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Results: 1-25 | 26-35
Results: 1-25/35
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
Authors: Scott, HS Kudoh, J Wattenhofer, M Shibuya, K Berry, A Chrast, R Guipponi, M Wang, J Kawasaki, K Asakawa, S Minoshima, S Younus, F Mehdi, SQ Radhakrishna, U Papasavvas, MP Gehrig, C Rossier, C Korostishevsky, M Gal, A Shimizu, N Bonne-Tamir, B Antonarakis, SE
Citation: Hs. Scott et al., Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness, NAT GENET, 27(1), 2001, pp. 59-63
APECED mutations in the autoimmune regulator (AIRE) gene
Authors: Heino, M Peterson, P Kudoh, J Shimizu, N Antonarakis, SE Scott, HS Krohn, K
Citation: M. Heino et al., APECED mutations in the autoimmune regulator (AIRE) gene, HUM MUTAT, 18(3), 2001, pp. 205-211
Molecular mechanisms of human single-minded 2 (SIM2) gene expression: identification of a promoter site in the SIM2 genomic sequence
Authors: Yamaki, A Tochigi, J Kudoh, J Minoshima, S Shimizu, N Shimizu, Y
Citation: A. Yamaki et al., Molecular mechanisms of human single-minded 2 (SIM2) gene expression: identification of a promoter site in the SIM2 genomic sequence, GENE, 270(1-2), 2001, pp. 265-275
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency
Authors: Yang, X Aoki, Y Li, X Sakamoto, O Hiratsuka, M Kure, S Taheri, S Christensen, E Inui, K Kubota, M Ohira, M Ohki, M Kudoh, J Kawasaki, K Shibuya, K Shintani, A Asakawa, S Minoshima, S Shimizu, N Narisawa, K Matsubara, Y Suzuki, Y
Citation: X. Yang et al., Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency, HUM GENET, 109(5), 2001, pp. 526-534
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains
Authors: Wattenhofer, M Shibuya, K Kudoh, J Lyle, R Michaud, J Rossier, C Kawasaki, K Asakawa, S Minoshima, S Berry, A Bonne-Tamir, B Shimizu, N Antonarakis, SE Scott, HS
Citation: M. Wattenhofer et al., Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains, HUM GENET, 108(2), 2001, pp. 140-147
A physical map of the human genome
Authors: McPherson, JD Marra, M Hillier, L Waterston, RH Chinwalla, A Wallis, J Sekhon, M Wylie, K Mardis, ER Wilson, RK Fulton, R Kucaba, TA Wagner-McPherson, C Barbazuk, WB Gregory, SG Humphray, SJ French, L Evans, RS Bethel, G Whittaker, A Holden, JL McCann, OT Dunham, A Soderlund, C Scott, CE Bentley, DR Schuler, G Chen, HC Jang, WH Green, ED Idol, JR Maduro, VVB Montgomery, KT Lee, E Miller, A Emerling, S Kucherlapati, R Gibbs, R Scherer, S Gorrell, JH Sodergren, E Clerc-Blankenburg, K Tabor, P Naylor, S Garcia, D de Jong, PJ Catanese, JJ Nowak, N Osoegawa, K Qin, SZ Rowen, L Madan, A Dors, M Hood, L Trask, B Friedman, C Massa, H Cheung, VG Kirsch, IR Reid, T Yonescu, R Weissenbach, J Bruls, T Heilig, R Branscomb, E Olsen, A Doggett, N Cheng, JF Hawkins, T Myers, RM Shang, J Ramirez, L Schmutz, J Velasquez, O Dixon, K Stone, NE Cox, DR Haussler, D Kent, WJ Furey, T Rogic, S Kennedy, S Jones, S Rosenthal, A Wen, GP Schilhabel, M Gloeckner, G Nyakatura, G Siebert, R Schlegelberger, B Korenburg, J Chen, XN Fujiyama, A Hattori, M Toyoda, A Yada, T Park, HS Sakaki, Y Shimizu, N Asakawa, S Kawasaki, K Sasaki, T Shintani, A Shimizu, A Shibuya, K Kudoh, J Minoshima, S Ramser, J Seranski, P Hoff, C Poustka, A Reinhardt, R Lehrach, H
Citation: Jd. Mcpherson et al., A physical map of the human genome, NATURE, 409(6822), 2001, pp. 934-941
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
Authors: Ben-Yosef, T Wattenhofer, M Riazuddin, S Ahmed, ZM Scot, HS Kudoh, J Shibuya, K Antonarakis, SE Bonne-Tamir, B Radhakrishna, U Naz, S Ahmed, Z Riazuddin, S Pandya, A Nance, WE Wilcox, ER Friedman, TB Morell, RJ
Citation: T. Ben-yosef et al., Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness, J MED GENET, 38(6), 2001, pp. 396-400
