-
1
-
-
0036581222
-
The GDNF family: signalling, biological functions and therapeutic value
-
Airaksinen M.S., Saarma M. The GDNF family: signalling, biological functions and therapeutic value. Nat. Rev. Neurosci 2002, 3:383-394.
-
(2002)
Nat. Rev. Neurosci
, vol.3
, pp. 383-394
-
-
Airaksinen, M.S.1
Saarma, M.2
-
2
-
-
33845873043
-
Targeted mutation of serine 697 in the Ret tyrosine kinase causes migration defect of enteric neural crest cells
-
Asai N., Fukuda T., Wu Z., Enomoto A., Pachnis V., Takahashi M., Costantini F. Targeted mutation of serine 697 in the Ret tyrosine kinase causes migration defect of enteric neural crest cells. Development 2006, 133:4507-4516.
-
(2006)
Development
, vol.133
, pp. 4507-4516
-
-
Asai, N.1
Fukuda, T.2
Wu, Z.3
Enomoto, A.4
Pachnis, V.5
Takahashi, M.6
Costantini, F.7
-
3
-
-
18444366182
-
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
-
Astuto L.M., Bork J.M., Weston M.D., Askew J.W., Fields R.R., Orten D.J., Ohliger S.J., Riazuddin S., Morell R.J., Khan S., Riazuddin S., Kremer H., van Hauwe P., Moller C.G., Cremers C.W., Ayuso C., Heckenlively J.R., Rohrschneider K., Spandau U., Greenberg J., Ramesar R., Reardon W., Bitoun P., Millan J., Legge R., Friedman T.B., Kimberling W.J. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am. J. Hum. Genet 2002, 71:262-275.
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 262-275
-
-
Astuto, L.M.1
Bork, J.M.2
Weston, M.D.3
Askew, J.W.4
Fields, R.R.5
Orten, D.J.6
Ohliger, S.J.7
Riazuddin, S.8
Morell, R.J.9
Khan, S.10
Riazuddin, S.11
Kremer, H.12
van Hauwe, P.13
Moller, C.G.14
Cremers, C.W.15
Ayuso, C.16
Heckenlively, J.R.17
Rohrschneider, K.18
Spandau, U.19
Greenberg, J.20
Ramesar, R.21
Reardon, W.22
Bitoun, P.23
Millan, J.24
Legge, R.25
Friedman, T.B.26
Kimberling, W.J.27
more..
-
4
-
-
0028862473
-
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
-
Attié T., Till M., Pelet A., Amiel J., Edery P., Boutrand L., Munnich A., Lyonnet S. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum. Mol. Genet 1995, 4:2407-2409.
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 2407-2409
-
-
Attié, T.1
Till, M.2
Pelet, A.3
Amiel, J.4
Edery, P.5
Boutrand, L.6
Munnich, A.7
Lyonnet, S.8
-
5
-
-
0035158639
-
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
-
Bolz H., von Brederlow B., Ramírez A., Bryda E.C., Kutsche K., Nothwang H.G., Seeliger M., del C-Salcedó Cabrera M., Vila M.C., Molina O.P., Gal A., Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat. Genet 2001, 27:108-112.
-
(2001)
Nat. Genet
, vol.27
, pp. 108-112
-
-
Bolz, H.1
von Brederlow, B.2
Ramírez, A.3
Bryda, E.C.4
Kutsche, K.5
Nothwang, H.G.6
Seeliger, M.7
del C-Salcedó Cabrera, M.8
Vila, M.C.9
Molina, O.P.10
Gal, A.11
Kubisch, C.12
-
6
-
-
40849106619
-
Quiet as a mouse: dissecting the molecular and genetic basis of hearing
-
Brown S.D., Hardisty-Hughes R.E., Mburu P. Quiet as a mouse: dissecting the molecular and genetic basis of hearing. Nat. Rev. Genet 2008, 9:277-290.
-
(2008)
Nat. Rev. Genet
, vol.9
, pp. 277-290
-
-
Brown, S.D.1
Hardisty-Hughes, R.E.2
Mburu, P.3
-
7
-
-
0035168151
-
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type
-
Di Palma F., Holme R.H., Bryda E.C., Belyantseva I.A., Pellegrino R., Kachar B., Steel K.P., Noben-Trauth K. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type. Nat. Genet. 1D 2001, 27:103-107.
-
(2001)
Nat. Genet. 1D
, vol.27
, pp. 103-107
-
-
Di Palma, F.1
Holme, R.H.2
Bryda, E.C.3
Belyantseva, I.A.4
Pellegrino, R.5
Kachar, B.6
Steel, K.P.7
Noben-Trauth, K.8
-
8
-
-
33750596636
-
Mechanisms of Disease: cancer targeting and the impact of oncogenic RET for medullary thyroid carcinoma therapy
-
Drosten M., Pützer B.M. Mechanisms of Disease: cancer targeting and the impact of oncogenic RET for medullary thyroid carcinoma therapy. Nat. Clin. Pract. Oncol 2006, 3:564-574.
