-
1
-
-
0036280235
-
Bcr–Abl variants: biological and clinical aspects
-
COI: 1:CAS:528:DC%2BD38XksVShtL8%3D, PID: 12191565
-
Advani AS, Pendergast AM (2002) Bcr–Abl variants: biological and clinical aspects. Leuk Res 26:713–720.
-
(2002)
Leuk Res
, vol.26
, pp. 713-720
-
-
Advani, A.S.1
Pendergast, A.M.2
-
2
-
-
33751073244
-
Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia
-
COI: 1:CAS:528:DC%2BD28Xht1agtL7P, PID: 16943681
-
Aghamohammadi A, Fiorini M, Moin M, Parvaneh N, Teimourian S, Yeganeh M, Goffi F, Kanegane H, Amirzargar AA, Pourpak Z, Rezaei N, Salavati A, Pouladi N, Abdollahzade S, Notarangelo LD, Miyawaki T, Plebani A (2006) Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. Int Arch Allergy Immunol 141:408–414. doi:10.1159/000095469.
-
(2006)
Int Arch Allergy Immunol
, vol.141
, pp. 408-414
-
-
Aghamohammadi, A.1
Fiorini, M.2
Moin, M.3
Parvaneh, N.4
Teimourian, S.5
Yeganeh, M.6
Goffi, F.7
Kanegane, H.8
Amirzargar, A.A.9
Pourpak, Z.10
Rezaei, N.11
Salavati, A.12
Pouladi, N.13
Abdollahzade, S.14
Notarangelo, L.D.15
Miyawaki, T.16
Plebani, A.17
-
3
-
-
84858205858
-
Classification of mismatch repair gene missense variants with PON-MMR
-
COI: 1:CAS:528:DC%2BC38Xjs1ajsbw%3D, PID: 22290698
-
Ali H, Olatubosun A, Vihinen M (2012) Classification of mismatch repair gene missense variants with PON-MMR. Hum Mutat 33:642–650. doi:10.1002/humu.22038.
-
(2012)
Hum Mutat
, vol.33
, pp. 642-650
-
-
Ali, H.1
Olatubosun, A.2
Vihinen, M.3
-
4
-
-
84901984641
-
Performance of protein disorder prediction programs on amino acid substitutions
-
COI: 1:CAS:528:DC%2BC2cXpslKgsbk%3D, PID: 24753228
-
Ali H, Urolagin S, Gurarslan O, Vihinen M (2014) Performance of protein disorder prediction programs on amino acid substitutions. Hum Mutat 35:794–804. doi:10.1002/humu.22564.
-
(2014)
Hum Mutat
, vol.35
, pp. 794-804
-
-
Ali, H.1
Urolagin, S.2
Gurarslan, O.3
Vihinen, M.4
-
5
-
-
34547515589
-
Cryptic proteolytic activity of dihydrolipoamide dehydrogenase
-
COI: 1:CAS:528:DC%2BD2sXks1artbw%3D, PID: 17404228
-
Babady NE, Pang YP, Elpeleg O, Isaya G (2007) Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. Proc Natl Acad Sci USA 104:6158–6163. doi:10.1073/pnas.0610618104.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 6158-6163
-
-
Babady, N.E.1
Pang, Y.P.2
Elpeleg, O.3
Isaya, G.4
-
6
-
-
0034610781
-
Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor
-
COI: 1:CAS:528:DC%2BD3cXlsl2hsw%3D%3D, PID: 10638746
-
Bennett MJ, Lebron JA, Bjorkman PJ (2000) Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature 403:46–53. doi:10.1038/47417.
-
(2000)
Nature
, vol.403
, pp. 46-53
-
-
Bennett, M.J.1
Lebron, J.A.2
Bjorkman, P.J.3
-
7
-
-
0034731382
-
Protein engineering of subtilisin
-
COI: 1:CAS:528:DC%2BD3MXitl2lsQ%3D%3D, PID: 11150607
-
Bryan PN (2000) Protein engineering of subtilisin. Biochim Biophys Acta 1543:203–222.
-
(2000)
Biochim Biophys Acta
, vol.1543
, pp. 203-222
-
-
Bryan, P.N.1
-
8
-
-
67749137351
-
Functional annotations improve the predictive score of human disease-related mutations in proteins
-
COI: 1:CAS:528:DC%2BD1MXhtVKrtrfM, PID: 19514061
-
Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R (2009) Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 30:1237–1244. doi:10.1002/humu.21047.
-
(2009)
Hum Mutat
, vol.30
, pp. 1237-1244
-
-
Calabrese, R.1
Capriotti, E.2
Fariselli, P.3
Martelli, P.L.4
Casadio, R.5
-
9
-
-
27544469800
-
Predicting protein stability changes from sequences using support vector machines
-
Capriotti E, Fariselli P, Calabrese R, Casadio R (2005) Predicting protein stability changes from sequences using support vector machines. Bioinformatics 21(Suppl 2):254–258. doi:10.1093/bioinformatics/bti1109.
-
(2005)
Bioinformatics
, vol.21
, pp. 254-258
-
-
Capriotti, E.1
Fariselli, P.2
Calabrese, R.3
Casadio, R.4
-
10
-
-
0030443398
-
Stability and folding of the SH3 domain of Bruton’s tyrosine kinase
-
COI: 1:CAS:528:DyaK2sXhvFOrsA%3D%3D, PID: 8990499
-
Chen YJ, Lin SC, Tzeng SR, Patel HV, Lyu PC, Cheng JW (1996) Stability and folding of the SH3 domain of Bruton’s tyrosine kinase. Proteins 26:465–471. doi:10.1002/(sici)1097-0134(199612)26:4<465:aid-prot7>3.0.co;2-a.
-
(1996)
Proteins
, vol.26
, pp. 465-471
-
-
Chen, Y.J.1
Lin, S.C.2
Tzeng, S.R.3
Patel, H.V.4
Lyu, P.C.5
Cheng, J.W.6
-
11
-
-
78149436073
-
Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutations
-
COI: 1:CAS:528:DC%2BC3cXhtlalurrK, PID: 20949975
-
Chen W, van der Kamp MW, Daggett V (2010) Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutations. Biochemistry 49:9874–9881. doi:10.1021/bi101449f.
-
(2010)
Biochemistry
, vol.49
, pp. 9874-9881
-
-
Chen, W.1
van der Kamp, M.W.2
Daggett, V.3
-
12
-
-
33644847172
-
Prediction of protein stability changes for single-site mutations using support vector machines
-
COI: 1:CAS:528:DC%2BD28XivVWnsrY%3D, PID: 16372356
-
Cheng J, Randall A, Baldi P (2006) Prediction of protein stability changes for single-site mutations using support vector machines. Proteins 62:1125–1132. doi:10.1002/prot.20810.
-
(2006)
Proteins
, vol.62
, pp. 1125-1132
-
-
Cheng, J.1
Randall, A.2
Baldi, P.3
-
13
-
-
0032708771
-
Mutational analysis of acylphosphatase suggests the importance of topology and contact order in protein folding
-
COI: 1:CAS:528:DyaK1MXnt1Grur0%3D, PID: 10542090
-
Chiti F, Taddei N, White PM, Bucciantini M, Magherini F, Stefani M, Dobson CM (1999) Mutational analysis of acylphosphatase suggests the importance of topology and contact order in protein folding. Nat Struct Biol 6:1005–1009. doi:10.1038/14890.
-
(1999)
Nat Struct Biol
, vol.6
, pp. 1005-1009
-
-
Chiti, F.1
Taddei, N.2
White, P.M.3
Bucciantini, M.4
Magherini, F.5
Stefani, M.6
Dobson, C.M.7
-
14
-
-
33947517558
-
AGGRESCAN: a server for the prediction and evaluation of “hot spots” of aggregation in polypeptides
-
Conchillo-Sole O, de Groot NS, Aviles FX, Vendrell J, Daura X, Ventura S (2007) AGGRESCAN: a server for the prediction and evaluation of “hot spots” of aggregation in polypeptides. BMC Bioinform 8:65. doi:10.1186/1471-2105-8-65.
