-
1
-
-
0035033979
-
Cholestatic syndromes of infancy and childhood
-
doi:11352121
-
Bezerra JA, Balistreri WF, (2001) Cholestatic syndromes of infancy and childhood. Semin Gastrointest Dis 12: 54-65. PubMed: 11352121.
-
(2001)
Semin Gastrointest Dis
, vol.12
, pp. 54-65
-
-
Bezerra, J.A.1
Balistreri, W.F.2
-
2
-
-
77950864105
-
Cholestatic liver disease in children
-
doi:10.1007/s11894-009-0081-8
-
Santos JL, Choquette M, Bezerra JA, (2010) Cholestatic liver disease in children. Curr Gastroenterol Rep 12: 30-39. doi:10.1007/s11894-009-0081-8. PubMed: 20425482.
-
(2010)
Curr Gastroenterol Rep
, vol.12
, pp. 30-39
-
-
Santos, J.L.1
Choquette, M.2
Bezerra, J.A.3
-
3
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
doi:10.1038/ng0797-243
-
Li L, Krantz ID, Deng Y, Genin A, Banta AB, et al. (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16: 243-251. doi:10.1038/ng0797-243. PubMed: 9207788.
-
(1997)
Nat Genet
, vol.16
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
Genin, A.4
Banta, A.B.5
-
4
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
doi:10.1038/ng0797-235
-
Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, et al. (1997) Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16: 235-242. doi:10.1038/ng0797-235. PubMed: 9207787.
-
(1997)
Nat Genet
, vol.16
, pp. 235-242
-
-
Oda, T.1
Elkahloun, A.G.2
Pike, B.L.3
Okajima, K.4
Krantz, I.D.5
-
5
-
-
0033911125
-
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype
-
doi:10.1086/302993
-
Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, et al. (2000) Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet 67: 222-228. doi:10.1086/302993. PubMed: 10820129.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 222-228
-
-
Bétard, C.1
Rasquin-Weber, A.2
Brewer, C.3
Drouin, E.4
Clark, S.5
-
6
-
-
0033809652
-
North American Indian cirrhosis in children: a review of 30 cases
-
doi:10.1097/00005176-200010000-00013
-
Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A, (2000) North American Indian cirrhosis in children: a review of 30 cases. J Pediatr Gastroenterol Nutr 31: 395-404. doi:10.1097/00005176-200010000-00013. PubMed: 11045837.
-
(2000)
J Pediatr Gastroenterol Nutr
, vol.31
, pp. 395-404
-
-
Drouin, E.1
Russo, P.2
Tuchweber, B.3
Mitchell, G.4
Rasquin-Weber, A.5
-
7
-
-
0036918537
-
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
-
doi:10.1086/344580
-
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, et al. (2002) A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet 71: 1443-1449. doi:10.1086/344580. PubMed: 12417987.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1443-1449
-
-
Chagnon, P.1
Michaud, J.2
Mitchell, G.3
Mercier, J.4
Marion, J.F.5
-
8
-
-
27744436483
-
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis
-
doi:10.1016/j.yexcr.2005.08.012
-
Yu B, Mitchell GA, Richter A, (2005) Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. Exp Cell Res 311: 218-228. doi:10.1016/j.yexcr.2005.08.012. PubMed: 16225863.
-
(2005)
Exp Cell Res
, vol.311
, pp. 218-228
-
-
Yu, B.1
Mitchell, G.A.2
Richter, A.3
-
9
-
-
0037182878
-
A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis
-
doi:10.1038/nature00769
-
Dragon F, Gallagher JE, Compagnone-Post PA, Mitchell BM, Porwancher KA, et al. (2002) A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis. Nature 417: 967-970. doi:10.1038/nature00769. PubMed: 12068309.
