Walter E. Nance
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View article: Vestibular dysfunction in DFNB1 deafness
Vestibular dysfunction in DFNB1 deafness Open
Mutations of GJB2 and GJB6 (connexin‐26 and 30) at the DFNB1 locus are the most common cause of autosomal recessive, nonsyndromic deafness. Despite their widespread expression throughout the vestibular system, vestibular dysfunction has no…
View article: <i>GJB2</i> Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf
<i>GJB2</i> Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf Open
SUMMARY We screened the GJB2 gene for mutations in 534 (108 multiplex and 426 simplex) probands with non‐syndromic sensorineural deafness, who were ascertained through the only residential school for the deaf in Mongolia, and in 217 hearin…
View article: Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet University
Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet University Open
Summary The genetic fitness of an individual is influenced by their phenotype, genotype and family and social structure of the population in which they live. It is likely that the fitness of deaf individuals was quite low in the Western Eu…
View article: Hypo-Functional<i>SLC26A4</i>variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?
Hypo-Functional<i>SLC26A4</i>variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms? Open
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl(-)/I(-)/HCO(3)(-) exchanger. Pendrin's critical transport substrates are thought to be…
View article: Familial unilateral deafness and delayed endolymphatic hydrops
Familial unilateral deafness and delayed endolymphatic hydrops Open
Delayed endolymphatic hydrops (DEH) is a unique disorder characterized by fluctuating otologic symptoms in the setting of preexisting unilateral deafness. The symptoms include aural fullness, fluctuating hearing, and/or episodes of vertigo…
View article: Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22 Open
A 3,673-bp murine cDNA predicted to encode a glycosylphosphatidylinositol-anchored protein of 1,088 amino acids was isolated during a study aimed at identifying transcripts specifically expressed in the inner ear. This inner ear-specific p…
View article: Novel mutations of <i>TMPRSS3</i> in four DFNB8/B10 families segregating congenital autosomal recessive deafness
Novel mutations of <i>TMPRSS3</i> in four DFNB8/B10 families segregating congenital autosomal recessive deafness Open
Editor—Congenital deafness occurs in approximately 1 in 1000 live births and 50% of these cases are hereditary. Non-syndromic deafness is classified according to its mode of inheritance as DFN, DFNA, and DFNB (X linked, autosomal dominant,…
View article: ANALYSIS OF THE COVARIANCE STRUCTURE OF DIGITAL RIDGE COUNTS IN THE OFFSPRING OF MONOZYGOTIC TWINS
ANALYSIS OF THE COVARIANCE STRUCTURE OF DIGITAL RIDGE COUNTS IN THE OFFSPRING OF MONOZYGOTIC TWINS Open
Improved methods for analysis of covariance structures now permit the rigorous testing of multivariate genetic hypotheses. Using Jöreskog's Lisrel IV computer program we have conducted a confirmatory factor analysis of dermal ridge counts …
View article: A Study of Dietary Intake in Adult Monozygotic Twins
A Study of Dietary Intake in Adult Monozygotic Twins Open
As a part of a study of the dietary habits of monozygotic twins, a nutrition survey including a 24-hour dietary recall interview and a three-day dietary diary was conducted on the members of 15 male and 13 female pairs of identical Caucasi…
View article: Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease)
Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease) Open
The term amyotrophic lateral sclerosis was first introduced by Charcot to describe cases with mixed upper and lower motor neuron signs without sensory impairment. Later the syndromes of progressive bulbar palsy (PBP) and progressive muscul…
View article: New Approaches to the Use of Twins in Biomedical Research
New Approaches to the Use of Twins in Biomedical Research Open
Human geneticists are often accused of being preoccupied with exotic syndromes that are of marginal relevance to the general population. Brilliant success has been achieved during the past two decades in defining the nature and function of…
View article: A Genetic Study of Erythrocyte Arginine-tRNA Synthetase Activity in Man
A Genetic Study of Erythrocyte Arginine-tRNA Synthetase Activity in Man Open
To search for evidence of genetic variation among the aminoacyl-tRNA synthetases, a semi-automated assay procedure employing a Technicon Auto Analyzer was used to measure erythrocyte arginine-tRNA synthetase activity in samples obtained fr…
View article: A Genetic Study of Erythrocyte Arginine-tRNA Synthetase Activity in Man
A Genetic Study of Erythrocyte Arginine-tRNA Synthetase Activity in Man Open
To search for evidence of genetic variation among the aminoacyl-tRNA synthetases, a semi-automated assay procedure employing a Technicon Auto Analyzer was used to measure erythrocyte arginine-tRNA synthetase activity in samples obtained fr…