22q11.2 copy number variation syndrome (Homo sapiens)
From WikiPathways
Description
The 22q11.2 deletion syndrome can result in the loss of up to 46 protein-coding genes, which have wide-spread effects on human development. The loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.
Quality Tags
Ontology Terms
Bibliography
View all... |
- Williams HJ, Owen MJ, O'Donovan MC; ''Is COMT a susceptibility gene for schizophrenia?''; Schizophr Bull, 2007 PubMed Europe PMC Scholia
- de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, Pascual MV, van Oers NSC; ''Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.''; Clin Immunol, 2013 PubMed Europe PMC Scholia
- Moon AM, Guris DL, Seo JH, Li L, Hammond J, Talbot A, Imamoto A; ''Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.''; Dev Cell, 2006 PubMed Europe PMC Scholia
- Chang YH, Nishimura S, Oishi H, Kelly VP, Kuno A, Takahashi S; ''TRMT2A is a novel cell cycle regulator that suppresses cell proliferation.''; Biochem Biophys Res Commun, 2019 PubMed Europe PMC Scholia
- Liu N, Olson EN; ''Coactivator control of cardiovascular growth and remodeling.''; Curr Opin Cell Biol, 2006 PubMed Europe PMC Scholia
- West MB, Wickham S, Parks EE, Sherry DM, Hanigan MH; ''Human GGT2 does not autocleave into a functional enzyme: A cautionary tale for interpretation of microarray data on redox signaling.''; Antioxid Redox Signal, 2013 PubMed Europe PMC Scholia
- van Bueren KL, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, Szumska D, Kelly RG, Bhattacharya S, Scambler PJ; ''Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.''; Dev Biol, 2010 PubMed Europe PMC Scholia
- Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA; ''Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.''; Nat Genet, 2008 PubMed Europe PMC Scholia
- Chun S, Westmoreland JJ, Bayazitov IT, Eddins D, Pani AK, Smeyne RJ, Yu J, Blundon JA, Zakharenko SS; ''Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models.''; Science, 2014 PubMed Europe PMC Scholia
- Roberts C, Ivins SM, James CT, Scambler PJ; ''Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.''; Dev Dyn, 2005 PubMed Europe PMC Scholia
- Byrd NA, Meyers EN; ''Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo.''; Dev Biol, 2005 PubMed Europe PMC Scholia
- Chen CY, Schwartz RJ; ''Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.''; Mol Cell Biol, 1996 PubMed Europe PMC Scholia
- Shi S, Leites C, He D, Schwartz D, Moy W, Shi J, Duan J; ''MicroRNA-9 and microRNA-326 regulate human dopamine D2 receptor expression, and the microRNA-mediated expression regulation is altered by a genetic variant.''; J Biol Chem, 2014 PubMed Europe PMC Scholia
- Ivins S, Lammerts van Beuren K, Roberts C, James C, Lindsay E, Baldini A, Ataliotis P, Scambler PJ; ''Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.''; Dev Biol, 2005 PubMed Europe PMC Scholia
- Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B; ''SEPT5_v2 is a parkin-binding protein.''; Brain Res Mol Brain Res, 2003 PubMed Europe PMC Scholia
- Plafker K, Macara IG; ''Facilitated nucleocytoplasmic shuttling of the Ran binding protein RanBP1.''; Mol Cell Biol, 2000 PubMed Europe PMC Scholia
- Akashi M, Takumi T; ''The orphan nuclear receptor RORalpha regulates circadian transcription of the mammalian core-clock Bmal1.''; Nat Struct Mol Biol, 2005 PubMed Europe PMC Scholia
- Ni C, Yang P, Guo J, Ye M; ''Role of DiGeorge syndrome critical region gene 9, a long noncoding RNA, in gastric cancer.''; Onco Targets Ther, 2018 PubMed Europe PMC Scholia
- Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A; ''The armadillo repeat region targets ARVCF to cadherin-based cellular junctions.''; J Cell Sci, 2000 PubMed Europe PMC Scholia
