TULP1
قراءة متعمقة

Powles TJ، Rosset G، Leese CL، Bondy PK (1977). "Early morning hydroxyproline excretion in patients with breast cancer". Cancer. ج. 38 ع. 6: 2564–6. DOI:10.1002/1097-0142(197612)38:6<2564::AID-CNCR2820380648>3.0.CO;2-W. PMID:1000483.
Knowles JA، Shugart Y، Banerjee P، وآخرون (1995). "Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p". Hum. Mol. Genet. ج. 3 ع. 8: 1401–3. DOI:10.1093/hmg/3.8.1401. PMID:7987322.
Hagstrom SA، North MA، Nishina PL، وآخرون (1998). "Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa". Nat. Genet. ج. 18 ع. 2: 174–6. DOI:10.1038/ng0298-174. PMID:9462750.
Banerjee P، Kleyn PW، Knowles JA، وآخرون (1998). "TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa". Nat. Genet. ج. 18 ع. 2: 177–9. DOI:10.1038/ng0298-177. PMID:9462751.
Gu S، Lennon A، Li Y، وآخرون (1998). "Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa". Lancet. ج. 351 ع. 9109: 1103–4. DOI:10.1016/S0140-6736(05)79384-3. PMID:9660588.
Lewis CA، Batlle IR، Batlle KG، وآخرون (1999). "Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration". Invest. Ophthalmol. Vis. Sci. ج. 40 ع. 9: 2106–14. PMID:10440267.
Hagstrom SA، Duyao M، North MA، Li T (1999). "Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix". Invest. Ophthalmol. Vis. Sci. ج. 40 ع. 12: 2795–802. PMID:10549638.
Ikeda S، Shiva N، Ikeda A، وآخرون (2000). "Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene". Hum. Mol. Genet. ج. 9 ع. 2: 155–63. DOI:10.1093/hmg/9.2.155. PMID:10607826.
Hagstrom SA، Adamian M، Scimeca M، وآخرون (2001). "A role for the Tubby-like protein 1 in rhodopsin transport". Invest. Ophthalmol. Vis. Sci. ج. 42 ع. 9: 1955–62. PMID:11481257.
Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
Brandenberger R، Wei H، Zhang S، وآخرون (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. ج. 22 ع. 6: 707–16. DOI:10.1038/nbt971. PMID:15146197.
Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
Kondo H، Qin M، Mizota A، وآخرون (2005). "A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers". Invest. Ophthalmol. Vis. Sci. ج. 45 ع. 12: 4433–9. DOI:10.1167/iovs.04-0544. PMID:15557452.
Roni V، Carpio R، Wissinger B (2007). "Mapping of transcription start sites of human retina expressed genes". BMC Genomics. ج. 8: 42. DOI:10.1186/1471-2164-8-42. PMC:1802077. PMID:17286855.{{استشهاد بدورية محكمة}}:  صيانة الاستشهاد: دوي مجاني غير معلم (link)
den Hollander AI، van Lith-Verhoeven JJ، Arends ML، وآخرون (2007). "Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa". Arch. Ophthalmol. ج. 125 ع. 7: 932–5. DOI:10.1001/archopht.125.7.932. PMID:17620573.
Mataftsi A، Schorderet DF، Chachoua L، وآخرون (2007). "Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration". Invest. Ophthalmol. Vis. Sci. ج. 48 ع. 11: 5160–7. DOI:10.1167/iovs.06-1013. PMID:17962469.
Guo Y، Prokudin I، Yu C، وآخرون (2014). "Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis". Ophthalmic Genet.: 1–6. DOI:10.3109/13816810.2014.886269. PMID:24547928.
