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Clinical Genetics

Volumn 81, Issue 5, 2012, Pages 498-500

DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3

(7) Ali, Ra a Rehman, Au b Khan, Sn a,c Husnain, T a Riazuddin, S a,c,d,e Friedman, Tb b Ahmed, Zm a,d,e

a UNIVERSITY OF THE PUNJAB (Pakistan)

b NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS (United States)

c UNIVERSITY OF HEALTH SCIENCES (Pakistan)

d UNIVERSITY OF CINCINNATI (United States)

e UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GROWTH FACTOR;

5' UNTRANSLATED REGION; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BONE CONDUCTION; CHROMOSOME 16P; CHROMOSOME MARKER; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; INFORMED CONSENT; INTRON; LETTER; LINKAGE ANALYSIS; MICROSATELLITE MARKER; NONSYNDROMIC DEAFNESS; OXIDATIVE STRESS; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PHYLOGENY; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SHORT TANDEM REPEAT; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 16; CONSANGUINITY; DEAFNESS; FEMALE; GENES, RECESSIVE; GENETIC LOCI; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; YOUNG ADULT;

EID: 84859624294 PISSN: 00099163 EISSN: 13990004 Source Type: Journal
DOI: 10.1111/j.1399-0004.2011.01729.x Document Type: Letter

Times cited : (10)

References (9)

1
- 33751311301
- Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
- Ducroq D, Shalev S, Habib A et al. Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. Eur J Hum Genet 2006: 14: 1269-1273.
- (2006) Eur J Hum Genet , vol.14 , pp. 1269-1273
- Ducroq, D.¹ Shalev, S.² Habib, A.³

2
- 68249121051
- Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
- Riazuddin S, Anwar S, Fischer M et al. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet 2009: 85: 273-280.
- (2009) Am J Hum Genet , vol.85 , pp. 273-280
- Riazuddin, S.¹ Anwar, S.² Fischer, M.³

3
- 78650904238
- Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
- Ahmed ZM, Yousaf R, Lee BC et al. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet 2011: 88: 19-29.
- (2011) Am J Hum Genet , vol.88 , pp. 19-29
- Ahmed, Z.M.¹ Yousaf, R.² Lee, B.C.³

4
- 10744222330
- Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
- Ben-Yosef T, Belyantseva IA, Saunders TL et al. Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet 2003: 12: 2049-2061.
- (2003) Hum Mol Genet , vol.12 , pp. 2049-2061
- Ben-Yosef, T.¹ Belyantseva, I.A.² Saunders, T.L.³

5
- 4143135446
- Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function.
- Gow A, Davies C, Southwood CM et al. Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function. J Neurosci 2004: 24: 7051-7062.
- (2004) J Neurosci , vol.24 , pp. 7051-7062
- Gow, A.¹ Davies, C.² Southwood, C.M.³

6
- 70149108589
- A claudin-9-based ion permeability barrier is essential for hearing.
- Nakano Y, Kim SH, Kim HM et al. A claudin-9-based ion permeability barrier is essential for hearing. PLoS Genet 2009: 5: e1000610.
- (2009) PLoS Genet , vol.5
- Nakano, Y.¹ Kim, S.H.² Kim, H.M.³

7
- 33845190613
- Tricellulin is a tight-junction protein necessary for hearing.
- Riazuddin S, Ahmed ZM, Fanning AS et al. Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet 2006: 79: 1040-1051.
- (2006) Am J Hum Genet , vol.79 , pp. 1040-1051
- Riazuddin, S.¹ Ahmed, Z.M.² Fanning, A.S.³

8
- 17744380785
- Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
- Wilcox ER, Burton QL, Naz S et al. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 2001: 104: 165-172.
- (2001) Cell , vol.104 , pp. 165-172
- Wilcox, E.R.¹ Burton, Q.L.² Naz, S.³

9
- 77649238270
- Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
- Rehman AU, Morell RJ, Belyantseva IA et al. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet 2010: 86: 378-388.
- (2010) Am J Hum Genet , vol.86 , pp. 378-388
- Rehman, A.U.¹ Morell, R.J.² Belyantseva, I.A.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.