-
(2007)
BMC Bioinform
, vol.8
, pp. 65
-
-
Conchillo-Sole, O.1
de Groot, N.S.2
Aviles, F.X.3
Vendrell, J.4
Daura, X.5
Ventura, S.6
-
15
-
-
0037389268
-
Bruton tyrosine kinase gene mutations in Argentina
-
PID: 12655572
-
Danielian S, El-Hakeh J, Basilico G, Oleastro M, Rosenzweig S, Feldman G, Berozdnik L, Galicchio M, Gallardo A, Giraudi V, Liberatore D, Rivas EM, Zelazko M (2003) Bruton tyrosine kinase gene mutations in Argentina. Hum Mutat 21:451. doi:10.1002/humu.9131.
-
(2003)
Hum Mutat
, vol.21
, pp. 451
-
-
Danielian, S.1
El-Hakeh, J.2
Basilico, G.3
Oleastro, M.4
Rosenzweig, S.5
Feldman, G.6
Berozdnik, L.7
Galicchio, M.8
Gallardo, A.9
Giraudi, V.10
Liberatore, D.11
Rivas, E.M.12
Zelazko, M.13
-
16
-
-
84878402423
-
Conformational defects underlie proteasomal degradation of Dent’s disease-causing mutants of ClC-5
-
PID: 23566014
-
D’Antonio C, Molinski S, Ahmadi S, Huan LJ, Wellhauser L, Bear CE (2013) Conformational defects underlie proteasomal degradation of Dent’s disease-causing mutants of ClC-5. Biochem J 452:391–400. doi:10.1042/bj20121848.
-
(2013)
Biochem J
, vol.452
, pp. 391-400
-
-
D’Antonio, C.1
Molinski, S.2
Ahmadi, S.3
Huan, L.J.4
Wellhauser, L.5
Bear, C.E.6
-
17
-
-
84892739749
-
Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset
-
PID: 24348229
-
de Beer TA, Laskowski RA, Parks SL, Sipos B, Goldman N, Thornton JM (2013) Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset. PLoS Comput Biol 9:e1003382. doi:10.1371/journal.pcbi.1003382.
-
(2013)
PLoS Comput Biol
, vol.9
, pp. e1003382
-
-
de Beer, T.A.1
Laskowski, R.A.2
Parks, S.L.3
Sipos, B.4
Goldman, N.5
Thornton, J.M.6
-
18
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121–124.
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
-
19
-
-
84904406947
-
Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation
-
COI: 1:CAS:528:DC%2BC2cXhtF2ltL%2FM, PID: 24848695
-
Famiglietti ML, Estreicher A, Gos A, Bolleman J, Gehant S, Breuza L, Bridge A, Poux S, Redaschi N, Bougueleret L, Xenarios I (2014) Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation. Hum Mutat 35:927–935. doi:10.1002/humu.22594.
-
(2014)
Hum Mutat
, vol.35
, pp. 927-935
-
-
Famiglietti, M.L.1
Estreicher, A.2
Gos, A.3
Bolleman, J.4
Gehant, S.5
Breuza, L.6
Bridge, A.7
Poux, S.8
Redaschi, N.9
Bougueleret, L.10
Xenarios, I.11
-
20
-
-
33845227579
-
Effects of the single point genetic mutation D54G on muscle creatine kinase activity, structure and stability
-
COI: 1:CAS:528:DC%2BD28Xht12ktLvE, PID: 17030001
-
Feng S, Zhao TJ, Zhou HM, Yan YB (2007) Effects of the single point genetic mutation D54G on muscle creatine kinase activity, structure and stability. Int J Biochem Cell Biol 39:392–401. doi:10.1016/j.biocel.2006.09.004.
-
(2007)
Int J Biochem Cell Biol
, vol.39
, pp. 392-401
-
-
Feng, S.1
Zhao, T.J.2
Zhou, H.M.3
Yan, Y.B.4
-
21
-
-
0036300807
-
Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties
-
COI: 1:CAS:528:DC%2BD38XntlKqtQ%3D%3D, PID: 11812146
-
Ferrer-Costa C, Orozco M, de la Cruz X (2002) Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties. J Mol Biol 315:771–786. doi:10.1006/jmbi.2001.5255.
-
(2002)
J Mol Biol
, vol.315
, pp. 771-786
-
-
Ferrer-Costa, C.1
Orozco, M.2
de la Cruz, X.3
-
22
-
-
1642326167
-
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia
-
PID: 14974089
-
Fiorini M, Franceschini R, Soresina A, Schumacher RF, Ugazio AG, Rossi P, Plebani A, Notarangelo LD (2004) BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia. Hum Mutat 23:286. doi:10.1002/humu.9219.
-
(2004)
Hum Mutat
, vol.23
, pp. 286
-
-
Fiorini, M.1
Franceschini, R.2
Soresina, A.3
Schumacher, R.F.4
Ugazio, A.G.5
Rossi, P.6
Plebani, A.7
Notarangelo, L.D.8
-
23
-
-
79960904147
-
A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus–Merzbacher disease
-
PID: 21177054
-
Fukumura S, Adachi N, Nagao M, Tsutsumi H (2011) A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus–Merzbacher disease. Brain Dev 33:697–699. doi:10.1016/j.braindev.2010.11.010.
-
(2011)
Brain Dev
, vol.33
, pp. 697-699
-
-
Fukumura, S.1
Adachi, N.2
Nagao, M.3
Tsutsumi, H.4
-
24
-
-
84867747152
-
Current challenges in genome annotation through structural biology and bioinformatics
-
COI: 1:CAS:528:DC%2BC38XhtF2nsLbN, PID: 22884875
-
Furnham N, de Beer TA, Thornton JM (2012) Current challenges in genome annotation through structural biology and bioinformatics. Curr Opin Struct Biol 22:594–601. doi:10.1016/j.sbi.2012.07.005.
-
(2012)
Curr Opin Struct Biol
, vol.22
, pp. 594-601
-
-
Furnham, N.1
de Beer, T.A.2
Thornton, J.M.3
-
25
-
-
0034938535
-
Bruton’s tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females
-
COI: 1:CAS:528:DC%2BD3MXmtVyisrc%3D, PID: 11472359
-
Futatani T, Watanabe C, Baba Y, Tsukada S, Ochs HD (2001) Bruton’s tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females. Br J Haematol 114:141–149.
-
(2001)
Br J Haematol
, vol.114
, pp. 141-149
-
-
Futatani, T.1
Watanabe, C.2
Baba, Y.3
Tsukada, S.4
Ochs, H.D.5
-
26
-
-
46149093432
-
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability
-
COI: 1:CAS:528:DC%2BD1cXos1Cisr4%3D, PID: 18538294
-
Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC (2008) Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. Am J Hum Genet 83:5–17. doi:10.1016/j.ajhg.2008.05.013.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 5-17
-
-
Gersting, S.W.1
Kemter, K.F.2
Staudigl, M.3
Messing, D.D.4
Danecka, M.K.5
Lagler, F.B.6
Sommerhoff, C.P.7
Roscher, A.A.8
Muntau, A.C.9
-
27
-
-
84908504883
-
Protein engineering of the N-terminus of NEMO: structure stabilization and rescue of IKKβ binding
-
COI: 1:CAS:528:DC%2BC2cXhs1yju7bP, PID: 25286246
-
Guo B, Audu CO, Cochran JC, Mierke DF, Pellegrini M (2014) Protein engineering of the N-terminus of NEMO: structure stabilization and rescue of IKKβ binding. Biochemistry 53:6776–6785. doi:10.1021/bi500861x.
-
(2014)
Biochemistry
, vol.53
, pp. 6776-6785
-
-
Guo, B.1
Audu, C.O.2
Cochran, J.C.3
Mierke, D.F.4
Pellegrini, M.5
-
28
-
-
84885191320
-
A gene-specific method for predicting hemophilia-causing point mutations
-
COI: 1:CAS:528:DC%2BC3sXhsVSktrjI, PID: 23920358
-
Hamasaki-Katagiri N, Salari R, Wu A, Qi Y, Schiller T, Filiberto AC, Schisterman EF, Komar AA, Przytycka TM, Kimchi-Sarfaty C (2013) A gene-specific method for predicting hemophilia-causing point mutations. J Mol Biol 425:4023–4033. doi:10.1016/j.jmb.2013.07.037.
