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Gene Review

COHEN1  -  Cohen syndrome QTL 1

Homo sapiens

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Disease relevance of COHEN1


Psychiatry related information on COHEN1

  • An intent-to-treat analysis (n = 168) confirmed significant differences between treatment and control groups for nightmares, sleep, and PTSD (all P<.02) with moderate effect sizes for treatment (mean Cohen d = 0.60) and small effect sizes for controls (mean Cohen d = 0.14) [6].
  • Declarative memory relies on a medial temporal lobe system, whereas habit learning relies on the striatum [Cohen, N. J. & Eichenbaum, H. (1993) Memory, Amnesia, and the Hippocampal System (MIT Press, Cambridge, MA)] [7].
  • Further empirical evidence is presented that suggests that the influence of increasing response set size in Stroop task performance is to increase the difference between overall color naming and word reading, which is in direct opposition to the decrease produced by the Cohen et al. architecture [8].
  • We evaluated 3 diagnostic criteria sets for AD: the American Psychiatric Association diagnostic criteria from the Diagnostic and Statistical Manual (DSM-III), the NINCDS-ADRDA Work Group criteria for the diagnosis of Alzheimer's disease (NINCDS), and the Eisdorfer and Cohen research diagnostic criteria for primary neuronal degeneration (ECRDC) [9].
  • Reliabilities for the diagnostic categories were established using the Cohen kappa, and the subgroups of individuals with and without ADHD and conduct disorder were compared [10].

High impact information on COHEN1

  • Our results provide a tool to a more accurate definition of Cohen syndrome(s) and a starting point for the positional cloning of CHS1 [11].
  • The initial observations of Stanley Cohen in the 1960s established that EGF induced in vivo effects such as precocious eyelid opening and tooth eruption [12].
  • Here, John Cohen describes the changes of apoptosis, and discusses progress on the identification of regulatory mechanisms and genes [13].
  • Here, Irun Cohen argues that the clonal selection paradigm is no longer a convenient paradigm for organizing thinking about the immune system [14].
  • In last month's issue of Immunology Today, Irun Cohen discussed the inadequacies of the clonal selection paradigm and proposed a cognitive paradigm in which preformed internal images guide and restrict the process of clonal activation [15].

Chemical compound and disease context of COHEN1

  • Epidermal growth factor stimulates a cyclic AMP-independent protein kinase associated with membrane vesicles derived from human epidermoid carcinoma cells (Carpenter, G., King, L., Jr., and Cohen, S. (1979) J. Biol. Chem. 254,. 4884-4891) [16].
  • Prospective studies of Israeli armed forces recruits show a correlation between preexisting serum immunoglobulin G (IgG) LPS antibodies and resistance to shigellosis (D. Cohen, M. S. Green, C. Block, R. Slephon, and I. Ofek, J. Clin. Microbiol. 29:386-389, 1991) [17].
  • Reply to the Letter to the Editor on "Third generation aromatase inhibitors may prevent endometrial growth and reverse tamoxifen-induced uterine changes in postmenopausal breast cancer patients", by I. Cohen Ann Oncol 2005; 16: 1399 [18].
  • These claims are highlighted in the CNS by the recent finding that tissue concentrations of cysteine approach 700 microM in settings of cerebral ischemia (Slivka and Cohen, 1993); these levels of thiol would be expected to influence the redox state of the NO group [19].
  • Other studies have shown that changes of this type are produced by doses of hypolipidaemic agents that induce liver cancer in rodents (Cohen & Grasso, 1981) and our investigations have indicated that they were also prominent at dose levels of DEHP similar to those that induced liver cancer in the NCI study (National Toxicology Program, 1982) [20].

Biological context of COHEN1

  • The Finnish Cohen patients are clinically highly homogeneous, their disease gene being located on chromosome 8 [21].
  • Nevertheless, as Irun Cohen and Douglas Young point out, such notions of nonreactivity cannot explain certain key features of immune behaviour: the immunological dominance of microbial antigens that mimic self, the uniformity of autoimmune diseases and the prevalence of natural autoimmunity among the healthy [22].
  • Y chromosomes traveling south: the cohen modal haplotype and the origins of the Lemba--the "Black Jews of Southern Africa" [23].
  • Amino acids that contribute to the binding site for [(125)I]TID in the ion channel have been identified in both the resting and desensitized state of the AChR (White, B.H., and Cohen, J.B. (1992) J [24].
  • These homologous sequence motifs have been proposed to form domains with a triple-helical bundle type structure (Speicher, D. W., and Marchesi, V. T. (1984) Nature 311, 177-180; Parry, D. A. D., Dixon, T. W., and Cohen, C. (1992) Biophys. J. 61, 858-867) [25].

