1 | CVPI, SAMHD1
|
| Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
|
| Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H.
|
| Proc Natl Acad Sci U S A 108(13):5372-7. Epub 2011 Mar 14.
2011
|
2 | SAMHD1
|
| Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
|
| Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ.
|
| Am J Med Genet A 155A(1):235-7. doi: 10.1002/ajmg.a.33778. No abstract available.
2011
|
3 | AGS5, SAMHD1
|
| A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
|
| Leshinsky-Silver E, Malinger G, Ben-Sira L, Kidron D, Cohen S, Inbar S, Bezaleli T, Levine A, Vinkler C, Lev D, Lerman-Sagie T.
|
| Eur J Hum Genet 19(3):287-92. Epub 2010 Nov 24.
2011
|
4 | SAMHD1
|
| SAMHD1: a new insight into HIV-1 restriction in myeloid cells.
|
| St Gelais C, Wu L.
|
| Retrovirology 8:55. Review.
2011
|
5 | SAMHD1
|
| SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx.
|
| Laguette N, Sobhian B, Casartelli N, Ringeard M, Chable-Bessia C, Ségéral E, Yatim A, Emiliani S, Schwartz O, Benkirane M.
|
| Nature 474(7353):654-7. doi: 10.1038/nature10117. 2011
|
6 | RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
|
| Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase.
|
| Powell RD, Holland PJ, Hollis T, Perrino FW.
|
| J Biol Chem 286(51):43596-600. doi: 10.1074/jbc.C111.317628. Epub 2011 Nov 7.
2011
|
7 | SAMHD1
|
| HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.
|
| Goldstone DC, Ennis-Adeniran V, Hedden JJ, Groom HC, Rice GI, Christodoulou E, Walker PA, Kelly G, Haire LF, Yap MW, de Carvalho LP, Stoye JP, Crow YJ, Taylor IA, Webb M.
|
| Nature 480(7377):379-82. doi: 10.1038/nature10623.
2011
|
8 | AGS5, SAMHD1
|
| Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.
|
| Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ.
|
| Am J Med Genet A 152A(4):938-42.PMID: 20358604 2010
|
9 | AGS5, SAMHD1
|
| Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
|
| Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ.
|
| Nat Genet 41(7):829-32. Epub 2009 Jun 14.
2009
|
10 | AIF1L, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1B, APOLD1, ARMC4, ATXN10, C10orf10, C10orf10, C10orf118, C2orf14, C2orf16, C6orf60, C6orf62, C8orf71, CALCOCO1, CAMKK1, CCDC113, CCDC135, CCDC9, CCDC90B, CCNB2, CD99L2, CHPF, CLIC4, CLPB, CRELD1, CYBRD1, DDX47, DHRS7B, ESPN, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GOLT1B, GPS2, GRIPAP1, HIGD1A, IER3IP1, KIF18A, KIRREL2, KLC2, LHX6, LMAN2L, MAF1, MED23, MIS12, MOB4, MYCBPAP, NCALD, NELF, NELFB, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, PCBD2, PMFBP1, PRPF31, PRSS23, QRSL1, RGMA, RGMB, RNF123, RNF146, RWDD3, SAMHD1, SECISBP2, SEMA4F, SERBP1, SERP1, SH3BP5L, SLC25A24, SLC25A39, SLC37A3, SLC41A2, SLC6A16, SMC6, SPEF1, STMN2, TARDBP, TBC1D3, TBL2, TFIP11, TIGD6, TIMMDC1, TMEM117, TMEM186, TNB, TRAF7, TRAPPC8, TSC22D3, TSPAN14, TWF2, UBA5, UNC50, WDR24, WDR37, WDR91, WSB1, YIPF3, ZC3H13, ZMYND12, ZMYND15, ZRANB3
|
| Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
|
| Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A.
|
| Genome Res 11(3):422-35. 2001
|
11 | SAMHD1
|
| Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells.
|
| Li N, Zhang W, Cao X.
|
| Immunol Lett 74(3):221-4. No abstract available. 2000
|
12 | ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C19orf56, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3
|
| Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
|
| Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W.
|
| Genome Res 10(5):703-13. 2000
|