-
(2013)
J Mol Biol
, vol.425
, pp. 4023-4033
-
-
Hamasaki-Katagiri, N.1
Salari, R.2
Wu, A.3
Qi, Y.4
Schiller, T.5
Filiberto, A.C.6
Schisterman, E.F.7
Komar, A.A.8
Przytycka, T.M.9
Kimchi-Sarfaty, C.10
-
29
-
-
73249144328
-
Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W
-
COI: 1:CAS:528:DC%2BD1MXhsVKjtL%2FJ, PID: 19846785
-
He X, Lobsiger J, Stocker A (2009) Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W. Proc Natl Acad Sci USA 106:18545–18550. doi:10.1073/pnas.0907454106.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 18545-18550
-
-
He, X.1
Lobsiger, J.2
Stocker, A.3
-
30
-
-
0141853011
-
Genotype is an important determinant of phenotype in adenosine deaminase deficiency
-
COI: 1:CAS:528:DC%2BD3sXnt1Gqtb8%3D, PID: 14499267
-
Hershfield MS (2003) Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol 15:571–577.
-
(2003)
Curr Opin Immunol
, vol.15
, pp. 571-577
-
-
Hershfield, M.S.1
-
31
-
-
18544400057
-
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course
-
COI: 1:STN:280:DyaK1c7hvVemtQ%3D%3D, PID: 9445504
-
Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Bäckesjö CM, Vihinen M, Hubbard SR, Belohradsky BH, Smith CI, Meindl A (1998) Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics 101:276–284.
-
(1998)
Pediatrics
, vol.101
, pp. 276-284
-
-
Holinski-Feder, E.1
Weiss, M.2
Brandau, O.3
Jedele, K.B.4
Nore, B.5
Bäckesjö, C.M.6
Vihinen, M.7
Hubbard, S.R.8
Belohradsky, B.H.9
Smith, C.I.10
Meindl, A.11
-
32
-
-
84888255102
-
wKinMut: an integrated tool for the analysis and interpretation of mutations in human protein kinases
-
Izarzugaza JM, Vazquez M, del Pozo A, Valencia A (2013) wKinMut: an integrated tool for the analysis and interpretation of mutations in human protein kinases. BMC Bioinform 14:345. doi:10.1186/1471-2105-14-345.
-
(2013)
BMC Bioinform
, vol.14
, pp. 345
-
-
Izarzugaza, J.M.1
Vazquez, M.2
del Pozo, A.3
Valencia, A.4
-
33
-
-
84868118712
-
Evidence of asymmetric cell division and centrosome inheritance in human neuroblastoma cells
-
COI: 1:CAS:528:DC%2BC38Xhsl2ktbbI, PID: 23064640
-
Izumi H, Kaneko Y (2012) Evidence of asymmetric cell division and centrosome inheritance in human neuroblastoma cells. Proc Natl Acad Sci USA 109:18048–18053. doi:10.1073/pnas.1205525109.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 18048-18053
-
-
Izumi, H.1
Kaneko, Y.2
-
34
-
-
10244243692
-
Mutations of the Wiskott–Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation
-
COI: 1:CAS:528:DC%2BD2cXhtFaju7jO, PID: 15284122
-
Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD (2004) Mutations of the Wiskott–Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 104:4010–4019. doi:10.1182/blood-2003-05-1592.
-
(2004)
Blood
, vol.104
, pp. 4010-4019
-
-
Jin, Y.1
Mazza, C.2
Christie, J.R.3
Giliani, S.4
Fiorini, M.5
Mella, P.6
Gandellini, F.7
Stewart, D.M.8
Zhu, Q.9
Nelson, D.L.10
Notarangelo, L.D.11
Ochs, H.D.12
-
35
-
-
84856888538
-
Clinical phenotypes associated with type II collagen mutations
-
PID: 21332586
-
Kannu P, Bateman J, Savarirayan R (2012) Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health 48:E38–E43. doi:10.1111/j.1440-1754.2010.01979.x.
-
(2012)
J Paediatr Child Health
, vol.48
, pp. E38-E43
-
-
Kannu, P.1
Bateman, J.2
Savarirayan, R.3
-
36
-
-
34848835086
-
Spectrum of disease-causing mutations in protein secondary structures
-
PID: 17727703
-
Khan S, Vihinen M (2007) Spectrum of disease-causing mutations in protein secondary structures. BMC Struct Biol 7:56. doi:10.1186/1472-6807-7-56.
-
(2007)
BMC Struct Biol
, vol.7
, pp. 56
-
-
Khan, S.1
Vihinen, M.2
-
37
-
-
77952706843
-
Performance of protein stability predictors
-
COI: 1:CAS:528:DC%2BC3cXosl2lu70%3D, PID: 20232415
-
Khan S, Vihinen M (2010) Performance of protein stability predictors. Hum Mutat 31:675–684. doi:10.1002/humu.21242.
-
(2010)
Hum Mutat
, vol.31
, pp. 675-684
-
-
Khan, S.1
Vihinen, M.2
-
38
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
COI: 1:CAS:528:DC%2BC2cXhs1Sjt7g%3D, PID: 24487276
-
Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310–315. doi:10.1038/ng.2892.
-
(2014)
Nat Genet
, vol.46
, pp. 310-315
-
-
Kircher, M.1
Witten, D.M.2
Jain, P.3
O’Roak, B.J.4
Cooper, G.M.5
-
39
-
-
84901771117
-
Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics
-
COI: 1:CAS:528:DC%2BC2MXjtFymur4%3D, PID: 24886813
-
Kucukkal TG, Yang Y, Chapman SC, Cao W, Alexov E (2014) Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics. Int J Mol Sci 15:9670–9717. doi:10.3390/ijms15069670.
-
(2014)
Int J Mol Sci
, vol.15
, pp. 9670-9717
-
-
Kucukkal, T.G.1
Yang, Y.2
Chapman, S.C.3
Cao, W.4
Alexov, E.5
-
40
-
-
46449121011
-
Genome wide analysis of pathogenic SH2 domain mutations
-
COI: 1:CAS:528:DC%2BD1cXnvVWhtLk%3D, PID: 18260110
-
Lappalainen I, Thusberg J, Shen B, Vihinen M (2008) Genome wide analysis of pathogenic SH2 domain mutations. Proteins 72:779–792. doi:10.1002/prot.21970.
-
(2008)
Proteins
, vol.72
, pp. 779-792
-
-
Lappalainen, I.1
Thusberg, J.2
Shen, B.3
Vihinen, M.4
-
41
-
-
84865445532
-
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency
-
COI: 1:CAS:528:DC%2BC38Xht1Cgtr7L, PID: 22733820
-
Lasry I, Seo YA, Ityel H, Shalva N, Pode-Shakked B, Glaser F, Berman B, Berezovsky I, Goncearenco A, Klar A, Levy J, Anikster Y, Kelleher SL, Assaraf YG (2012) A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency. J Biol Chem 287:29348–29361. doi:10.1074/jbc.M112.368159.
-
(2012)
J Biol Chem
, vol.287
, pp. 29348-29361
-
-
Lasry, I.1
Seo, Y.A.2
Ityel, H.3
Shalva, N.4
Pode-Shakked, B.5
Glaser, F.6
Berman, B.7
Berezovsky, I.8
Goncearenco, A.9
Klar, A.10
Levy, J.11
Anikster, Y.12
Kelleher, S.L.13
Assaraf, Y.G.14
-
42
-
-
79954434760
-
PROlocalizer: integrated web service for protein subcellular localization prediction
-
COI: 1:CAS:528:DC%2BC3MXitFGqs7Y%3D, PID: 20811800
-
Laurila K, Vihinen M (2011) PROlocalizer: integrated web service for protein subcellular localization prediction. Amino Acids 40:975–980. doi:10.1007/s00726-010-0724-y.