- Macfarlan T, Kutney S, Altman B, Montross R, Yu J, Chakravarti D; ''Human THAP7 is a chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressor.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
- Yi Z, Ouyang J, Sun W, Li S, Xiao X, Zhang Q; ''Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.''; EBioMedicine, 2020 PubMed Europe PMC Scholia
- Xu B, Hsu PK, Stark KL, Karayiorgou M, Gogos JA; ''Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion.''; Cell, 2013 PubMed Europe PMC Scholia
- Neville MJ, Johnstone EC, Walton RT; ''Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1.''; Hum Mutat, 2004 PubMed Europe PMC Scholia
- Belangero SI, Ota VK, Gadelha A, Berberian AA, Assunção-Leme IB, Noto C, Christofolini DM, Bellucco FT, Santoro ML, Mazzotti DR, Zugman A, Melaragno MI, Smith MAC, Pellegrino R, Hakonarson H, Cordeiro Q, Moretti PN, Bressan RA, Mari JJ, Jackowski AP; ''DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.''; Psychiatry Res, 2019 PubMed Europe PMC Scholia
- Fournier AE, GrandPre T, Strittmatter SM; ''Identification of a receptor mediating Nogo-66 inhibition of axonal regeneration.''; Nature, 2001 PubMed Europe PMC Scholia
- Takase K, Ohtsuki T, Migita O, Toru M, Inada T, Yamakawa-Kobayashi K, Arinami T; ''Association of ZNF74 gene genotypes with age-at-onset of schizophrenia.''; Schizophr Res, 2001 PubMed Europe PMC Scholia
- Zunner D, Deschermeier C, Kornau HC; ''GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome.''; Biochem Biophys Res Commun, 2010 PubMed Europe PMC Scholia
- Cui Y, Pu R, Ye J, Huang H, Liao D, Yang Y, Chen W, Yao Y, He Y; ''LncRNA FAM230B Promotes Gastric Cancer Growth and Metastasis byRegulating the miR-27a-5p/TOP2A Axis.''; Dig Dis Sci, 2020 PubMed Europe PMC Scholia
- Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG; ''Role of claudin interactions in airway tight junctional permeability.''; Am J Physiol Lung Cell Mol Physiol, 2003 PubMed Europe PMC Scholia
- Yang F, Vought BW, Satterlee JS, Walker AK, Jim Sun ZY, Watts JL, DeBeaumont R, Saito RM, Hyberts SG, Yang S, Macol C, Iyer L, Tjian R, van den Heuvel S, Hart AC, Wagner G, Näär AM; ''An ARC/Mediator subunit required for SREBP control of cholesterol and lipid homeostasis.''; Nature, 2006 PubMed Europe PMC Scholia
- Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B; ''Human septin-septin interaction: CDCrel-1 partners with KIAA0202.''; FEBS Lett, 2002 PubMed Europe PMC Scholia
- Choi M, Klingensmith J; ''Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.''; PLoS Genet, 2009 PubMed Europe PMC Scholia
- Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, Lipinski M; ''Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.''; Mol Cell Biol, 1998 PubMed Europe PMC Scholia
- Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivastava D; ''Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.''; Genes Dev, 2003 PubMed Europe PMC Scholia
- Wong K, Cantley LC; ''Cloning and characterization of a human phosphatidylinositol 4-kinase.''; J Biol Chem, 1994 PubMed Europe PMC Scholia
- Zhang R, Poustovoitov MV, Ye X, Santos HA, Chen W, Daganzo SM, Erzberger JP, Serebriiskii IG, Canutescu AA, Dunbrack RL, Pehrson JR, Berger JM, Kaufman PD, Adams PD; ''Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA.''; Dev Cell, 2005 PubMed Europe PMC Scholia
- Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D; ''A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.''; Science, 1999 PubMed Europe PMC Scholia
- Pacek M, Tutter AV, Kubota Y, Takisawa H, Walter JC; ''Localization of MCM2-7, Cdc45, and GINS to the site of DNA unwinding during eukaryotic DNA replication.''; Mol Cell, 2006 PubMed Europe PMC Scholia
- Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B; ''Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.''; Genomics, 1998 PubMed Europe PMC Scholia