-
(2006)
Nat. Clin. Pract. Oncol
, vol.3
, pp. 564-574
-
-
Drosten, M.1
Pützer, B.M.2
-
9
-
-
70349144020
-
Roles of disrupted-in-schizophrenia 1-interacting protein girdin in postnatal development of the dentate gyrus
-
Enomoto A., Asai N., Namba T., Wang Y., Kato T., Tanaka M., Tatsumi H., Taya S., Tsuboi D., Kuroda K., Kaneko N., Sawamoto K., Miyamoto R., Jijiwa M., Murakumo Y., Sokabe M., Seki T., Kaibuchi K., Takahashi M. Roles of disrupted-in-schizophrenia 1-interacting protein girdin in postnatal development of the dentate gyrus. Neuron 2009, 63:774-787.
-
(2009)
Neuron
, vol.63
, pp. 774-787
-
-
Enomoto, A.1
Asai, N.2
Namba, T.3
Wang, Y.4
Kato, T.5
Tanaka, M.6
Tatsumi, H.7
Taya, S.8
Tsuboi, D.9
Kuroda, K.10
Kaneko, N.11
Sawamoto, K.12
Miyamoto, R.13
Jijiwa, M.14
Murakumo, Y.15
Sokabe, M.16
Seki, T.17
Kaibuchi, K.18
Takahashi, M.19
-
11
-
-
0034648718
-
Characterization of intracellular signals via tyrosine 1062 in RET activated by glial cell line-derived neurotrophic factor
-
Hayashi H., Ichihara M., Iwashita T., Murakami H., Shimono Y., Kawai K., Kurokawa K., Murakumo Y., Imai T., Funahashi H., Nakao A., Takahashi M. Characterization of intracellular signals via tyrosine 1062 in RET activated by glial cell line-derived neurotrophic factor. Oncogene 2000, 19:4469-4475.
-
(2000)
Oncogene
, vol.19
, pp. 4469-4475
-
-
Hayashi, H.1
Ichihara, M.2
Iwashita, T.3
Murakami, H.4
Shimono, Y.5
Kawai, K.6
Kurokawa, K.7
Murakumo, Y.8
Imai, T.9
Funahashi, H.10
Nakao, A.11
Takahashi, M.12
-
12
-
-
4444296362
-
A novel RFP-RET transgenic mouse model with abundant eumelanin in the cochlea
-
Hayashi H., Sone M., Ito S., Wakamatsu K., Kato M., Nakashima I., Nakashima T. A novel RFP-RET transgenic mouse model with abundant eumelanin in the cochlea. Hear. Res 2004, 195:35-40.
-
(2004)
Hear. Res
, vol.195
, pp. 35-40
-
-
Hayashi, H.1
Sone, M.2
Ito, S.3
Wakamatsu, K.4
Kato, M.5
Nakashima, I.6
Nakashima, T.7
-
13
-
-
34249007508
-
Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies
-
Heanue T.A., Pachnis V. Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies. Nat. Rev. Neurosci 2007, 8:466-479.
-
(2007)
Nat. Rev. Neurosci
, vol.8
, pp. 466-479
-
-
Heanue, T.A.1
Pachnis, V.2
-
14
-
-
4444324911
-
A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia
-
Jijiwa M., Fukuda T., Kawai K., Nakamura A., Kurokawa K., Murakumo Y., Ichihara M., Takahashi M. A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia. Mol. Cell. Biol 2004, 24:8026-8036.
-
(2004)
Mol. Cell. Biol
, vol.24
, pp. 8026-8036
-
-
Jijiwa, M.1
Fukuda, T.2
Kawai, K.3
Nakamura, A.4
Kurokawa, K.5
Murakumo, Y.6
Ichihara, M.7
Takahashi, M.8
-
15
-
-
0033590625
-
Linkage between melanocytic tumor development and early burst of Ret protein expression for tolerance induction in metallothionein-I/ret transgenic mouse lines
-
Kato M., Liu W., Akhand A.A., Dai Y., Ohbayashi M., Tuzuki T., Suzuki H., Isobe K., Takahashi M., Nakashima I. Linkage between melanocytic tumor development and early burst of Ret protein expression for tolerance induction in metallothionein-I/ret transgenic mouse lines. Oncogene 1999, 18:837-842.
