-
1
-
-
0037032835
-
The protein kinase complement of the human genome
-
Manning, G., Whyte, D.B., Martinez, R., Hunter, T., and Sudarsanam, S. (2002). The protein kinase complement of the human genome. Science 298, 1912-1934.
-
(2002)
Science
, vol.298
, pp. 1912-1934
-
-
Manning, G.1
Whyte, D.B.2
Martinez, R.3
Hunter, T.4
Sudarsanam, S.5
-
2
-
-
0037417767
-
MAP kinases and CDKs: Kinetic basis for catalytic activation
-
Lew, J. (2003). MAP kinases and CDKs: Kinetic basis for catalytic activation. Biochemistry 42, 849-856.
-
(2003)
Biochemistry
, vol.42
, pp. 849-856
-
-
Lew, J.1
-
3
-
-
44049099969
-
Protein kinase C beta inhibitors: A new therapeutic target for diabetic nephropathy and vascular complications
-
Budhiraja, S., and Singh, J. (2008). Protein kinase C beta inhibitors: A new therapeutic target for diabetic nephropathy and vascular complications. Fundam. Clin. Pharmacol. 22, 231-240.
-
(2008)
Fundam. Clin. Pharmacol
, vol.22
, pp. 231-240
-
-
Budhiraja, S.1
Singh, J.2
-
4
-
-
21244457181
-
BRAF mutation in thyroid cancer
-
Xing, M. (2005). BRAF mutation in thyroid cancer. Endocr. Relat. Cancer 12, 245-262.
-
(2005)
Endocr. Relat. Cancer
, vol.12
, pp. 245-262
-
-
Xing, M.1
-
5
-
-
0029040199
-
Protein tyrosine kinases in the initiation of antigen receptor signaling
-
Bolen, J.B. (1995). Protein tyrosine kinases in the initiation of antigen receptor signaling. Curr. Opin. Immunol. 7, 306-311.
-
(1995)
Curr. Opin. Immunol
, vol.7
, pp. 306-311
-
-
Bolen, J.B.1
-
6
-
-
17944373014
-
Human hypertension caused by mutations in WNK kinases
-
Wilson, F.H., Disse-Nicodeme, S., Choate, K.A., Ishikawa, K., Nelson-Williams, C., Desitter, I., Gunel, M., Milford, D.V., Lipkin, G.W., Achard, J.M., et al. (2001). Human hypertension caused by mutations in WNK kinases. Science 293, 1107-1112.
-
(2001)
Science
, vol.293
, pp. 1107-1112
-
-
Wilson, F.H.1
Disse-Nicodeme, S.2
Choate, K.A.3
Ishikawa, K.4
Nelson-Williams, C.5
Desitter, I.6
Gunel, M.7
Milford, D.V.8
Lipkin, G.W.9
Achard, J.M.10
-
7
-
-
20144375095
-
Skeletal dysplasias
-
Hurst, J.A., Firth, H.V., and Smithson, S. (2005). Skeletal dysplasias. Semin. Fetal Neonatal Med. 10, 233-241.
-
(2005)
Semin. Fetal Neonatal Med
, vol.10
, pp. 233-241
-
-
Hurst, J.A.1
Firth, H.V.2
Smithson, S.3
-
8
-
-
0030020468
-
Prenatal ultrasound findings in hydrolethalus: Continuing difficulties in diagnosis
-
Norgard, M., Yankowitz, J., Rhead, W., Kanis, A.B., and Hall, B.D. (1996). Prenatal ultrasound findings in hydrolethalus: Continuing difficulties in diagnosis. Prenat. Diagn. 16, 173-179.
-
(1996)
Prenat. Diagn
, vol.16
, pp. 173-179
-
-
Norgard, M.1
Yankowitz, J.2
Rhead, W.3
Kanis, A.B.4
Hall, B.D.5
-
9
-
-
0019120132
-
Short rib-polydactyly syndrome, Majewski type
-
Chen, H., Yang, S.S., Gonzalez, E., Fowler, M., and Al Saadi, A. (1980). Short rib-polydactyly syndrome, Majewski type. Am. J. Med. Genet. 7 215-222.
-
(1980)
Am. J. Med. Genet
, vol.7
, pp. 215-222
-
-
Chen, H.1
Yang, S.S.2
Gonzalez, E.3
Fowler, M.4
Al Saadi, A.5
-
10
-
-
0003879233
-
-
Baltimore: Johns Hopkins University Press
-
Hostetler, J.A. (1993). Amish Society (Baltimore: Johns Hopkins University Press).
