-
1
-
-
0013317260
-
Collagen: gene structure
-
Royce P.M., and Steinmann B. (Eds), Wiley-Liss, New York
-
Chu M.L., and Prockop D.J. Collagen: gene structure. In: Royce P.M., and Steinmann B. (Eds). Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects (2002), Wiley-Liss, New York 223-248
-
(2002)
Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects
, pp. 223-248
-
-
Chu, M.L.1
Prockop, D.J.2
-
2
-
-
0002846317
-
The collagen family: structure, assembly, and organization in the extracellular matrix
-
Royce P.M., and Steinmann B. (Eds), Wiley-Liss, New York
-
Kielty C.M., and Grant M.E. The collagen family: structure, assembly, and organization in the extracellular matrix. In: Royce P.M., and Steinmann B. (Eds). Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects (2002), Wiley-Liss, New York 159-221
-
(2002)
Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects
, pp. 159-221
-
-
Kielty, C.M.1
Grant, M.E.2
-
3
-
-
33847227672
-
Consortium for Osteogenesis Imperfecta Mutations in the Helical Domain of Type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
-
Marini J.C., Forlino A., Cabral W.A., Barnes A.M., San Antonio J.D., Milgrom S., Hyland J.C., Korkko J., Prockop D.J., De Paepe A., Coucke P., Symoens S., Glorieux F.H., Roughley P.J., Lund A.M., Kuurila-Svahn K., Hartikka H., Cohn D.H., Krakow D., Mottes M., Schwarze U., Chen D., Yang K., Kuslich C., Troendle J., Dalgleish R., and Byers P.H. Consortium for Osteogenesis Imperfecta Mutations in the Helical Domain of Type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum. Mutat. 28 (2007) 209-221
-
(2007)
Hum. Mutat.
, vol.28
, pp. 209-221
-
-
Marini, J.C.1
Forlino, A.2
Cabral, W.A.3
Barnes, A.M.4
San Antonio, J.D.5
Milgrom, S.6
Hyland, J.C.7
Korkko, J.8
Prockop, D.J.9
De Paepe, A.10
Coucke, P.11
Symoens, S.12
Glorieux, F.H.13
Roughley, P.J.14
Lund, A.M.15
Kuurila-Svahn, K.16
Hartikka, H.17
Cohn, D.H.18
Krakow, D.19
Mottes, M.20
Schwarze, U.21
Chen, D.22
Yang, K.23
Kuslich, C.24
Troendle, J.25
Dalgleish, R.26
Byers, P.H.27
more..
-
4
-
-
0034054910
-
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
-
Pepin M., Schwarze U., Superti-Furga A., and Byers P.H. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N. Engl. J. Med. 342 (2000) 673-680
-
(2000)
N. Engl. J. Med.
, vol.342
, pp. 673-680
-
-
Pepin, M.1
Schwarze, U.2
Superti-Furga, A.3
Byers, P.H.4
-
5
-
-
3242891068
-
VISTA: computational tools for comparative genomics
-
Frazer K.A., Pachter L., Poliakov A., Rubin E.M., and Dubchak I. VISTA: computational tools for comparative genomics. Nucleic Acids Res. 32 (2004) W273-W279
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Frazer, K.A.1
Pachter, L.2
Poliakov, A.3
Rubin, E.M.4
Dubchak, I.5
-
6
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Krawetz S., and Misener S. (Eds), Humana Press, Totowa, NJ
-
Rozen S., and Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S., and Misener S. (Eds). Bioinformatics Methods and Protocols: Methods in Molecular Biology (2000), Humana Press, Totowa, NJ 365-386
-
(2000)
Bioinformatics Methods and Protocols: Methods in Molecular Biology
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
7
-
-
0036079158
-
The Human Genome Browser at UCSC
-
Kent W.J., Sugnet C.W., Furey T.S., Roskin K.M., Pringle T.H., Zahler A.M., and Haussler D. The Human Genome Browser at UCSC. Genome Res. 12 (2002) 996-1006
-
(2002)
Genome Res.