-
(2002)
Nature
, vol.417
, pp. 967-970
-
-
Dragon, F.1
Gallagher, J.E.2
Compagnone-Post, P.A.3
Mitchell, B.M.4
Porwancher, K.A.5
-
10
-
-
77955813132
-
The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis
-
doi:10.1093/nar/gkq185
-
Freed EF, Baserga SJ, (2010) The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. Nucleic Acids Res 38: 4798-4806. doi:10.1093/nar/gkq185. PubMed: 20385600.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 4798-4806
-
-
Freed, E.F.1
Baserga, S.J.2
-
11
-
-
16544382021
-
RNA polymerase I transcription and pre-rRNA processing are linked by specific SSU processome components
-
doi:10.1101/gad.1226604
-
Gallagher JE, Dunbar DA, Granneman S, Mitchell BM, Osheim Y, et al. (2004) RNA polymerase I transcription and pre-rRNA processing are linked by specific SSU processome components. Genes Dev 18: 2506-2517. doi:10.1101/gad.1226604. PubMed: 15489292.
-
(2004)
Genes Dev
, vol.18
, pp. 2506-2517
-
-
Gallagher, J.E.1
Dunbar, D.A.2
Granneman, S.3
Mitchell, B.M.4
Osheim, Y.5
-
12
-
-
70349786366
-
Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1
-
doi:10.1016/j.yexcr.2009.08.017
-
Yu B, Mitchell GA, Richter A, (2009) Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. Exp Cell Res 315: 3086-3098. doi:10.1016/j.yexcr.2009.08.017. PubMed: 19732766.
-
(2009)
Exp Cell Res
, vol.315
, pp. 3086-3098
-
-
Yu, B.1
Mitchell, G.A.2
Richter, A.3
-
13
-
-
77249178175
-
When ribosomes go bad: diseases of ribosome biogenesis
-
doi:10.1039/b919670f
-
Freed EF, Bleichert F, Dutca LM, Baserga SJ, (2010) When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst 6: 481-493. doi:10.1039/b919670f. PubMed: 20174677.
-
(2010)
Mol Biosyst
, vol.6
, pp. 481-493
-
-
Freed, E.F.1
Bleichert, F.2
Dutca, L.M.3
Baserga, S.J.4
-
14
-
-
77951431225
-
Ribosomopathies: human disorders of ribosome dysfunction
-
doi:10.1182/blood-2009-10-178129
-
Narla A, Ebert BL, (2010) Ribosomopathies: human disorders of ribosome dysfunction. Blood 115: 3196-3205. doi:10.1182/blood-2009-10-178129. PubMed: 20194897.
-
(2010)
Blood
, vol.115
, pp. 3196-3205
-
-
Narla, A.1
Ebert, B.L.2
-
15
-
-
62949245936
-
Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis
-
doi:10.1016/j.hoc.2009.01.004
-
Lipton JM, Ellis SR, (2009) Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am 23: 261-282. doi:10.1016/j.hoc.2009.01.004. PubMed: 19327583.
-
(2009)
Hematol Oncol Clin North Am
, vol.23
, pp. 261-282
-
-
Lipton, J.M.1
Ellis, S.R.2
-
16
-
-
12144288857
-
Sensing cellular stress: another new function for the nucleolus?
-
doi:15026578
-
Olson MO, (2004) Sensing cellular stress: another new function for the nucleolus? Sci STKE,(2004): ppp. e10. PubMed: 15026578.
-
(2004)
Sci STKE
-
-
Olson, M.O.1
-
17
-
-
79953117045
-
Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells
-
doi:10.1182/blood-2010-07-295238
-
Dutt S, Narla A, Lin K, Mullally A, Abayasekara N, et al. (2011) Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood 117: 2567-2576. doi:10.1182/blood-2010-07-295238. PubMed: 21068437.
-
(2011)
Blood
, vol.117
, pp. 2567-2576
-
-
Dutt, S.1
Narla, A.2
Lin, K.3
Mullally, A.4
Abayasekara, N.5
-
18
-
-
48249142323
-
The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway
-
doi:10.1093/hmg/ddn147
-
Skarie JM, Link BA, (2008) The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway. Hum Mol Genet 17: 2474-2485. doi:10.1093/hmg/ddn147. PubMed: 18469340.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2474-2485
-
-
Skarie, J.M.1
Link, B.A.2
-
19
-
-
38949170601
-
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
-
doi:10.1038/nm1725
-
Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, et al. (2008) Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 14: 125-133. doi:10.1038/nm1725. PubMed: 18246078.