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معرفات كيميائية:  قاعدة بيانات التتابع المرجعي (RefSeq RNA): NM_001289395  
| ع ن جينات الكروموسوم 6 | ع ن جينات الكروموسوم 6 |
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جينات الكروموسوم 6:  TAF13  CDCA8  CFHR4  RWDD3  CRTC2  EBNA1BP2  KIFAP3  HNRPU  Peflin  VAMP4  S100A13  SEMA6C  MFSD2  FBXO2  CEP104  EIF3I  PDZK1IP1  SLAMF6  CLCN6  ELK4  Trichohyalin  PTBP2  PHC2  EPHA10  NFASC  FHL3  SSR2  CDKN2C  SLC9A11  LHX4  CCDC28B  RIT1  CFHR1  FOXE3  WNT3A  HIST3H3  MRPS21  APH-1  REG4  OR10K1  GJB5  IPO9  CLSPN  TOMM20  MCL1  ATF6  NBPF10  PFDN2  VAV3  LRRN2  ANGPTL3  ZCCHC17  TCTEX1D4  SCMH1  RABIF  CLCA2  NPHS2  CEP350  IVNS1ABP  H6PD  GBP1  SCYL3  VPS13D  EIF4G3  ZNF238  USH2A  CSMD2  ITGB3BP  Matrilin-1  TAL1  CLCNKB  GPSM2  HSPA7  RAP1A  MYCL1  SGIP1  HORMAD1  CYP4X1  CLCA1  INTS7  TSPAN2  SASS6  SESN2  RBBP5  ZNF593  LRRC39  MTX1  UTP11L  ZRANB2  Stratifin  TNFAIP8L2  APOBEC4  AP4B1  SH3GLB1  FCGR2A  ZZZ3  Calponin  TBX19  TACSTD2  PADI1  IPO13  EIF2B3  TEX35  HEATR1  FCN3  GJA4  ATPAF1  UBAP2L  CSRP1  SCP2  PLEKHA6  RERE  HAPLN2  YTHDF2  ALG14  HES3  NOS1AP  TBCE  EDARADD  SLC50A1  SLC45A3  EXTL1  S100A2  CLCC1  GNG4  NFIA  GLMN  LMX1A  VPS45  GATAD2B  SPRR1B  SCAMP3  SMCP  FCER1G  EXOC8  PRDM2  PLD5  CYP4Z1  HES5  CDC73  RBM8A  CD52  S100A16  CD5L  RAB3B  TAF12  RC3H1  TOMM40L  PLEKHG5  ATP1A2  BCL9  SYT6  MRPL55  SOX13  NUCKS1  WDR26  BNIPL  MED18  FCER1A  RAB7B  NDC1  WNT2B  SH2D2A  MDM4  TTF2  Opticin  PAQR7  CFHR5  SLC2A7  Consortin  S100A3  AMY1C  LGTN  CYP4B1  TRIM11  MTFR1L  HSPA6  RGS18  SF3A3  GJB3  GNL2  RRP15  Prokineticin  SH2D1B  GNG12  RCC2  AIM2  FLVCR1  ISG15  NOL9  KIF2C  PRELP  RNF220  ILF2  ARHGEF11  HAX1  Loricrin  RBP7  SMG5  ERMAP  SFRS11  HIST2H2BF  PRKAA2  SLC25A24  TMEM9  NECAP2  SPSB1  CTNNBIP1  INTS3  TXNDC12  DCLRE1B  TNFSF18  TOE1  MRPL20  GIPC2  KPNA6  SLC30A1  DNAJB4  KIF1B  SYT11  INSL5  MMACHC  SSX2IP  PSRC1  YY1AP1  LIX1L  INSRR  PEX11B  WDR3  ARL8A  GON4L  TCEB3  EXTL2  NCDN  ألفا-تاكسلن  MOSC2  GJB4  FBXO28  PNRC2  RCAN3  SFRS4  ZBTB48  PLXNA2  CCT3  CENPF  SPEN  KIF14  TRAPPC3  ARPC5  TRMT13  MMEL1  CAPN9  TROVE2  STX12  INTS11  NAV1  ZBTB7B  SNAPAP  ST3GAL3  UBXD5  FNBP1L  MRPL24  TDRKH 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EIF4A2  CLDN18  RNF7  PAQR9  ZBTB20  CSPG5  CEP63  PXK  TMEM22  TRANK1  CNBP  PCBP4  GNL3  PFN2  CEP97  TAGLN3  FXR1  RARRES1  WNT7A  EAF2  DCUN1D1  IFT57  MBNL1  EIF4E3  RIOX2  TFDP2  SLC41A3  ATG7  HESX1  FBLN2  CLDN11  OSTalpha  