Pages that link to "Q34283866"

The following pages link to A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation (Q34283866):

Displaying 33 items.

• Congenital sensorineural deafness in dalmatian dogs associated with quantitative trait loci (Q21559534) (← links)
• The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein (Q24300486) (← links)
• Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner (Q28511298) (← links)
• Apoptosis in acquired and genetic hearing impairment: the programmed death of the hair cell (Q30461482) (← links)
• In CEM cells the autosomal deafness gene dfna5 is regulated by glucocorticoids and forskolin (Q30488990) (← links)
• Cleavage of DFNA5 by caspase-3 during apoptosis mediates progression to secondary necrotic/pyroptotic cell death (Q30833912) (← links)
• DFNA5, a gene involved in hearing loss and cancer: a review (Q34270661) (← links)
• Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study (Q34508656) (← links)
• The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage (Q34555517) (← links)
• A novel DFNA5 mutation does not cause hearing loss in an Iranian family. (Q34618064) (← links)
• The genetic bases for non-syndromic hearing loss among Chinese (Q35879586) (← links)
• Evidence for a founder mutation causing DFNA5 hearing loss in East Asians (Q36208771) (← links)
• IVS8 1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family (Q36498529) (← links)
• Vestibular function in families with inherited autosomal dominant hearing loss (Q36955586) (← links)
• Therapeutic regulation of gene expression in the inner ear using RNA interference (Q37507085) (← links)
• 'Hints' in the killer protein gasdermin D: unveiling the secrets of gasdermins driving cell death (Q37741018) (← links)
• Genotype phenotype correlations for hearing impairment: approaches to management (Q38189123) (← links)
• Gasdermins: Effectors of Pyroptosis (Q39376467) (← links)
• Phenotype of a Belgian Family With 6p25 Deletion Syndrome (Q39723946) (← links)
• A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. (Q40316456) (← links)
• DFNA5: hearing impairment exon instead of hearing impairment gene? (Q40549918) (← links)
• The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways (Q40667234) (← links)
• Role of DFNA5 in hearing loss and cancer - a comment on Rakusic et al. (Q41447425) (← links)
• The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae (Q42249031) (← links)
• A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. (Q47228958) (← links)
• Exonic mutations and exon skipping: Lessons learned from DFNA5. (Q47265970) (← links)
• A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss (Q50426059) (← links)
• Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion (Q50477964) (← links)
• Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss. (Q55027229) (← links)
• Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss (Q57455558) (← links)
• Gasdermin pores permeabilize mitochondria to augment caspase-3 activation during apoptosis and inflammasome activation (Q64056422) (← links)
• Induction of Pyroptosis and Its Implications in Cancer Management (Q90734711) (← links)
• Gasdermins in Apoptosis: New players in an Old Game (Q92187370) (← links)