-
(2008)
Nat Med
, vol.14
, pp. 125-133
-
-
Jones, N.C.1
Lynn, M.L.2
Gaudenz, K.3
Sakai, D.4
Aoto, K.5
-
20
-
-
84864858368
-
Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development
-
doi:10.1242/dev.077107
-
Provost E, Wehner KA, Zhong X, Ashar F, Nguyen E, et al. (2012) Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development. Development 139: 3232-3241. doi:10.1242/dev.077107. PubMed: 22872088.
-
(2012)
Development
, vol.139
, pp. 3232-3241
-
-
Provost, E.1
Wehner, K.A.2
Zhong, X.3
Ashar, F.4
Nguyen, E.5
-
21
-
-
84885399548
-
Zebrafish models of human liver development and disease
-
doi:10.1534/g3.113.005777
-
Wilkins BJ, Pack M, (2013) Zebrafish models of human liver development and disease. Compr. Physiol (Bethesda Md.) 3: 1213-1230. doi:10.1534/g3.113.005777.
-
(2013)
Compr. Physiol (Bethesda Md.)
, vol.3
, pp. 1213-1230
-
-
Wilkins, B.J.1
Pack, M.2
-
22
-
-
77149154314
-
Reiterative use of the notch signal during zebrafish intrahepatic biliary development
-
doi:10.1002/dvdy.22220
-
Lorent K, Moore JC, Siekmann AF, Lawson N, Pack M, (2010) Reiterative use of the notch signal during zebrafish intrahepatic biliary development. Dev Dyn 239: 855-864. doi:10.1002/dvdy.22220. PubMed: 20108354.
-
(2010)
Dev Dyn
, vol.239
, pp. 855-864
-
-
Lorent, K.1
Moore, J.C.2
Siekmann, A.F.3
Lawson, N.4
Pack, M.5
-
23
-
-
70349487183
-
Notch-responsive cells initiate the secondary transition in larval zebrafish pancreas
-
doi:10.1016/j.mod.2009.07.002
-
Parsons MJ, Pisharath H, Yusuff S, Moore JC, Siekmann AF, et al. (2009) Notch-responsive cells initiate the secondary transition in larval zebrafish pancreas. Mech Dev 126: 898-912. doi:10.1016/j.mod.2009.07.002. PubMed: 19595765.
-
(2009)
Mech Dev
, vol.126
, pp. 898-912
-
-
Parsons, M.J.1
Pisharath, H.2
Yusuff, S.3
Moore, J.C.4
Siekmann, A.F.5
-
24
-
-
10344236467
-
Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy
-
doi:10.1242/dev.01411
-
Lorent K, Yeo SY, Oda T, Chandrasekharappa S, Chitnis A, et al. (2004) Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy. Development 131: 5753-5766. doi:10.1242/dev.01411. PubMed: 15509774.
-
(2004)
Development
, vol.131
, pp. 5753-5766
-
-
Lorent, K.1
Yeo, S.Y.2
Oda, T.3
Chandrasekharappa, S.4
Chitnis, A.5
-
26
-
-
29644432716
-
Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6
-
doi:10.1242/dev.02140
-
Matthews RP, Plumb-Rudewiez N, Lorent K, Gissen P, Johnson CA, et al. (2005) Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6. Development 132: 5295-5306. doi:10.1242/dev.02140. PubMed: 16284120.
-
(2005)
Development
, vol.132
, pp. 5295-5306
-
-
Matthews, R.P.1
Plumb-Rudewiez, N.2
Lorent, K.3
Gissen, P.4
Johnson, C.A.5
-
27
-
-
0035907008
-
Genetic analysis of digestive physiology using fluorescent phospholipid reporters
-
doi:10.1126/science.1060418
-
Farber SA, Pack M, Ho SY, Johnson ID, Wagner DS, et al. (2001) Genetic analysis of digestive physiology using fluorescent phospholipid reporters. Science 292: 1385-1388. doi:10.1126/science.1060418. PubMed: 11359013.
