-
1
-
-
0036193520
-
Human gene mutations causing infertility
-
Layman LC (2002) Human gene mutations causing infertility. J Med Genet 39: 153-161.
-
(2002)
J Med Genet
, vol.39
, pp. 153-161
-
-
Layman, L.C.1
-
2
-
-
0141733248
-
Genetic causes of human infertility
-
Layman LC (2003) Genetic causes of human infertility. Endocrinol Metab Clin North Am 32: 549-572.
-
(2003)
Endocrinol Metab Clin North Am
, vol.32
, pp. 549-572
-
-
Layman, L.C.1
-
3
-
-
0038205494
-
Searching for candidate genes for male infertility
-
Truong BN, Moses EK, Armes JE, Venter DJ, Baker HW (2003) Searching for candidate genes for male infertility. Asian J Androl 5: 137-147.
-
(2003)
Asian J Androl
, vol.5
, pp. 137-147
-
-
Truong, B.N.1
Moses, E.K.2
Armes, J.E.3
Venter, D.J.4
Baker, H.W.5
-
4
-
-
1842526954
-
Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility
-
Ferlin A, Bettella A, Tessari A, Salata E, Dallapiccola B, et al. (2004) Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility. Fertil Steril 81: 1013-1018.
-
(2004)
Fertil Steril
, vol.81
, pp. 1013-1018
-
-
Ferlin, A.1
Bettella, A.2
Tessari, A.3
Salata, E.4
Dallapiccola, B.5
-
5
-
-
33751381790
-
Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility
-
Peterlin B, Zorn B, Volk M, Kunej T (2006) Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility. Molecular Human Reproduction 12: 777-779.
-
(2006)
Molecular Human Reproduction
, vol.12
, pp. 777-779
-
-
Peterlin, B.1
Zorn, B.2
Volk, M.3
Kunej, T.4
-
6
-
-
77957118485
-
Evaluation of prolactin receptor (PRLR) as candidate gene for male fertility in Hanoverian warmblood horses
-
Giesecke K, Hamann H, Sieme H, Distl O (2010) Evaluation of prolactin receptor (PRLR) as candidate gene for male fertility in Hanoverian warmblood horses. Reprod Domest Anim 45: e124-130.
-
(2010)
Reprod Domest Anim
, vol.45
, pp. e124-130
-
-
Giesecke, K.1
Hamann, H.2
Sieme, H.3
Distl, O.4
-
7
-
-
77952472877
-
INHBA-associated markers as candidates for stallion fertility
-
Giesecke K, Hamann H, Sieme H, Distl O (2010) INHBA-associated markers as candidates for stallion fertility. Reprod Domest Anim 45: 342-347.
-
(2010)
Reprod Domest Anim
, vol.45
, pp. 342-347
-
-
Giesecke, K.1
Hamann, H.2
Sieme, H.3
Distl, O.4
-
8
-
-
79961173343
-
Evaluation of ACE, SP17, and FSHB as candidates for stallion fertility in Hanoverian warmblood horses
-
Giesecke K, Hamann H, Stock KF, Klewitz J, Martinsson G, et al. (2011) Evaluation of ACE, SP17, and FSHB as candidates for stallion fertility in Hanoverian warmblood horses. Anim Reprod Sci 126: 200-206.
-
(2011)
Anim Reprod Sci
, vol.126
, pp. 200-206
-
-
Giesecke, K.1
Hamann, H.2
Stock, K.F.3
Klewitz, J.4
Martinsson, G.5
-
9
-
-
67849127128
-
Evaluation of SPATA1-associated markers for stallion fertility
-
Giesecke K, Hamann H, Stock KF, Wöhlke A, Sieme H, et al. (2009) Evaluation of SPATA1-associated markers for stallion fertility. Anim Genet 40: 359-365.
-
(2009)
Anim Genet
, vol.40
, pp. 359-365
-
-
Giesecke, K.1
Hamann, H.2
Stock, K.F.3
Wöhlke, A.4
Sieme, H.5
-
10
-
-
34249787312
-
A polymorphism within the equine CRISP3 gene is associated with stallion fertility in Hanoverian warmblood horses
-
Hamann H, Jude R, Sieme H, Mertens U, Töpfer-Petersen E, et al. (2007) A polymorphism within the equine CRISP3 gene is associated with stallion fertility in Hanoverian warmblood horses. Anim Genet 38: 259-264.
-
(2007)
Anim Genet
, vol.38
, pp. 259-264
-
-
Hamann, H.1
Jude, R.2
Sieme, H.3
Mertens, U.4
Töpfer-Petersen, E.5
-
11
-
-
84863111465
-
Genome-wide association study identifies candidate markers for bull fertility in Holstein dairy cattle
-
Penagaricano F, Weigel KA, Khatib H (2012) Genome-wide association study identifies candidate markers for bull fertility in Holstein dairy cattle. Anim Genet 43 Suppl 1: 65-71.