-
(2011)
Amino Acids
, vol.40
, pp. 975-980
-
-
Laurila, K.1
Vihinen, M.2
-
43
-
-
33748432548
-
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration
-
COI: 1:CAS:528:DC%2BD28XptFCmtbk%3D, PID: 16906134
-
Lee JW, Beebe K, Nangle LA, Jang J, Longo-Guess CM, Cook SA, Davisson MT, Sundberg JP, Schimmel P, Ackerman SL (2006) Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature 443:50–55. doi:10.1038/nature05096.
-
(2006)
Nature
, vol.443
, pp. 50-55
-
-
Lee, J.W.1
Beebe, K.2
Nangle, L.A.3
Jang, J.4
Longo-Guess, C.M.5
Cook, S.A.6
Davisson, M.T.7
Sundberg, J.P.8
Schimmel, P.9
Ackerman, S.L.10
-
44
-
-
84865598758
-
Neuroferritinopathy
-
PID: 22818529
-
Lehn A, Boyle R, Brown H, Airey C, Mellick G (2012) Neuroferritinopathy. Parkinsonism Relat Disord 18:909–915. doi:10.1016/j.parkreldis.2012.06.021.
-
(2012)
Parkinsonism Relat Disord
, vol.18
, pp. 909-915
-
-
Lehn, A.1
Boyle, R.2
Brown, H.3
Airey, C.4
Mellick, G.5
-
45
-
-
77449160593
-
Structure and dynamics of NBD1 from CFTR characterized using crystallography and hydrogen/deuterium exchange mass spectrometry
-
COI: 1:CAS:528:DC%2BC3cXht12murs%3D, PID: 19944699
-
Lewis HA, Wang C, Zhao X, Hamuro Y, Conners K, Kearins MC, Lu F, Sauder JM, Molnar KS, Coales SJ, Maloney PC, Guggino WB, Wetmore DR, Weber PC, Hunt JF (2010) Structure and dynamics of NBD1 from CFTR characterized using crystallography and hydrogen/deuterium exchange mass spectrometry. J Mol Biol 396:406–430. doi:10.1016/j.jmb.2009.11.051.
-
(2010)
J Mol Biol
, vol.396
, pp. 406-430
-
-
Lewis, H.A.1
Wang, C.2
Zhao, X.3
Hamuro, Y.4
Conners, K.5
Kearins, M.C.6
Lu, F.7
Sauder, J.M.8
Molnar, K.S.9
Coales, S.J.10
Maloney, P.C.11
Guggino, W.B.12
Wetmore, D.R.13
Weber, P.C.14
Hunt, J.F.15
-
46
-
-
70350671733
-
Automated inference of molecular mechanisms of disease from amino acid substitutions
-
COI: 1:CAS:528:DC%2BD1MXhtlWls7vL, PID: 19734154
-
Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P (2009) Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25:2744–2750. doi:10.1093/bioinformatics/btp528.
-
(2009)
Bioinformatics
, vol.25
, pp. 2744-2750
-
-
Li, B.1
Krishnan, V.G.2
Mort, M.E.3
Xin, F.4
Kamati, K.K.5
Cooper, D.N.6
Mooney, S.D.7
Radivojac, P.8
-
47
-
-
58149280217
-
Crystal structure of human adenylate kinase 4 (L171P) suggests the role of hinge region in protein domain motion
-
COI: 1:CAS:528:DC%2BD1MXosVSgtA%3D%3D, PID: 19073142
-
Liu R, Xu H, Wei Z, Wang Y, Lin Y, Gong W (2009) Crystal structure of human adenylate kinase 4 (L171P) suggests the role of hinge region in protein domain motion. Biochem Biophys Res Commun 379:92–97. doi:10.1016/j.bbrc.2008.12.012.
-
(2009)
Biochem Biophys Res Commun
, vol.379
, pp. 92-97
-
-
Liu, R.1
Xu, H.2
Wei, Z.3
Wang, Y.4
Lin, Y.5
Gong, W.6
-
48
-
-
77956912166
-
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity
-
COI: 1:CAS:528:DC%2BC3cXhtFKks7nE, PID: 20659899
-
Longley MJ, Humble MM, Sharief FS, Copeland WC (2010) Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. J Biol Chem 285:29690–29702. doi:10.1074/jbc.M110.151795.
-
(2010)
J Biol Chem
, vol.285
, pp. 29690-29702
-
-
Longley, M.J.1
Humble, M.M.2
Sharief, F.S.3
Copeland, W.C.4
-
49
-
-
84856729323
-
ClC-5 mutations associated with Dent’s disease: a major role of the dimer interface
-
COI: 1:CAS:528:DC%2BC38XpslylsQ%3D%3D, PID: 22083641
-
Lourdel S, Grand T, Burgos J, González W, Sepulveda FV, Teulon J (2012) ClC-5 mutations associated with Dent’s disease: a major role of the dimer interface. Pflugers Arch 463:247–256. doi:10.1007/s00424-011-1052-0.
-
(2012)
Pflugers Arch
, vol.463
, pp. 247-256
-
-
Lourdel, S.1
Grand, T.2
Burgos, J.3
González, W.4
Sepulveda, F.V.5
Teulon, J.6
-
50
-
-
70449356628
-
Missense mutations in the SH3TC2 protein causing Charcot–Marie–Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
-
COI: 1:CAS:528:DC%2BD1MXhtlygs7jP, PID: 19744956
-
Lupo V, Galindo MI, Martinez-Rubio D, Sevilla T, Vilchez JJ, Palau F, Espinos C (2009) Missense mutations in the SH3TC2 protein causing Charcot–Marie–Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet 18:4603–4614. doi:10.1093/hmg/ddp427.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4603-4614
-
-
Lupo, V.1
Galindo, M.I.2
Martinez-Rubio, D.3
Sevilla, T.4
Vilchez, J.J.5
Palau, F.6
Espinos, C.7
-
51
-
-
0029087567
-
Src family protein tyrosine kinases induce autoactivation of Bruton’s tyrosine kinase
-
COI: 1:CAS:528:DyaK2MXotlant74%3D, PID: 7565679
-
Mahajan S, Fargnoli J, Burkhardt AL, Kut SA, Saouaf SJ, Bolen JB (1995) Src family protein tyrosine kinases induce autoactivation of Bruton’s tyrosine kinase. Mol Cell Biol 15:5304–5311.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 5304-5311
-
-
Mahajan, S.1
Fargnoli, J.2
Burkhardt, A.L.3
Kut, S.A.4
Saouaf, S.J.5
Bolen, J.B.6
-
52
-
-
0035798646
-
Crystal structure of Bruton’s tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia
-
COI: 1:CAS:528:DC%2BD3MXosVKgtLc%3D, PID: 11527964
-
Mao C, Zhou M, Uckun FM (2001) Crystal structure of Bruton’s tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia. J Biol Chem 276:41435–41443. doi:10.1074/jbc.M104828200.
-
(2001)
J Biol Chem
, vol.276
, pp. 41435-41443
-
-
Mao, C.1
Zhou, M.2
Uckun, F.M.3
-
53
-
-
84865727175
-
Type II antithrombin deficiency caused by a large in-frame insertion: structural, functional and pathological relevance
-
PID: 22758787
-
Martínez-Martínez I, Johnson DJ, Yamasaki M, Navarro-Fernández J, Ordóñez A, Vicente V, Huntington JA, Corral J (2012) Type II antithrombin deficiency caused by a large in-frame insertion: structural, functional and pathological relevance. J Thromb Haemost 10:1859–1866. doi:10.1111/j.1538-7836.2012.04839.x.
-
(2012)
J Thromb Haemost
, vol.10
, pp. 1859-1866
-
-
Martínez-Martínez, I.1
Johnson, D.J.2
Yamasaki, M.3
Navarro-Fernández, J.4
Ordóñez, A.5
Vicente, V.6
Huntington, J.A.7
Corral, J.8
-
54
-
-
0034655206
-
Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton’s tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis
-
COI: 1:CAS:528:DC%2BD3cXis1Wksrk%3D, PID: 10754312
-
Mattsson PT, Lappalainen I, Bäckesjö CM, Brockmann E, Lauren S, Vihinen M, Smith CIE (2000) Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton’s tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis. J Immunol 164:4170–4177.
