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SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
A combination of bioinformatics, yeast genetics, biochemistry, and human genetics was used to show that a previously uncharacterized mitochondrial protein (Sdh5) is required for the activity of respiratory complex II, leading to the discovery of a human tumor susceptibility gene.
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
It is demonstrated that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis.
GJB2 mutations and degree of hearing loss: a multicenter study.
- R. Snoeckx, P. Huygen, G. Van Camp
- Medicine, BiologyAmerican journal of human genetics
- 1 December 2005
The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
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.
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
The findings reported here confirm that NOG is essential for joint formation and suggest that Nog requirements during skeletogenesis differ between species and between specific skeletal elements within species.
Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter…
- E. Fransen, V. Topsakal, G. Van Camp
- MedicineJournal of the Association for Research in…
- 10 June 2008
The results suggest that a healthy lifestyle can protect against age-related hearing impairment and smoking significantly increased high-frequency hearing loss, and the effect was dose-dependent.
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
The presence of pathogenic mutations in the novel exons indicates that at least one of the putative long isoforms of the USH2A protein plays a role in both hearing and vision.
Mutations in different components of FGF signaling in LADD syndrome
Heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 in LADD families, and in one further LADD family, are detected, increasing the spectrum of anomalies associated with abnormal FGF signaling.
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
Bone-Anchored Hearing Aids in Unilateral Inner Ear Deafness: An Evaluation of Audiometric and Patient Outcome Measurements
- M. Hol, A. Bosman, A. Snik, E. Mylanus, C. Cremers
- MedicineOtology & neurotology : official publication of…
- 1 September 2005
The poor sound-localization results in an audiologic test setting illustrated the inability of patients with unilateral inner ear deafness to localize sounds.