Biology Reference
In-Depth Information
Street VA, McKee-Johnson JW, Fonseca RC, Tempel BL, Noben-Trauth K (1998)
Mutations in the plasma membrane Ca2+-ATPase gene cause deafness in deaf-
waddler mice. Nat Genet 19:390-394.
Tachibana M, Takeda K, Nobukuni Y, Urabe K, Long JE, Meyers KA, Aaronson
SA, Miki T (1996) Ectopic expression of MITF, a gene for Waardenburg syndrome
type 2, converts fibroblasts to cells with melanocyte characteristics. Nat Genet
14:50-54.
Tassabehji M, Newton VE, Read AP (1994) Waardenburg syndrome type 2 caused
by mutations in the human microphthalmia (MITF) gene. Nat Genet 8:251-
255.
Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee
MK, Skvorak AB, Friedman TB, King M-C, Avraham KB (1998) Mutation in the
transcription factor
POU4F3
associated with inherited progressive hearing loss
in humans. Science 279:1950-1954.
Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I,
Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers
FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems
PJ, Govaerts PJ, Van Camp G (1998) Mutations in the human alpha-tectorin
gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet
19:60-62.
Wang DG, Fan J-B, Siao C-J, Berno A, Young P, Sapolsky R, Ghandour G, Perkins
N, Winchester E, Spencer J, Kruglyak L, Stein L, Hsie L, Topaloglou T, Hubbell
E, Robinson E, Mittmann M, Morris MS, Shen N, Kilburn D, Rioux J, Nusbaum
C, Rozen S, Hudson TJ, Lipshutz R, Chee M, Lander ES (1998a) Large-scale iden-
tification, mapping, and genotyping of single-nucleotide polymorphisms in the
human genome. Science 280:1077-1082.
Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC,
Morell RJ, Noben-Trauth K, Camper SA, and Friedman TB (1998b) Association
of unconventional myosin
MYO15
mutations with human nonsyndromic deafness
DFNB3
. Science 280:1447-1451.
Watanabe A, Takeda K, Ploplis B, Tachibana M (1998) Epistatic relationship
between Waardenburg syndrome genes MITF and PAX3. Nat Genet 18:283-
286.
Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C
(1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syn-
drome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191-193.
Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY,
Corey DP, Mooseker MS, Sumegi J, Cremers C, Moller C, Jacobsen SG, Gorin
MB, Kimberling WJ (1996) Myosin VIIA mutation screening in 189 Usher syn-
drome Type 1 patients. Am J Hum Genet 59:1074-1083.
Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX,
Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY,
Xie DH, Huang JZ (1998) Mutations in the gene encoding gap junction protein
beta-3 associated with autosomal dominant hearing impairment. Nat Genet
20:370-373.
Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N,
El-Zir E, Loiselet J, Petit C (1999) A mutation in OTOF, encoding otoferlin, a
FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet
21:363-369.