Characterization of the human ABCG1 gene - Liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein
Authors: Kennedy, MA Venkateswaran, A Tarr, PT Xenarios, I Kudoh, J Shimizu, N Edwards, PA
Citation: Ma. Kennedy et al., Characterization of the human ABCG1 gene - Liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein, J BIOL CHEM, 276(42), 2001, pp. 39438-39447
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency
Authors: Bartoloni, T Wattenhofer, M Kudoh, J Berry, A Shibuya, K Kawasaki, K Wang, J Asakawa, S Talior, I Bonne-Tamir, B Rossier, C Michaud, J McCabe, ERB Minoshima, S Shimizu, N Scott, HS Antonarakis, SE
Citation: T. Bartoloni et al., Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency, GENOMICS, 70(2), 2000, pp. 190-200
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region
Authors: Berry, A Scott, HS Kudoh, J Talior, I Korostishevsky, M Wattenhofer, M Guipponi, M Barras, C Rossier, C Shibuya, K Wang, J Kawasaki, K Asakawa, S Minoshima, S Shimizu, N Antonarakis, S Bonne-Tamir, B
Citation: A. Berry et al., Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region, GENOMICS, 68(1), 2000, pp. 22-29
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning
Authors: Guipponi, M Brunschwig, K Chamoun, Z Scott, HS Shibuya, K Kudoh, J Delezoide, AL El Samadi, S Chettouh, Z Rossier, C Shimizu, N Mueller, F Delabar, JM Antonarakis, SE
Citation: M. Guipponi et al., C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning, GENOMICS, 68(1), 2000, pp. 30-40
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein
Authors: Michaud, J Kudoh, J Berry, A Bonne-Tamir, B Lalioti, MD Rossier, C Shibuya, K Kawasaki, K Asakawa, S Minoshima, S Shimizu, N Antonarakis, SE Scott, HS
Citation: J. Michaud et al., Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein, GENOMICS, 68(1), 2000, pp. 71-79
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family
Authors: Aapola, U Shibuya, K Scott, HS Ollila, J Vihinen, M Heino, M Shintani, A Kawasaki, K Minoshima, S Krohn, K Antonarakis, SE Shimizu, N Kudoh, J Peterson, P
Citation: U. Aapola et al., Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family, GENOMICS, 65(3), 2000, pp. 293-298
Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21
Authors: Slavov, D Hattori, M Sakaki, Y Rosenthal, A Shimizu, N Minoshima, S Kudoh, J Yaspo, ML Ramser, J Reinhardt, R Reimer, C Clancy, K Rynditch, A Gardiner, K
Citation: D. Slavov et al., Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21, GENE, 247(1-2), 2000, pp. 215-232
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency
Authors: Sakamoto, O Suzuki, Y Li, X Aoki, Y Hiratsuka, M Holme, E Kudoh, J Shimizu, N Narisawa, K
Citation: O. Sakamoto et al., Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency, EUR J PED, 159(1-2), 2000, pp. 18-22
The myocilin (MYOC) gene expression in the human trabecular meshwork
Authors: Takahashi, H Noda, S Mashima, Y Kubota, R Ohtake, Y Tanino, T Kudoh, J Minoshima, S Oguchi, Y Shimizu, N
Citation: H. Takahashi et al., The myocilin (MYOC) gene expression in the human trabecular meshwork, CURR EYE R, 20(2), 2000, pp. 81-84
Expression of APG-2 protein, a member of the heat shock protein 110 family, in developing rat brain
Authors: Okui, M Ito, F Ogita, K Kuramoto, N Kudoh, J Shimizu, N Ide, T
Citation: M. Okui et al., Expression of APG-2 protein, a member of the heat shock protein 110 family, in developing rat brain, NEUROCHEM I, 36(1), 2000, pp. 35-43
The DNA sequence of human chromosome 21 (vol 405, pg 311, 2000)