- Williams NM, Glaser B, Norton N, Williams H, Pierce T, Moskvina V, Monks S, Del Favero J, Goossens D, Rujescu D, Giegling I, Kirov G, Craddock N, Murphy KC, O'Donovan MC, Owen MJ; ''Strong evidence that GNB1L is associated with schizophrenia.''; Hum Mol Genet, 2008 PubMed Europe PMC Scholia
- Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T; ''The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders.''; Genomics, 2001 PubMed Europe PMC Scholia
- McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA; ''Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.''; J Med Genet, 2013 PubMed Europe PMC Scholia
- Vassilopoulos S, Esk C, Hoshino S, Funke BH, Chen CY, Plocik AM, Wright WE, Kucherlapati R, Brodsky FM; ''A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism.''; Science, 2009 PubMed Europe PMC Scholia
- Ishiguro H, Koga M, Horiuchi Y, Noguchi E, Morikawa M, Suzuki Y, Arai M, Niizato K, Iritani S, Itokawa M, Inada T, Iwata N, Ozaki N, Ujike H, Kunugi H, Sasaki T, Takahashi M, Watanabe Y, Someya T, Kakita A, Takahashi H, Nawa H, Arinami T; ''Supportive evidence for reduced expression of GNB1L in schizophrenia.''; Schizophr Bull, 2010 PubMed Europe PMC Scholia
- Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ; ''HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.''; Nat Genet, 1998 PubMed Europe PMC Scholia
- Wang KC, Kim JA, Sivasankaran R, Segal R, He Z; ''P75 interacts with the Nogo receptor as a co-receptor for Nogo, MAG and OMgp.''; Nature, 2002 PubMed Europe PMC Scholia
- Chen J, Ou Y, Yang Y, Li W, Xu Y, Xie Y, Liu Y; ''KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing.''; Nature, 2018 PubMed Europe PMC Scholia
- Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A; ''A genetic link between Tbx1 and fibroblast growth factor signaling.''; Development, 2002 PubMed Europe PMC Scholia
- Hao Z, Jha KN, Kim YH, Vemuganti S, Westbrook VA, Chertihin O, Markgraf K, Flickinger CJ, Coppola M, Herr JC, Visconti PE; ''Expression analysis of the human testis-specific serine/threonine kinase (TSSK) homologues. A TSSK member is present in the equatorial segment of human sperm.''; Mol Hum Reprod, 2004 PubMed Europe PMC Scholia
- Takada I, Tsuchiya M, Yanaka K, Hidano S, Takahashi S, Kobayashi T, Ogawa H, Nakagawa S, Makishima M; ''Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains.''; Biochem Biophys Res Commun, 2018 PubMed Europe PMC Scholia
- Xu H, Morishima M, Wylie JN, Schwartz RJ, Bruneau BG, Lindsay EA, Baldini A; ''Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.''; Development, 2004 PubMed Europe PMC Scholia
- Molinard-Chenu A, Dayer A; ''The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis.''; Biol Psychiatry, 2018 PubMed Europe PMC Scholia
- Bischoff FR, Krebber H, Smirnova E, Dong W, Ponstingl H; ''Co-activation of RanGTPase and inhibition of GTP dissociation by Ran-GTP binding protein RanBP1.''; EMBO J, 1995 PubMed Europe PMC Scholia
- Maerki S, Olma MH, Staubli T, Steigemann P, Gerlich DW, Quadroni M, Sumara I, Peter M; ''''; , PubMed Europe PMC Scholia
- Chen CY, Schwartz RJ; ''Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.''; Mol Cell Biol, 1996 PubMed Europe PMC Scholia
- Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE; ''Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field.''; Development, 2006 PubMed Europe PMC Scholia
- Bedeschi MF, Colombo L, Mari F, Hofmann K, Rauch A, Gentilin B, Renieri A, Clerici D; ''Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.''; Mol Syndromol, 2010 PubMed Europe PMC Scholia
- Jennions E, Hedberg-Oldfors C, Berglund AK, Kollberg G, Törnhage CJ, Eklund EA, Oldfors A, Verloo P, Vanlander AV, De Meirleir L, Seneca S, Sterky FH, Darin N; ''TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.''; J Inherit Metab Dis, 2019 PubMed Europe PMC Scholia