-
(2012)
Anim Genet
, vol.43
, pp. 65-71
-
-
Penagaricano, F.1
Weigel, K.A.2
Khatib, H.3
-
12
-
-
84864944631
-
Genomics and fertility in stallions
-
Sieme H, Distl O (2012) Genomics and Fertility in Stallions. JEVS 32: 467-470.
-
(2012)
JEVS
, vol.32
, pp. 467-470
-
-
Sieme, H.1
Distl, O.2
-
13
-
-
84862116032
-
Genome-wide association study identifies candidate genes for male fertility traits in humans
-
Kosova G, Scott NM, Niederberger C, Prins GS, Ober C (2012) Genome-wide association study identifies candidate genes for male fertility traits in humans. Am J Hum Genet 90: 950-961.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 950-961
-
-
Kosova, G.1
Scott, N.M.2
Niederberger, C.3
Prins, G.S.4
Ober, C.5
-
14
-
-
84872047005
-
Genomewide association study implicates testis-sperm specific FKBP6 as a susceptibility locus for impaired acrosome reaction in stallions
-
Raudsepp T, McCue ME, Das PJ, Dobson L, Vishnoi M, et al. (2012) Genomewide association study implicates testis-sperm specific FKBP6 as a susceptibility locus for impaired acrosome reaction in stallions. PLoS Genet 8: e1003139.
-
(2012)
PLoS Genet
, vol.8
, pp. e1003139
-
-
Raudsepp, T.1
McCue, M.E.2
Das, P.J.3
Dobson, L.4
Vishnoi, M.5
-
15
-
-
0029791403
-
Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information
-
Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, et al. (1996) Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 24: 3439-3452.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 3439-3452
-
-
Hebsgaard, S.M.1
Korning, P.G.2
Tolstrup, N.3
Engelbrecht, J.4
Rouze, P.5
-
16
-
-
66249120367
-
Human Splicing Finder: An online bioinformatics tool to predict splicing signals
-
Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, et al. (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Research 37.
-
(2009)
Nucleic Acids Research
, vol.37
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Beroud, G.4
Claustres, M.5
-
17
-
-
70349443589
-
Reduced amounts and abnormal forms of phospholipase C zeta (PLCzeta) in spermatozoa from infertile men
-
Heytens E, Parrington J, Coward K, Young C, Lambrecht S, et al. (2009) Reduced amounts and abnormal forms of phospholipase C zeta (PLCzeta) in spermatozoa from infertile men. Hum Reprod 24: 2417-2428.
-
(2009)
Hum Reprod
, vol.24
, pp. 2417-2428
-
-
Heytens, E.1
Parrington, J.2
Coward, K.3
Young, C.4
Lambrecht, S.5
-
18
-
-
84873203329
-
PLCzeta and the initiation of Ca(2+) oscillations in fertilizing mammalian eggs
-
Swann K, Lai FA (2013) PLCzeta and the initiation of Ca(2+) oscillations in fertilizing mammalian eggs. Cell Calcium 53: 55-62.
-
(2013)
Cell Calcium
, vol.53
, pp. 55-62
-
-
Swann, K.1
Lai, F.A.2
-
19
-
-
0035991081
-
Molecular cloning and characterization of the human orthologue of male germ cell-specific actin capping protein alpha3 (cpalpha3
-
Miyagawa Y, Tanaka H, Iguchi N, Kitamura K, Nakamura Y, et al. (2002) Molecular cloning and characterization of the human orthologue of male germ cell-specific actin capping protein alpha3 (cpalpha3). Mol Hum Reprod 8: 531-539.
-
(2002)
Mol Hum Reprod
, vol.8
, pp. 531-539
-
-
Miyagawa, Y.1
Tanaka, H.2
Iguchi, N.3
Kitamura, K.4
Nakamura, Y.5
-
20
-
-
34547114769
-
Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice
-
L'Hote D, Serres C, Laissue P, Oulmouden A, Rogel-Gaillard C, et al. (2007) Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice. Genetics 176: 1907-1921.
-
(2007)
Genetics
, vol.176
, pp. 1907-1921
-
-
L'hote, D.1
Serres, C.2
Laissue, P.3
Oulmouden, A.4
Rogel-Gaillard, C.5
-
21
-
-
67349109706
-
A missense mutation in the Capza3 gene and disruption of F-actin organization in spermatids of repro32 infertile male mice
-
Geyer CB, Inselman AL, Sunman JA, Bornstein S, Handel MA, et al. (2009) A missense mutation in the Capza3 gene and disruption of F-actin organization in spermatids of repro32 infertile male mice. Dev Biol 330: 142-152.
