Publications related to Q7Z6J9 - SEN54_HUMAN
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- 1"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ASP-4.Category: Sequences.Tissue: Cerebellum.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 12918 other entries.
- 2"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].Category: Sequences.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 4608 other entries.
- 3"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASP-4; ASN-347 AND VAL-437.Category: Sequences.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 50496 other entries.
- 4"Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation."
Paushkin S.V., Patel M., Furia B.S., Peltz S.W., Trotta C.R.
Cell 117:311-321(2004) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, COMPONENT OF A COMPLEX WITH SEN2; SEN15; SEN34 AND CLP1.Category: Function, Interaction.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 4 and mapped to 3 other entries.
- 5"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].Category: Sequences.Tissue: Cervix carcinoma.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 8501 other entries.
- 6"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, VARIANT [LARGE SCALE ANALYSIS] ASP-4, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].Category: Pathology & Biotech, PTM / Processing, Sequences.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 5228 and mapped to 14 other entries.
- 7"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-178 AND SER-267, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].Category: PTM / Processing, Sequences.Tissue: Cervix carcinoma.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 7057 and mapped to 5 other entries.
- 8"TSEN54 mutations cause pontocerebellar hypoplasia type 5."
Namavar Y., Chitayat D., Barth P.G., van Ruissen F., de Wissel M.B., Poll-The B.T., Silver R., Baas F.
Eur. J. Hum. Genet. 19:724-726(2011) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN PCH5.Category: Pathology & Biotech.Source: UniProtKB/Swiss-Prot (reviewed). - 9"Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4."
Rudaks L.I., Moore L., Shand K.L., Wilkinson C., Barnett C.P.
Pediatr. Neurol. 45:185-188(2011) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN PCH4.Category: Pathology & Biotech.Source: UniProtKB/Swiss-Prot (reviewed). - 10"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, VARIANT [LARGE SCALE ANALYSIS] ASP-4, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].Category: Pathology & Biotech, PTM / Processing, Sequences.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 5323 and mapped to 3 other entries.
- 11"Toward a comprehensive characterization of a human cancer cell phosphoproteome."
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-180 AND SER-267, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].Category: PTM / Processing, Sequences.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 12970 other entries.
- 12"Immunoaffinity enrichment and mass spectrometry analysis of protein methylation."
Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M., Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V., Bedford M.T., Comb M.J.
Mol. Cell. Proteomics 13:372-387(2014) [PubMed] [Europe PMC] [Abstract]Cited for: METHYLATION [LARGE SCALE ANALYSIS] AT ARG-316, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].Category: PTM / Processing, Sequences.Tissue: Colon carcinoma.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 1972 other entries.
- 13"tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia."
Budde B.S., Namavar Y., Barth P.G., Poll-The B.T., Nuernberg G., Becker C., van Ruissen F., Weterman M.A.J., Fluiter K., te Beek E.T., Aronica E., van der Knaap M.S., Hoehne W., Toliat M.R., Crow Y.J., Steinling M., Voit T., Roelenso F. Baas F.
Nat. Genet. 40:1113-1118(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PCH2A SER-307, VARIANTS PCH4 PRO-93 AND SER-307.Category: Pathology & Biotech, Sequences.Source: UniProtKB/Swiss-Prot (reviewed).This publication is cited by 2 other entries.
- 14"Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2."
Battini R., D'Arrigo S., Cassandrini D., Guzzetta A., Fiorillo C., Pantaleoni C., Romano A., Alfei E., Cioni G., Santorelli F.M.
J. Child Neurol. 29:520-525(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PCH2A ASP-119 AND SER-307.Category: Pathology & Biotech, Sequences.Source: UniProtKB/Swiss-Prot (reviewed). - 15"A familial late-onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation."
Qian Y., Wang H., Jin T., Wang Y., Fang L., Chen Y., Chen L.
Mol. Med. Report. 10:1423-1425(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT VAL-85.Category: Sequences.Source: UniProtKB/Swiss-Prot (reviewed). - 16"Systematic analysis of human protein complexes identifies chromosome segregation proteins."
Hutchins J.R., Toyoda Y., Hegemann B., Poser I., Heriche J.K., Sykora M.M., Augsburg M., Hudecz O., Buschhorn B.A., Bulkescher J., Conrad C., Comartin D., Schleiffer A., Sarov M., Pozniakovsky A., Slabicki M.M., Schloissnig S., Steinmacher I. Peters J.M.
Science 328:593-599(2010) [PubMed] [Europe PMC] [Abstract]Category: Interaction.Source: IntAct:Q7Z6J9.This publication is cited by 9 and mapped to 1382 other entries.
- 17"Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies."
Cassandrini D., Biancheri R., Tessa A., Di Rocco M., Di Capua M., Bruno C., Denora P.S., Sartori S., Rossi A., Nozza P., Emma F., Mezzano P., Politi M.R., Laverda A.M., Zara F., Pavone L., Simonati A., Leuzzi V., Santorelli F.M., Bertini E.
Neurology 75:1459-1464(2010) [PubMed] [Europe PMC] [Abstract]Annotation: We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype.Imported.Source: GeneRIF:283989.This publication is mapped to 1 other entry.
- 18"Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development."
Maricich S.M., Aqeeb K.A., Moayedi Y., Mathes E.L., Patel M.S., Chitayat D., Lyon G., Leroy J.G., Zoghbi H.Y.
J. Child Neurol. 26:288-294(2011) [PubMed] [Europe PMC] [Abstract]Annotation: The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54.Imported.Source: GeneRIF:283989.This publication is mapped to 1 other entry.
- 19"TSEN54 mutation in a child with pontocerebellar hypoplasia type 1."
Simonati A., Cassandrini D., Bazan D., Santorelli F.M.
Acta Neuropathol. 121:671-673(2011) [PubMed] [Europe PMC] [Abstract]Annotation: TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family.Imported.Source: GeneRIF:283989.This publication is mapped to 1 other entry.
- 20"A directed protein interaction network for investigating intracellular signal transduction."
Vinayagam A., Stelzl U., Foulle R., Plassmann S., Zenkner M., Timm J., Assmus H.E., Andrade-Navarro M.A., Wanker E.E.
Sci Signal 4:rs8-rs8(2011) [PubMed] [Europe PMC] [Abstract]Category: Interaction.Source: IntAct:Q7Z6J9.This publication is mapped to 1118 other entries.
- 21"A proteome-scale map of the human interactome network."
Rolland T., Tasan M., Charloteaux B., Pevzner S.J., Zhong Q., Sahni N., Yi S., Lemmens I., Fontanillo C., Mosca R., Kamburov A., Ghiassian S.D., Yang X., Ghamsari L., Balcha D., Begg B.E., Braun P., Brehme M. Vidal M.
Cell 159:1212-1226(2014) [PubMed] [Europe PMC] [Abstract]Category: Interaction.Source: IntAct:Q7Z6J9.This publication is mapped to 4120 other entries.
- 22"TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family."
Maras-Genc H., Uyur-Yalcın E., Rosti R.O., Gleeson J.G., Kara B.
Turk. J. Pediatr. 57:286-289(2015) [PubMed] [Europe PMC] [Abstract]Annotation: TSEN54 gene-related pontocerebellar hypoplasia type 2 presented with exaggerated startle response in cousins.Imported.Source: GeneRIF:283989.This publication is mapped to 1 other entry.