-
1
-
-
0037221588
-
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues
-
Abe S., Katagiri T., Saito-Hisaminato A., Usami S., Inoue Y., Tsunoda T., et al. Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. American Journal of Human Genetics 72 1 (2003) 73-82
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.1
, pp. 73-82
-
-
Abe, S.1
Katagiri, T.2
Saito-Hisaminato, A.3
Usami, S.4
Inoue, Y.5
Tsunoda, T.6
-
2
-
-
31644450584
-
SALL1 mutation analysis in Townes-Brocks syndrome: Twelve novel mutations and expansion of the phenotype
-
Botzenhart E.M., Green A., Ilyina H., Konig R., Lowry R.B., Lo I.F., et al. SALL1 mutation analysis in Townes-Brocks syndrome: Twelve novel mutations and expansion of the phenotype. Human Mutation 26 3 (2005) 282
-
(2005)
Human Mutation
, vol.26
, Issue.3
, pp. 282
-
-
Botzenhart, E.M.1
Green, A.2
Ilyina, H.3
Konig, R.4
Lowry, R.B.5
Lo, I.F.6
-
3
-
-
12144269981
-
The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes
-
Chen J., Rattner A., and Nathans J. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. The Journal of Neuroscience 25 1 (2005) 118-129
-
(2005)
The Journal of Neuroscience
, vol.25
, Issue.1
, pp. 118-129
-
-
Chen, J.1
Rattner, A.2
Nathans, J.3
-
4
-
-
0030781996
-
Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes
-
Chen S., Wang Q.L., Nie Z., Sun H., Lennon G., Copeland N.G., et al. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron 19 5 (1997) 1017-1030
-
(1997)
Neuron
, vol.19
, Issue.5
, pp. 1017-1030
-
-
Chen, S.1
Wang, Q.L.2
Nie, Z.3
Sun, H.4
Lennon, G.5
Copeland, N.G.6
-
5
-
-
33747884762
-
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development
-
Cheng H., Aleman T.S., Cideciyan A.V., Khanna R., Jacobson S.G., and Swaroop A. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Human Molecular Genetics 15 17 (2006) 2588-2602
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.17
, pp. 2588-2602
-
-
Cheng, H.1
Aleman, T.S.2
Cideciyan, A.V.3
Khanna, R.4
Jacobson, S.G.5
Swaroop, A.6
-
6
-
-
16544370330
-
Molecular genetics of colour vision deficiencies
-
Deeb S.S. Molecular genetics of colour vision deficiencies. Clinical & Experimental Optometry 87 4-5 (2004) 224-229
-
(2004)
Clinical & Experimental Optometry
, vol.87
, Issue.4-5
, pp. 224-229
-
-
Deeb, S.S.1
-
7
-
-
33646535411
-
Mutually exclusive expression of the L and M pigment genes in the human retinoblastoma cell line WERI: Resetting by cell division
-
Deeb S.S., Liu Y., and Hayashi T. Mutually exclusive expression of the L and M pigment genes in the human retinoblastoma cell line WERI: Resetting by cell division. Visual Neuroscience 23 3-4 (2006) 371-378
-
(2006)
Visual Neuroscience
, vol.23
, Issue.3-4
, pp. 371-378
-
-
Deeb, S.S.1
Liu, Y.2
Hayashi, T.3
-
8
-
-
0031726862
-
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa
-
Fariss R.N., Apte S.S., Luthert P.J., Bird A.C., and Milam A.H. Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. The British Journal of Ophthalmology 82 11 (1998) 1329-1334
