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USH1G  -  Usher syndrome 1G (autosomal recessive)

Homo sapiens

Synonyms: ANKS4A, FLJ33924, SANS, Sans, Scaffold protein containing ankyrin repeats and SAM domain, ...
 
 
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Disease relevance of USH1G

 

Psychiatry related information on USH1G

  • Mental health care for refugees from Kosovo: the experience of Médecins Sans Frontières [5].
  • The relationship of a full range of psychiatric symptoms to EE was examined in 40 men with BPRS and SANS diagnoses of schizophrenia or schizoaffective disorder [6].
  • The patients' psychopathology was assessed by the Scale for the Assessment of Positive and Negative Symptoms (SAPS, SANS) [7].
  • Andreasen's scales for the assessment of positive (SAPS) and negative (SANS) symptoms and the Brief Psychiatric Rating Scale (BPRS) were administered to a group of 70 neuroleptic-free psychotic inpatients [8].
  • The Sympson-Angus Scale and SANS were performed in order to discriminate between depressive symptoms, the extrapyramidal side-effects of neuroleptics and the negative symptoms of schizophrenia [9].
 

High impact information on USH1G

  • Cell biology: telomeres sans frontières [10].
  • We show that sans can form homomeric structures and that harmonin b can interact with all harmonin isoforms [11].
  • We localize sans in the apical region of cochlear and vestibular hair cell bodies underneath the cuticular plate [11].
  • Seven genetic loci (USH1A-G) have been implicated in this disease to date, and four of the corresponding genes have been identified: USH1B, C, D and F. We carried out fine mapping of USH1G (chromosome 17q24-25), restricting the location of this gene to an interval of 2.6 Mb and then screened genes present within this interval for mutations [12].
  • Two brothers from a German family affected with USH1G were found to be compound heterozygotes for a frameshift and a missense mutation [12].
 

Chemical compound and disease context of USH1G

  • Studies were retained in the analysis if: (i) they assessed negative symptoms using the SANS; (ii) groups of schizophrenia patients were divided according to substance use disorders (alcohol, amphetamines, cannabis, cocaine, hallucinogens, heroin and phencyclidine).Results [13].
  • Positive and negative symptoms and extrapyramidal side effects were assessed using standardized rating scales (PSAS, AMDP, SANS). 'Reaction time' and 'motor speed' were measured using a computer-aided system and striatal dopamine D2/D3 receptor availability was assessed using [I-123]IBZM SPECT [14].
  • Patients were evaluated with the Brief Psychiatric Rating Scale (BPRS), the Scale for the Assessment of Positive Symptoms (SAPS) and the Scale for the Assessment of the Negative Symptoms (SANS) at baseline (TO), and after four weeks (T4) in nine patients who were subsequently treated with haloperidol (HL) [15].
  • Consecutively admitted patients with NS and dementia--12 with dementia of Alzheimer's type and 15 with vascular dementia--were rated on severity of NS (SANS and PANSS-N scales), depressive symptoms (Ham-D), and cognitive impairment (MMSE) before and after treatment with methylphenidate [16].
  • Royal Society of Tropical Medicine and Hygiene joint meeting with Médecins Sans Frontières at Manson House, London, 20 March 2003: field research in humanitarian medical programmes. Médecins Sans Frontières interventions against kala-azar in the Sudan, 1989-2003 [17].
 

Biological context of USH1G

  • In two consanguineous USH1G-affected families, we detected two different frameshift mutations in the SANS gene [12].
  • A polyclonal antibody sans AR (PCA/SAR) was also used [18].
  • Moreover, factor analysis of these changes showed a characteristic spatial pattern of changes, which demonstrates significant associations between alterations of phospholipid and energy metabolism, and between metabolic alterations and severity of symptoms (BPRS total score, but not SANS or SAPS scores) [19].
  • Consanguinity sans reproche [20].
  • When Aubaniac first introduced the central venous catheter to clinical medicine he stated 'Elle est strictement sans danger'. Subsequently, central venous catheters have been used for monitoring, medicating and feeding intensive care patients of all ages [21].
 

