angeli SI, Liu XZ.   +4 more
europepmc   +1 more source

Precision Diagnostics in Age-Related Hearing Loss: Emerging Molecular Biomarkers for Early Detection and Targeted Prevention. [PDF]

Int J Gen Med
Xia Z, Lin C, Wu Y, Liu H, Wu L, Shen Z.
europepmc   +1 more source