-
(1998)
The British Journal of Ophthalmology
, vol.82
, Issue.11
, pp. 1329-1334
-
-
Fariss, R.N.1
Apte, S.S.2
Luthert, P.J.3
Bird, A.C.4
Milam, A.H.5
-
9
-
-
0035702538
-
Transgenic expression of the jellyfish green fluorescent protein in the cone photoreceptors of the mouse
-
Fei Y., and Hughes T.E. Transgenic expression of the jellyfish green fluorescent protein in the cone photoreceptors of the mouse. Visual Neuroscience 18 4 (2001) 615-623
-
(2001)
Visual Neuroscience
, vol.18
, Issue.4
, pp. 615-623
-
-
Fei, Y.1
Hughes, T.E.2
-
10
-
-
0030669568
-
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
-
Freund C.L., Gregory-Evans C.Y., Furukawa T., Papaioannou M., Looser J., Ploder L., et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91 4 (1997) 543-553
-
(1997)
Cell
, vol.91
, Issue.4
, pp. 543-553
-
-
Freund, C.L.1
Gregory-Evans, C.Y.2
Furukawa, T.3
Papaioannou, M.4
Looser, J.5
Ploder, L.6
-
11
-
-
0030725687
-
Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
-
Furukawa T., Morrow E.M., and Cepko C.L. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 91 4 (1997) 531-541
-
(1997)
Cell
, vol.91
, Issue.4
, pp. 531-541
-
-
Furukawa, T.1
Morrow, E.M.2
Cepko, C.L.3
-
12
-
-
0032749223
-
Retinopathy and attenuated circadian entrainment in Crx-deficient mice
-
Furukawa T., Morrow E.M., Li T., Davis F.C., and Cepko C.L. Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nature Genetics 23 4 (1999) 466-470
-
(1999)
Nature Genetics
, vol.23
, Issue.4
, pp. 466-470
-
-
Furukawa, T.1
Morrow, E.M.2
Li, T.3
Davis, F.C.4
Cepko, C.L.5
-
13
-
-
18244397978
-
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles
-
Huang Y., Prasad M., Lemon W.J., Hampel H., Wright F.A., Kornacker K., et al. Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proceedings of the National Academy of Sciences of the United States of America 98 26 (2001) 15044-15049
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.26
, pp. 15044-15049
-
-
Huang, Y.1
Prasad, M.2
Lemon, W.J.3
Hampel, H.4
Wright, F.A.5
Kornacker, K.6
-
14
-
-
13944273001
-
Gene expression profile of papillary thyroid cancer: Sources of variability and diagnostic implications
-
Jarzab B., Wiench M., Fujarewicz K., Simek K., Jarzab M., Oczko-Wojciechowska M., et al. Gene expression profile of papillary thyroid cancer: Sources of variability and diagnostic implications. Cancer Research 65 4 (2005) 1587-1597
-
(2005)
Cancer Research
, vol.65
, Issue.4
, pp. 1587-1597
-
-
Jarzab, B.1
Wiench, M.2
Fujarewicz, K.3
Simek, K.4
Jarzab, M.5
Oczko-Wojciechowska, M.6
-
15
-
-
0028943732
-
Increased expression of retinal TIMP3 mRNA in simplex retinitis pigmentosa is localized to photoreceptor-retaining regions
-
Jomary C., Neal M.J., and Jones S.E. Increased expression of retinal TIMP3 mRNA in simplex retinitis pigmentosa is localized to photoreceptor-retaining regions. Journal of Neurochemistry 64 5 (1995) 2370-2373