-
(1993)
Amish Society
-
-
Hostetler, J.A.1
-
11
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander, E.S., and Botstein, D. (1987). Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
12
-
-
38949087294
-
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
-
Rauch, A., Thiel, C.T., Schindler, D.,Wick, U., Crow, Y.J., Ekici, A.B., van Essen, A.J., Goecke, T.O., Al-Gazali, L., Chrzanowska, K.H., et al. (2008). Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319, 816-819.
-
(2008)
Science
, vol.319
, pp. 816-819
-
-
Rauch, A.1
Thiel, C.T.2
Schindler, D.3
Wick, U.4
Crow, Y.J.5
Ekici, A.B.6
van Essen, A.J.7
Goecke, T.O.8
Al-Gazali, L.9
Chrzanowska, K.H.10
-
13
-
-
4143125609
-
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function
-
Puffenberger, E.G., Hu-Lince, D., Parod, J.M., Craig, D.W., Dobrin, S.E., Conway, A.R., Donarum, E.A., Strauss, K.A., Dunckley, T., Cardenas, J.F., et al. (2004). Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc. Natl. Acad. Sci. USA 101, 11689-11694.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 11689-11694
-
-
Puffenberger, E.G.1
Hu-Lince, D.2
Parod, J.M.3
Craig, D.W.4
Dobrin, S.E.5
Conway, A.R.6
Donarum, E.A.7
Strauss, K.A.8
Dunckley, T.9
Cardenas, J.F.10
-
15
-
-
25144496606
-
PMUT: A web-based tool for the annotation of pathological mutations on proteins
-
Ferrer-Costa, C., Gelpi, J.L., Zamakola, L., Parraga, I., de la Cruz, X., and Orozco, M. (2005). PMUT: A web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21, 3176-3178.
-
(2005)
Bioinformatics
, vol.21
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpi, J.L.2
Zamakola, L.3
Parraga, I.4
de la Cruz, X.5
Orozco, M.6
-
16
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
Ramensky, V., Bork, P., and Sunyaev, S. (2002). Human non-synonymous SNPs: Server and survey. Nucleic Acids Res. 30, 3894-3900.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
17
-
-
33645764714
-
SNPs3D: Candidate gene and SNP selection for association studies
-
Yue, P., Melamud, E., and Moult, J. (2006). SNPs3D: Candidate gene and SNP selection for association studies. BMC Bioinformatics 7, 166.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 166
-
-
Yue, P.1
Melamud, E.2
Moult, J.3
-
18
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng, P.C., and Henikoff, S. (2003). SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
19
-
-
0029090514
-
Multiple modes of ligand recognition: Crystal structures of cyclin-dependent protein kinase 2 in complex with ATP and two inhibitors, olomoucine and isopentenyladenine
-
Schulze-Gahmen, U., Brandsen, J., Jones, H.D., Morgan, D.O., Meijer, L., Vesely, J., and Kim, S.H. (1995). Multiple modes of ligand recognition: Crystal structures of cyclin-dependent protein kinase 2 in complex with ATP and two inhibitors, olomoucine and isopentenyladenine. Proteins 22, 378-391.
-
(1995)
Proteins
, vol.22
, pp. 378-391
-
-
Schulze-Gahmen, U.1
Brandsen, J.2
Jones, H.D.3
Morgan, D.O.4
Meijer, L.5
Vesely, J.6
Kim, S.H.7
-
21
-
-
50649095790
-
Macromolecular modeling with rosetta
-
Das, R., and Baker, D. (2008). Macromolecular modeling with rosetta. Annu. Rev. Biochem. 77, 363-382.
-
(2008)
Annu. Rev. Biochem
, vol.77
, pp. 363-382
-
-
Das, R.1
Baker, D.2
-
22
-
-
34249777526
-
Eris: An automated estimator of protein stability
-
Yin, S., Ding, F., and Dokholyan, N.V. (2007). Eris: An automated estimator of protein stability. Nat. Methods 4, 466-467.
-
(2007)
Nat. Methods
, vol.4
, pp. 466-467
-
-
Yin, S.1
Ding, F.2
Dokholyan, N.V.3
-
24
-
-
33645415686
-
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
-
Strauss, K.A., Puffenberger, E.G., Huentelman, M.J., Gottlieb, S., Dobrin, S.E., Parod, J.M., Stephan, D.A., and Morton, D.H. (2006). Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N. Engl. J. Med. 354, 1370-1377.