Authors: Hattori, M Fujiyama, A Taylor, TD Watanabe, H Yada, T Park, HS Toyoda, A Ishii, K Totoki, Y Choi, DK Groner, Y Soeda, E Ohki, M Takagi, T Sakaki, Y Taudien, S Blechschmidt, K Polley, A Menzel, U Delabar, J Kumpf, K Lehmann, R Patterson, D Reichwald, K Rump, A Schillhabel, M Schudy, A Zimmermann, W Rosenthal, A Kudoh, J Schibuya, K Kawasaki, K Asakawa, S Shintani, A Sasaki, T Nagamine, K Mitsuyama, S Antonarakis, SE Minoshima, S Shimizu, N Nordsiek, G Hornischer, K Brant, P Scharfe, M Schon, O Desario, A Reichelt, J Kauer, G Blocker, H Ramser, J Beck, A Klages, S Hennig, S Riesselmann, L Dagand, E Haaf, T Wehrmeyer, S Borzym, K Gardiner, K Nizetic, D Francis, F Lehrach, H Reinhardt, R Yaspo, ML
Citation: M. Hattori et al., The DNA sequence of human chromosome 21 (vol 405, pg 311, 2000), NATURE, 407(6800), 2000, pp. 110-110
The DNA sequence of human chromosome 21
Authors: Hattori, M Fujiyama, A Taylor, TD Watanabe, H Yada, T Park, HS Toyoda, A Ishii, K Totoki, Y Choi, DK Soeda, E Ohki, M Takagi, T Sakaki, Y Taudien, S Blechschmidt, K Polley, A Menzel, U Delabar, J Kumpf, K Lehmann, R Patterson, D Reichwald, K Rump, A Schillhabel, M Schudy, A Zimmermann, W Rosenthal, A Kudoh, J Shibuya, K Kawasaki, K Asakawa, S Shintani, A Sasaki, T Nagamine, K Mitsuyama, S Antonarakis, SE Minoshima, S Shimizu, N Nordsiek, G Hornischer, K Brandt, P Scharfe, M Schon, O Desario, A Reichelt, J Kauer, G Blocker, H Ramser, J Beck, A Klages, S Hennig, S Riesselmann, L Dagand, E Haaf, T Wehrmeyer, S Borzym, K Gardiner, K Nizetic, D Francis, F Lehrach, H Reinhardt, R Yaspo, ML
Citation: M. Hattori et al., The DNA sequence of human chromosome 21, NATURE, 405(6784), 2000, pp. 311-319
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein
Authors: Pitkanen, J Doucas, V Sternsdorf, T Nakajima, T Aratani, S Jensen, K Will, H Vahamurto, P Ollila, J Vihinen, M Scott, HS Antonarakis, SE Kudoh, J Shimizu, N Krohn, K Peterson, P
Citation: J. Pitkanen et al., The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein, J BIOL CHEM, 275(22), 2000, pp. 16802-16809
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse
Authors: Heino, M Peterson, P Sillanpaa, N Guerin, S Wu, L Anderson, G Scott, HS Antonarakis, SE Kudoh, J Shimizu, N Jenkinson, EJ Naquet, P Krohn, KJE
Citation: M. Heino et al., RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse, EUR J IMMUN, 30(7), 2000, pp. 1884-1893
Myocilin expression in the astrocytes of the optic nerve head
Authors: Noda, S Mashima, Y Obazawa, M Kubota, R Oguchi, Y Kudoh, J Minoshima, S Shimizu, N
Citation: S. Noda et al., Myocilin expression in the astrocytes of the optic nerve head, BIOC BIOP R, 276(3), 2000, pp. 1129-1135
Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome criticalregion on human chromosome 21q22.2
Authors: Shibuya, K Kudoh, J Minoshima, S Kawasaki, K Asakawa, S Shimizu, N
Citation: K. Shibuya et al., Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome criticalregion on human chromosome 21q22.2, BIOC BIOP R, 271(3), 2000, pp. 693-698
Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of Leber hereditary optic neuropathy who showed marked differences in clinical severity
Authors: Mashima, Y Saga, M Hiida, Y Imamura, Y Kudoh, J Shimizu, N
Citation: Y. Mashima et al., Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of Leber hereditary optic neuropathy who showed marked differences in clinical severity, AM J OPHTH, 130(3), 2000, pp. 357-359
Mutation analyses of North American APS-1 patients
Authors: Heino, M Scott, HS Chen, QY Peterson, P Maenpaa, U Papasavvas, MP Mittaz, L Barras, C Rossier, C Chrousos, GP Stratakis, CA Nagamine, K Kudoh, J Shimizu, N Maclaren, N Antonarakis, SE Krohn, K
Citation: M. Heino et al., Mutation analyses of North American APS-1 patients, HUM MUTAT, 13(1), 1999, pp. 69-74
Risultati: 1-25 | 26-35