-
(2000)
J Immunol
, vol.164
, pp. 4170-4177
-
-
Mattsson, P.T.1
Lappalainen, I.2
Bäckesjö, C.M.3
Brockmann, E.4
Lauren, S.5
Vihinen, M.6
Smith, C.I.E.7
-
55
-
-
77649265357
-
Exploring the sequence determinants of amyloid structure using position-specific scoring matrices
-
COI: 1:CAS:528:DC%2BC3cXhvFGmsbw%3D, PID: 20154676
-
Maurer-Stroh S, Debulpaep M, Kuemmerer N, de la Lopez Paz M, Martins IC, Reumers J, Morris KL, Copland A, Serpell L, Serrano L, Schymkowitz JW, Rousseau F (2010) Exploring the sequence determinants of amyloid structure using position-specific scoring matrices. Nat Methods 7:237–242. doi:10.1038/nmeth.1432.
-
(2010)
Nat Methods
, vol.7
, pp. 237-242
-
-
Maurer-Stroh, S.1
Debulpaep, M.2
Kuemmerer, N.3
de la Lopez Paz, M.4
Martins, I.C.5
Reumers, J.6
Morris, K.L.7
Copland, A.8
Serpell, L.9
Serrano, L.10
Schymkowitz, J.W.11
Rousseau, F.12
-
56
-
-
0027363264
-
Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity
-
COI: 1:CAS:528:DyaK3sXmsVOitLo%3D, PID: 8218290
-
McCutchen SL, Colon W, Kelly JW (1993) Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity. Biochemistry 32:12119–12127.
-
(1993)
Biochemistry
, vol.32
, pp. 12119-12127
-
-
McCutchen, S.L.1
Colon, W.2
Kelly, J.W.3
-
57
-
-
84872123748
-
On the molecular basis of D-bifunctional protein deficiency type III
-
PID: 23308274
-
Mehtälä ML, Lensink MF, Pietikäinen LP, Hiltunen JK, Glumoff T (2013) On the molecular basis of D-bifunctional protein deficiency type III. PLoS One 8:e53688. doi:10.1371/journal.pone.0053688.
-
(2013)
PLoS One
, vol.8
, pp. e53688
-
-
Mehtälä, M.L.1
Lensink, M.F.2
Pietikäinen, L.P.3
Hiltunen, J.K.4
Glumoff, T.5
-
58
-
-
84922351308
-
-
Niroula A, Urolagin S, Vihinen M (2015) PON-P2: prediction method for fast and reliable identification of harmful variants. PLoS One (in press)
-
Niroula A, Urolagin S, Vihinen M (2015) PON-P2: prediction method for fast and reliable identification of harmful variants. PLoS One (in press).
-
-
-
-
59
-
-
4444329802
-
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration
-
PID: 15505030
-
Nishiguchi KM, Sokal I, Yang L, Roychowdhury N, Palczewski K, Berson EL, Dryja TP, Baehr W (2004) A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci 45:3863–3870. doi:10.1167/iovs.04-0590.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 3863-3870
-
-
Nishiguchi, K.M.1
Sokal, I.2
Yang, L.3
Roychowdhury, N.4
Palczewski, K.5
Berson, E.L.6
Dryja, T.P.7
Baehr, W.8
-
60
-
-
84887215620
-
A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2
-
COI: 1:CAS:528:DC%2BC3sXhs1yitbrI, PID: 24103481
-
Noetzli L, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J (2014) A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2. Gene 533:447–450. doi:10.1016/j.gene.2013.09.076.
-
(2014)
Gene
, vol.533
, pp. 447-450
-
-
Noetzli, L.1
Sanz, P.G.2
Brodsky, G.L.3
Hinckley, J.D.4
Giugni, J.C.5
Giannaula, R.J.6
Gonzalez-Alegre, P.7
Di Paola, J.8
-
61
-
-
84872360566
-
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms
-
COI: 1:CAS:528:DC%2BC3sXktVyrug%3D%3D, PID: 22825594
-
Nowak KJ, Ravenscroft G, Laing NG (2013) Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms. Acta Neuropathol 125:19–32. doi:10.1007/s00401-012-1019-z.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 19-32
-
-
Nowak, K.J.1
Ravenscroft, G.2
Laing, N.G.3
-
62
-
-
0033547358
-
Pleckstrin homology domains of tec family protein kinases
-
COI: 1:CAS:528:DyaK1MXntVCnurY%3D, PID: 10548506
-
Okoh MP, Vihinen M (1999) Pleckstrin homology domains of tec family protein kinases. Biochem Biophys Res Commun 265:151–157. doi:10.1006/bbrc.1999.1407.
-
(1999)
Biochem Biophys Res Commun
, vol.265
, pp. 151-157
-
-
Okoh, M.P.1
Vihinen, M.2
-
63
-
-
84855186874
-
Heterozygous Bβ-chain C-terminal 12 amino acid elongation variant, BβX462W (Kyoto VI), showed dysfibrinogenemia
-
COI: 1:CAS:528:DC%2BC3MXhs1Gru73L, PID: 22001526
-
Okumura N, Terasawa F, Takezawa Y, Hirota-Kawadobora M, Inaba T, Fujita N, Saito M, Sugano M, Honda T (2012) Heterozygous Bβ-chain C-terminal 12 amino acid elongation variant, BβX462W (Kyoto VI), showed dysfibrinogenemia. Blood Coagul Fibrinolysis 23:87–90. doi:10.1097/MBC.0b013e32834cb243.
-
(2012)
Blood Coagul Fibrinolysis
, vol.23
, pp. 87-90
-
-
Okumura, N.1
Terasawa, F.2
Takezawa, Y.3
Hirota-Kawadobora, M.4
Inaba, T.5
Fujita, N.6
Saito, M.7
Sugano, M.8
Honda, T.9
-
64
-
-
84863875423
-
PON-P: integrated predictor for pathogenicity of missense variants
-
COI: 1:CAS:528:DC%2BC38XhtVeju7nP, PID: 22505138
-
Olatubosun A, Väliaho J, Härkönen J, Thusberg J, Vihinen M (2012) PON-P: integrated predictor for pathogenicity of missense variants. Hum Mutat 33:1166–1174. doi:10.1002/humu.22102.
-
(2012)
Hum Mutat
, vol.33
, pp. 1166-1174
-
-
Olatubosun, A.1
Väliaho, J.2
Härkönen, J.3
Thusberg, J.4
Vihinen, M.5
-
65
-
-
40949117264
-
Flexible nets: disorder and induced fit in the associations of p53 and 14-3-3 with their partners
-
Oldfield CJ, Meng J, Yang JY, Yang MQ, Uversky VN, Dunker AK (2008) Flexible nets: disorder and induced fit in the associations of p53 and 14-3-3 with their partners. BMC Genom 9(Suppl 1):S1. doi:10.1186/1471-2164-9-s1-s1.
-
(2008)
BMC Genom
, vol.9
, pp. S1
-
-
Oldfield, C.J.1
Meng, J.2
Yang, J.Y.3
Yang, M.Q.4
Uversky, V.N.5
Dunker, A.K.6
-
66
-
-
56249084550
-
Mutation of the IFNAR-1 receptor binding site of human IFN-α2 generates type I IFN competitive antagonists
-
COI: 1:CAS:528:DC%2BD1cXhtlGrs73E, PID: 18937499
-
Pan M, Kalie E, Scaglione BJ, Raveche ES, Schreiber G, Langer JA (2008) Mutation of the IFNAR-1 receptor binding site of human IFN-α2 generates type I IFN competitive antagonists. Biochemistry 47:12018–12027. doi:10.1021/bi801588g.
-
(2008)
Biochemistry
, vol.47
, pp. 12018-12027
-
-
Pan, M.1
Kalie, E.2
Scaglione, B.J.3
Raveche, E.S.4
Schreiber, G.5
Langer, J.A.6
-
67
-
-
84891339888
-
The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein
-
COI: 1:CAS:528:DC%2BC2cXksFOntg%3D%3D, PID: 24275490
-
Perniola R, Musco G (2014) The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein. Biochim Biophys Acta 1842:326–337. doi:10.1016/j.bbadis.2013.11.020.
