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Index > Protein center > TGFBR2(Gene name) > Human
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  • TGFBR2 (Gene name),
  • TGF-beta receptor type-2 (Protein name ),  TGFR2_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    TGFBR2;
    Protein name:
    TGF-beta receptor type-2(TGFR-2);
    Alternative:
    Transforming growth factor-beta receptor type II(TGF-beta receptor type II;TbetaR-II);TGF-beta type II receptor;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homodimer. Heterohexamer; TGFB1, TGFB2 and TGFB3 homodimeric ligands assemble a functional receptor composed of two TGFBR1 and TGFBR2 heterodimers to form a ligand-receptor heterohexamer. The respective affinity of TGFRB1 and TGFRB2 for the ligands may modulate the kinetics of assembly of the receptor and may explain the different biological activities of TGFB1, TGFB2 and TGFB3. Interacts with DAXX. Interacts with TCTEX1D4. Interacts with ZFYVE9; ZFYVE9 recruits SMAD2 and SMAD3 to the TGF-beta receptor.
    Function:
    Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways.
    Subcellular Location:
    Cell membrane Single-pass type I membrane protein
    Protein Attributes:
    Sequence length:
    567
    Sequence:
    50:
    MGRGLLRGLW | PLHIVLWTRI | ASTIPPHVQK | SVNNDMIVTD | NNGAVKFPQL | 
    100:
    CKFCDVRFST | CDNQKSCMSN | CSITSICEKP | QEVCVAVWRK | NDENITLETV | 
    150:
    CHDPKLPYHD | FILEDAASPK | CIMKEKKKPG | ETFFMCSCSS | DECNDNIIFS | 
    200:
    EEYNTSNPDL | LLVIFQVTGI | SLLPPLGVAI | SVIIIFYCYR | VNRQQKLSST | 
    250:
    WETGKTRKLM | EFSEHCAIIL | EDDRSDISST | CANNINHNTE | LLPIELDTLV | 
    300:
    GKGRFAEVYK | AKLKQNTSEQ | FETVAVKIFP | YEEYASWKTE | KDIFSDINLK | 
    350:
    HENILQFLTA | EERKTELGKQ | YWLITAFHAK | GNLQEYLTRH | VISWEDLRKL | 
    400:
    GSSLARGIAH | LHSDHTPCGR | PKMPIVHRDL | KSSNILVKND | LTCCLCDFGL | 
    450:
    SLRLDPTLSV | DDLANSGQVG | TARYMAPEVL | ESRMNLENVE | SFKQTDVYSM | 
    500:
    ALVLWEMTSR | CNAVGEVKDY | EPPFGSKVRE | HPCVESMKDN | VLRDRGRPEI | 
    550:
    PSFWLNHQGI | QMVCETLTEC | WDHDPEARLT | AQCVAERFSE | LEHLDRLSGR | 
    567:
    SCSEEKIPED | GSLNTTK
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    SMR:
    KEGG:
    String:
    UniGene:
    Pfam:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human TGFR-2
    Cat.:
    E9935h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human TGFR-2
    Cat.:
    E9935m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human TGFR-2
    MSDS:
    Please sign in first.
    ELISA Kit for Human TGFR-2
    Cat.:
    E9935r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human TGFR-2
    MSDS:
    Please sign in first.
    CLIA Kit for Human TGFR-2
    MSDS:
    Please sign in first.
    CLIA Kit for Human TGFR-2
    Cat.:
    U9935m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human TGFR-2
    Cat.:
    U9935h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human TGFR-2
    MSDS:
    Please sign in first.
    CLIA Kit for Human TGFR-2
    Cat.:
    U9935r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human TGFR-2
    Cat.:
    P9935Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human TGFR-2
    Polyclonal Antibody for Human TGFR-2
    Polyclonal Antibody for Human TGFR-2
    Polyclonal Antibody for Human TGFR-2
    Cat.:
    P9935Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human TGFR-2
    Monoclonal Antibody for Human TGFR-2
    Monoclonal Antibody for Human TGFR-2
    Monoclonal Antibody for Human TGFR-2
    Monoclonal Antibody for Human TGFR-2
    Protein for Human TGFR-2
    Protein for Human TGFR-2
    Protein for Human TGFR-2
    Protein for Human TGFR-2
    Protein for Human TGFR-2

    R&D Technical Data

    s

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    Precision

    Intra-assay Precision (Precision within an assay):Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.

