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Index > Protein center > FAS(Gene name) > Human
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  • FAS (Gene name),
  • Tumor necrosis factor receptor superfamily member 6 (Protein name ),  TNR6_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Related Databases
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  • Gene name:
    FAS(APT1;FAS1;TNFRSF6);
    Protein name:
    Tumor necrosis factor receptor superfamily member 6;
    Alternative:
    FASLG receptor;Apo-1 antigen;Apoptosis-mediating surface antigen FAS;
    CD:
    CD95;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Binds DAXX. Interacts with HIPK3. Part of a complex containing HIPK3 and FADD (By similarity). Binds RIPK1 and FAIM2. Interacts with BRE and FEM1B. Interacts with FADD.
    Function:
    Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).
    Subcellular Location:
    Isoform 6 Secreted
    Protein Attributes:
    Sequence length:
    335
    Sequence:
    50:
    MLGIWTLLPL | VLTSVARLSS | KSVNAQVTDI | NSKGLELRKT | VTTVETQNLE | 
    100:
    GLHHDGQFCH | KPCPPGERKA | RDCTVNGDEP | DCVPCQEGKE | YTDKAHFSSK | 
    150:
    CRRCRLCDEG | HGLEVEINCT | RTQNTKCRCK | PNFFCNSTVC | EHCDPCTKCE | 
    200:
    HGIIKECTLT | SNTKCKEEGS | RSNLGWLCLL | LLPIPLIVWV | KRKEVQKTCR | 
    250:
    KHRKENQGSH | ESPTLNPETV | AINLSDVDLS | KYITTIAGVM | TLSQVKGFVR | 
    300:
    KNGVNEAKID | EIKNDNVQDT | AEQKVQLLRN | WHQLHGKKEA | YDTLIKDLKK | 
    335:
    ANLCTLAEKI | QTIILKDITS | DSENSNFRNE | IQSLV
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    Pfam:
    MIM:
    UniGene:
    SMR:
    String:
    KEGG:
    Uniprot:
     
    FOR
    ELISA Kit for Human Tumor necrosis factor receptor superfamily member 6
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    ELISA Kit for Human Tumor necrosis factor receptor superfamily member 6
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    E0030m
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    ELISA Kit for Human Tumor necrosis factor receptor superfamily member 6
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    ELISA Kit for Human Tumor necrosis factor receptor superfamily member 6
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    ELISA Kit for Human Tumor necrosis factor receptor superfamily member 6
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    E0030b
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    CLIA Kit for Human Tumor necrosis factor receptor superfamily member 6
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    U0030h
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    96T
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    CLIA Kit for Human Tumor necrosis factor receptor superfamily member 6
    Cat.:
    U0030m
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    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Tumor necrosis factor receptor superfamily member 6
    Cat.:
    U0030p
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Tumor necrosis factor receptor superfamily member 6
    Cat.:
    U0030r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Tumor necrosis factor receptor superfamily member 6
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    U0030b
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
    Polyclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
    Polyclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
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    P0030Rb-r
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
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    P0030Rb-m
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    Polyclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
    Cat.:
    P0030Rb-h
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
    Monoclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
    Monoclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
    Monoclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
    Monoclonal Antibody for Human Tumor necrosis factor receptor superfamily member 6
    Protein for Human Tumor necrosis factor receptor superfamily member 6
    Protein for Human Tumor necrosis factor receptor superfamily member 6
    Protein for Human Tumor necrosis factor receptor superfamily member 6
    Protein for Human Tumor necrosis factor receptor superfamily member 6
    Protein for Human Tumor necrosis factor receptor superfamily member 6

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    Linearity
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    References
    1. 1.
      "The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis."
      Itoh N. , Yonehara S. , Ishii A. , Yonehara M. , Mizushima S. , Sameshima M. , Hase A. , Seto Y. , Nagata S.
      Cell66:233-243(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    2. 2.
      "Purification and molecular cloning of the APO-1 cell surface antigen, a member of the tumor necrosis factor/nerve growth factor receptor superfamily. Sequence identity with the Fas antigen."
      Oehm A. , Behrmann I. , Falk W. , Pawlita M. , Maier G. , Klas C. , Li-Weber M. , Richards S. , Dhein J. , Trauth B.C. , Ponstingl H. , Krammer P.H.
      J. Biol. Chem.267:10709-10715(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);PROTEIN SEQUENCE OF 226-240; 269-291 AND 321-335
    3. 3.
      "Differential expression of human Fas mRNA species upon peripheral blood mononuclear cell activation."
      Liu C. , Cheng J. , Mountz J.D.
      Biochem. J.310:957-963(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 6);TISSUE SPECIFICITY
    4. 4.
      "Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing."
      Cascino I. , Fiucci G. , Papoff G. , Ruberti G.
      J. Immunol.154:2706-2713(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 6);FUNCTION
    5. 5.
      "Fas/Apo-1 (CD95) receptor lacking the intracytoplasmic signaling domain protects tumor cells from Fas-mediated apoptosis."