-
(2014)
Biochim Biophys Acta
, vol.1842
, pp. 326-337
-
-
Perniola, R.1
Musco, G.2
-
68
-
-
33751011339
-
Immunodeficiency mutation databases (IDbases)
-
PID: 17004234
-
Piirilä H, Väliaho J, Vihinen M (2006) Immunodeficiency mutation databases (IDbases). Hum Mutat 27:1200–1208. doi:10.1002/humu.20405.
-
(2006)
Hum Mutat
, vol.27
, pp. 1200-1208
-
-
Piirilä, H.1
Väliaho, J.2
Vihinen, M.3
-
69
-
-
0346729697
-
Neuroprotective functions of prion protein
-
COI: 1:CAS:528:DC%2BD2cXjvV2muw%3D%3D, PID: 14705136
-
Roucou X, Gains M, LeBlanc AC (2004) Neuroprotective functions of prion protein. J Neurosci Res 75:153–161. doi:10.1002/jnr.10864.
-
(2004)
J Neurosci Res
, vol.75
, pp. 153-161
-
-
Roucou, X.1
Gains, M.2
LeBlanc, A.C.3
-
70
-
-
84922011086
-
VariSNP, a benchmark database for variations from dbSNP. Hum Mutat
-
Schaafsma G, Vihinen M (2014) VariSNP, a benchmark database for variations from dbSNP. Hum Mutat. doi:10.1002/humu.22727.
-
(2014)
doi:10.1002/humu.22727
-
-
Schaafsma, G.1
Vihinen, M.2
-
71
-
-
84882448815
-
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
-
COI: 1:CAS:528:DC%2BC3sXhtlSit77M, PID: 23321616
-
Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gartner J (2013) Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. Eur J Hum Genet 21:1020–1023. doi:10.1038/ejhg.2012.291.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 1020-1023
-
-
Schlotawa, L.1
Radhakrishnan, K.2
Baumgartner, M.3
Schmid, R.4
Schmidt, B.5
Dierks, T.6
Gartner, J.7
-
72
-
-
84897456458
-
MutationTaster2: mutation prediction for the deep-sequencing age
-
COI: 1:CAS:528:DC%2BC2cXltFaisb0%3D, PID: 24681721
-
Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361–362. doi:10.1038/nmeth.2890.
-
(2014)
Nat Methods
, vol.11
, pp. 361-362
-
-
Schwarz, J.M.1
Cooper, D.N.2
Schuelke, M.3
Seelow, D.4
-
73
-
-
0032544408
-
55 → Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils
-
PID: 9733771
-
55 → Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils. J Biol Chem 273:24715–24722.
-
(1998)
J Biol Chem
, vol.273
, pp. 24715-24722
-
-
Sebastião, M.P.1
Saraiva, M.J.2
Damas, A.M.3
-
74
-
-
84864927716
-
A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus
-
COI: 1:CAS:528:DC%2BC38XhtFGitrbP, PID: 22863195
-
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C (2012) A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 91:349–357. doi:10.1016/j.ajhg.2012.06.011.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 349-357
-
-
Semler, O.1
Garbes, L.2
Keupp, K.3
Swan, D.4
Zimmermann, K.5
Becker, J.6
Iden, S.7
Wirth, B.8
Eysel, P.9
Koerber, F.10
Schoenau, E.11
Bohlander, S.K.12
Wollnik, B.13
Netzer, C.14
-
75
-
-
2942689385
-
Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain
-
COI: 1:CAS:528:DC%2BD2cXksVahsbY%3D, PID: 15082835
-
Shen B, Vihinen M (2004) Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain. Protein Eng Des Sel 17:267–276. doi:10.1093/protein/gzh030.
-
(2004)
Protein Eng Des Sel
, vol.17
, pp. 267-276
-
-
Shen, B.1
Vihinen, M.2
-
76
-
-
77951902249
-
Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis
-
COI: 1:CAS:528:DC%2BC3cXkslKku70%3D, PID: 20377183
-
Shi J, Lua S, Tong JS, Song J (2010) Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis. Biochemistry 49:3887–3897. doi:10.1021/bi902057a.
-
(2010)
Biochemistry
, vol.49
, pp. 3887-3897
-
-
Shi, J.1
Lua, S.2
Tong, J.S.3
Song, J.4
-
77
-
-
84885173246
-
Exploring the structural insights on human laforin mutation K87A in Lafora disease—a molecular dynamics study
-
COI: 1:CAS:528:DC%2BC3sXht1ShsbjP, PID: 23904258
-
Srikumar PS, Rohini K (2013) Exploring the structural insights on human laforin mutation K87A in Lafora disease—a molecular dynamics study. Appl Biochem Biotechnol 171:874–882. doi:10.1007/s12010-013-0393-x.
-
(2013)
Appl Biochem Biotechnol
, vol.171
, pp. 874-882
-
-
Srikumar, P.S.1
Rohini, K.2
-
78
-
-
84885184466
-
Molecular mechanisms of disease-causing missense mutations
-
COI: 1:CAS:528:DC%2BC3sXht1GmtbfF, PID: 23871686
-
Stefl S, Nishi H, Petukh M, Panchenko AR, Alexov E (2013) Molecular mechanisms of disease-causing missense mutations. J Mol Biol 425:3919–3936. doi:10.1016/j.jmb.2013.07.014.
-
(2013)
J Mol Biol
, vol.425
, pp. 3919-3936
-
-
Stefl, S.1
Nishi, H.2
Petukh, M.3
Panchenko, A.R.4
Alexov, E.5
-
79
-
-
0042830297
-
Molecular basis of inherited diseases: a structural perspective
-
COI: 1:CAS:528:DC%2BD3sXmvVKlur0%3D, PID: 12957544
-
Steward RE, MacArthur MW, Laskowski RA, Thornton JM (2003) Molecular basis of inherited diseases: a structural perspective. Trends Genet 19:505–513. doi:10.1016/s0168-9525(03)00195-1.
-
(2003)
Trends Genet
, vol.19
, pp. 505-513
-
-
Steward, R.E.1
MacArthur, M.W.2
Laskowski, R.A.3
Thornton, J.M.4
-
80
-
-
84857206020
-
Experimental approaches to evaluate the contributions of candidate protein-coding mutations to phenotypic evolution
-
COI: 1:CAS:528:DC%2BC38XmsFeqtb0%3D, PID: 22065450
-
Storz JF, Zera AJ (2011) Experimental approaches to evaluate the contributions of candidate protein-coding mutations to phenotypic evolution. Methods Mol Biol 772:377–396. doi:10.1007/978-1-61779-228-1_22.
-
(2011)
Methods Mol Biol
, vol.772
, pp. 377-396
-
-
Storz, J.F.1
Zera, A.J.2
-
81
-
-
35448994352
-
Insulin gene mutations as a cause of permanent neonatal diabetes
-
PID: 17855560
-
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA 104:15040–15044. doi:10.1073/pnas.0707291104.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 15040-15044
-
-
Støy, J.1
Edghill, E.L.2
Flanagan, S.E.3
Ye, H.4
Paz, V.P.5
Pluzhnikov, A.6
Below, J.E.7
Hayes, M.G.8
Cox, N.J.9
Lipkind, G.M.10
Lipton, R.B.11
Greeley, S.A.12
Patch, A.M.13
Ellard, S.14
Steiner, D.F.15
Hattersley, A.T.16
Philipson, L.H.17
Bell, G.I.18
-
82
-
-
0032006595
-
Molecular basis of selective IgG2 deficiency. The mutated membrane-bound form of gamma2 heavy chain caused complete IGG2 deficiency in two Japanese siblings
-
COI: 1:CAS:528:DyaK1cXosVamsg%3D%3D, PID: 9449702
-
Tashita H, Fukao T, Kaneko H, Teramoto T, Inoue R, Kasahara K, Kondo N (1998) Molecular basis of selective IgG2 deficiency. The mutated membrane-bound form of gamma2 heavy chain caused complete IGG2 deficiency in two Japanese siblings. J Clin Invest 101:677–681. doi:10.1172/jci1672.