-
(1999)
Oncogene
, vol.18
, pp. 837-842
-
-
Kato, M.1
Liu, W.2
Akhand, A.A.3
Dai, Y.4
Ohbayashi, M.5
Tuzuki, T.6
Suzuki, H.7
Isobe, K.8
Takahashi, M.9
Nakashima, I.10
-
16
-
-
0037089461
-
Repair by Src kinase of function-impaired RET with multiple endocrine neoplasia type 2A mutation with substitutions of tyrosines in the COOH-terminal kinase domain for phenylalanine
-
Kato M., Takeda K., Kawamoto Y., Iwashita T., Akhand A.A., Senga T., Yamamoto M., Sobue G., Hamaguchi M., Takahashi M., Nakashima I. Repair by Src kinase of function-impaired RET with multiple endocrine neoplasia type 2A mutation with substitutions of tyrosines in the COOH-terminal kinase domain for phenylalanine. Cancer Res 2002, 62:2414-2422.
-
(2002)
Cancer Res
, vol.62
, pp. 2414-2422
-
-
Kato, M.1
Takeda, K.2
Kawamoto, Y.3
Iwashita, T.4
Akhand, A.A.5
Senga, T.6
Yamamoto, M.7
Sobue, G.8
Hamaguchi, M.9
Takahashi, M.10
Nakashima, I.11
-
17
-
-
77955625744
-
Sensorineural hearing loss, the aging inner ear, and hereditary hearing impairment
-
McGraw-Hill, New York, A.K. Lalwani (Ed.)
-
Lalwani A.K., Gürtler N. Sensorineural hearing loss, the aging inner ear, and hereditary hearing impairment. Current Diagnosis and Treatment in Otolaryngology-Head and Neck Surgery, second ed 2008, 683-704. McGraw-Hill, New York. A.K. Lalwani (Ed.).
-
(2008)
Current Diagnosis and Treatment in Otolaryngology-Head and Neck Surgery, second ed
, pp. 683-704
-
-
Lalwani, A.K.1
Gürtler, N.2
-
18
-
-
33645455616
-
Nuclear factor kappaB deficiency is associated with auditory nerve degeneration and increased noise-induced hearing loss
-
Lang H., Schulte B.A., Zhou D., Smythe N., Spicer S.S., Schmiedt R.A. Nuclear factor kappaB deficiency is associated with auditory nerve degeneration and increased noise-induced hearing loss. J. Neurosci 2006, 26:3541-3550.
-
(2006)
J. Neurosci
, vol.26
, pp. 3541-3550
-
-
Lang, H.1
Schulte, B.A.2
Zhou, D.3
Smythe, N.4
Spicer, S.S.5
Schmiedt, R.A.6
-
19
-
-
33645380163
-
The contribution of associated congenital anomalies in understanding Hirschsprung's disease
-
Moore S.W. The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Pediatr. Surg. Int 2006, 22:305-315.
-
(2006)
Pediatr. Surg. Int
, vol.22
, pp. 305-315
-
-
Moore, S.W.1
-
20
-
-
0031927502
-
Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes
-
Moore S.W., Johnson A.G. Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes. Semin. Pediatr. Surg 1998, 7:156-161.
-
(1998)
Semin. Pediatr. Surg
, vol.7
, pp. 156-161
-
-
Moore, S.W.1
Johnson, A.G.2
-
21
-
-
0042355276
-
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
-
Noben-Trauth K., Zheng Q.Y., Johnson K.R. Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat. Genet 2003, 35:21-23.
-
(2003)
Nat. Genet
, vol.35
, pp. 21-23
-
-
Noben-Trauth, K.1
Zheng, Q.Y.2
Johnson, K.R.3
-
22
-
-
77955649682
-
C-Ret-mediated hearing loss in mice with Hirschsprung disease
-
Ohgami N., Ida M., Shimotake T., Sakashita N., Sone M., Nakashima T., Tabuchi K., Hoshino T., Shimada A., Tsuzuki T., Yamamoto M., Sobue G., Jijiwa M., Asai N., Hara A., Takahashi M., Kato M. c-Ret-mediated hearing loss in mice with Hirschsprung disease. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:13051-13056.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 13051-13056
-
-
Ohgami, N.1
Ida, M.2
Shimotake, T.3
Sakashita, N.4
Sone, M.5
Nakashima, T.6
Tabuchi, K.7
Hoshino, T.8
Shimada, A.9
Tsuzuki, T.10
Yamamoto, M.11
Sobue, G.12
Jijiwa, M.13
Asai, N.14
Hara, A.15
Takahashi, M.16
Kato, M.17
-
23
-
-
17344366171
-
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
-
Pingault V., Bondurand N., Kuhlbrodt K., Goerich D.E., Préhu M.O., Puliti A., Herbarth B., Hermans-Borgmeyer I., Legius E., Matthijs G., Amiel J., Lyonnet S., Ceccherini I., Romeo G., Smith J.C., Read A.P., Wegner M., Goossens M. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat. Genet 1998, 18:171-173.
