Deafness: from genetic architecture to gene therapy
Progress in deciphering the genetic architecture of human sensorineural hearing
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …
Nonsyndromic hearing impairment: unparalleled heterogeneity.
G Van Camp, PJ Willems, RJ Smith - American journal of human …, 1997 - ncbi.nlm.nih.gov
The Past Prior to 1994, only three loci for nonsyndromic hearing impairment (NSHI) had
been identified. In the late 1980s, a sex-linked form of NSHI was mapped to Xql3-q21. 1 in …
been identified. In the late 1980s, a sex-linked form of NSHI was mapped to Xql3-q21. 1 in …
The DNA sequence of human chromosome 21
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes
Down syndrome, the most frequent genetic cause of significant mental retardation, which …
Down syndrome, the most frequent genetic cause of significant mental retardation, which …
Auditory synaptopathy, auditory neuropathy, and cochlear implantation
AE Shearer, MR Hansen - Laryngoscope investigative …, 2019 - Wiley Online Library
Cochlear implantation has become the standard‐of‐care for adults and children with severe
to profound hearing loss. There is growing evidence that qualitative as well as quantitative …
to profound hearing loss. There is growing evidence that qualitative as well as quantitative …
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22. 3
A Paoloni-Giacobino, H Chen, MC Peitsch, C Rossier… - Genomics, 1997 - Elsevier
To contribute to the development of the transcription map of human chromosome 21 (HC21),
we have used exon trapping from pools of HC21-specific cosmids. Using selected trapped …
we have used exon trapping from pools of HC21-specific cosmids. Using selected trapped …
Hereditary deafness and phenotyping in humans
M Bitner-Glindzicz - British medical bulletin, 2002 - academic.oup.com
Hereditary deafness has proved to be extremely heterogeneous genetically with more than
40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal …
40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal …
Molecular genetics of hearing loss
C Petit, J Levilliers, JP Hardelin - Annual review of genetics, 2001 - annualreviews.org
▪ Abstract Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …
Molecular cloning of a novel putative Ca2+ channel protein (TRPC7) highly expressed in brain
K Nagamine, J Kudoh, S Minoshima, K Kawasaki… - Genomics, 1998 - Elsevier
We have isolated cDNA clones for a novel human protein, TRPC7 (transient receptor
potential-related channels), which consists of 1503 amino acid residues from the fetal brain …
potential-related channels), which consists of 1503 amino acid residues from the fetal brain …
Non‐syndromic, autosomal‐recessive deafness
MB Petersen, PJ Willems - Clinical genetics, 2006 - Wiley Online Library
Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …
Human nonsyndromic sensorineural deafness
TB Friedman, AJ Griffith - Annual review of genomics and …, 2003 - annualreviews.org
Given the unique biological requirements of sound transduction and the selective advantage
conferred upon a species capable of sensitive sound detection, it is not surprising that up to …
conferred upon a species capable of sensitive sound detection, it is not surprising that up to …