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TNF receptor binding, altered

MedGen UID:
864852
Concept ID:
C4016415
Finding
Synonyms: TNF RECEPTOR BINDING, ALTERED
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 191160

Clinical features

Neoplasm
MedGen UID:
227011
Concept ID:
C1306459
Finding
A malignant tumor at the original site of growth.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Recent clinical studies

Etiology

Wallace AE, Whitley GS, Thilaganathan B, Cartwright JE
J Leukoc Biol 2015 Jan;97(1):79-86. Epub 2014 Nov 7 doi: 10.1189/jlb.2A0614-282R. PMID: 25381387Free PMC Article
O'Kane M, Markham T, McEvoy AN, Fearon U, Veale DJ, FitzGerald O, Kirby B, Murphy EP
J Invest Dermatol 2008 Feb;128(2):300-10. Epub 2007 Aug 2 doi: 10.1038/sj.jid.5701023. PMID: 17671512
Van Poznak C, Cross SS, Saggese M, Hudis C, Panageas KS, Norton L, Coleman RE, Holen I
J Clin Pathol 2006 Jan;59(1):56-63. doi: 10.1136/jcp.2005.026534. PMID: 16394281Free PMC Article
Fisher MJ, Virmani AK, Wu L, Aplenc R, Harper JC, Powell SM, Rebbeck TR, Sidransky D, Gazdar AF, El-Deiry WS
Clin Cancer Res 2001 Jun;7(6):1688-97. PMID: 11410508
Ertel W, Scholl FA, Gallati H, Bonaccio M, Schildberg FW, Trentz O
Arch Surg 1994 Dec;129(12):1330-6; discussion 1336-7. PMID: 7986165

Diagnosis

Wu YY, Chang YC, Hsu TL, Hsieh SL, Lai MZ
J Biol Chem 2004 Oct 15;279(42):44211-8. doi: 10.1074/jbc.408842200. PMID: 15475369
Wachter T, Sprick M, Hausmann D, Kerstan A, McPherson K, Stassi G, Bröcker EB, Walczak H, Leverkus M
J Biol Chem 2004 Dec 17;279(51):52824-34. Epub 2004 Sep 30 doi: 10.1074/jbc.M409554200. PMID: 15459191
Steff AM, Gagné D, Pagé M, Rioux A, Hugo P, Gosselin D
Am J Reprod Immunol 2004 Feb;51(2):166-73. PMID: 14748845
Zhu N, Ware CF, Lai MM
Virology 2001 May 10;283(2):178-87. doi: 10.1006/viro.2001.0896. PMID: 11336543
Bergqvist A, Söderbärg K, Magnusson G
J Virol 1997 Jan;71(1):276-83. PMID: 8985347Free PMC Article

Therapy

Varani K, Massara A, Vincenzi F, Tosi A, Padovan M, Trotta F, Borea PA
Arthritis Rheum 2009 Oct;60(10):2880-91. doi: 10.1002/art.24794. PMID: 19790066
Bastard JP, Caron M, Vidal H, Jan V, Auclair M, Vigouroux C, Luboinski J, Laville M, Maachi M, Girard PM, Rozenbaum W, Levan P, Capeau J
Lancet 2002 Mar 23;359(9311):1026-31. doi: 10.1016/S0140-6736(02)08094-7. PMID: 11937183
Cooney R, Kimball SR, Eckman R, Maish G 3rd, Shumate M, Vary TC
Am J Physiol 1999 Apr;276(4 Pt 1):E611-9. PMID: 10198295
Corcoran AE, Scallon BJ, Trinh H, Chernajovsky Y, Ghrayeb J, Feldmann M
Eur Cytokine Netw 1998 Sep;9(3):255-62. PMID: 9831174
Simms HH, D'Amico R
Crit Care Med 1992 Jan;20(1):11-6. PMID: 1309493

Prognosis

Moreaux J, Veyrune JL, De Vos J, Klein B
BMC Cancer 2009 Mar 16;9:83. doi: 10.1186/1471-2407-9-83. PMID: 19291294Free PMC Article
Müllauer L, Gruber P, Sebinger D, Buch J, Wohlfart S, Chott A
Mutat Res 2001 Jul;488(3):211-31. PMID: 11397650
Rathore VB, Advani SH, Nadkarni JJ
Cancer Detect Prev 1999;23(3):226-31. PMID: 10337001
Milting H, Bartling B, Schumann H, El-Banayosy A, Wlost S, Rüter F, Darmer D, Holtz J, Körfer R, Zerkowski HR
Thorac Cardiovasc Surg 1999 Feb;47(1):48-50. doi: 10.1055/s-2007-1013108. PMID: 10218621
Ertel W, Scholl FA, Gallati H, Bonaccio M, Schildberg FW, Trentz O
Arch Surg 1994 Dec;129(12):1330-6; discussion 1336-7. PMID: 7986165

Clinical prediction guides

Kociok N, Radetzky S, Krohne TU, Gavranic C, Joussen AM
Invest Ophthalmol Vis Sci 2006 Nov;47(11):5057-65. doi: 10.1167/iovs.06-0407. PMID: 17065527
Khoa ND, Postow M, Danielsson J, Cronstein BN
Mol Pharmacol 2006 Apr;69(4):1311-9. Epub 2005 Dec 29 doi: 10.1124/mol.105.016857. PMID: 16385076
Wu YY, Chang YC, Hsu TL, Hsieh SL, Lai MZ
J Biol Chem 2004 Oct 15;279(42):44211-8. doi: 10.1074/jbc.408842200. PMID: 15475369
Steff AM, Gagné D, Pagé M, Rioux A, Hugo P, Gosselin D
Am J Reprod Immunol 2004 Feb;51(2):166-73. PMID: 14748845
Debets R, Hegmans JP, Buurman WA, Benner R, Prens EP
Cytokine 1996 Jan;8(1):80-8. doi: 10.1006/cyto.1996.0011. PMID: 8742070

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