-
(2006)
N. Engl. J. Med
, vol.354
, pp. 1370-1377
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Huentelman, M.J.3
Gottlieb, S.4
Dobrin, S.E.5
Parod, J.M.6
Stephan, D.A.7
Morton, D.H.8
-
25
-
-
21744433675
-
Activation of a nuclear Cdc2-related kinase within a mitogen-activated protein kinase-like TDY motif by autophosphorylation and cyclin-dependent protein kinase-activating kinase
-
Fu, Z., Schroeder, M.J., Shabanowitz, J., Kaldis, P., Togawa, K., Rustgi, A.K., Hunt, D.F., and Sturgill, T.W. (2005). Activation of a nuclear Cdc2-related kinase within a mitogen-activated protein kinase-like TDY motif by autophosphorylation and cyclin-dependent protein kinase-activating kinase. Mol. Cell. Biol. 25, 6047-6064.
-
(2005)
Mol. Cell. Biol
, vol.25
, pp. 6047-6064
-
-
Fu, Z.1
Schroeder, M.J.2
Shabanowitz, J.3
Kaldis, P.4
Togawa, K.5
Rustgi, A.K.6
Hunt, D.F.7
Sturgill, T.W.8
-
26
-
-
0030954650
-
Rare disease genes- Lessons and challenges
-
Peltonen, L., and Uusitalo, A. (1997). Rare disease genes- Lessons and challenges. Genome Res. 7, 765-767.
-
(1997)
Genome Res
, vol.7
, pp. 765-767
-
-
Peltonen, L.1
Uusitalo, A.2
-
27
-
-
0028009094
-
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4
-
Urioste, M., Martinez-Frias, M.L., Bermejo, E., Jimenez, N., Romero, D., Nieto, C., and Villa, A. (1994). Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. Am. J. Med. Genet. 49, 94-97.
-
(1994)
Am. J. Med. Genet
, vol.49
, pp. 94-97
-
-
Urioste, M.1
Martinez-Frias, M.L.2
Bermejo, E.3
Jimenez, N.4
Romero, D.5
Nieto, C.6
Villa, A.7
-
28
-
-
0019500186
-
The hydrolethalus syndrome: Delineation of a "new", lethal malformation syndrome based on 28 patients
-
Salonen, R., Herva, R., and Norio, R. (1981). The hydrolethalus syndrome: Delineation of a "new", lethal malformation syndrome based on 28 patients. Clin. Genet. 19, 321-330.
-
(1981)
Clin. Genet
, vol.19
, pp. 321-330
-
-
Salonen, R.1
Herva, R.2
Norio, R.3
-
29
-
-
0033361898
-
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25
-
Visapaa, I., Salonen, R., Varilo, T., Paavola, P., and Peltonen, L. (1999). Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. Am. J. Hum. Genet. 65, 1086-1095.
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 1086-1095
-
-
Visapaa, I.1
Salonen, R.2
Varilo, T.3
Paavola, P.4
Peltonen, L.5
-
30
-
-
0028947437
-
Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes
-
Dincsoy, M.Y., Salih, M.A., al-Jurayyan, N., al Saadi, M., and Patel, P.J. (1995). Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes. Am. J. Med. Genet. 56, 317-321.
-
(1995)
Am. J. Med. Genet
, vol.56
, pp. 317-321
-
-
Dincsoy, M.Y.1
Salih, M.A.2
al-Jurayyan, N.3
al Saadi, M.4
Patel, P.J.5
-
31
-
-
0029649347
-
Oral-facial-skeletal syndromes
-
Neri, G., Gurrieri, F., and Genuardi, M. (1995). Oral-facial-skeletal syndromes. Am. J. Med. Genet. 59, 365-368.
-
(1995)
Am. J. Med. Genet
, vol.59
, pp. 365-368
-
-
Neri, G.1
Gurrieri, F.2
Genuardi, M.3
-
32
-
-
0026764812
-
Overlap between Majewski and hydrolethalus syndromes: A report of two cases
-
Sharma, A.K., Phadke, S., Chandra, K., Upreti, M., Khan, E.M., Naveed, M., and Agarwal, S.S. (1992). Overlap between Majewski and hydrolethalus syndromes: A report of two cases. Am. J. Med. Genet. 43, 949-953.