-
(2001)
Science
, vol.292
, pp. 1385-1388
-
-
Farber, S.A.1
Pack, M.2
Ho, S.Y.3
Johnson, I.D.4
Wagner, D.S.5
-
28
-
-
4644331882
-
The zebrafish onecut gene hnf-6 functions in an evolutionarily conserved genetic pathway that regulates vertebrate biliary development
-
doi:10.1016/j.ydbio.2004.06.016
-
Matthews RP, Lorent K, Russo P, Pack M, (2004) The zebrafish onecut gene hnf-6 functions in an evolutionarily conserved genetic pathway that regulates vertebrate biliary development. Dev Biol 274: 245-259. doi:10.1016/j.ydbio.2004.06.016. PubMed: 15385156.
-
(2004)
Dev Biol
, vol.274
, pp. 245-259
-
-
Matthews, R.P.1
Lorent, K.2
Russo, P.3
Pack, M.4
-
29
-
-
84866148204
-
NOL11, Implicated in the Pathogenesis of North American Indian Childhood Cirrhosis, Is Required for Pre-rRNA Transcription and Processing
-
22916032
-
Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ, (2012) NOL11, Implicated in the Pathogenesis of North American Indian Childhood Cirrhosis, Is Required for Pre-rRNA Transcription and Processing. PLOS Genet 8: e1002892. PubMed: 22916032.
-
(2012)
PLOS Genet
, vol.8
-
-
Freed, E.F.1
Prieto, J.L.2
McCann, K.L.3
McStay, B.4
Baserga, S.J.5
-
30
-
-
19944426854
-
tp53 mutant zebrafish develop malignant peripheral nerve sheath tumors
-
doi:10.1073/pnas.0406252102
-
Berghmans S, Murphey RD, Wienholds E, Neuberg D, Kutok JL, et al. (2005) tp53 mutant zebrafish develop malignant peripheral nerve sheath tumors. Proc Natl Acad Sci U S A 102: 407-412. doi:10.1073/pnas.0406252102. PubMed: 15630097.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 407-412
-
-
Berghmans, S.1
Murphey, R.D.2
Wienholds, E.3
Neuberg, D.4
Kutok, J.L.5
-
31
-
-
49249139050
-
The post-transcriptional steps of eukaryotic ribosome biogenesis
-
doi:10.1007/s00018-008-8027-0
-
Henras AK, Soudet J, Gérus M, Lebaron S, Caizergues-Ferrer M, et al. (2008) The post-transcriptional steps of eukaryotic ribosome biogenesis. Cell Mol Life Sci 65: 2334-2359. doi:10.1007/s00018-008-8027-0. PubMed: 18408888.
-
(2008)
Cell Mol Life Sci
, vol.65
, pp. 2334-2359
-
-
Henras, A.K.1
Soudet, J.2
Gérus, M.3
Lebaron, S.4
Caizergues-Ferrer, M.5
-
32
-
-
33744959048
-
Perturbation of rRNA synthesis in the bap28 mutation leads to apoptosis mediated by p53 in the zebrafish central nervous system
-
doi:10.1074/jbc.M601892200
-
Azuma M, Toyama R, Laver E, Dawid IB, (2006) Perturbation of rRNA synthesis in the bap28 mutation leads to apoptosis mediated by p53 in the zebrafish central nervous system. J Biol Chem 281: 13309-13316. doi:10.1074/jbc.M601892200. PubMed: 16531401.
-
(2006)
J Biol Chem
, vol.281
, pp. 13309-13316
-
-
Azuma, M.1
Toyama, R.2
Laver, E.3
Dawid, I.B.4
-
33
-
-
34547936557
-
Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells
-
doi:10.1101/gad.436707
-
Prieto JL, McStay B, (2007) Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells. Genes Dev 21: 2041-2054. doi:10.1101/gad.436707. PubMed: 17699751.
-
(2007)
Genes Dev
, vol.21
, pp. 2041-2054
-
-
Prieto, J.L.1
McStay, B.2
-
34
-
-
77958117854
-
Biopsy Diagnosis of Inherited Liver Disease
-
Roy A, Finegold MJ, (2010) Biopsy Diagnosis of Inherited Liver Disease. Surgical Pathology Clinics 3: 743-768.