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
9
-
-
0024313579
-
Statistical method for testing the neutral mutation hypothesis by DNA polymorphism
-
Tajima F. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123 (1989) 585-595
-
(1989)
Genetics
, vol.123
, pp. 585-595
-
-
Tajima, F.1
-
10
-
-
33751342650
-
Statistical tests for detecting positive selection by utilizing high-frequency variants
-
Zeng K., Fu Y.X., Shi S., and Wu C.I. Statistical tests for detecting positive selection by utilizing high-frequency variants. Genetics 174 (2006) 1431-1439
-
(2006)
Genetics
, vol.174
, pp. 1431-1439
-
-
Zeng, K.1
Fu, Y.X.2
Shi, S.3
Wu, C.I.4
-
11
-
-
0021038163
-
Estimation of the coancestry coefficient: basis for a short-term genetic distance
-
Reynolds J., Weir B.S., and Cockerham C.C. Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics 105 (1983) 767-779
-
(1983)
Genetics
, vol.105
, pp. 767-779
-
-
Reynolds, J.1
Weir, B.S.2
Cockerham, C.C.3
-
12
-
-
37049246982
-
Construction of phylogenetic trees
-
Fitch W.M., and Margoliash E. Construction of phylogenetic trees. Science 155 (1967) 279-284
-
(1967)
Science
, vol.155
, pp. 279-284
-
-
Fitch, W.M.1
Margoliash, E.2
-
13
-
-
33748517636
-
Sequencing errors or SNPs at splice-acceptor guanines in dbSNP?
-
Platzer M., Hiller M., Szafranski K., Jahn N., Hampe J., Schreiber S., Backofen R., and Huse K. Sequencing errors or SNPs at splice-acceptor guanines in dbSNP?. Nat. Biotechnol. 24 (2006) 1068-1070
-
(2006)
Nat. Biotechnol.
, vol.24
, pp. 1068-1070
-
-
Platzer, M.1
Hiller, M.2
Szafranski, K.3
Jahn, N.4
Hampe, J.5
Schreiber, S.6
Backofen, R.7
Huse, K.8
-
14
-
-
0034924997
-
Positive and negative selection on the human genome
-
Fay J.C., Wyckoff G.J., and Wu C.I. Positive and negative selection on the human genome. Genetics 158 (2001) 1227-1234
-
(2001)
Genetics
, vol.158
, pp. 1227-1234
-
-
Fay, J.C.1
Wyckoff, G.J.2
Wu, C.I.3
-
15
-
-
0023046874
-
Codon usage in yeast: cluster analysis clearly differentiates highly and lowly expressed genes
-
Sharp P.M., Tuohy T.M., and Mosurski K.R. Codon usage in yeast: cluster analysis clearly differentiates highly and lowly expressed genes. Nucleic Acids Res. 14 (1986) 5125-5143
-
(1986)
Nucleic Acids Res.
, vol.14
, pp. 5125-5143
-
-
Sharp, P.M.1
Tuohy, T.M.2
Mosurski, K.R.3
-
16
-
-
0017481191
-
Is the most frequent allele the oldest?
-
Watterson G.A., and Guess H.A. Is the most frequent allele the oldest?. Theor. Popul. Biol. 11 (1977) 141-160
-
(1977)
Theor. Popul. Biol.
, vol.11
, pp. 141-160
-
-
Watterson, G.A.1
Guess, H.A.2
-
17
-
-
0022196880
-
Rare alleles as indicators of gene flow
-
Slatkin M. Rare alleles as indicators of gene flow. Evolution 39 (1985) 53-65
-
(1985)
Evolution
, vol.39
, pp. 53-65
-
-
Slatkin, M.1
-
18
-
-
0038612980
-
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints
-
Leabman M.K., Huang C.C., DeYoung J., Carlson E.J., Taylor T.R., de la Cruz M., Johns S.J., Stryke D., Kawamoto M., Urban T.J., Kroetz D.L., Ferrin T.E., Clark A.G., Risch N., Herskowitz I., and Giacomini K.M. Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc. Natl. Acad. Sci. U. S. A. 100 (2003) 5896-5901
-
(2003)
Proc. Natl. Acad. Sci. U. S. A.