-
(1995)
Journal of Neurochemistry
, vol.64
, Issue.5
, pp. 2370-2373
-
-
Jomary, C.1
Neal, M.J.2
Jones, S.E.3
-
16
-
-
0028025373
-
Expression of TIMP3 mRNA is elevated in retinas affected by simplex retinitis pigmentosa
-
Jones S.E., Jomary C., and Neal M.J. Expression of TIMP3 mRNA is elevated in retinas affected by simplex retinitis pigmentosa. FEBS Letters 352 2 (1994) 171-174
-
(1994)
FEBS Letters
, vol.352
, Issue.2
, pp. 171-174
-
-
Jones, S.E.1
Jomary, C.2
Neal, M.J.3
-
17
-
-
23744445796
-
Thyroid hormone action in the heart
-
Kahaly G.J., and Dillmann W.H. Thyroid hormone action in the heart. Endocrine Reviews 26 5 (2005) 704-728
-
(2005)
Endocrine Reviews
, vol.26
, Issue.5
, pp. 704-728
-
-
Kahaly, G.J.1
Dillmann, W.H.2
-
18
-
-
0031786678
-
Serological reactivity of recombinant 1D autoantigen and its expression in human thyroid and eye muscle tissue: A possible autoantigenic link in Graves' patients
-
Kromminga A., Hagel C., Arndt R., and Schuppert F. Serological reactivity of recombinant 1D autoantigen and its expression in human thyroid and eye muscle tissue: A possible autoantigenic link in Graves' patients. The Journal of Clinical Endocrinology and Metabolism 83 8 (1998) 2817-2823
-
(1998)
The Journal of Clinical Endocrinology and Metabolism
, vol.83
, Issue.8
, pp. 2817-2823
-
-
Kromminga, A.1
Hagel, C.2
Arndt, R.3
Schuppert, F.4
-
19
-
-
0032479305
-
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation
-
Langton K.P., Barker M.D., and McKie N. Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. The Journal of Biological Chemistry 273 27 (1998) 16778-16781
-
(1998)
The Journal of Biological Chemistry
, vol.273
, Issue.27
, pp. 16778-16781
-
-
Langton, K.P.1
Barker, M.D.2
McKie, N.3
-
20
-
-
0037336106
-
Gene expression networks underlying retinoic acid-induced differentiation of human retinoblastoma cells
-
Li A., Zhu X., Brown B., and Craft C.M. Gene expression networks underlying retinoic acid-induced differentiation of human retinoblastoma cells. Investigative Ophthalmology & Visual Science 44 3 (2003) 996-1007
-
(2003)
Investigative Ophthalmology & Visual Science
, vol.44
, Issue.3
, pp. 996-1007
-
-
Li, A.1
Zhu, X.2
Brown, B.3
Craft, C.M.4
-
21
-
-
3442891771
-
Thyroid hormone positively regulates the enterocyte differentiation marker intestinal alkaline phosphatase gene via an atypical response element
-
Malo M.S., Zhang W., Alkhoury F., Pushpakaran P., Abedrapo M.A., Mozumder M., et al. Thyroid hormone positively regulates the enterocyte differentiation marker intestinal alkaline phosphatase gene via an atypical response element. Molecular Endocrinology 18 8 (2004) 1941-1962
-
(2004)
Molecular Endocrinology
, vol.18
, Issue.8
, pp. 1941-1962
-
-
Malo, M.S.1
Zhang, W.2
Alkhoury, F.3
Pushpakaran, P.4
Abedrapo, M.A.5
Mozumder, M.6
-
22
-
-
0017556884
-
Typical monochromacy, congenital deafness, and resistance to intracellular action of thyroid hormone (Author's Trans.)