    Intra-Assay CV: ≤3.9%

    Inter-assay Precision (Precision between assays):Three samples of known concentration were tested in five separate assays to assess inter-assay precision.

    Inter-Assay CV: ≤7.7%

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    Recovery

    Recovery was determined by spiking various levels of ACE into serum and plasma .

    Sample Type

    Average(%)

    Recovery Range(%)

    Serum

    99

    91-103

    Plasma

    98

    93-106

     

     

     

     

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    Linearity

     

    The linearity of the kit was assayed by testing samples spiked with appropriate concentration of ACE and their serial dilutions. The results were demonstrated by the percentage of calculated concentration to the expected.  

     

    Sample

    1:2

    1:4

    1:8

    1:16

    serum(n=5)

    92-105%

    90-101%

    95-105%

    92-109%

    EDTA plasma(n=5)

    89-95%

    93105%

    89-94%

    90-106%

    heparin plasma(n=5)

    93-104%

     

    94-110%

    101-111%

    91-110%

     

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    References
    1. 1.
      "Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase."
      Lin H.Y. , Wang X.-F. , Ng-Eaton E. , Weinberg R.A. , Lodish H.F.
      Cell68:775-785(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);VARIANT ALA-439;SUBCELLULAR LOCATION
      tissue: Liver.
    2. 2.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    3. 3.
      "A cDNA encoding the human transforming growth factor beta receptor suppresses the growth defect of a yeast mutant."
      Nikawa J.
      Gene149:367-372(1994) [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 2)
      tissue: Glial cell.
    4. 4.
      "The genomic structure of the gene encoding the human transforming growth factor beta type II receptor (TGF-beta RII)."
      Takenoshita S. , Hagiwara K. , Nagashima M. , Gemma A. , Bennett W.P. , Harris C.C.
      Genomics36:341-344(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 [GENOMIC DNA] (ISOFORM 1);VARIANT ALA-439
    5. 5.
      "Genomic structure of the transforming growth factor beta type II receptor gene and its mutations in hereditary nonpolyposis colorectal cancers."
      Lu S.-L. , Zhang W.C. , Akiyama Y. , Nomizu T. , Yuasa Y.
      Cancer Res.56:4595-4598(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 [GENOMIC DNA] (ISOFORM 1);VARIANT ALA-439
    6. 6.
      "Cloning of a cDNA encoding the human transforming growth factor-beta type II receptor: heterogeneity of the mRNA."
      Ogasa H. , Noma T. , Murata H. , Kawai S. , Nakazawa A.
      Gene181:185-190(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 1);VARIANT ALA-439
      tissue: Liver.
    7. 7.
      NIEHS SNPs program
      Submitted (2004-07) 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];VARIANT VAL-36
    8. 8.
      "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 2)
      tissue: Placenta.
    9. 9.
      [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]
    10. 10.
      "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z. , Henzel W.J.
      Protein Sci.13:2819-2824(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: PROTEIN SEQUENCE OF 23-37
    11. 11.
      "GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex."
      Wieser R. , Wrana J.L. , Massague J.
      EMBO J.14:2199-2208(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: FUNCTION IN PHOSPHORYLATION OF TGFBR1
    12. 12.
      "SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor."
      Tsukazaki T. , Chiang T.A. , Davison A.F. , Attisano L. , Wrana J.L.
      Cell95:779-791(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: INTERACTION WITH ZFYVE9
    13. 13.
      "Oligomeric structure of type I and type II transforming growth factor beta receptors: homodimers form in the ER and persist at the plasma membrane."