, vol.100
, pp. 5896-5901
-
-
Leabman, M.K.1
Huang, C.C.2
DeYoung, J.3
Carlson, E.J.4
Taylor, T.R.5
de la Cruz, M.6
Johns, S.J.7
Stryke, D.8
Kawamoto, M.9
Urban, T.J.10
Kroetz, D.L.11
Ferrin, T.E.12
Clark, A.G.13
Risch, N.14
Herskowitz, I.15
Giacomini, K.M.16
-
19
-
-
0035919656
-
Haplotype variation and linkage disequilibrium in 313 human genes
-
Stephens J.C., Schneider J.A., Tanguay D.A., Choi J., Acharya T., Stanley S.E., Jiang R., Messer C.J., Chew A., Han J.H., Duan J., Carr J.L., Lee M.S., Koshy B., Kumar A.M., Zhang G., Newell W.R., Windemuth A., Xu C., Kalbfleisch T.S., Shaner S.L., Arnold K., Schulz V., Drysdale C.M., Nandabalan K., Judson R.S., Ruano G., and Vovis G.F. Haplotype variation and linkage disequilibrium in 313 human genes. Science 293 (2001) 489-493
-
(2001)
Science
, vol.293
, pp. 489-493
-
-
Stephens, J.C.1
Schneider, J.A.2
Tanguay, D.A.3
Choi, J.4
Acharya, T.5
Stanley, S.E.6
Jiang, R.7
Messer, C.J.8
Chew, A.9
Han, J.H.10
Duan, J.11
Carr, J.L.12
Lee, M.S.13
Koshy, B.14
Kumar, A.M.15
Zhang, G.16
Newell, W.R.17
Windemuth, A.18
Xu, C.19
Kalbfleisch, T.S.20
Shaner, S.L.21
Arnold, K.22
Schulz, V.23
Drysdale, C.M.24
Nandabalan, K.25
Judson, R.S.26
Ruano, G.27
Vovis, G.F.28
more..
-
20
-
-
0003675970
-
-
Princeton Univ. Press, Princeton, NJ
-
Cavalli-Sforza L.L., Menozzi P., and Piazza A. The History and Geography of Human Genes (1994), Princeton Univ. Press, Princeton, NJ
-
(1994)
The History and Geography of Human Genes
-
-
Cavalli-Sforza, L.L.1
Menozzi, P.2
Piazza, A.3
-
21
-
-
0037040286
-
Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, Type I collagen
-
Di Lullo G.A., Sweeney S.M., Korkko J., Ala-Kokko L., and San Antonio J.D. Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, Type I collagen. J. Biol. Chem. 277 (2002) 4223-4231
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 4223-4231
-
-
Di Lullo, G.A.1
Sweeney, S.M.2
Korkko, J.3
Ala-Kokko, L.4
San Antonio, J.D.5
-
22
-
-
0037320652
-
Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor
-
Duan J., Wainwright M.S., Comeron J.M., Saitou N., Sanders A.R., Gelernter J., and Gejman P.V. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum. Mol. Genet. 12 (2003) 205-216
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 205-216
-
-
Duan, J.1
Wainwright, M.S.2
Comeron, J.M.3
Saitou, N.4
Sanders, A.R.5
Gelernter, J.6
Gejman, P.V.7
-
23
-
-
33846504706
-
A "silent" polymorphism in the MDR1 gene changes substrate specificity
-
Kimchi-Sarfaty C., Oh J.M., Kim I.W., Sauna Z.E., Calcagno A.M., Ambudkar S.V., and Gottesman M.M. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 315 (2007) 525-528
-
(2007)
Science
, vol.315
, pp. 525-528
-
-
Kimchi-Sarfaty, C.1
Oh, J.M.2
Kim, I.W.3
Sauna, Z.E.4
Calcagno, A.M.5
Ambudkar, S.V.6
Gottesman, M.M.7
-
24
-
-
0023741145
-
Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human Type I procollagen
-
Tromp G., Kuivaniemi H., Stacey A., Shikata H., Baldwin C.T., Jaenisch R., and Prockop D.J. Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human Type I procollagen. Biochem. J. 253 (1988) 919-922
-
(1988)
Biochem. J.