Anatomical context of USH1G

  • All of the patients showed a reduction in white blood cell counts, but this was significantly less in the SANS responders than the SANS nonresponders (P = 0.047) [22].
  • A small resectoscope loop, sans scope, has been used to obtain tissue from the male urethral mucosa for diagnostic and therapeutic purposes [23].
  • Cytomegalovirus-associated cutaneous vasculopathy and scleroderma sans inclusion body change [24].
  • A TB programme was implemented by Médecins Sans Frontières(MSF)-Holland in a semi-nomadic population in a very insecure and underdeveloped area of Upper Nile province in Southern Sudan. Outcome measures were operational feasibility, default rate, and sputum smear conversion at 4 months [25].
  • In order to evaluate the role of the sympathetic autonomic nervous system (SANS) in common migraine we measured platelet catecholamine levels in a group of patients and in control subjects after 1 and 30 min of supine rest [26].
 

Associations of USH1G with chemical compounds

  • Furthermore, this scaffold function of harmonin is supported by the USH1G protein SANS [27].
  • Halothane hepatitis sans halothane [28].
  • Plasma PE did not appear to be influenced by the severity of schizophrenic symptoms (rated by BPRS, SANS, and SAPS) or by the amount of dietary phenylalanine ingested within 24 hr of testing [29].
  • Ritanserin reduced the negative symptoms, as measured with the SANS [30].
  • Both amisulpride doses were significantly more effective than placebo on the primary evaluation criterion (SANS total score, MANOVA P < 0.02) [31].
 

Analytical, diagnostic and therapeutic context of USH1G

  • Highly active antiretroviral therapy in resource-poor settings: the experience of Médecins Sans Frontières [32].
  • In this final electroencephalographic (EEG) mapping study of our series on motor dysfunction in neuroleptic-treated schizophrenic patients, we studied 10 right-handed patients with marked negative symptomatology [type II; raw score on the SANS (Munich version) 31.4 +/- 5.1] [33].
  • Ten treatment-resistant schizophrenic subjects were treated with clozapine for a mean of 10.3 (s.e. 0.9) weeks; d-fenfluramine (DFEN) challenge tests were performed before and after treatment with concurrent clinical ratings (BPRS, SAPS, SANS) made at the time of testing [34].
  • Using narrow criteria (e.g. SANS), the results of this meta-analysis show that schizophrenia patients with a substance use disorder experience fewer negative symptoms than abstinent schizophrenia patients [13].
  • GOAL: The need for biological data on the susceptibility of Neisseria gonorrhoeae in Kyrghyzstan, to enable adaptation of the national treatment protocol for gonococcal infections, led Médecins Sans Frontières and Epicentre to conduct a survey in collaboration with the Alfred Fournier Institute in Paris and the health authorities in Bishkek [35].