-
(1998)
J Clin Invest
, vol.101
, pp. 677-681
-
-
Tashita, H.1
Fukao, T.2
Kaneko, H.3
Teramoto, T.4
Inoue, R.5
Kasahara, K.6
Kondo, N.7
-
83
-
-
33750971454
-
Bioinformatic analysis of protein structure–function relationships: case study of leukocyte elastase (ELA2) missense mutations
-
COI: 1:CAS:528:DC%2BD28Xhtlans77P, PID: 16986121
-
Thusberg J, Vihinen M (2006) Bioinformatic analysis of protein structure–function relationships: case study of leukocyte elastase (ELA2) missense mutations. Hum Mutat 27:1230–1243. doi:10.1002/humu.20407.
-
(2006)
Hum Mutat
, vol.27
, pp. 1230-1243
-
-
Thusberg, J.1
Vihinen, M.2
-
84
-
-
65649108490
-
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods
-
COI: 1:CAS:528:DC%2BD1MXmtVymtrY%3D, PID: 19267389
-
Thusberg J, Vihinen M (2009) Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods. Hum Mutat 30:703–714. doi:10.1002/humu.20938.
-
(2009)
Hum Mutat
, vol.30
, pp. 703-714
-
-
Thusberg, J.1
Vihinen, M.2
-
85
-
-
79952764520
-
Performance of mutation pathogenicity prediction methods on missense variants
-
PID: 21412949
-
Thusberg J, Olatubosun A, Vihinen M (2011) Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32:358–368. doi:10.1002/humu.21445.
-
(2011)
Hum Mutat
, vol.32
, pp. 358-368
-
-
Thusberg, J.1
Olatubosun, A.2
Vihinen, M.3
-
86
-
-
80052370584
-
Lys98 substitution in human AP endonuclease 1 affects the kinetic mechanism of enzyme action in base excision and nucleotide incision repair pathways
-
COI: 1:CAS:528:DC%2BC3MXht1Wrtb%2FP, PID: 21912662
-
Timofeyeva NA, Koval VV, Ishchenko AA, Saparbaev MK, Fedorova OS (2011) Lys98 substitution in human AP endonuclease 1 affects the kinetic mechanism of enzyme action in base excision and nucleotide incision repair pathways. PLoS One 6:e24063. doi:10.1371/journal.pone.0024063.
-
(2011)
PLoS One
, vol.6
, pp. e24063
-
-
Timofeyeva, N.A.1
Koval, V.V.2
Ishchenko, A.A.3
Saparbaev, M.K.4
Fedorova, O.S.5
-
87
-
-
36248964819
-
The PASTA server for protein aggregation prediction
-
COI: 1:CAS:528:DC%2BD2sXhsVCmtr3I, PID: 17720750
-
Trovato A, Seno F, Tosatto SC (2007) The PASTA server for protein aggregation prediction. Protein Eng Des Sel 20:521–523. doi:10.1093/protein/gzm042.
-
(2007)
Protein Eng Des Sel
, vol.20
, pp. 521-523
-
-
Trovato, A.1
Seno, F.2
Tosatto, S.C.3
-
88
-
-
84884776927
-
A constitutively activating mutation alters the dynamics and energetics of a key conformational change in a ligand-free G protein-coupled receptor
-
COI: 1:CAS:528:DC%2BC3sXhsFemsL3M, PID: 23940032
-
Tsukamoto H, Farrens DL (2013) A constitutively activating mutation alters the dynamics and energetics of a key conformational change in a ligand-free G protein-coupled receptor. J Biol Chem 288:28207–28216. doi:10.1074/jbc.M113.472464.
-
(2013)
J Biol Chem
, vol.288
, pp. 28207-28216
-
-
Tsukamoto, H.1
Farrens, D.L.2
-
89
-
-
84865174263
-
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease
-
COI: 1:CAS:528:DC%2BC38XhtFOqtrvM, PID: 22573496
-
Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, Obata H, Yasumi T, Kong XF, Abhyankar A, Heike T, Nakahata T, Nishikomori R, Al-Muhsen S, Boisson-Dupuis S, Casanova JL, Alzahrani M, Shehri MA, Elghazali G, Takihara Y, Kobayashi M (2012) Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum Mutat 33:1377–1387. doi:10.1002/humu.22113.
-
(2012)
Hum Mutat
, vol.33
, pp. 1377-1387
-
-
Tsumura, M.1
Okada, S.2
Sakai, H.3
Yasunaga, S.4
Ohtsubo, M.5
Murata, T.6
Obata, H.7
Yasumi, T.8
Kong, X.F.9
Abhyankar, A.10
Heike, T.11
Nakahata, T.12
Nishikomori, R.13
Al-Muhsen, S.14
Boisson-Dupuis, S.15
Casanova, J.L.16
Alzahrani, M.17
Shehri, M.A.18
Elghazali, G.19
Takihara, Y.20
Kobayashi, M.21
more..
-
90
-
-
84880047467
-
DEF pocket in p38α facilitates substrate selectivity and mediates autophosphorylation
-
COI: 1:CAS:528:DC%2BC3sXhtVKms7%2FF, PID: 23671282
-
Tzarum N, Komornik N, Ben Chetrit D, Engelberg D, Livnah O (2013) DEF pocket in p38α facilitates substrate selectivity and mediates autophosphorylation. J Biol Chem 288:19537–19547. doi:10.1074/jbc.M113.464511.
-
(2013)
J Biol Chem
, vol.288
, pp. 19537-19547
-
-
Tzarum, N.1
Komornik, N.2
Ben Chetrit, D.3
Engelberg, D.4
Livnah, O.5
-
91
-
-
0023557882
-
Relationship of protein flexibility to thermostability
-
COI: 1:CAS:528:DyaL1cXhtVynsLc%3D, PID: 3508295
-
Vihinen M (1987) Relationship of protein flexibility to thermostability. Protein Eng 1:477–480.
-
(1987)
Protein Eng
, vol.1
, pp. 477-480
-
-
Vihinen, M.1
-
92
-
-
84893636595
-
Variation ontology for annotation of variation effects and mechanisms
-
COI: 1:CAS:528:DC%2BC2cXisVKjsr0%3D, PID: 24162187
-
Vihinen M (2014a) Variation ontology for annotation of variation effects and mechanisms. Genome Res 24:356–364. doi:10.1101/gr.157495.113.
-
(2014)
Genome Res
, vol.24
, pp. 356-364
-
-
Vihinen, M.1
-
93
-
-
84925504770
-
Variation ontology: annotator guide
-
Vihinen M (2014b) Variation ontology: annotator guide. J Biomed Semant 5:9. doi:10.1186/2041-1480-5-9.
-
(2014)
J Biomed Semant
, vol.5
, pp. 9
-
-
Vihinen, M.1
-
94
-
-
0028577730
-
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease
-
COI: 1:CAS:528:DyaK2MXivVCru7c%3D, PID: 7809124
-
Vihinen M, Vetrie D, Maniar HS, Ochs HD, Zhu Q, Vorechovsky I, Webster AD, Notarangelo LD, Nilsson L, Sowadski JM et al (1994) Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. Proc Natl Acad Sci USA 91:12803–12807.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 12803-12807
-
-
Vihinen, M.1
Vetrie, D.2
Maniar, H.S.3
Ochs, H.D.4
Zhu, Q.5
Vorechovsky, I.6
Webster, A.D.7
Notarangelo, L.D.8
Nilsson, L.9
Sowadski, J.M.10
-
95
-
-
1542577828
-
The amino-acid mutational spectrum of human genetic disease
-
PID: 14611658
-
Vitkup D, Sander C, Church GM (2003) The amino-acid mutational spectrum of human genetic disease. Genome Biol 4:R72. doi:10.1186/gb-2003-4-11-r72.
-
(2003)
Genome Biol
, vol.4
, pp. R72
-
-
Vitkup, D.1
Sander, C.2
Church, G.M.3
-
96
-
-
22844449795
-
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
-
COI: 1:CAS:528:DC%2BD2MXlslWhs74%3D, PID: 15924140
-
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL (2005) Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 37:692–700. doi:10.1038/ng1581.