, vol.253
, pp. 919-922
-
-
Tromp, G.1
Kuivaniemi, H.2
Stacey, A.3
Shikata, H.4
Baldwin, C.T.5
Jaenisch, R.6
Prockop, D.J.7
-
25
-
-
33748271469
-
An initial map of insertion and deletion (INDEL) variation in the human genome
-
Mills R.E., Luttig C.T., Larkins C.E., Beauchamp A., Tsui C., Pittard W.S., and Devine S.E. An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res. 16 (2006) 1182-1190
-
(2006)
Genome Res.
, vol.16
, pp. 1182-1190
-
-
Mills, R.E.1
Luttig, C.T.2
Larkins, C.E.3
Beauchamp, A.4
Tsui, C.5
Pittard, W.S.6
Devine, S.E.7
-
26
-
-
33745769743
-
Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region
-
Wang Z., Sew P.H., Ambrose H., Ryan S., Chong S.S., Lee E.J., and Lee C.G. Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region. BMC Genomics 7 (2006) 111
-
(2006)
BMC Genomics
, vol.7
, pp. 111
-
-
Wang, Z.1
Sew, P.H.2
Ambrose, H.3
Ryan, S.4
Chong, S.S.5
Lee, E.J.6
Lee, C.G.7
-
27
-
-
33845866114
-
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
-
Barnes A.M., Chang W., Morello R., Cabral W.A., Weis M., Eyre D.R., Leikin S., Makareeva E., Kuznetsova N., Uveges T.E., Ashok A., Flor A.W., Mulvihill J.J., Wilson P.L., Sundaram U.T., Lee B., and Marini J.C. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N. Engl. J. Med. 355 (2006) 2757-2764
-
(2006)
N. Engl. J. Med.
, vol.355
, pp. 2757-2764
-
-
Barnes, A.M.1
Chang, W.2
Morello, R.3
Cabral, W.A.4
Weis, M.5
Eyre, D.R.6
Leikin, S.7
Makareeva, E.8
Kuznetsova, N.9
Uveges, T.E.10
Ashok, A.11
Flor, A.W.12
Mulvihill, J.J.13
Wilson, P.L.14
Sundaram, U.T.15
Lee, B.16
Marini, J.C.17
-
28
-
-
33750207868
-
CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta
-
Morello R., Bertin T.K., Chen Y., Hicks J., Tonachini L., Monticone M., Castagnola P., Rauch F., Glorieux F.H., Vranka J., Bachinger H.P., Pace J.M., Schwarze U., Byers P.H., Weis M., Fernandes R.J., Eyre D.R., Yao Z., Boyce B.F., and Lee B. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127 (2006) 291-304
-
(2006)
Cell
, vol.127
, pp. 291-304
-
-
Morello, R.1
Bertin, T.K.2
Chen, Y.3
Hicks, J.4
Tonachini, L.5
Monticone, M.6
Castagnola, P.7
Rauch, F.8
Glorieux, F.H.9
Vranka, J.10
Bachinger, H.P.11
Pace, J.M.12
Schwarze, U.13
Byers, P.H.14
Weis, M.15
Fernandes, R.J.16
Eyre, D.R.17
Yao, Z.18
Boyce, B.F.19
Lee, B.20
more..
-
29
-
-
33847321022
-
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
-
Cabral W.A., Chang W., Barnes A.M., Weis M., Scott M.A., Leikin S., Makareeva E., Kuznetsova N.V., Rosenbaum K.N., Tifft C.J., Bulas D.I., Kozma C., Smith P.A., Eyre D.R., and Marini J.C. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat. Genet. 39 (2007) 359-365
-
(2007)
Nat. Genet.
, vol.39
, pp. 359-365
-
-
Cabral, W.A.1
Chang, W.2
Barnes, A.M.3
Weis, M.4
Scott, M.A.5
Leikin, S.6
Makareeva, E.7
Kuznetsova, N.V.8
Rosenbaum, K.N.9
Tifft, C.J.10
Bulas, D.I.11
Kozma, C.12
Smith, P.A.13
Eyre, D.R.14
Marini, J.C.15
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