      Gilboa L. , Wells R.G. , Lodish H.F. , Henis Y.I.
      J. Cell Biol.140:767-777(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: HOMODIMERIZATION
    14. 14.
      "TGF-beta-induced apoptosis is mediated by the adapter protein Daxx that facilitates JNK activation."
      Perlman R. , Schiemann W.P. , Brooks M.W. , Lodish H.F. , Weinberg R.A.
      Nat. Cell Biol.3:708-714(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: INTERACTION WITH DAXX;MUTAGENESIS OF LYS-277
    15. 15.
      "TLP, a novel modulator of TGF-beta signaling, has opposite effects on Smad2- and Smad3-dependent signaling."
      Felici A. , Wurthner J.U. , Parks W.T. , Giam L.R. , Reiss M. , Karpova T.S. , McNally J.G. , Roberts A.B.
      EMBO J.22:4465-4477(2003) [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 VPS39
    16. 16.
      "Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors."
      Meng Q.-J. , Lux A. , Holloschi A. , Li J. , Hughes J.M.X. , Foerg T. , McCarthy J.E.G. , Heagerty A.M. , Kioschis P. , Hafner M. , Garland J.M.
      J. Biol. Chem.281:37069-37080(2006) [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 TCTEX1D4
    17. 17.
      "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-548;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    18. 18.
      [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]
    19. 19.
      "SCUBE3 is an endogenous TGF-beta receptor ligand and regulates the epithelial-mesenchymal transition in lung cancer."
      Wu Y.Y. , Peck K. , Chang Y.L. , Pan S.H. , Cheng Y.F. , Lin J.C. , Yang R.B. , Hong T.M. , Yang P.C.
      Oncogene30:3682-3693(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: INTERACTION WITH SCUBE3
    20. 20.
      "Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex."
      Hart P.J. , Deep S. , Taylor A.B. , Shu Z. , Hinck C.S. , Hinck A.P.
      Nat. Struct. Biol.9:203-208(2002) [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 (2.15 ANGSTROMS) OF 38-159 IN COMPLEX WITH TGF-BETA3
    21. 21.
      "The 1.1 A crystal structure of human TGF-beta type II receptor ligand binding domain."
      Boesen C.C. , Radaev S. , Motyka S.A. , Patamawenu A. , Sun P.D.
      Structure10:913-919(2002) [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 (1.05 ANGSTROMS) OF 49-159
    22. 22.
      "Solution structure and backbone dynamics of the TGFbeta type II receptor extracellular domain."
      Deep S. , Walker K.P. III , Shu Z. , Hinck A.P.
      Biochemistry42:10126-10139(2003) [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 38-159
    23. 23.
      "Cooperative assembly of TGF-beta superfamily signaling complexes is mediated by two disparate mechanisms and distinct modes of receptor binding."
      Groppe J. , Hinck C.S. , Samavarchi-Tehrani P. , Zubieta C. , Schuermann J.P. , Taylor A.B. , Schwarz P.M. , Wrana J.L. , Hinck A.P.
      Mol. Cell29:157-168(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: X-RAY CRYSTALLOGRAPHY (3.00 ANGSTROMS) OF 43-149 IN COMPLEX WITH TGFBR1 AND TGFB3;DISULFIDE BONDS
    24. 24.
      "Ternary complex of transforming growth factor-beta1 reveals isoform-specific ligand recognition and receptor recruitment in the superfamily."
      Radaev S. , Zou Z. , Huang T. , Lafer E.M. , Hinck A.P. , Sun P.D.
      J. Biol. Chem.285:14806-14814(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: X-RAY CRYSTALLOGRAPHY (3.00 ANGSTROMS) OF 38-153 IN COMPLEX WITH TGFBR1 AND TGFB1;RECEPTOR AFFINITY FOR LIGANDS;DISULFIDE BONDS
    25. 25.
      "HNPCC associated with germline mutation in the TGF-beta type II receptor gene."
      Lu S.-L. , Kawabata M. , Imamura T. , Akiyama Y. , Nomizu T. , Miyazono K. , Yuasa Y.
      Nat. Genet.19:17-18(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 HNPCC6 MET-315
    26. 26.
      "A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma."
      Tanaka S. , Mori M. , Mafune K. , Ohno S. , Sugimachi K.