-
(1998)
Nat. Genet
, vol.18
, pp. 171-173
-
-
Pingault, V.1
Bondurand, N.2
Kuhlbrodt, K.3
Goerich, D.E.4
Préhu, M.O.5
Puliti, A.6
Herbarth, B.7
Hermans-Borgmeyer, I.8
Legius, E.9
Matthijs, G.10
Amiel, J.11
Lyonnet, S.12
Ceccherini, I.13
Romeo, G.14
Smith, J.C.15
Read, A.P.16
Wegner, M.17
Goossens, M.18
-
24
-
-
0036305336
-
Auditory system development: primary auditory neurons and their targets
-
Rubel E.W., Fritzsch B. Auditory system development: primary auditory neurons and their targets. Annu. Rev. Neurosci 2002, 25:51-101.
-
(2002)
Annu. Rev. Neurosci
, vol.25
, pp. 51-101
-
-
Rubel, E.W.1
Fritzsch, B.2
-
25
-
-
65249125855
-
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells
-
Schwander M., Xiong W., Tokita J., Lelli A., Elledge H.M., Kazmierczak P., Sczaniecka A., Kolatkar A., Wiltshire T., Kuhn P., Holt J.R., Kachar B., Tarantino L., Müller U. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:5252-5257.
-
(2009)
Proc. Natl. Acad. Sci. U. S. A.
, vol.106
, pp. 5252-5257
-
-
Schwander, M.1
Xiong, W.2
Tokita, J.3
Lelli, A.4
Elledge, H.M.5
Kazmierczak, P.6
Sczaniecka, A.7
Kolatkar, A.8
Wiltshire, T.9
Kuhn, P.10
Holt, J.R.11
Kachar, B.12
Tarantino, L.13
Müller, U.14
-
26
-
-
0026776419
-
Inbred SAM-P/10 as a mouse model of spontaneous, inherited brain atrophy
-
Shimada A., Ohta A., Akiguchi I., Takeda T. Inbred SAM-P/10 as a mouse model of spontaneous, inherited brain atrophy. J. Neuropathol. Exp. Neurol 1992, 51:440-450.
-
(1992)
J. Neuropathol. Exp. Neurol
, vol.51
, pp. 440-450
-
-
Shimada, A.1
Ohta, A.2
Akiguchi, I.3
Takeda, T.4
-
27
-
-
19544365924
-
Hearing impairment in TRPV4 knockout mice
-
Tabuchi K., Suzuki M., Mizuno A., Hara A. Hearing impairment in TRPV4 knockout mice. Neurosci. Lett 2005, 382:304-308.
-
(2005)
Neurosci. Lett
, vol.382
, pp. 304-308
-
-
Tabuchi, K.1
Suzuki, M.2
Mizuno, A.3
Hara, A.4
-
28
-
-
0034849573
-
The GDNF/RET signaling pathway and human diseases
-
Takahashi M. The GDNF/RET signaling pathway and human diseases. Cytokine Growth Factor Rev 2001, 12:361-373.
-
(2001)
Cytokine Growth Factor Rev
, vol.12
, pp. 361-373
-
-
Takahashi, M.1
-
29
-
-
0033597817
-
Ret-dependent and -independent mechanisms of glial cell line-derived neurotrophic factor signaling in neuronal cells
-
Trupp M., Scott R., Whittemore S.R., Ibáñez C.F. Ret-dependent and -independent mechanisms of glial cell line-derived neurotrophic factor signaling in neuronal cells. J. Biol. Chem 1999, 274:20885-20894.
-
(1999)
J. Biol. Chem
, vol.274
, pp. 20885-20894
-
-
Trupp, M.1
Scott, R.2
Whittemore, S.R.3
Ibáñez, C.F.4
-
30
-
-
0035979832
-
Preserved phosphorylation of RET receptor protein in spinal motor neurons of patients with amyotrophic lateral sclerosis: an immunohistochemical study by a phosphorylation-specific antibody at tyrosine
-
Yamamoto M., Li M., Mitsuma N., Ito S., Kato M., Takahashi M., Sobue G. Preserved phosphorylation of RET receptor protein in spinal motor neurons of patients with amyotrophic lateral sclerosis: an immunohistochemical study by a phosphorylation-specific antibody at tyrosine. Brain Res 2001, 912:89-94.
-
(2001)
Brain Res
, vol.912
, pp. 89-94
-
-
Yamamoto, M.1
Li, M.2
Mitsuma, N.3
Ito, S.4
Kato, M.5
Takahashi, M.6
Sobue, G.7
-
31
-
-
0001633148
-
Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses
-
Zheng Q.Y., Johnson K.R., Erway L.C. Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear. Res 1999, 130:94-107.
-
(1999)
Hear. Res
, vol.130
, pp. 94-107
-
-
Zheng, Q.Y.1
Johnson, K.R.2
Erway, L.C.3
|