-
(2009)
Dev Biol
, vol.330
, pp. 142-152
-
-
Geyer, C.B.1
Inselman, A.L.2
Sunman, J.A.3
Bornstein, S.4
Handel, M.A.5
-
22
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
-
23
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
24
-
-
15344340688
-
Polymorphisms affecting gene regulation and mRNA processing: Broad implications for pharmacogenetics
-
Johnson AD, Wang D, Sadee W (2005) Polymorphisms affecting gene regulation and mRNA processing: broad implications for pharmacogenetics. Pharmacol Ther 106: 19-38.
-
(2005)
Pharmacol Ther
, vol.106
, pp. 19-38
-
-
Johnson, A.D.1
Wang, D.2
Sadee, W.3
-
25
-
-
24644466927
-
Single nucleotide polymorphism in transcriptional regulatory regions and expression of environmentally responsive genes
-
Wang X, Tomso DJ, Liu X, Bell DA (2005) Single nucleotide polymorphism in transcriptional regulatory regions and expression of environmentally responsive genes. Toxicol Appl Pharmacol 207: 84-90.
-
(2005)
Toxicol Appl Pharmacol
, vol.207
, pp. 84-90
-
-
Wang, X.1
Tomso, D.J.2
Liu, X.3
Bell, D.A.4
-
26
-
-
80053136837
-
Human sperm physiology: Estrogen receptor alpha (ERalpha) and estrogen receptor beta (ERbeta) influence sperm metabolism and may be involved in the pathophysiology of varicocele-associated male infertility
-
Guido C, Perrotta I, Panza S, Middea E, Avena P, et al. (2011) Human sperm physiology: estrogen receptor alpha (ERalpha) and estrogen receptor beta (ERbeta) influence sperm metabolism and may be involved in the pathophysiology of varicocele-associated male infertility. J Cell Physiol 226: 3403-3412.
-
(2011)
J Cell Physiol
, vol.226
, pp. 3403-3412
-
-
Guido, C.1
Perrotta, I.2
Panza, S.3
Middea, E.4
Avena, P.5
-
27
-
-
0034457552
-
Estradiol acts as a germ cell survival factor in the human testis in vitro
-
Pentikainen V, Erkkila K, Suomalainen L, Parvinen M, Dunkel L (2000) Estradiol acts as a germ cell survival factor in the human testis in vitro. Journal of Clinical Endocrinology & Metabolism 85: 2057-2067.
-
(2000)
Journal of Clinical Endocrinology & Metabolism
, vol.85
, pp. 2057-2067
-
-
Pentikainen, V.1
Erkkila, K.2
Suomalainen, L.3
Parvinen, M.4
Dunkel, L.5
-
28
-
-
0036677538
-
PLC zeta: A sperm-specific trigger of Ca(2+) oscillations in eggs and embryo development
-
Saunders CM, Larman MG, Parrington J, Cox LJ, Royse J, et al. (2002) PLC zeta: a sperm-specific trigger of Ca(2+) oscillations in eggs and embryo development. Development 129: 3533-3544.
-
(2002)
Development
, vol.129
, pp. 3533-3544
-
-
Saunders, C.M.1
Larman, M.G.2
Parrington, J.3
Cox, L.J.4
Royse, J.5
-
29
-
-
34547095244
-
PLCzeta, a sperm-specific PLC and its potential role in fertilization
-
Saunders CM, Swann K, Lai FA (2007) PLCzeta, a sperm-specific PLC and its potential role in fertilization. Biochem Soc Symp 74: 23-36.
-
(2007)
Biochem Soc Symp
, vol.74
, pp. 23-36
-
-
Saunders, C.M.1
Swann, K.2
Lai, F.A.3
-
30
-
-
33745909900
-
PLC xi (zeta): A sperm protein that triggers Ca(2+) oscillations and egg activation in mammals
-
Swann K, Saunders CM, Rogers NT, Lai FA (2006) PLC xi (zeta): A sperm protein that triggers Ca(2+) oscillations and egg activation in mammals. Semin Cell Dev Biol 17: 264-273.
-
(2006)
Semin Cell Dev Biol
, vol.17
, pp. 264-273
-
-
Swann, K.1
Saunders, C.M.2
Rogers, N.T.3
Lai, F.A.4
-
32
-
-
23844457941
-
Phospholipase Czeta, the trigger of egg activation in mammals, is present in a non-mammalian species
-
Coward K, Ponting CP, Chang HY, Hibbitt O, Savolainen P, et al. (2005) Phospholipase Czeta, the trigger of egg activation in mammals, is present in a non-mammalian species. Reproduction 130: 157-163.
