[HTML][HTML] Autosomal recessive nonsyndromic deafness genes: a review
More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
Six reference-quality genomes reveal evolution of bat adaptations
Bats possess extraordinary adaptations, including flight, echolocation, extreme longevity
and unique immunity. High-quality genomes are crucial for understanding the molecular …
and unique immunity. High-quality genomes are crucial for understanding the molecular …
Genetics of non-syndromic hearing loss in the Middle East
H Najmabadi, K Kahrizi - International journal of pediatric …, 2014 - Elsevier
Hearing impairment is the most common sensory disorder, present 1 in every 500 newborns.
About 80% of genetic HL is classified as non-syndromic deafness. To date, over 115 non …
About 80% of genetic HL is classified as non-syndromic deafness. To date, over 115 non …
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis,
blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen …
blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen …
Analysis of genetic dominance in the UK Biobank
Classical statistical genetics theory defines dominance as any deviation from a purely
additive, or dosage, effect of a genotype on a trait, which is known as the dominance …
additive, or dosage, effect of a genotype on a trait, which is known as the dominance …
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we
present OTOGL mutations, a homozygous one base pair deletion (c. 1430 delT) causing a …
present OTOGL mutations, a homozygous one base pair deletion (c. 1430 delT) causing a …
[HTML][HTML] Genetic hearing loss and gene therapy
NT Carpena, MY Lee - Genomics & informatics, 2018 - ncbi.nlm.nih.gov
Genetic hearing loss crosses almost all the categories of hearing loss which includes the
following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital …
following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital …
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey
More than 60% of prelingual deafness is genetic in origin, and of these up to 95% are
monogenic autosomal recessive traits. Causal mutations have been identified in 1 of 38 …
monogenic autosomal recessive traits. Causal mutations have been identified in 1 of 38 …
Global analysis of protein expression of inner ear hair cells
AE Hickox, ACY Wong, K Pak, C Strojny… - Journal of …, 2017 - Soc Neuroscience
The mammalian inner ear (IE) subserves auditory and vestibular sensations via highly
specialized cells and proteins. Sensory receptor hair cells (HCs) are necessary for …
specialized cells and proteins. Sensory receptor hair cells (HCs) are necessary for …
Using population admixture to help complete maps of the human genome
Tens of millions of base pairs of euchromatic human genome sequence, including many
protein-coding genes, have no known location in the human genome. We describe an …
protein-coding genes, have no known location in the human genome. We describe an …