-
(2010)
Surgical Pathology Clinics
, vol.3
, pp. 743-768
-
-
Roy, A.1
Finegold, M.J.2
-
35
-
-
34249680274
-
p53 activation by knockdown technologies
-
doi:10.1371/journal.pgen.0030078
-
Robu ME, Larson JD, Nasevicius A, Beiraghi S, Brenner C, et al. (2007) p53 activation by knockdown technologies. PLOS Genet 3: e78. doi:10.1371/journal.pgen.0030078. PubMed: 17530925.
-
(2007)
PLOS Genet
, vol.3
-
-
Robu, M.E.1
Larson, J.D.2
Nasevicius, A.3
Beiraghi, S.4
Brenner, C.5
-
36
-
-
84860527756
-
A unifying model for mTORC1-mediated regulation of mRNA translation
-
doi:10.1038/nature11083
-
Thoreen CC, Chantranupong L, Keys HR, Wang T, Gray NS, et al. (2012) A unifying model for mTORC1-mediated regulation of mRNA translation. Nature 485: 109-113. doi:10.1038/nature11083. PubMed: 22552098.
-
(2012)
Nature
, vol.485
, pp. 109-113
-
-
Thoreen, C.C.1
Chantranupong, L.2
Keys, H.R.3
Wang, T.4
Gray, N.S.5
-
37
-
-
0030451845
-
Mutations affecting development of zebrafish digestive organs
-
9007252
-
Pack M, Solnica-Krezel L, Malicki J, Neuhauss SC, Schier AF, et al. (1996) Mutations affecting development of zebrafish digestive organs. Development 123: 321-328. PubMed: 9007252.
-
(1996)
Development
, vol.123
, pp. 321-328
-
-
Pack, M.1
Solnica-Krezel, L.2
Malicki, J.3
Neuhauss, S.C.4
Schier, A.F.5
-
38
-
-
0037434880
-
In vivo studies of liver-type fatty acid binding protein (L-FABP) gene expression in liver of transgenic zebrafish (Danio rerio)
-
doi:10.1016/S0014-5793(03)00157-1
-
Her GM, Chiang CC, Chen WY, Wu JL, (2003) In vivo studies of liver-type fatty acid binding protein (L-FABP) gene expression in liver of transgenic zebrafish (Danio rerio). FEBS Lett 538: 125-133. doi:10.1016/S0014-5793(03)00157-1. PubMed: 12633865.
-
(2003)
FEBS Lett
, vol.538
, pp. 125-133
-
-
Her, G.M.1
Chiang, C.C.2
Chen, W.Y.3
Wu, J.L.4
-
39
-
-
33751032262
-
A chemical genetic screen for cell cycle inhibitors in zebrafish embryos
-
doi:10.1111/j.1747-0285.2006.00439.x
-
Murphey RD, Stern HM, Straub CT, Zon LI, (2006) A chemical genetic screen for cell cycle inhibitors in zebrafish embryos. Chem Biol Drugs Des 68: 213-219. doi:10.1111/j.1747-0285.2006.00439.x.
-
(2006)
Chem Biol Drugs Des
, vol.68
, pp. 213-219
-
-
Murphey, R.D.1
Stern, H.M.2
Straub, C.T.3
Zon, L.I.4
-
40
-
-
55449091773
-
Mutation of the zebrafish nucleoporin elys sensitizes tissue progenitors to replication stress
-
doi:18974873
-
Davuluri G, Gong W, Yusuff S, Lorent K, Muthumani M, et al. (2008) Mutation of the zebrafish nucleoporin elys sensitizes tissue progenitors to replication stress. PLOS Genet 4: e1000240. PubMed: 18974873.
-
(2008)
PLOS Genet
, vol.4
-
-
Davuluri, G.1
Gong, W.2
Yusuff, S.3
Lorent, K.4
Muthumani, M.5
-
41
-
-
0035104351
-
Improved non-radioactive Northern blot protocol for detecting low abundance mRNAs from mammalian tissues
-
doi:10.1023/A:1005693928291
-
Solanas M, Moral R, Escrich E, (2001) Improved non-radioactive Northern blot protocol for detecting low abundance mRNAs from mammalian tissues. Biotechnol Lett 23: 263-266. doi:10.1023/A:1005693928291.
-
(2001)
Biotechnol Lett
, vol.23
, pp. 263-266
-
-
Solanas, M.1
Moral, R.2
Escrich, E.3
|