Fetuin-B  UPK1B  COX17  DVL3  TMEM44  EIF1B  SMARCAD1  NKX3-2  LSM6  INTS12  CSN1S1  FGFBP1  سينابتوبودين 2  TBC1D9  DKK2  CISD2  MEPE  CC2D2A  HNRPDL  UTP3  GUF1  ANTXR2  SDAD1  LDB2  PPP3CA  FAM198B  TLR10  DCHS2  DAPP1  PHOX2B  LCORL  FAT4  SPINK2  EMCN  HGFAC  TMPRSS11B  CLCN3  MRPL1  RAB33B  TBC1D1  PDS5A  STATH  ELF2  WDFY3  SHROOM3  FBXW7  FABP2  LYAR  TLL1  FAM47E-STBD1  TLR6  SEC31A  TMPRSS11F  MRFAP1  ING2  PCDH18  CYP4V2  KCNIP4  FBXL5  ANKRD17  أميلوبلاستين  SLC9B2  HOPX  MAB21L2  MFSD8  ZFYVE28  BBS7  SMARCA5  CEP135  AP1AR  SFRP2  RCHY1  HIP2  CXCL10  BBS12  PGRMC2  DCUN1D4  SPRY1  COPS4  ENAM  AFAP1  NKX6-1  CENTD1  LGI2  DUX4  SEPT11  MIR1269A  DMP1  NEIL3  CRMP1  MFSD7  Epiregulin  CENPC1  WDR1  ARFIP1  STAP1  H2AFZ  ATOH1  GPM6A  LETM1  CXCL13  MMAA  METTL14  YTHDC1  POU4F2  PCDH7  NCAPG  MLF1IP  CLDN22  MOBKL1A  THAP6  PSAPL1  PGDS  UBE1L2  Afamin  GRXCR1  EXOC1  TNIP2  Neurogenin-2  HSPA4L  LIMCH1  Calmegin  USO1  MXD4  LRIT3  HAUS3  RGS12  ZNF330  SMIM20  OTUD4  NUDT6  RBM47  KCTD8  HMGB2  HHIP  PABPC4L  UNC5C  APBB2  PCDH10  RASL11B  CSN2  LRBA  CCNG2  INPP4B  CYTL1  IRF2  GYPE  SPATA5  MSMO1  Nephronectin  NOA1  PLRG1  TACC3  WFS1  SLIT2  SEC24D  KIAA1530  SGCB  ADD1  S100P  FLT4  LEKTI  CLTB  WWC1  SPOCK1  NUDCD2  DCP2  PCDHB14  PROP1  TCF7  HMGXB3  FNIP1  KIF2A  MEGF10  MARVELD2  H2AFY  RUFY1  PCDHB3  YTHDC2  GFRA3  CENTD3  PCLKC  IRX2  TRIM23  IRX4  PCDHB4  PITX1  PCDHA3  FCHO2  GZMK  TLX3  AP3B1  SCGB3A2  SPRY4  UIMC1  BASP1  PCDHB5  IL31RA  RBM22  KIF20A  SFXN1  SEMA5A  JAKMIP2  FABP6  SFRS12  ZNF346  PDLIM7  SLC27A6  TRIP13  GZMA  FASTKD3  FOXI1  HNRNPA0  PCDH12  RAB3C  GPBP1  EXOC3  CPLX2  GM2A  PCDHB7  PFDN1  CDH9  ZNF300  ANKRD31  UBE2D2  FAM105B  PCDHA6  DIAPH1  PCDH1  MRPL22  CENPH  PCDHA4  DHX29  PCDHA2  UNC5A  REEP5  KCNIP1  ARL15  PWWP2A  WNT8A  LHFPL2  SLC6A18  TNFAIP8  FYB  CREBRF  LPCAT1  CDH12  PCDHB16  CXXC5  ANKH  BRD8  SAR1B  Beta-synuclein  NIPBL  HSD17B4  CCNG1  SLC25A24  WDR36  EDIL3  PCDHA9  POLR3G  PDZD2  IPO11  SIL1  NREP  EBF1  MZB1  CENPK  DCTN4  CDX1  TBCA  TRIM41  UTP15  SPINK1  SLU7  RASGRF2  GLRX  FBXO4  C5orf42  TTC1  SSBP2  PCDHB12  ATG10  SLC36A2  UBE2B  Neurogenin-1  SUB1  FBXL7  SNCAIP  SCGB3A1  FAM172A  SNX2  PDLIM4  PHAX  ZFYVE16  STK10  FAM114A2  PCDHA5  PCDHB11  RANBP3L  PCDHB2  MTMR12  SCAMP1  CLPTM1L  PAIP2  CDH6  EIF4E1B  SH3TC2  HINT1  MRPS30  HSPB3  SLIT3  DOK3  CD14  CRHBP  CDC23  SEMA6A  MOCS2  PPIP5K2  POU4F3  GTF2H2  SPEF2  ZBED3  TIMD4  FCHSD1  PPARGC1B  NDFIP1  HAPLN1  LMAN2  MAP1B  PCDHB15  CEP72  