      Cascino I. , Papoff G. , De Maria R. , Testi R. , Ruberti G.
      J. Immunol.156:13-17(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7)
    6. 6.
      "An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants prevents cell death in vitro."
      Papoff G. , Cascino I. , Eramo A. , Starace G. , Lynch D.H. , Ruberti G.
      J. Immunol.156:4622-4630(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5)
    7. 7.
      "Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation."
      Del-Rey M.J. , Manzanares J. , Bosque A. , Aguilo J.I. , Gomez-Rial J. , Roldan E. , Serrano A. , Anel A. , Paz-Artal E. , Allende L.M.
      Immunobiology212:73-83(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT ALPS1A SER-262
    8. 8.
      Schaetzlein C.E. , Poehlmann R. , Philippsen P. , Eibel H.
      Submitted (1995-06) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5)
      tissue: Peripheral blood lymphocyte.
    9. 9.
      De La Calle-Martin O.
      Submitted (2008-10) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    10. 10.
      "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. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
    11. 11.
      NIEHS SNPs program
      Submitted (2003-10) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS THR-16; ILE-122 AND ILE-305
    12. 12.
      "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P. , Earthrowl M.E. , Grafham D.V. , Rubenfield M. , French L. , Steward C.A. , Sims S.K. , Jones M.C. , Searle S. , Scott C. , Howe K. , Hunt S.E. , Andrews T.D. , Gilbert J.G.R. , Swarbreck D. , Ashurst J.L. , Taylor A. , Battles J. , more...
      Nature429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    13. 13.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    14. 14.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
      tissue: Urinary bladder.
    15. 15.
      "RIP: a novel protein containing a death domain that interacts with Fas/APO-1 (CD95) in yeast and causes cell death."
      Stanger B.Z. , Leder P. , Lee T.-H. , Kim E. , Seed B.
      Cell81:513-523(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH RIPK1
    16. 16.
      "F1Aalpha, a death receptor-binding protein homologous to the Caenorhabditis elegans sex-determining protein, FEM-1, is a caspase substrate that mediates apoptosis."
      Chan S.-L. , Tan K.-O. , Zhang L. , Yee K.S.Y. , Ronca F. , Chan M.-Y. , Yu V.C.
      J. Biol. Chem.274:32461-32468(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH FEM1B
    17. 17.
      "LFG: an anti-apoptotic gene that provides protection from fas-mediated cell death."
      Somia N.V. , Schmitt M.J. , Vetter D.E. , Van Antwerp D. , Heinemann S.F. , Verma I.M.
      Proc. Natl. Acad. Sci. U.S.A.96:12667-12672(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH FAIM2
    18. 18.
      "An unappreciated role for RNA surveillance."
      Hillman R.T. , Green R.E. , Brenner S.E.
      Genome Biol.5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S)
    19. 19.
      "A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway."
      Li Q. , Ching A.K.-K. , Chan B.C.-L. , Chow S.K.-Y. , Lim P.-L. , Ho T.C.-Y. , Ip W.-K. , Wong C.-K. , Lam C.W.-K. , Lee K.K.-H. , Chan J.Y.-H. , Chui Y.-L.
      J. Biol. Chem.279:52106-52116(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH BRE
    20. 20.
      "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
      Mol. Cell31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    21. 21.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    22. 22.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-118
      tissue: Liver.
    23. 23.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH FADD
    24. 24.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    25. 25.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    26. 26.
      "Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD."
      Halim A. , Nilsson J. , Ruetschi U. , Hesse C. , Larson G.
      Mol. Cell. Proteomics0:0-0(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION AT THR-28;STRUCTURE OF CARBOHYDRATES;IDENTIFICATION BY MASS SPECTROMETRY
    27. 27.
      "NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain."
      Huang B. , Eberstadt M. , Olejniczak E.T. , Meadows R.P. , Fesik S.W.
      Nature384:638-641(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 218-335
    28. 28.
      "The Fas-FADD death domain complex structure unravels signalling by receptor clustering."
      Scott F.L. , Stec B. , Pop C. , Dobaczewska M.K. , Lee J.J. , Monosov E. , Robinson H. , Salvesen G.S. , Schwarzenbacher R. , Riedl S.J.
      Nature457:1019-1022(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.73 ANGSTROMS) OF 223-335 IN COMPLEX WITH FADD;FUNCTION;SUBUNIT;SUBCELLULAR LOCATION;MUTAGENESIS OF TYR-291 AND ILE-313
    29. 29.
      "Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome."
      Fisher G.H. , Rosenberg F.J. , Straus S.E. , Dale J.K. , Middleton L.A. , Lin A.Y. , Strober W. , Lenardo M.J. , Puck J.M.
      Cell81:935-946(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALPS1A PRO-241
    30. 30.
      "Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity."
      Drappa J. , Vaishnaw A.K. , Sullivan K.E. , Chu J.-L. , Elkon K.B.