      Br. J. Cancer82:1557-1560(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: VARIANT ESOPHAGEAL CANCER GLN-526
    27. 27.
      "Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer."
      Luecke C.D. , Philpott A. , Metcalfe J.C. , Thompson A.M. , Hughes-Davies L. , Kemp P.R. , Hesketh R.
      Cancer Res.61:482-485(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 BREAST TUMOR MET-387; SER-435; ALA-447 AND MET-452;CHARACTERIZATION OF VARIANTS BREAST TUMOR SER-435; ALA-447 AND MET-452
    28. 28.
      "A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway."
      Watanabe Y. , Kinoshita A. , Yamada T. , Ohta T. , Kishino T. , Matsumoto N. , Ishikawa M. , Niikawa N. , Yoshiura K.
      J. Hum. Genet.47:478-483(2002) [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 ILE-191
    29. 29.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LDS2 PRO-308; PHE-449 AND CYS-537;CHARACTERIZATION OF VARIANTS LDS2 PRO-308; PHE-449 AND CYS-537
    30. 30.
      "Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections."
      Pannu H. , Fadulu V.T. , Chang J. , Lafont A. , Hasham S.N. , Sparks E. , Giampietro P.F. , Zaleski C. , Estrera A.L. , Safi H.J. , Shete S. , Willing M.C. , Raman C.S. , Milewicz D.M.
      Circulation112:513-520(2005) [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 LDS2 CYS-460 AND HIS-460
    31. 31.
      "A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2."
      Loeys B.L. , Chen J. , Neptune E.R. , Judge D.P. , Podowski M. , Holm T. , Meyers J. , Leitch C.C. , Katsanis N. , Sharifi N. , Xu F.L. , Myers L.A. , Spevak P.J. , Cameron D.E. , De Backer J.F. , Hellemans J. , Chen Y. , Davis E.C. , more...
      Nat. Genet.37:275-281(2005) [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 LDS2 ASN-336; PRO-355; TRP-357; HIS-528 AND CYS-528
    32. 32.
      "Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects."
      Disabella E. , Grasso M. , Marziliano N. , Ansaldi S. , Lucchelli C. , Porcu E. , Tagliani M. , Pilotto A. , Diegoli M. , Lanzarini L. , Malattia C. , Pelliccia A. , Ficcadenti A. , Gabrielli O. , Arbustini E.
      Eur. J. Hum. Genet.14:34-38(2006) [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 LDS2 ASN-446
    33. 33.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-73 AND HIS-528
    34. 35.
      "Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients."
      Drera B. , Ritelli M. , Zoppi N. , Wischmeijer A. , Gnoli M. , Fattori R. , Calzavara-Pinton P.G. , Barlati S. , Colombi M.
      Orphanet J. Rare Dis.4:24-24(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: VARIANT LDS2 SER-510
    35. 36.
      "Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B."
      Muramatsu Y. , Kosho T. , Magota M. , Yokotsuka T. , Ito M. , Yasuda A. , Kito O. , Suzuki C. , Nagata Y. , Kawai S. , Ikoma M. , Hatano T. , Nakayama M. , Kawamura R. , Wakui K. , Morisaki H. , Morisaki T. , Fukushima Y.
      Am. J. Med. Genet. A152:417-421(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: VARIANT LDS2 LYS-457
    36. 37.
      "Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome."
      Kirmani S. , Tebben P.J. , Lteif A.N. , Gordon D. , Clarke B.L. , Hefferan T.E. , Yaszemski M.J. , McGrann P.S. , Lindor N.M. , Ellison J.W.
      Am. J. Med. Genet. A152:1016-1019(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: VARIANTS LDS2 PRO-308 AND ARG-521
    37. 38.
      "Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome."
      Yang J.H. , Ki C.S. , Han H. , Song B.G. , Jang S.Y. , Chung T.Y. , Sung K. , Lee H.J. , Kim D.K.
      J. Hum. Genet.57:52-56(2012) [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 LDS2 GLN-306 DELINS HIS-GLU; ARG-377; PHE-449 AND ARG-514
    38. 39.
      "A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene."
      Ha J.S. , Kim Y.H.
      Korean J. Pediatr.54:272-275(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: VARIANTS LDS2 VAL-509 AND PHE-510
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