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PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
TLDR
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning and it has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD 1, and the family of voltage-activated calcium channels. Expand
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
TLDR
Analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal recessive nonsyndromic deafness indicates that 101T-->C is not sufficient to cause hearing loss. Expand
Defective myosin VIIA gene responsible for Usher syndrome type IB
TLDR
Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome. Expand
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
TLDR
Denaturing high-performance liquid chromatography and direct sequencing of polymerase-chain-reaction products amplified from 10 genetically independent patients with USH2C and 156 other patients withUSH2 identified four isoform-specific VLGR1 mutations from three families with USh2C, as well as two sporadic cases. Expand
Prevalent connexin 26 gene (GJB2) mutations in Japanese
TLDR
It was confirmed that GJB2mutations are an important cause of hearing loss in this population, with three mutations, 235delC, Y136X, and R143W, especially frequent. Expand
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
TLDR
Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region of human chromosome 1q41 that has laminin epidermal growth factor and fibronectin type III motifs. Expand
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease
TLDR
The identification of unalterable maleficent factors such as the PKD1 gene and male gender permit more informed counseling while the identification of alterable factors suchAs hypertension, number of pregnancies and recurrent urinary tract infections provides the clinician with the opportunity to modify these factors and improve the management of patients with autosomal-dominant polycystic kidney disease. Expand
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene
TLDR
It is estimated that about 1 in 500 children are born with a significant hearing loss, and more than 12 recessive genes have been identified primarily from large consanguineous pedigrees, which represents a major aetiologic factor in childhood hearing loss. Expand
Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
TLDR
The findings indicate that mutations in TECTA are responsible for hearing impairment in these families, and implicate a new type of protein in the pathogenesis of hearing impairment. Expand
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
TLDR
Evidence is provided that mutations in PDS cause both syndromic and non-syndromic hearing loss, and seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-SYNDromic sensorineural hearing loss with EVA. Expand
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