Anatomical context of COHEN1

  • Cohen neutrophils exhibited a greater adhesive capability than control leukocytes in all the conditions studied (PB or SW, unstimulated or agonist-stimulated leukocytes) [26].
  • It was previously shown (Cohen, F. S., J. Zimmerberg, and A. Finkelstein, 1980, J. Gen. Physiol., 75:251-270) that multilamellar phospholipid vesicles can fuse with decane-containing phospholipid bilayer membranes [27].
  • The biochemical properties of the liver receptor are very similar to those of the EGF receptor previously prepared from the human tumor cell line A-431 [Cohen, S., Ushiro, H., Stoscheck, C. & Chinkers, M. (1982) J. Biol. Chem. 257, 1523-1531] [28].
  • Excellent agreement with the measured orifice of the mitral valve was obtained using a value of 37.9 (0.85 X 44.5) for the constant in the Gorlin formula as recommended by Cohen and Gorlin [29].
  • The characteristic morphological and physiological stability of the MGI is lost: the dendritic arborization has been shown previously to be altered by extensive new outgrowth (Roederer, E., and M. J. Cohen (1983) J. Neurosci. 3: 1835-1847); there is a transient increase in soma membrane excitability, and new cytoplasmic organelles are induced [30].

Associations of COHEN1 with chemical compounds

  • The cloning and sequence determination of cDNAs encoding different types of serine/threonine protein phosphatases has provided a molecular basis for the protein phosphatase classification proposed by Ingebritsen and Cohen [31].
  • We have previously reported the isolation of a 35-kDa protein from A-431 cells that, in the presence of Ca2+, can serve as a substrate for the epidermal growth factor (EGF) receptor/tyrosine kinase (Fava, R.A., and Cohen, S. (1984) J. Biol. Chem. 259, 2636-2645) [32].
  • These results combined with our previous studies of intracellular ATP catabolism (Barankiewicz, J., and Cohen, A. (1984) J. Biol. Chem. 259, 15178-15181) provide evidence that extracellular ATP catabolism may represent exclusive source for adenosine in lymphocytes [33].
  • These epsilonPKC-selective peptides were also protective of the myocardium from ischemic injury, an epsilonPKC-dependent function (Liu, G. S., Cohen, M. V., Mochly-Rosen, D., and Downey, J. M. (1999) J. Mol. Cell. Cardiol. 31, 1937-1948), and caused selective translocation of epsilonPKC over other isozymes when injected systemically into mice [34].
  • [3H]Meproadifen mustard, an affinity label for the noncompetitive antagonist site of the nicotinic acetylcholine receptor (AChR), specifically alkylates the AChR alpha-subunit when the acetylcholine-binding sites are occupied by agonist (Dreyer, E. B., Hasan, F., Cohen, S. G., and Cohen, J. B. (1986) J. Biol. Chem. 261, 13727-13734) [35].

Regulatory relationships of COHEN1


Other interactions of COHEN1

  • We reported previously that the induced differentiation of the myelomonocytic cell line U937 by vitamin D3 is facilitated by the transcriptional induction of the p21(WAF1/CIP1) gene by the vitamin D3 receptor (Liu, M., Lee, M.-H., Cohen, M., and Freedman, L. P. (1996) Genes Dev. 10, 143-153) [38].
  • Although the tyrosine kinase activity of the EGF receptor is rapidly inactivated at 45 degrees C in vitro [Carpenter, King & Cohen (1979) J. Biol. Chem. 254, 4884-4891], EGF stimulates autophosphorylation of its receptor in both A-431 cells and human fibroblasts after a prolonged heat shock [39].
  • We previously characterized a functional origin of DNA replication at the transcriptional promoter of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene (Cohen et al. [2002] J. Cell. Biochem. 85:346-356) [40].
  • GSK-3 beta is phosphorylated in vitro at serine 9 by p70 S6 kinase and p90rsk-1, resulting in its inhibition [Sutherland, Leighton, and Cohen (1993) Biochem. J. 296, 15-19] [41].
  • While human SLUG has been mapped to 8q (Cohen, M.E., Yin, M., Paznekas, W.A., Schertzer, M., Wood, S., Jabs, E.W., 1998. Human SLUG organisation, expression and chromosome map location on 8q. Genomics 51, 468-471), the human sna gene SNA, was previously unmapped [42].