-
(2005)
Reproduction
, vol.130
, pp. 157-163
-
-
Coward, K.1
Ponting, C.P.2
Chang, H.Y.3
Hibbitt, O.4
Savolainen, P.5
-
33
-
-
33749507370
-
Molecular cloning, testicular postnatal expression, and oocyte-activating potential of porcine phospholipase Czeta
-
Yoneda A, Kashima M, Yoshida S, Terada K, Nakagawa S, et al. (2006) Molecular cloning, testicular postnatal expression, and oocyte-activating potential of porcine phospholipase Czeta. Reproduction 132: 393-401.
-
(2006)
Reproduction
, vol.132
, pp. 393-401
-
-
Yoneda, A.1
Kashima, M.2
Yoshida, S.3
Terada, K.4
Nakagawa, S.5
-
34
-
-
44349150442
-
2+ oscillation-inducing activity and nuclear translocation ability of PLCZ1, an egg-activating sperm factor candidate, between mouse, rat, human, and medaka fish
-
2+ oscillation-inducing activity and nuclear translocation ability of PLCZ1, an egg-activating sperm factor candidate, between mouse, rat, human, and medaka fish. Biol Reprod 78: 1081-1090.
-
(2008)
Biol Reprod
, vol.78
, pp. 1081-1090
-
-
Ito, M.1
Shikano, T.2
Oda, S.3
Horiguchi, T.4
Tanimoto, S.5
-
35
-
-
79960125003
-
Molecular cloning and characterization of phospholipase C zeta in equine sperm and testis reveals species-specific differences in expression of catalytically active protein
-
Bedford-Guaus SJ, McPartlin LA, Xie J, Westmiller SL, Buffone MG, et al. (2011) Molecular cloning and characterization of phospholipase C zeta in equine sperm and testis reveals species-specific differences in expression of catalytically active protein. Biol Reprod 85: 78-88.
-
(2011)
Biol Reprod
, vol.85
, pp. 78-88
-
-
Bedford-Guaus, S.J.1
McPartlin, L.A.2
Xie, J.3
Westmiller, S.L.4
Buffone, M.G.5
-
36
-
-
1242343787
-
Mammalian fertilization: From sperm factor to phospholipase Czeta
-
Kurokawa M, Sato K, Fissore RA (2004) Mammalian fertilization: from sperm factor to phospholipase Czeta. Biol Cell 96: 37-45.
-
(2004)
Biol Cell
, vol.96
, pp. 37-45
-
-
Kurokawa, M.1
Sato, K.2
Fissore, R.A.3
-
38
-
-
84855808340
-
2+ signal that induces egg activation and embryo development
-
2+ signal that induces egg activation and embryo development. BioEssays 34: 126-134.
-
(2012)
BioEssays
, vol.34
, pp. 126-134
-
-
Nomikos, M.1
Swann, K.2
Lai, F.A.3
-
39
-
-
84871920566
-
Phospholipase Czeta rescues failed oocyte activation in a prototype of male factor infertility
-
Nomikos M, Yu Y, Elgmati K, Theodoridou M, Campbell K, et al. (2013) Phospholipase Czeta rescues failed oocyte activation in a prototype of male factor infertility. Fertil Steril 99: 76-85.
-
(2013)
Fertil Steril
, vol.99
, pp. 76-85
-
-
Nomikos, M.1
Yu, Y.2
Elgmati, K.3
Theodoridou, M.4
Campbell, K.5
-
40
-
-
81055146957
-
Loss of activity mutations in phospholipase C zeta (PLCzeta) abolishes calcium oscillatory ability of human recombinant protein in mouse oocytes
-
Kashir J, Jones C, Lee HC, Rietdorf K, Nikiforaki D, et al. (2011) Loss of activity mutations in phospholipase C zeta (PLCzeta) abolishes calcium oscillatory ability of human recombinant protein in mouse oocytes. Hum Reprod 26: 3372-3387.
-
(2011)
Hum Reprod
, vol.26
, pp. 3372-3387
-
-
Kashir, J.1
Jones, C.2
Lee, H.C.3
Rietdorf, K.4
Nikiforaki, D.5
-
41
-
-
84864469957
-
Characterization of two heterozygous mutations of the oocyte activation factor phospholipase C zeta (PLCzeta) from an infertile man by use of minisequencing of individual sperm and expression in somatic cells
-
Kashir J, Konstantinidis M, Jones C, Heindryckx B, De Sutter P, et al. (2012) Characterization of two heterozygous mutations of the oocyte activation factor phospholipase C zeta (PLCzeta) from an infertile man by use of minisequencing of individual sperm and expression in somatic cells. Fertil Steril 98: 423-431.
-
(2012)
Fertil Steril
, vol.98
, pp. 423-431
-
-
Kashir, J.1
Konstantinidis, M.2
Jones, C.3
Heindryckx, B.4
De Sutter, P.5
-
42
-
-
83755205789
-
A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCzeta) leads to male infertility
-
Kashir J, Konstantinidis M, Jones C, Lemmon B, Lee HC, et al. (2012) A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCzeta) leads to male infertility. Hum Reprod 27: 222-231.
