Results 21 to 30 of about 12,592,373 (135)

Molecular biology of hearing [PDF]

, 2012
The inner ear is our most sensitive sensory organ and can be subdivided into three functional units: organ of Corti, stria vascularis and spiral ganglion.
Diensthuber, M, Stöver, T, Diensthuber, Marc, Stöver, Timo   +3 more
core   +1 more source

Significance of connexion genes in non-syndromic deafness in Africans [PDF]

, 2013
Includes abstract.
Bosch, Jason
core   +1 more source

Connexin 26 and autosomal recessive non-syndromic hearing loss [PDF]

, 2003
Prelingual deafness occurs with a frequency of 1 in 1000 live births and is divided into syndromic and non-syndromic forms contributing 40 and 60% respectively.
S.R. Phadke, Monisha Mukherjee, B. Mittal   +2 more
core   +1 more source

"Frequency of A Very Rare 35delG Mutation in Two Ethnic Groups of Iranian Populations " [PDF]

Iranian Journal of Public Health, 2004
The 35delG mutation in the Connexin 26 gene (Cx26), at the DNFB1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss (ARNSHL).
R Sasanfar, A Tolouei, A Hoseinipour, DD Farhud, M Dolati, L Hoghooghi Rad, M Montazer Zohour, M Ghadami, H Pour-Jafari, M Hashemzadeh Chaleshtori   +9 more
doaj   +1 more source

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.

PLoS ONE, 2019
The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum ...
Yoh-Ichiro Iwasa, Shin-Ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie, Yuika Sakurai, Rina Matsuoka, Hidehiko Takeda, Satoko Abe, Chiharu Kihara, Takashi Ishino, Shin-Ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Tsukasa Ito, Yasuhiro Arai, Shin-Ichi Usami   +21 more
doaj   +1 more source

Hearing in 44-45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study. [PDF]

, 2012
Background The mitochondrial DNA mutation m.1555A>G predisposes to permanent idiosyncratic aminoglycoside-induced deafness that is independent of dose.
Pearce, K, Rahman, S, Costello, H, Sweeney, MG, Ecob, R, Bitner-Glindzicz, M, Duncan, AJ, Strachan, D, Forge, A, Davis, A   +9 more
core   +1 more source

IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING [PDF]

, 2011
Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
core   +1 more source

GJB2 Mutations Linked to Hearing Loss Exhibit Differential Trafficking and Functional Defects as Revealed in Cochlear-Relevant Cells

Frontiers in Cell and Developmental Biology, 2020
GJB2 gene (that encodes Cx26) mutations are causal of hearing loss highlighting the importance of Cx26-based channel signaling amongst the supporting cells in the organ of Corti.
Rianne Beach, Julia M. Abitbol, Brian L. Allman, Jessica L. Esseltine, Qing Shao, Dale W. Laird   +5 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source