-
(1992)
Am. J. Med. Genet
, vol.43
, pp. 949-953
-
-
Sharma, A.K.1
Phadke, S.2
Chandra, K.3
Upreti, M.4
Khan, E.M.5
Naveed, M.6
Agarwal, S.S.7
-
33
-
-
49849104608
-
Orofaciodigital syndrome Type IV (Mohr-Majewski): Early prenatal diagnosis in siblings
-
Rosing, B., Kempe, A., Berg, C., Kahl, P., Knopfle, G., Gembruch, U., and Geipel, A. (2008). Orofaciodigital syndrome Type IV (Mohr-Majewski): Early prenatal diagnosis in siblings. Ultrasound Obstet. Gynecol. 31 457-460.
-
(2008)
Ultrasound Obstet. Gynecol
, vol.31
, pp. 457-460
-
-
Rosing, B.1
Kempe, A.2
Berg, C.3
Kahl, P.4
Knopfle, G.5
Gembruch, U.6
Geipel, A.7
-
34
-
-
0034011052
-
Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases
-
Togawa, K., Yan, Y.X., Inomoto, T., Slaugenhaupt, S., and Rustgi, A.K. (2000). Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases. J. Cell. Physiol. 183, 129-139.
-
(2000)
J. Cell. Physiol
, vol.183
, pp. 129-139
-
-
Togawa, K.1
Yan, Y.X.2
Inomoto, T.3
Slaugenhaupt, S.4
Rustgi, A.K.5
-
35
-
-
0036297786
-
The identification and subcellular localization of human MRK
-
Yang, T., Jiang, Y., and Chen, J. (2002). The identification and subcellular localization of human MRK. Biomol. Eng. 19, 1-4.
-
(2002)
Biomol. Eng
, vol.19
, pp. 1-4
-
-
Yang, T.1
Jiang, Y.2
Chen, J.3
-
36
-
-
6244252787
-
Molecular cloning of a novel serine/threonine kinase, MRK, possibly involved in cardiac development
-
Abe, S., Yagi, T., Ishiyama, S., Hiroe, M., Marumo, F., and Ikawa, Y. (1995). Molecular cloning of a novel serine/threonine kinase, MRK, possibly involved in cardiac development. Oncogene 11, 2187-2195.
-
(1995)
Oncogene
, vol.11
, pp. 2187-2195
-
-
Abe, S.1
Yagi, T.2
Ishiyama, S.3
Hiroe, M.4
Marumo, F.5
Ikawa, Y.6
-
37
-
-
33751017086
-
Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase
-
Fu, Z., Larson, K.A., Chitta, R.K., Parker, S.A., Turk, B.E., Lawrence, M.W., Kaldis, P., Galaktionov, K., Cohn, S.M., Shabanowitz, J., et al. (2006). Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase. Mol. Cell. Biol. 26, 8639-8654.
-
(2006)
Mol. Cell. Biol
, vol.26
, pp. 8639-8654
-
-
Fu, Z.1
Larson, K.A.2
Chitta, R.K.3
Parker, S.A.4
Turk, B.E.5
Lawrence, M.W.6
Kaldis, P.7
Galaktionov, K.8
Cohn, S.M.9
Shabanowitz, J.10
-
38
-
-
33846467191
-
Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array
-
Gardina, P.J., Clark, T.A., Shimada, B., Staples, M.K., Yang, Q., Veitch, J., Schweitzer, A., Awad, T., Sugnet, C., Dee, S., et al. (2006). Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array. BMC Genomics 7, 325.
-
(2006)
BMC Genomics
, vol.7
, pp. 325
-
-
Gardina, P.J.1
Clark, T.A.2
Shimada, B.3
Staples, M.K.4
Yang, Q.5
Veitch, J.6
Schweitzer, A.7
Awad, T.8
Sugnet, C.9
Dee, S.10
-
39
-
-
27944446355
-
The reaper-binding protein scythe modulates apoptosis and proliferation during mammalian development
-
Desmots, F., Russell, H.R., Lee, Y., Boyd, K., and McKinnon, P.J. (2005). The reaper-binding protein scythe modulates apoptosis and proliferation during mammalian development. Mol. Cell. Biol. 25, 10329-10337.
-
(2005)
Mol. Cell. Biol
, vol.25
, pp. 10329-10337
-
-
Desmots, F.1
Russell, H.R.2
Lee, Y.3
Boyd, K.4
McKinnon, P.J.5
-
40
-
-
2642543386
-
A new growth chart for preterm babies: Babson and Benda's chart updated with recent data and a new format
-
Fenton, T.R. (2003). A new growth chart for preterm babies: Babson and Benda's chart updated with recent data and a new format. BMC Pediatr. 3, 13.
-
(2003)
BMC Pediatr
, vol.3
, pp. 13
-
-
Fenton, T.R.1
|