-
(2012)
Hum Reprod
, vol.27
, pp. 222-231
-
-
Kashir, J.1
Konstantinidis, M.2
Jones, C.3
Lemmon, B.4
Lee, H.C.5
-
43
-
-
84876702388
-
Molecular characteristics of horse phospholipase C zeta (PLCzeta)
-
Sato K, Wakai T, Seita Y, Takizawa A, Fissore RA, et al. (2013) Molecular characteristics of horse phospholipase C zeta (PLCzeta). Anim Sci J 84: 359-368.
-
(2013)
Anim Sci J
, vol.84
, pp. 359-368
-
-
Sato, K.1
Wakai, T.2
Seita, Y.3
Takizawa, A.4
Fissore, R.A.5
-
44
-
-
33748767655
-
2+ oscillation-inducing activities of phospholipase Czeta, a mammalian eggactivating factor
-
2+ oscillation-inducing activities of phospholipase Czeta, a mammalian eggactivating factor. J Biol Chem 281: 27794-27805.
-
(2006)
J Biol Chem
, vol.281
, pp. 27794-27805
-
-
Kuroda, K.1
Ito, M.2
Shikano, T.3
Awaji, T.4
Yoda, A.5
-
45
-
-
84864939269
-
Characterization of equine phospholipase C Zeta: A review and preliminary results on expression defects in subfertile stallions
-
Bedford-Guaus SJ, McPartlin LA, Varner DD (2012) Characterization of Equine Phospholipase C Zeta: A Review and Preliminary Results on Expression Defects in Subfertile Stallions. JEVS 32: 445-450.
-
(2012)
JEVS
, vol.32
, pp. 445-450
-
-
Bedford-Guaus, S.J.1
McPartlin, L.A.2
Varner, D.D.3
-
46
-
-
45649084237
-
PLCz: A marker of fertility for stallions?
-
Gradil C, Yoon S-Y, Brown J, He C, Visconti P, et al. (2006) PLCz: A marker of fertility for stallions? Anim Reprod Sci 94: 23-25.
-
(2006)
Anim Reprod Sci
, vol.94
, pp. 23-25
-
-
Gradil, C.1
Yoon, S.-Y.2
Brown, J.3
He, C.4
Visconti, P.5
-
47
-
-
84858440846
-
Investigation into association and expression of PLCz and COX-2 as candidate genes for boar sperm quality and fertility
-
Kaewmala K, Uddin MJ, Cinar MU, Grosse-Brinkhaus C, Jonas E, et al. (2012) Investigation into association and expression of PLCz and COX-2 as candidate genes for boar sperm quality and fertility. Reprod Domest Anim 47: 213-223.
-
(2012)
Reprod Domest Anim
, vol.47
, pp. 213-223
-
-
Kaewmala, K.1
Uddin, M.J.2
Cinar, M.U.3
Grosse-Brinkhaus, C.4
Jonas, E.5
-
48
-
-
84868214220
-
Association between mRNA abundance of functional sperm function proteins and fertility of Holstein bulls
-
e2002
-
Kasimanickam V, Kasimanickam R, Arangasamy A, Saberivand A, Stevenson JS, et al. (2012) Association between mRNA abundance of functional sperm function proteins and fertility of Holstein bulls. Theriogenology 78: 2007-2019 e2002.
-
(2012)
Theriogenology
, vol.78
, pp. 2007-2019
-
-
Kasimanickam, V.1
Kasimanickam, R.2
Arangasamy, A.3
Saberivand, A.4
Stevenson, J.S.5
-
49
-
-
84875038715
-
PLCz functional haplotypes modulating promoter transcriptional activity are associated with semen quality traits in chinese holstein bulls
-
Pan Q, Ju Z, Huang J, Zhang Y, Qi C, et al. (2013) PLCz Functional Haplotypes Modulating Promoter Transcriptional Activity Are Associated with Semen Quality Traits in Chinese Holstein Bulls. PLoS ONE 8: e58795.
-
(2013)
PLoS ONE
, vol.8
, pp. e58795
-
-
Pan, Q.1
Ju, Z.2
Huang, J.3
Zhang, Y.4
Qi, C.5
-
50
-
-
0035691667
-
Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins
-
Zhu J, Mayeda A, Krainer AR (2001) Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins. Mol Cell 8: 1351-1361.
-
(2001)
Mol Cell
, vol.8
, pp. 1351-1361
-
-
Zhu, J.1
Mayeda, A.2
Krainer, A.R.3
-
51
-
-
24944433166
-
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes
-
Wang J, Smith PJ, Krainer AR, Zhang MQ (2005) Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Nucleic Acids Res 33: 5053-5062.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 5053-5062
-
-
Wang, J.1
Smith, P.J.2
Krainer, A.R.3
Zhang, M.Q.4
-
52
-
-
80051562607
-
Quantitative evaluation of all hexamers as exonic splicing elements
-
Ke S, Shang S, Kalachikov SM, Morozova I, Yu L, et al. (2011) Quantitative evaluation of all hexamers as exonic splicing elements. Genome Res 21: 1360-1374.