Analytical, diagnostic and therapeutic context of COHEN1

  • Two recent studies by Piazza et al. and Cohen Kadosh et al. published in this issue of Neuron used fMRI adaptation to explore the extent to which parietal number processing is dependent upon or independent of a numbers' surface format [43].
  • In the previous paper (Hall and Cohen, 1988), we showed that axotomy of anterior bulbar cells (ABCs) in the hindbrain of the larval lamprey results in the sprouting of axonlike neurites from either the end of the proximal axon stump, the dendritic tips, or both, depending on the site of axotomy [44].
  • Site-directed mutagenesis showed that the presence of a truncation in the cytoplasmic tail of the ROD14 envelope was not responsible for the lack of activity, as previously reported for the HIV-2 ST isolate (G. D. Ritter, Jr., G. Yamshchikov, S. J. Cohen, and M. J. Mulligan, J. Virol. 70:2669-2673, 1996) [45].
  • The determination of the 3-D structure of the KcsA channel using X-ray crystallography (Doyle, D.A., J.M. Cabral, R.A. Pfuetzner, A. Kuo, J.M. Gulbis, S.L. Cohen, B.T. Chait, and R. MacKinnon. 1998. Science. 280:69-77) has raised some issues that remain currently unresolved concerning the interpretation of these observations [46].
  • We used microelectrodes to determine whether the K/HCO3 cotransporter tentatively identified in the accompanying paper (Hogan, E. M., M. A. Cohen, and W. F. Boron. 1995. Journal of General Physiology. 106:821-844) can mediate an increase in the intracellular pH (pHi) of squid giant axons [47].