- Wolf S, Janzen A, Vékony N, Martiné U, Strand D, Closs EI; ''Expression of solute carrier 7A4 (SLC7A4) in the plasma membrane is not sufficient to mediate amino acid transport activity.''; Biochem J, 2002 PubMed Europe PMC Scholia
- Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE; ''Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.''; Hum Mol Genet, 2006 PubMed Europe PMC Scholia
- Takeda E, Hieda M, Katahira J, Yoneda Y; ''Phosphorylation of RanGAP1 stabilizes its interaction with Ran and RanBP1.''; Cell Struct Funct, 2005 PubMed Europe PMC Scholia
- Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B; ''UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.''; Hum Mol Genet, 1997 PubMed Europe PMC Scholia
- Weitz SH, Gong M, Barr I, Weiss S, Guo F; ''Processing of microRNA primary transcripts requires heme in mammalian cells.''; Proc Natl Acad Sci U S A, 2014 PubMed Europe PMC Scholia
- Loppin B, Bonnefoy E, Anselme C, Laurençon A, Karr TL, Couble P; ''The histone H3.3 chaperone HIRA is essential for chromatin assembly in the male pronucleus.''; Nature, 2005 PubMed Europe PMC Scholia
- Metzger T, Kleiss C, Sumara I; ''CUL3 and protein kinases: insights from PLK1/KLHL22 interaction.''; Cell Cycle, 2013 PubMed Europe PMC Scholia
- Zhang X, Weng C, Li Y, Wang X, Jiang C, Li X, Xu Y, Chen Q, Pan L, Tang H; ''Human Bop is a novel BH3-only member of the Bcl-2 protein family.''; Protein Cell, 2012 PubMed Europe PMC Scholia
- Seewald MJ, Körner C, Wittinghofer A, Vetter IR; ''RanGAP mediates GTP hydrolysis without an arginine finger.''; Nature, 2002 PubMed Europe PMC Scholia
- Sperandeo MP, Borsani G, Incerti B, Zollo M, Rossi E, Zuffardi O, Castaldo P, Taglialatela M, Andria G, Sebastio G; ''The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.''; Genomics, 1998 PubMed Europe PMC Scholia
- Si ZH, Rauch D, Stoltzfus CM; ''The exon splicing silencer in human immunodeficiency virus type 1 Tat exon 3 is bipartite and acts early in spliceosome assembly.''; Mol Cell Biol, 1998 PubMed Europe PMC Scholia
- Xie Q, Lin T, Zhang Y, Zheng J, Bonanno JA; ''Molecular cloning and characterization of a human AIF-like gene with ability to induce apoptosis.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
- Heisterkamp N, Groffen J, Warburton D, Sneddon TP; ''The human gamma-glutamyltransferase gene family.''; Hum Genet, 2008 PubMed Europe PMC Scholia
- Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GH, Chen YC, Benn CL, Carvalho OP, Shaikh SS, Phelan A, Robinson MS, Royle SJ, Woods CG; ''A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.''; Brain, 2015 PubMed Europe PMC Scholia
- Rosa RF, Rosa RC, Dos Santos PP, Zen PR, Paskulin GA; ''Hematological abnormalities and 22q11.2 deletion syndrome.''; Rev Bras Hematol Hemoter, 2011 PubMed Europe PMC Scholia
- Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, Dong JT, Li M, Joshi HC, Zhou J; ''Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase.''; J Biol Chem, 2008 PubMed Europe PMC Scholia
- Guillaumond F, Dardente H, Giguère V, Cermakian N; ''Differential control of Bmal1 circadian transcription by REV-ERB and ROR nuclear receptors.''; J Biol Rhythms, 2005 PubMed Europe PMC Scholia
- Hayashi N, Yokoyama N, Seki T, Azuma Y, Ohba T, Nishimoto T; ''RanBP1, a Ras-like nuclear G protein binding to Ran/TC4, inhibits RCC1 via Ran/TC4.''; Mol Gen Genet, 1995 PubMed Europe PMC Scholia
- Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, Sharp FR, Angkustsiri K, Simon TJ, Tassone F; ''Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.''; PLoS One, 2014 PubMed Europe PMC Scholia