-
(2011)
Genome Res
, vol.21
, pp. 1360-1374
-
-
Ke, S.1
Shang, S.2
Kalachikov, S.M.3
Morozova, I.4
Yu, L.5
-
53
-
-
33745501015
-
General and specific functions of exonic splicing silencers in splicing control
-
Wang Z, Xiao X, Van Nostrand E, Burge CB (2006) General and specific functions of exonic splicing silencers in splicing control. Mol Cell 23: 61-70.
-
(2006)
Mol Cell
, vol.23
, pp. 61-70
-
-
Wang, Z.1
Xiao, X.2
Van Nostrand, E.3
Burge, C.B.4
-
54
-
-
77950450545
-
The deep intronic c.903+469T.C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
-
Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, et al. (2010) The deep intronic c.903+469T.C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. Hum Mutat 31: 437-444.
-
(2010)
Hum Mutat
, vol.31
, pp. 437-444
-
-
Homolova, K.1
Zavadakova, P.2
Doktor, T.K.3
Schroeder, L.D.4
Kozich, V.5
-
55
-
-
84893095274
-
Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions
-
Walenkamp MJ, Klammt J, Feigerlova E, Losekoot M, van Duyvenvoorde HA, et al. (2013) Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions. Horm Res Paediatr 80: 406-412.
-
(2013)
Horm Res Paediatr
, vol.80
, pp. 406-412
-
-
Walenkamp, M.J.1
Klammt, J.2
Feigerlova, E.3
Losekoot, M.4
Van Duyvenvoorde, H.A.5
-
56
-
-
84884530578
-
In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs
-
Blazquez L, Aiastui A, Goicoechea M, Martins de Araujo M, Avril A, et al. (2013) In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs. Hum Mutat 34: 1387-1395.
-
(2013)
Hum Mutat
, vol.34
, pp. 1387-1395
-
-
Blazquez, L.1
Aiastui, A.2
Goicoechea, M.3
Martins De Araujo, M.4
Avril, A.5
-
58
-
-
36148958682
-
MicroRNAs in cell proliferation, cell death, and tumorigenesis
-
Hwang HW, Mendell JT (2007) MicroRNAs in cell proliferation, cell death, and tumorigenesis. Br J Cancer 96 Suppl: R40-44.
-
(2007)
Br J Cancer
, vol.96
, pp. R40-44
-
-
Hwang, H.W.1
Mendell, J.T.2
-
59
-
-
84885912890
-
MicroRNAs in the onset and development of cardiovascular disease
-
Vickers KC, Rye KA, Tabet F (2014) MicroRNAs in the onset and development of cardiovascular disease. Clin Sci (Lond) 126: 183-194.
-
(2014)
Clin Sci (Lond)
, vol.126
, pp. 183-194
-
-
Vickers, K.C.1
Rye, K.A.2
Tabet, F.3
-
60
-
-
84896353799
-
MicroRNA-34a: Role in cancer and cardiovascular disease
-
Chen X, Zhou JY, Zhou JY (2014) MicroRNA-34a: Role in cancer and cardiovascular disease. Curr Drug Targets 15: 361-373.
-
(2014)
Curr Drug Targets
, vol.15
, pp. 361-373
-
-
Chen, X.1
Zhou, J.Y.2
Zhou, J.Y.3
-
61
-
-
84891539773
-
New roles for ''old'' microRNAs in nervous system function and disease
-
Hartl M, Grunwald Kadow IC (2013) New roles for ''old'' microRNAs in nervous system function and disease. Front Mol Neurosci 6: 51.
-
(2013)
Front Mol Neurosci
, vol.6
, pp. 51
-
-
Hartl, M.1
Grunwald Kadow, I.C.2
-
63
-
-
77955644289
-
Mammalian microRNAs predominantly act to decrease target mRNA levels
-
Guo H, Ingolia NT, Weissman JS, Bartel DP (2010) Mammalian microRNAs predominantly act to decrease target mRNA levels. Nature 466: 835-840.
-
(2010)
Nature
, vol.466
, pp. 835-840
-
-
Guo, H.1
Ingolia, N.T.2
Weissman, J.S.3
Bartel, D.P.4
-
64
-
-
84866399102
-
Characterization and importance of microRNAs in mammalian gonadal functions
-
Hossain MM, Sohel MM, Schellander K, Tesfaye D (2012) Characterization and importance of microRNAs in mammalian gonadal functions. Cell Tissue Res 349: 679-690.