  1. Confirmation of the Cohen syndrome. Carey, J.C., Hall, B.D. J. Pediatr. (1978) [Pubmed]
  2. Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus. Kondo, I., Hamabe, J., Yamamoto, K., Niikawa, N. Clin. Genet. (1990) [Pubmed]
  3. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. Kivitie-Kallio, S., Autti, T., Salonen, O., Norio, R. Neuropediatrics. (1998) [Pubmed]
  4. Landmark article Oct 19, 1964: Suppression of plasma renin activity in primary aldosteronism. Distinguishing primary from secondary aldosteronism in hypertensive disease. By Jerome W. Conn, Edwin L. Cohen and David R. Rovner. Conn, J.W., Cohen, E.L., Rovner, D.R. JAMA (1985) [Pubmed]
  5. Distinct endocytotic pathways in epidermal growth factor-stimulated human carcinoma A431 cells. West, M.A., Bretscher, M.S., Watts, C. J. Cell Biol. (1989) [Pubmed]
  6. Imagery rehearsal therapy for chronic nightmares in sexual assault survivors with posttraumatic stress disorder: a randomized controlled trial. Krakow, B., Hollifield, M., Johnston, L., Koss, M., Schrader, R., Warner, T.D., Tandberg, D., Lauriello, J., McBride, L., Cutchen, L., Cheng, D., Emmons, S., Germain, A., Melendrez, D., Sandoval, D., Prince, H. JAMA (2001) [Pubmed]
  7. Modulation of competing memory systems by distraction. Foerde, K., Knowlton, B.J., Poldrack, R.A. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  8. Explorations of Cohen, Dunbar, and McClelland's (1990) connectionist model of Stroop performance. Kanne, S.M., Balota, D.A., Spieler, D.H., Faust, M.E. Psychological review. (1998) [Pubmed]
  9. The validity of 3 clinical diagnostic criteria for Alzheimer's disease. Kukull, W.A., Larson, E.B., Reifler, B.V., Lampe, T.H., Yerby, M.S., Hughes, J.P. Neurology (1990) [Pubmed]
  10. Prevalence of attention-deficit/hyperactivity disorder and conduct disorder among substance abusers. Schubiner, H., Tzelepis, A., Milberger, S., Lockhart, N., Kruger, M., Kelley, B.J., Schoener, E.P. The Journal of clinical psychiatry. (2000) [Pubmed]
  11. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., de la Chapelle, A. Nat. Genet. (1994) [Pubmed]
  12. Metabolism and effects of epidermal growth factor and related growth factors in mammals. Fisher, D.A., Lakshmanan, J. Endocr. Rev. (1990) [Pubmed]
  13. Apoptosis. Cohen, J.J. Immunol. Today (1993) [Pubmed]
  14. The cognitive principle challenges clonal selection. Cohen, I.R. Immunol. Today (1992) [Pubmed]
  15. The cognitive paradigm and the immunological homunculus. Cohen, I.R. Immunol. Today (1992) [Pubmed]
  16. Phosphotyrosyl-protein phosphatase. Specific inhibition by Zn. Brautigan, D.L., Bornstein, P., Gallis, B. J. Biol. Chem. (1981) [Pubmed]
  17. Preparation, characterization, and immunogenicity of conjugates composed of the O-specific polysaccharide of Shigella dysenteriae type 1 (Shiga's bacillus) bound to tetanus toxoid. Chu, C.Y., Liu, B.K., Watson, D., Szu, S.S., Bryla, D., Shiloach, J., Schneerson, R., Robbins, J.B. Infect. Immun. (1991) [Pubmed]
  18. Reply to the Letter to the Editor on "Third generation aromatase inhibitors may prevent endometrial growth and reverse tamoxifen-induced uterine changes in postmenopausal breast cancer patients", by I. Cohen Ann Oncol 2005; 16: 1399. Paridaens, R., Morales, L., Neven, P., Timmerman, D. Ann. Oncol. (2005) [Pubmed]
  19. Nitric oxide in the central nervous system. Lipton, S.A., Singel, D.J., Stamler, J.S. Prog. Brain Res. (1994) [Pubmed]
  20. Genotoxicity studies on di-(2-ethylhexyl) phthalate and adipate and toxicity studies on di-(2-ethylhexyl) phthalate in the rat and marmoset. Jäckh, R., Rhodes, C., Grasso, P., Carter, J.T. Food Chem. Toxicol. (1984) [Pubmed]
  21. Cohen syndrome: essential features, natural history, and heterogeneity. Kivitie-Kallio, S., Norio, R. Am. J. Med. Genet. (2001) [Pubmed]
  22. Autoimmunity, microbial immunity and the immunological homunculus. Cohen, I.R., Young, D.B. Immunol. Today (1991) [Pubmed]
  23. Y chromosomes traveling south: the cohen modal haplotype and the origins of the Lemba--the "Black Jews of Southern Africa". Thomas, M.G., Parfitt, T., Weiss, D.A., Skorecki, K., Wilson, J.F., le Roux, M., Bradman, N., Goldstein, D.B. Am. J. Hum. Genet. (2000) [Pubmed]
  24. Examining the noncompetitive antagonist-binding site in the ion channel of the nicotinic acetylcholine receptor in the resting state. Blanton, M.P., McCardy, E.A., Gallagher, M.J. J. Biol. Chem. (2000) [Pubmed]