      N. Engl. J. Med.335:1643-1649(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALPS1A TYR-260
    31. 31.
      "Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis."
      Bettinardi A. , Brugnoni D. , Quiros-Roldan E. , Malagoli A. , La Grutta S. , Correra A. , Notarangelo L.D.
      Blood89:902-909(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALPS1A TRP-121 AND CYS-232
    32. 32.
      "Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis."
      Sneller M.C. , Wang J. , Dale J.K. , Strober W. , Middelton L.A. , Choi Y. , Fleisher T.A. , Lim M.S. , Jaffe E.S. , Puck J.M. , Lenardo M.J. , Straus S.E.
      Blood89:1341-1348(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALPS1A ASP-257 AND SER-310
    33. 33.
      "Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis."
      Pensati L. , Costanzo A. , Ianni A. , Accapezzato D. , Iorio R. , Natoli G. , Nisini R. , Almerighi C. , Balsano C. , Vajro P. , Vegnente A. , Levrero M.
      Gastroenterology113:1384-1389(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALPS1A ALA-28
    34. 34.
      "Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity."
      Groenbaek K. , Straten P.T. , Ralfkiaer E. , Ahrenkiel V. , Andersen M.K. , Hansen N.E. , Zeuthen J. , Hou-Jensen K. , Guldberg P.
      Blood92:3018-3024(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NON-HODGKIN LYMPHOMA THR-25; PHE-180; LEU-183; ILE-198; VAL-260; LYS-264; LYS-272; PHE-278 AND ASN-299
    35. 35.
      "The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis."
      Infante A.J. , Britton H.A. , DeNapoli T. , Middelton L.A. , Lenardo M.J. , Jackson C.E. , Wang J. , Fleisher T. , Straus S.E. , Puck J.M.
      J. Pediatr.133:629-633(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALPS1A VAL-260
    36. 36.
      "Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance."
      Jackson C.E. , Fischer R.E. , Hsu A.P. , Anderson S.M. , Choi Y. , Wang J. , Dale J.K. , Fleisher T.A. , Middelton L.A. , Sneller M.C. , Lenardo M.J. , Straus S.E. , Puck J.M.
      Am. J. Hum. Genet.64:1002-1014(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALPS1A LYS-241 AND GLN-250
    37. 37.
      "Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations."
      Rieux-Laucat F. , Blachere S. , Danielan S. , De Villartay J.P. , Oleastro M. , Solary E. , Bader-Meunier B. , Arkwright P. , Pondare C. , Bernaudin F. , Chapel H. , Nielsen S. , Berrah M. , Fischer A. , Le Deist F.
      Blood94:2575-2582(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALPS1A LEU-249; PRO-250; ASP-253; SER-253; ARG-259; LYS-270 AND LYS-272
    38. 38.
      "Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease."
      Peters A.M. , Kohfink B. , Martin H. , Griesinger F. , Wormann B. , Gahr M. , Roesler J.
      Exp. Hematol.27:868-874(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALPS1A GLY-272
    39. 39.
      "The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations."
      Vaishnaw A.K. , Orlinick J.R. , Chu J.-L. , Krammer P.H. , Chao M.V. , Elkon K.B.
      J. Clin. Invest.103:355-363(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALPS1A ARG-82; PRO-250; GLY-260 AND ILE-270
    40. 40.
      "Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar."
      Lee S.H. , Shin M.S. , Kim H.S. , Park W.S. , Kim S.Y. , Jang J.J. , Rhim K.J. , Jang J. , Lee H.K. , Park J.Y. , Oh R.R. , Han S.Y. , Lee J.H. , Lee J.Y. , Yoo N.J.
      J. Invest. Dermatol.114:122-126(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SQUAMOUS CELL CARCINOMA SER-118; ARG-178 AND ASP-255
    41. 41.
      "The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis."
      Straus S.E. , Jaffe E.S. , Puck J.M. , Dale J.K. , Elkon K.B. , Roesen-Wolff A. , Peters A.M.J. , Sneller M.C. , Hallahan C.W. , Wang J. , Fischer R.E. , Jackson C.M. , Lin A.Y. , Baeumler C. , Siegert E. , Marx A. , Vaishnaw A.K. , Grodzicky T. , more...
      Blood98:194-200(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALPS1A PRO-241; VAL-260; ILE-270 AND GLY-272
    42. 42.
      "The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations."
      Wang L. , Yang J.K. , Kabaleeswaran V. , Rice A.J. , Cruz A.C. , Park A.Y. , Yin Q. , Damko E. , Jang S.B. , Raunser S. , Robinson C.V. , Siegel R.M. , Walz T. , Wu H.
      Nat. Struct. Mol. Biol.17:1324-1329(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS ALPS1A CYS-232; GLN-250; ASP-257; TYR-260; VAL-260; LYS-270 AND LYS-272;MUTAGENESIS OF ARG-250; GLU-261; GLN-283 AND LYS-287
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