-
(2012)
Cell Tissue Res
, vol.349
, pp. 679-690
-
-
Hossain, M.M.1
Sohel, M.M.2
Schellander, K.3
Tesfaye, D.4
-
65
-
-
84891557087
-
MicroRNA expression profiles in human testicular tissues of infertile men with different histopathologic patterns
-
e72
-
Abu-Halima M, Backes C, Leidinger P, Keller A, Lubbad AM, et al. (2014) MicroRNA expression profiles in human testicular tissues of infertile men with different histopathologic patterns. Fertil Steril 101: 78-86 e72.
-
(2014)
Fertil Steril
, vol.101
, pp. 78-86
-
-
Abu-Halima, M.1
Backes, C.2
Leidinger, P.3
Keller, A.4
Lubbad, A.M.5
-
66
-
-
84886947761
-
Genomewide in silico screening for microRNA genetic variability in livestock species
-
Jevsinek Skok D, Godnic I, Zorc M, Horvat S, Dovc P, et al. (2013) Genomewide in silico screening for microRNA genetic variability in livestock species. Anim Genet 44: 669-677.
-
(2013)
Anim Genet
, vol.44
, pp. 669-677
-
-
Jevsinek Skok, D.1
Godnic, I.2
Zorc, M.3
Horvat, S.4
Dovc, P.5
-
67
-
-
0034674564
-
Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta
-
Wang JC, Waltner-Law M, Yamada K, Osawa H, Stifani S, et al. (2000) Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta. J Biol Chem 275: 18418-18423.
-
(2000)
J Biol Chem
, vol.275
, pp. 18418-18423
-
-
Wang, J.C.1
Waltner-Law, M.2
Yamada, K.3
Osawa, H.4
Stifani, S.5
-
68
-
-
0032104190
-
A rule for termination-codon position within introncontaining genes: When nonsense affects RNA abundance
-
Nagy E, Maquat LE (1998) A rule for termination-codon position within introncontaining genes: when nonsense affects RNA abundance. Trends Biochem Sci 23: 198-199.
-
(1998)
Trends Biochem Sci
, vol.23
, pp. 198-199
-
-
Nagy, E.1
Maquat, L.E.2
-
69
-
-
0037422575
-
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
-
Lewis BP, Green RE, Brenner SE (2003) Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci USA 100: 189-192.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 189-192
-
-
Lewis, B.P.1
Green, R.E.2
Brenner, S.E.3
-
70
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer PA, Dietz HC (1999) Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8: 1893-1900.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
71
-
-
0033525169
-
A perfect message: RNA surveillance and nonsense-mediated decay
-
Hentze MW, Kulozik AE (1999) A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96: 307-310.
-
(1999)
Cell
, vol.96
, pp. 307-310
-
-
Hentze, M.W.1
Kulozik, A.E.2
-
72
-
-
0033375911
-
Mechanisms of mRNA surveillance in eukaryotes
-
Hilleren P, Parker R (1999) Mechanisms of mRNA surveillance in eukaryotes. Annu Rev Genet 33: 229-260.
-
(1999)
Annu Rev Genet
, vol.33
, pp. 229-260
-
-
Hilleren, P.1
Parker, R.2
-
73
-
-
0037708992
-
Post-transcriptional control of gene expression: Effectors of mRNA decay
-
Arraiano CM, Maquat LE (2003) Post-transcriptional control of gene expression: effectors of mRNA decay. Mol Microbiol 49: 267-276.
-
(2003)
Mol Microbiol
, vol.49
, pp. 267-276
-
-
Arraiano, C.M.1
Maquat, L.E.2
-
74
-
-
77949904260
-
Nonsense-mediated mRNA decay in human cells: Mechanistic insights, functions beyond quality control and the double-life of NMD factors
-
Nicholson P, Yepiskoposyan H, Metze S, Zamudio Orozco R, Kleinschmidt N, et al. (2010) Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors. Cell Mol Life Sci 67: 677-700.
-
(2010)
Cell Mol Life Sci
, vol.67
, pp. 677-700
-
-
Nicholson, P.1
Yepiskoposyan, H.2
Metze, S.3
Zamudio Orozco, R.4
Kleinschmidt, N.5
-
75
-
-
42449124624
-
The coupling of alternative splicing and nonsense-mediated mRNA decay
-
Lareau LF, Brooks AN, Soergel DA, Meng Q, Brenner SE (2007) The coupling of alternative splicing and nonsense-mediated mRNA decay. Adv Exp Med Biol 623: 190-211.
-
(2007)
Adv Exp Med Biol
, vol.623
, pp. 190-211
-
-
Lareau, L.F.1
Brooks, A.N.2
Soergel, D.A.3
Meng, Q.4
Brenner, S.E.5
-
76
-
-
84860200746
-
The intronic GABRG2 mutation, IVS6+2T-. G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated gamma2 subunit
-
Tian M, Macdonald RL (2012) The intronic GABRG2 mutation, IVS6+2T-. G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated gamma2 subunit. J Neurosci 32: 5937-5952.