- Glaeser AB, Santos AS, Diniz BL, Deconte D, Rosa RFM, Zen PRG; ''Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.''; Am J Med Genet A, 2020 PubMed Europe PMC Scholia
- Yaseen NR, Blobel G; ''GTP hydrolysis links initiation and termination of nuclear import on the nucleoporin nup358.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
- Beites CL, Xie H, Bowser R, Trimble WS; ''The septin CDCrel-1 binds syntaxin and inhibits exocytosis.''; Nat Neurosci, 1999 PubMed Europe PMC Scholia
- Singh BB, Patel HH, Roepman R, Schick D, Ferreira PA; ''The zinc finger cluster domain of RanBP2 is a specific docking site for the nuclear export factor, exportin-1.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
- Chen L, Fulcoli FG, Tang S, Baldini A; ''Tbx1 regulates proliferation and differentiation of multipotent heart progenitors.''; Circ Res, 2009 PubMed Europe PMC Scholia
- Bläser S, Röseler S, Rempp H, Bartsch I, Bauer H, Lieber M, Lessmann E, Weingarten L, Busse A, Huber M, Zieger B; ''Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5.''; J Pathol, 2006 PubMed Europe PMC Scholia
- Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K, Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y; ''Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.''; Hum Genet, 2019 PubMed Europe PMC Scholia
- Zhang Y, Dai J, Tang J, Zhou L, Zhou M; ''MicroRNA-649 promotes HSV-1 replication by directly targeting MALT1.''; J Med Virol, 2017 PubMed Europe PMC Scholia
- Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B; ''Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202).''; Gene, 2003 PubMed Europe PMC Scholia
- Beck J, Maerki S, Posch M, Metzger T, Persaud A, Scheel H, Hofmann K, Rotin D, Pedrioli P, Swedlow JR, Peter M, Sumara I; ''Ubiquitylation-dependent localization of PLK1 in mitosis.''; Nat Cell Biol, 2013 PubMed Europe PMC Scholia
- Gottlieb S, Hanes SD, Golden JA, Oakey RJ, Budarf ML; ''Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain.''; Hum Mol Genet, 1998 PubMed Europe PMC Scholia
- Dykes IM, van Bueren KL, Ashmore RJ, Floss T, Wurst W, Szumska D, Bhattacharya S, Scambler PJ; ''HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.''; Circ Res, 2014 PubMed Europe PMC Scholia
- Gong X, Du X, Xu Y, Zheng W; ''LINC00037 Inhibits Proliferation of Renal Cell Carcinoma Cells in an Epidermal Growth Factor Receptor-Dependent Way.''; Cell Physiol Biochem, 2018 PubMed Europe PMC Scholia
- Urano T, Nishimori H, Han H, Furuhata T, Kimura Y, Nakamura Y, Tokino T; ''Cloning of P2XM, a novel human P2X receptor gene regulated by p53.''; Cancer Res, 1997 PubMed Europe PMC Scholia
- Liu H, Heath SC, Sobin C, Roos JL, Galke BL, Blundell ML, Lenane M, Robertson B, Wijsman EM, Rapoport JL, Gogos JA, Karayiorgou M; ''Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.''; Proc Natl Acad Sci U S A, 2002 PubMed Europe PMC Scholia
- Song JY, Lee SH, Kim MK, Jeon BN, Cho SY, Kim KS, Hur MW; ''HIC2, a new transcription activator of SIRT1.''; FEBS Lett, 2019 PubMed Europe PMC Scholia
- Grondin B, Côté F, Bazinet M, Vincent M, Aubry M; ''Direct interaction of the KRAB/Cys2-His2 zinc finger protein ZNF74 with a hyperphosphorylated form of the RNA polymerase II largest subunit.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
- Li X, Ke Q, Li Y, Liu F, Zhu G, Li F; ''DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated migration of human gastric cancer cell via LIMK1.''; Int J Biochem Cell Biol, 2010 PubMed Europe PMC Scholia
History
View all... |
External references
DataNodes
View all... |
Annotated Interactions
Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
1-phosphatidyl-1D-myo-inositol(1−) | 1-phosphatidyl-1D-myo-inositol 4-phosphate(3−) | mim-conversion | 19877 (Rhea) | |
ATP(4−) | ADP(3−) | mim-conversion | 19877 (Rhea) |