-
(2005)
Nat Genet
, vol.37
, pp. 692-700
-
-
Vogt, G.1
Chapgier, A.2
Yang, K.3
Chuzhanova, N.4
Feinberg, J.5
Fieschi, C.6
Boisson-Dupuis, S.7
Alcais, A.8
Filipe-Santos, O.9
Bustamante, J.10
de Beaucoudrey, L.11
Al-Mohsen, I.12
Al-Hajjar, S.13
Al-Ghonaium, A.14
Adimi, P.15
Mirsaeidi, M.16
Khalilzadeh, S.17
Rosenzweig, S.18
de la Calle Martin, O.19
Bauer, T.R.20
Puck, J.M.21
Ochs, H.D.22
Furthner, D.23
Engelhorn, C.24
Belohradsky, B.25
Mansouri, D.26
Holland, S.M.27
Schreiber, R.D.28
Abel, L.29
Cooper, D.N.30
Soudais, C.31
Casanova, J.L.32
more..
-
97
-
-
0035065485
-
SNPs, protein structure, and disease
-
PID: 11295823
-
Wang Z, Moult J (2001) SNPs, protein structure, and disease. Hum Mutat 17:263–270. doi:10.1002/humu.22.
-
(2001)
Hum Mutat
, vol.17
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
98
-
-
82755189530
-
Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy
-
PID: 21873062
-
Weidemann W, Reinhardt A, Thate A, Horstkorte R (2011) Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy. Neuromuscul Disord 21:824–831. doi:10.1016/j.nmd.2011.06.004.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 824-831
-
-
Weidemann, W.1
Reinhardt, A.2
Thate, A.3
Horstkorte, R.4
-
99
-
-
62449145670
-
Centriole inheritance
-
PID: 19164929
-
Wilson PG (2008) Centriole inheritance. Prion 2:9–16.
-
(2008)
Prion
, vol.2
, pp. 9-16
-
-
Wilson, P.G.1
-
100
-
-
0036137007
-
A cavity-forming mutation in insulin induces segmental unfolding of a surrounding α-helix
-
COI: 1:CAS:528:DC%2BD38XltlOl, PID: 11742127
-
Xu B, Hua QX, Nakagawa SH, Jia W, Chu YC, Katsoyannis PG, Weiss MA (2002) A cavity-forming mutation in insulin induces segmental unfolding of a surrounding α-helix. Protein Sci 11:104–116. doi:10.1110/ps.32102.
-
(2002)
Protein Sci
, vol.11
, pp. 104-116
-
-
Xu, B.1
Hua, Q.X.2
Nakagawa, S.H.3
Jia, W.4
Chu, Y.C.5
Katsoyannis, P.G.6
Weiss, M.A.7
-
101
-
-
84870857654
-
The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin
-
COI: 1:CAS:528:DC%2BC38XhvV2jsL7M, PID: 23236454
-
Xu J, Wang S, Zhao WJ, Xi YB, Yan YB, Yao K (2012) The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin. PLoS One 7:e51200. doi:10.1371/journal.pone.0051200.
-
(2012)
PLoS One
, vol.7
, pp. e51200
-
-
Xu, J.1
Wang, S.2
Zhao, W.J.3
Xi, Y.B.4
Yan, Y.B.5
Yao, K.6
-
102
-
-
84888823769
-
Disease-associated single amino acid mutation in the calf-1 domain of integrin α3 leads to defects in its processing and cell surface expression
-
COI: 1:CAS:528:DC%2BC3sXhvVSlu77J, PID: 24220332
-
Yamada M, Sekiguchi K (2013) Disease-associated single amino acid mutation in the calf-1 domain of integrin α3 leads to defects in its processing and cell surface expression. Biochem Biophys Res Commun 441:988–993. doi:10.1016/j.bbrc.2013.11.003.
-
(2013)
Biochem Biophys Res Commun
, vol.441
, pp. 988-993
-
-
Yamada, M.1
Sekiguchi, K.2
-
103
-
-
84885190937
-
The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein–protein interactions
-
COI: 1:CAS:528:DC%2BC3sXht1aqtrbK, PID: 23867278
-
Yates CM, Sternberg MJ (2013) The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein–protein interactions. J Mol Biol 425:3949–3963. doi:10.1016/j.jmb.2013.07.012.
-
(2013)
J Mol Biol
, vol.425
, pp. 3949-3963
-
-
Yates, C.M.1
Sternberg, M.J.2
-
104
-
-
34249777526
-
Eris: an automated estimator of protein stability
-
COI: 1:CAS:528:DC%2BD2sXlvVykurg%3D, PID: 17538626
-
Yin S, Ding F, Dokholyan NV (2007) Eris: an automated estimator of protein stability. Nat Methods 4:466–467. doi:10.1038/nmeth0607-466.
-
(2007)
Nat Methods
, vol.4
, pp. 466-467
-
-
Yin, S.1
Ding, F.2
Dokholyan, N.V.3
-
105
-
-
84876273572
-
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations
-
COI: 1:CAS:528:DC%2BC3sXlvV2qsrg%3D, PID: 23457302
-
Yu ZH, Xu J, Walls CD, Chen L, Zhang S, Zhang R, Wu L, Wang L, Liu S, Zhang ZY (2013) Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. J Biol Chem 288:10472–10482. doi:10.1074/jbc.M113.450023.
-
(2013)
J Biol Chem
, vol.288
, pp. 10472-10482
-
-
Yu, Z.H.1
Xu, J.2
Walls, C.D.3
Chen, L.4
Zhang, S.5
Zhang, R.6
Wu, L.7
Wang, L.8
Liu, S.9
Zhang, Z.Y.10
-
106
-
-
84881233799
-
2+-dependent structural changes in the B-cell receptor CD23 increase its affinity for human immunoglobulin E
-
COI: 1:CAS:528:DC%2BC3sXhtFOgu7zK, PID: 23775083
-
2+-dependent structural changes in the B-cell receptor CD23 increase its affinity for human immunoglobulin E. J Biol Chem 288:21667–21677. doi:10.1074/jbc.M113.480657.
-
(2013)
J Biol Chem
, vol.288
, pp. 21667-21677
-
-
Yuan, D.1
Keeble, A.H.2
Hibbert, R.G.3
Fabiane, S.4
Gould, H.J.5
McDonnell, J.M.6
Beavil, A.J.7
Sutton, B.J.8
Dhaliwal, B.9
-
107
-
-
25144523127
-
Loss of protein structure stability as a major causative factor in monogenic disease
-
COI: 1:CAS:528:DC%2BD2MXhtVGrtrfL, PID: 16169011
-
Yue P, Li Z, Moult J (2005) Loss of protein structure stability as a major causative factor in monogenic disease. J Mol Biol 353:459–473. doi:10.1016/j.jmb.2005.08.020.
-
(2005)
J Mol Biol
, vol.353
, pp. 459-473
-
-
Yue, P.1
Li, Z.2
Moult, J.3
-
108
-
-
84861052952
-
Analyzing effects of naturally occurring missense mutations
-
PID: 22577471
-
Zhang Z, Miteva MA, Wang L, Alexov E (2012) Analyzing effects of naturally occurring missense mutations. Comput Math Methods Med 2012:805827. doi:10.1155/2012/805827.
-
(2012)
Comput Math Methods Med
, vol.2012
, pp. 805827
-
-
Zhang, Z.1
Miteva, M.A.2
Wang, L.3
Alexov, E.4
-
109
-
-
0028261105
-
Deletion within the Src homology domain 3 of Bruton’s tyrosine kinase resulting in X-linked agammaglobulinemia (XLA)
-
COI: 1:CAS:528:DyaK2cXltlaju7w%3D, PID: 7519238
-
Zhu Q, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, Kwan SP, Nilsson L, Smith CI, Witte ON, Chen SH, Ochs HD (1994) Deletion within the Src homology domain 3 of Bruton’s tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med 180:461–470.
-
(1994)
J Exp Med
, vol.180
, pp. 461-470
-
-
Zhu, Q.1
Zhang, M.2
Rawlings, D.J.3
Vihinen, M.4
Hagemann, T.5
Saffran, D.C.6
Kwan, S.P.7
Nilsson, L.8
Smith, C.I.9
Witte, O.N.10
Chen, S.H.11
Ochs, H.D.12
|