-
(2012)
J Neurosci
, vol.32
, pp. 5937-5952
-
-
Tian, M.1
Macdonald, R.L.2
-
77
-
-
0036318060
-
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions
-
Kananura C, Haug K, Sander T, Runge U, Gu W, et al. (2002) A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol 59: 1137-1141.
-
(2002)
Arch Neurol
, vol.59
, pp. 1137-1141
-
-
Kananura, C.1
Haug, K.2
Sander, T.3
Runge, U.4
Gu, W.5
-
78
-
-
77953722701
-
HnRNP H1 and intronic G runs in the splicing control of the human rpL3 gene
-
Russo A, Siciliano G, Catillo M, Giangrande C, Amoresano A, et al. (2010) hnRNP H1 and intronic G runs in the splicing control of the human rpL3 gene. Biochim Biophys Acta 1799: 419-428.
-
(2010)
Biochim Biophys Acta
, vol.1799
, pp. 419-428
-
-
Russo, A.1
Siciliano, G.2
Catillo, M.3
Giangrande, C.4
Amoresano, A.5
-
79
-
-
46049107404
-
Alternative translation start sites and hidden coding potential of eukaryotic mRNAs
-
Kochetov AV (2008) Alternative translation start sites and hidden coding potential of eukaryotic mRNAs. Bioessays 30: 683-691.
-
(2008)
Bioessays
, vol.30
, pp. 683-691
-
-
Kochetov, A.V.1
-
80
-
-
84894265305
-
Cellular mRNAs access second ORFs using a novel amino acid sequence-dependent coupled translation termination-reinitiation mechanism
-
Gould PS, Dyer NP, Croft W, Ott S, Easton AJ (2014) Cellular mRNAs access second ORFs using a novel amino acid sequence-dependent coupled translation termination-reinitiation mechanism. RNA 20: 373-381.
-
(2014)
RNA
, vol.20
, pp. 373-381
-
-
Gould, P.S.1
Dyer, N.P.2
Croft, W.3
Ott, S.4
Easton, A.J.5
-
81
-
-
0037121050
-
Pushing the limits of the scanning mechanism for initiation of translation
-
Kozak M (2002) Pushing the limits of the scanning mechanism for initiation of translation. Gene 299: 1-34.
-
(2002)
Gene
, vol.299
, pp. 1-34
-
-
Kozak, M.1
-
82
-
-
27144555357
-
Regulation of translation via mRNA structure in prokaryotes and eukaryotes
-
Kozak M (2005) Regulation of translation via mRNA structure in prokaryotes and eukaryotes. Gene 361: 13-37.
-
(2005)
Gene
, vol.361
, pp. 13-37
-
-
Kozak, M.1
-
83
-
-
33644640941
-
Genetic analysis of the fertility in Hanoverian Warmblood horses
-
Hamann H, Sieme H, Distl O (2005) Genetic analysis of the fertility in Hanoverian Warmblood horses. Anim Reprod Sci 89: 201-203.
-
(2005)
Anim Reprod Sci
, vol.89
, pp. 201-203
-
-
Hamann, H.1
Sieme, H.2
Distl, O.3
-
84
-
-
84891818318
-
MiRBase: Annotating high confidence microRNAs using deep sequencing data
-
Kozomara A, Griffiths-Jones S (2014) miRBase: annotating high confidence microRNAs using deep sequencing data. Nucleic Acids Res 42: D68-73.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D68-73
-
-
Kozomara, A.1
Griffiths-Jones, S.2
-
85
-
-
78651293534
-
MiRBase: Integrating microRNA annotation and deep-sequencing data
-
Kozomara A, Griffiths-Jones S (2011) miRBase: integrating microRNA annotation and deep-sequencing data. Nucleic Acids Res 39: D152-157.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. D152-157
-
-
Kozomara, A.1
Griffiths-Jones, S.2
-
86
-
-
43149106728
-
Establishment of a new mismatch PCRRFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India
-
Quadros L, Ghosh K, Shetty S (2008) Establishment of a new mismatch PCRRFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India. Haemophilia 14: 628-629.
-
(2008)
Haemophilia
, vol.14
, pp. 628-629
-
-
Quadros, L.1
Ghosh, K.2
Shetty, S.3
-
87
-
-
62649155943
-
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
-
Browning BL, Browning SR (2009) A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet 84: 210-223.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 210-223
-
-
Browning, B.L.1
Browning, S.R.2
-
88
-
-
35348817330
-
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
-
Browning SR, Browning BL (2007) Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet 81: 1084-1097.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1084-1097
-
-
Browning, S.R.1
Browning, B.L.2
|