Delta-sarcoglycan  CDH10  RGS14  TINP1  FGF10  ADAMTS6  NSD1  ESM1  DNAH5  REEP2  NSUN2  ARHGAP26  RHOBTB3  KIF3A  LARP1  TGFBI  ABLIM3  MED10  ERAP2  TPPP  LYSMD3  STC2  RAI14  CNOT8  Calpastatin  UQCRQ  ATG12  PCDHB13  NOLA2  CEP120  CNOT6  BDP1  SNAG1  AGXT2  HNRPH1  SKIV2L2  PNRC1  RANBP9  HIST1H2BB  NOL7  TCF19  ELOVL5  HIST1H2BA  HSF2  FOXQ1  C4A  Thrombospondin-2  ZNF76  BTNL2  NDUFAF4  TCP11  CD2AP  VARS2  TSPYL1  Ezrin  PDSS2  TFAP2D  SASH1  MRPS18A  MTRF1L  HIST1H2BN  EFHC1  HEBP2  DCDC2  APOBEC2  RREB1  MYLIP  PACRG  PRICKLE4  FKBPL  AIM1  PBX2  HIVEP2  LCA5  HIST1H1T  DYNLT1  SSR1  EYA4  TRAM2  SOGA3  TINAG  KIF13A  PEX3  HIST1H2AD  UNC93A  SERPINB6  TFAP2B  PNISR  HLA-DPB1  MB21D1  HIST1H2AC  EPHA7  KLHDC3  RSPH9  Secretagogin  FAM46A  TAF8  HIST1H2BM  PLAGL1  SNX3  FGD2  TRAF3IP2  PERP  NFKBIE  HIST1H2AJ  REPS1  GFRAL  PHF1  CDKAL1  HIST1H1D  WASF1  KPNA5  SEC63  MRPL18  MRPS18B  HLA-DOA  RNGTT  TEAD3  E2F3  HIST1H2BL  KLC4  SERAC1  VPS52  TULP1  AHI1  KIAA1949  FRS3  GOPC  HIST1H4G  MYO6  HIST1H2BK  TFEB  HLA-DQA2  RIPOR2  VTA1  LMBRD1  ZNF452  NFYA  GJB7  NCOA7  FANCE  CLIC5  SERPINB1  HIST1H2AH  MTO1  TJAP1  Fibrocystin  SERPINB9  RGS17  IER3  ASF1A  PKIB  NRN1  KDM1B  TUBB2A  SYNCRIP  IMPG1  SERINC1  KIAA0319  RCAN2  TBPL1  OSTM1  EXOC2  SMOC2  GTF2H5  ECT2L  SOX4  TRERF1  MDN1  SMAP1  BTN3A3  HEY2  QKI  GCM2  TXNDC5  CUL7  CYP39A1  FOXP4  ETV7  SESN1  RSPH3  TLX  KAAG1  FBXO5  RDBP  RNF146  SLC26A8  ZNF193  METTL24  RSPH4A  HIST1H2AA  TXLNB  UNC5CL  NHLRC1  ZNF451  HIST1H2BH  STX7  FLOT1  ZNF318  PHF3  AIG1  GCM1  ELOVL4  POU3F2  Corneodesmosin  MOCS1  ACOT13  HIST1H2BO  HIST1H1A  TMEM242  C6orf10  HIVEP1  FBXL4  NRSN1  HIST1H4J  HIST1H2BD  GJA10  PHF10  POPDC3  SNAP91  ZDHHC14  ORC3  EPB41L2  SPDEF  MRAP2  SF3B5  SYNJ2  RSPO3  POLR1C  ZFP57  AKIRIN2  HMGN3  CDC40  GTF2H4  MMS22L  SNX9  FILIP1  RGL2  HLA-DRB1  STXBP5  MRS2L  MICAL1  BAG2  MDFI  TMEM200A  LST1  BAT4  PAQR8  TREML1  FHL5  FBXO9  C6orf89  MAD2L1BP  HIST1H1E  UBE2J1  DEF6  MAP7  TPD52L1  TTRAP  SFRS3  HIST1H1C  إم آي آر 4640  VNN2  PPP1R3G  BYSL  ASCC3  TUBE1  TRIM38  SLC17A3  HIST1H1B  HLA-DMA  EEF1E1  CITED2  LRRC16A  KCNK5  YIPF3  CASP8AP2  CLDN20  APOM  KIF6  RAB23  DOM3Z  HIST1H2BJ  LRP11  RFX6 
بوابة علم الأحياء الخلوي والجزيئي
بوابة طب
بوابة الكيمياء الحيوية
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التصنيفات الطبية:  دليل الوراثة المندلية عند البشر (OMIM): 602280  
المعرفات الخارجية:  Ensembl Transcript ID: ENST00000496434  نظام اللغة الطبية الموحدة (UMLS CUI): C1421241