  25. Peptides with more than one 106-amino acid sequence motif are needed to mimic the structural stability of spectrin. Menhart, N., Mitchell, T., Lusitani, D., Topouzian, N., Fung, L.W. J. Biol. Chem. (1996) [Pubmed]
  26. Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. Olivieri, O., Lombardi, S., Russo, C., Corrocher, R. Haematologica (1998) [Pubmed]
  27. Parameters affecting the fusion of unilamellar phospholipid vesicles with planar bilayer membranes. Cohen, F.S., Akabas, M.H., Zimmerberg, J., Finkelstein, A. J. Cell Biol. (1984) [Pubmed]
  28. Purification and characterization of epidermal growth factor receptor/protein kinase from normal mouse liver. Cohen, S., Fava, R.A., Sawyer, S.T. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  29. Mitral valve area in combined mitral stenosis and regurgitation. Askenazi, J., Carlson, C.J., Alpert, J.S., Dexter, L. Circulation (1976) [Pubmed]
  30. Regeneration of an identified central neuron in the cricket. II. Electrical and morphological responses of the soma. Roederer, E., Cohen, M.J. J. Neurosci. (1983) [Pubmed]
  31. Serine/threonine phosphatases in the nervous system. Stemmer, P., Klee, C.B. Curr. Opin. Neurobiol. (1991) [Pubmed]
  32. A calcium-dependent 35-kilodalton substrate for epidermal growth factor receptor/kinase isolated from normal tissue. De, B.K., Misono, K.S., Lukas, T.J., Mroczkowski, B., Cohen, S. J. Biol. Chem. (1986) [Pubmed]
  33. Extracellular nucleotide catabolism in human B and T lymphocytes. The source of adenosine production. Barankiewicz, J., Dosch, H.M., Cohen, A. J. Biol. Chem. (1988) [Pubmed]
  34. Peptides Derived from the C2 Domain of Protein Kinase C{epsilon} ({epsilon}PKC) Modulate {epsilon}PKC Activity and Identify Potential Protein-Protein Interaction Surfaces. Brandman, R., Disatnik, M.H., Churchill, E., Mochly-Rosen, D. J. Biol. Chem. (2007) [Pubmed]
  35. Structure of the noncompetitive antagonist-binding site of the Torpedo nicotinic acetylcholine receptor. [3H]meproadifen mustard reacts selectively with alpha-subunit Glu-262. Pedersen, S.E., Sharp, S.D., Liu, W.S., Cohen, J.B. J. Biol. Chem. (1992) [Pubmed]
  36. Intractable dysphagia following placement of Angelchik prosthesis for reflux esophagitis. Battaglini, J.W., Schorlemmer, G.R., Frantz, P.T. Ann. Thorac. Surg. (1983) [Pubmed]
  37. Studies on lymphocytotoxicity in acute and chronic liver disease. Warnatz, H., Gutmann, W., Rösch, W., Hommel, G. Zeitschrift für Immunitätsforschung. Immunobiology. (1977) [Pubmed]
  38. Transcriptional activation of the human p21(WAF1/CIP1) gene by retinoic acid receptor. Correlation with retinoid induction of U937 cell differentiation. Liu, M., Iavarone, A., Freedman, L.P. J. Biol. Chem. (1996) [Pubmed]
  39. Activity of the epidermal-growth-factor receptor and phospholipase C-gamma 1 in heat-stressed fibroblasts and A-431 cells. Liu, S.M., Carpenter, G. Biochem. J. (1992) [Pubmed]
  40. Same origins of DNA replication function on the active and inactive human X chromosomes. Cohen, S.M., Brylawski, B.P., Cordeiro-Stone, M., Kaufman, D.G. J. Cell. Biochem. (2003) [Pubmed]
  41. Mitogen inactivation of glycogen synthase kinase-3 beta in intact cells via serine 9 phosphorylation. Stambolic, V., Woodgett, J.R. Biochem. J. (1994) [Pubmed]
  42. Identification and analysis of two snail genes in the pufferfish (Fugu rubripes) and mapping of human SNA to 20q. Smith, S., Metcalfe, J.A., Elgar, G. Gene (2000) [Pubmed]
  43. Does the parietal cortex distinguish between "10," "ten," and ten dots? Ansari, D. Neuron (2007) [Pubmed]
  44. Dendritic amputation redistributes sprouting evoked by axotomy in lamprey central neurons. Hall, G.F., Cohen, M.J. J. Neurosci. (1988) [Pubmed]
  45. Lack of effect of cytoplasmic tail truncations on human immunodeficiency virus type 2 ROD env particle release activity. Bour, S.P., Aberham, C., Perrin, C., Strebel, K. J. Virol. (1999) [Pubmed]
  46. Extracellular blockade of K(+) channels by TEA: results from molecular dynamics simulations of the KcsA channel. Crouzy, S., Bernèche, S., Roux, B. J. Gen. Physiol. (2001) [Pubmed]
  47. K(+)- and HCO3(-)-dependent acid-base transport in squid giant axons II. Base influx. Hogan, E.M., Cohen, M.A., Boron, W.F. J. Gen. Physiol. (1995) [Pubmed]
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