-
Newell F.W., and Diddie K.R. Typical monochromacy, congenital deafness, and resistance to intracellular action of thyroid hormone (Author's Trans.). Klin Monatsbl Augenheilkd 171 5 (1977) 731-734
-
(1977)
Klin Monatsbl Augenheilkd
, vol.171
, Issue.5
, pp. 731-734
-
-
Newell, F.W.1
Diddie, K.R.2
-
23
-
-
0035168148
-
A thyroid hormone receptor that is required for the development of green cone photoreceptors
-
Ng L., Hurley J.B., Dierks B., Srinivas M., Salto C., Vennstrom B., et al. A thyroid hormone receptor that is required for the development of green cone photoreceptors. Nature Genetics 27 1 (2001) 94-98
-
(2001)
Nature Genetics
, vol.27
, Issue.1
, pp. 94-98
-
-
Ng, L.1
Hurley, J.B.2
Dierks, B.3
Srinivas, M.4
Salto, C.5
Vennstrom, B.6
-
24
-
-
33846815401
-
Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL
-
Oh E.C., Khan N., Novelli E., Khanna H., Strettoi E., and Swaroop A. Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proceedings of the National Academy of Sciences of the United States of America 104 5 (2007) 1679-1684
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.5
, pp. 1679-1684
-
-
Oh, E.C.1
Khan, N.2
Novelli, E.3
Khanna, H.4
Strettoi, E.5
Swaroop, A.6
-
25
-
-
15544371180
-
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes
-
Peng G.H., Ahmad O., Ahmad F., Liu J., and Chen S. The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. Human Molecular Genetics 14 6 (2005) 747-764
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.6
, pp. 747-764
-
-
Peng, G.H.1
Ahmad, O.2
Ahmad, F.3
Liu, J.4
Chen, S.5
-
26
-
-
20444500207
-
Identification of regulatory targets of tissue-specific transcription factors: Application to retina-specific gene regulation
-
Qian J., Esumi N., Chen Y., Wang Q., Chowers I., and Zack D.J. Identification of regulatory targets of tissue-specific transcription factors: Application to retina-specific gene regulation. Nucleic Acids Research 33 11 (2005) 3479-3491
-
(2005)
Nucleic Acids Research
, vol.33
, Issue.11
, pp. 3479-3491
-
-
Qian, J.1
Esumi, N.2
Chen, Y.3
Wang, Q.4
Chowers, I.5
Zack, D.J.6
-
27
-
-
24644470128
-
Retinoid X receptor (gamma) is necessary to establish the S-opsin gradient in cone photoreceptors of the developing mouse retina
-
Roberts M.R., Hendrickson A., McGuire C.R., and Reh T.A. Retinoid X receptor (gamma) is necessary to establish the S-opsin gradient in cone photoreceptors of the developing mouse retina. Investigative Ophthalmology & Visual Science 46 8 (2005) 2897-2904
-
(2005)
Investigative Ophthalmology & Visual Science
, vol.46
, Issue.8
, pp. 2897-2904
-
-
Roberts, M.R.1
Hendrickson, A.2
McGuire, C.R.3
Reh, T.A.4
-
28
-
-
33646583234
-
Making the gradient: Thyroid hormone regulates cone opsin expression in the developing mouse retina
-
Roberts M.R., Srinivas M., Forrest D., Morreale de Escobar G., and Reh T.A. Making the gradient: Thyroid hormone regulates cone opsin expression in the developing mouse retina. Proceedings of the National Academy of Sciences of the United States of America 103 16 (2006) 6218-6223
-
(2006)
Proceedings of the National Academy of Sciences of the United States of America
, vol.103
, Issue.16
, pp. 6218-6223
-
-
Roberts, M.R.1
Srinivas, M.2
Forrest, D.3
Morreale de Escobar, G.4
Reh, T.A.5
-
29
-
-
0031976811
-
Functional analysis of the promoters of the human red and green visual pigment genes
-
Shaaban S.A., and Deeb S.S. Functional analysis of the promoters of the human red and green visual pigment genes. Investigative Ophthalmology & Visual Science 39 6 (1998) 885-896
-
(1998)
Investigative Ophthalmology & Visual Science
, vol.39
, Issue.6
, pp. 885-896
-
-
Shaaban, S.A.1
Deeb, S.S.2
-
30
-
-
0031447030
-
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
-
Swain P.K., Chen S., Wang Q.L., Affatigato L.M., Coats C.L., Brady K.D., et al. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19 6 (1997) 1329-1336
-
(1997)
Neuron
, vol.19
, Issue.6
, pp. 1329-1336
-
-
Swain, P.K.1
Chen, S.2
Wang, Q.L.3
Affatigato, L.M.4
Coats, C.L.5
Brady, K.D.6
-
31
-
-
0032929074
-
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function
-
Swaroop A., Wang Q.L., Wu W., Cook J., Coats C., Xu S., et al. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function. Human Molecular Genetics 8 2 (1999) 299-305
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.2
, pp. 299-305
-
-
Swaroop, A.1
Wang, Q.L.2
Wu, W.3
Cook, J.4
Coats, C.5
Xu, S.6
-
32
-
-
29144473675
-
Differentiation of follicular thyroid adenoma from carcinoma by means of gene expression profiling with adapter-tagged competitive polymerase chain reaction
-
Taniguchi K., Takano T., Miyauchi A., Koizumi K., Ito Y., Takamura Y., et al. Differentiation of follicular thyroid adenoma from carcinoma by means of gene expression profiling with adapter-tagged competitive polymerase chain reaction. Oncology 69 5 (2005) 428-435
-
(2005)
Oncology
, vol.69
, Issue.5
, pp. 428-435
-
-
Taniguchi, K.1
Takano, T.2
Miyauchi, A.3
Koizumi, K.4
Ito, Y.5
Takamura, Y.6
-
33
-
-
0029848197
-
Thyroid hormone-responsive genes in developing cerebellum include a novel synaptotagmin and a hairless homolog
-
Thompson C.C. Thyroid hormone-responsive genes in developing cerebellum include a novel synaptotagmin and a hairless homolog. The Journal of Neuroscience 16 24 (1996) 7832-7840
-
(1996)
The Journal of Neuroscience
, vol.16
, Issue.24
, pp. 7832-7840
-
-
Thompson, C.C.1
-
34
-
-
0032858558
-
DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness
-
Uhlmann J., Wiemann S., and Ponstingl H. DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness. FEBS Letters 460 1 (1999) 153-160
-
(1999)
FEBS Letters
, vol.460
, Issue.1
, pp. 153-160
-
-
Uhlmann, J.1
Wiemann, S.2
Ponstingl, H.3
-
36
-
-
0026806222
-
A locus control region adjacent to the human red and green visual pigment genes
-
Wang Y., Macke J.P., Merbs S.L., Zack D.J., Klaunberg B., Bennett J., et al. A locus control region adjacent to the human red and green visual pigment genes. Neuron 9 3 (1992) 429-440
-
(1992)
Neuron
, vol.9
, Issue.3
, pp. 429-440
-
-
Wang, Y.1
Macke, J.P.2
Merbs, S.L.3
Zack, D.J.4
Klaunberg, B.5
Bennett, J.6
-
37
-
-
0028097367
-
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
-
Weber B.H., Vogt G., Pruett R.C., Stohr H., and Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genetics 8 4 (1994) 352-356
-
(1994)
Nature Genetics
, vol.8
, Issue.4
, pp. 352-356
-
-
Weber, B.H.1
Vogt, G.2
Pruett, R.C.3
Stohr, H.4
Felbor, U.5
-
38
-
-
0036847475
-
Distinct functions of photoreceptor cell-specific nuclear receptor, thyroid hormone receptor beta2 and CRX in one photoreceptor development
-
Yanagi Y., Takezawa S., and Kato S. Distinct functions of photoreceptor cell-specific nuclear receptor, thyroid hormone receptor beta2 and CRX in one photoreceptor development. Investigative Ophthalmology & Visual Science 43 11 (2002) 3489-3494
-
(2002)
Investigative Ophthalmology & Visual Science
, vol.43
, Issue.11
, pp. 3489-3494
-
-
Yanagi, Y.1
Takezawa, S.2
Kato, S.3
-
39
-
-
0034964207
-
Physiological and molecular basis of thyroid hormone action
-
Yen P.M. Physiological and molecular basis of thyroid hormone action. Physiological Reviews 81 3 (2001) 1097-1142
-
(2001)
Physiological Reviews
, vol.81
, Issue.3
, pp. 1097-1142
-
-
Yen, P.M.1
|