References

  1. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Mustapha, M., Chouery, E., Torchard-Pagnez, D., Nouaille, S., Khrais, A., Sayegh, F.N., Mégarbané, A., Loiselet, J., Lathrop, M., Petit, C., Weil, D. Hum. Genet. (2002) [Pubmed]
  2. Brain death sans frontières. Levin, S.D., Whyte, R.K. N. Engl. J. Med. (1988) [Pubmed]
  3. Epidemic visceral leishmaniasis in southern Sudan: treatment of severely debilitated patients under wartime conditions and with limited resources. Seaman, J., Mercer, A.J., Sondorp, H.E., Herwaldt, B.L. Ann. Intern. Med. (1996) [Pubmed]
  4. "CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency? Lipson, A., Emanuel, B., Colley, P., Fagan, K., Driscoll, D.A. J. Med. Genet. (1994) [Pubmed]
  5. Mental health care for refugees from Kosovo: the experience of Médecins Sans Frontières. de Jong, K., Ford, N., Kleber, R. Lancet (1999) [Pubmed]
  6. Patient psychopathology and expressed emotion in schizophrenia. Glynn, S.M., Randolph, E.T., Eth, S., Paz, G.G., Leong, G.B., Shaner, A.L., Strachan, A. The British journal of psychiatry : the journal of mental science. (1990) [Pubmed]
  7. Relationships between interleukins, neurotransmitters and psychopathology in drug-free male schizophrenics. Kim, Y.K., Kim, L., Lee, M.S. Schizophr. Res. (2000) [Pubmed]
  8. Positive and negative symptoms in neuroleptic-free psychotic inpatients. Stuart, G.W., Malone, V., Currie, J., Klimidis, S., Minas, I.H. Schizophr. Res. (1995) [Pubmed]
  9. A comparative study of sertraline versus imipramine in postpsychotic depressive disorder of schizophrenia. Kirli, S., Caliskan, M. Schizophr. Res. (1998) [Pubmed]
  10. Cell biology: telomeres sans frontières. Blackburn, E.H. Nature (1990) [Pubmed]
  11. Interactions in the network of Usher syndrome type 1 proteins. Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K.N., Weil, D., Yonekawa, H., Wolfrum, U., El-Amraoui, A., Petit, C. Hum. Mol. Genet. (2005) [Pubmed]
  12. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Lainé, S., Delmaghani, S., Adato, A., Nadifi, S., Zina, Z.B., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C. Hum. Mol. Genet. (2003) [Pubmed]
  13. A meta-analysis of negative symptoms in dual diagnosis schizophrenia. Potvin, S., Sepehry, A.A., Stip, E. Psychological medicine. (2006) [Pubmed]
  14. Psychomotor slowing, negative symptoms and dopamine receptor availability--an IBZM SPECT study in neuroleptic-treated and drug-free schizophrenic patients. Heinz, A., Knable, M.B., Coppola, R., Gorey, J.G., Jones, D.W., Lee, K.S., Weinberger, D.R. Schizophr. Res. (1998) [Pubmed]
  15. Cholecystokinin, beta-endorphin and vasoactive intestinal peptide in peripheral blood mononuclear cells of drug-naive schizophrenic patients treated with haloperidol compared to healthy controls. Mauri, M.C., Rudelli, R., Vanni, S., Panza, G., Sicaro, A., Audisio, D., Sacerdote, P., Panerai, A.E. Psychiatry research. (1998) [Pubmed]
  16. Methylphenidate treatment of negative symptoms in patients with dementia. Galynker, I., Ieronimo, C., Miner, C., Rosenblum, J., Vilkas, N., Rosenthal, R. The Journal of neuropsychiatry and clinical neurosciences. (1997) [Pubmed]
  17. Royal Society of Tropical Medicine and Hygiene joint meeting with Médecins Sans Frontières at Manson House, London, 20 March 2003: field research in humanitarian medical programmes. Médecins Sans Frontières interventions against kala-azar in the Sudan, 1989-2003. Ritmeijer, K., Davidson, R.N. Trans. R. Soc. Trop. Med. Hyg. (2003) [Pubmed]
  18. Discrepancies in clinical laboratory testing of eligibility for trastuzumab therapy: apparent immunohistochemical false-positives do not get the message. Tubbs, R.R., Pettay, J.D., Roche, P.C., Stoler, M.H., Jenkins, R.B., Grogan, T.M. J. Clin. Oncol. (2001) [Pubmed]
  19. Metabolic mapping using 2D (31)P-MR spectroscopy reveals frontal and thalamic metabolic abnormalities in schizophrenia. Smesny, S., Rosburg, T., Nenadic, I., Fenk, K.P., Kunstmann, S., Rzanny, R., Volz, H.P., Sauer, H. Neuroimage (2007) [Pubmed]
  20. Consanguinity sans reproche. Ten Kate, L.P., Scheffer, H., Cornel, M.C., van Lookeren Campagne, J.G. Hum. Genet. (1991) [Pubmed]
  21. Total parenteral nutrition tamponade. Sutcliffe, A.G. Journal of the Royal Society of Medicine. (1995) [Pubmed]
  22. Predictors of clinical outcome in schizophrenic patients responding to clozapine. Mauri, M.C., Volonteri, L.S., Dell'Osso, B., Regispani, F., Papa, P., Baldi, M., Bareggi, S.R. Journal of clinical psychopharmacology. (2003) [Pubmed]
  23. Resectoscope loop for urethral biopsy following cystectomy in the male patient. Grabstald, H. J. Urol. (1980) [Pubmed]
  24. Cytomegalovirus-associated cutaneous vasculopathy and scleroderma sans inclusion body change. Magro, C.M., Crowson, A.N., Ferri, C. Hum. Pathol. (2007) [Pubmed]
  25. Field research in humanitarian medical programmes. Treatment of a cohort of tuberculosis patients using the Manyatta regimen in a conflict zone in South Sudan. Keus, K., Houston, S., Melaku, Y., Burling, S. Trans. R. Soc. Trop. Med. Hyg. (2003) [Pubmed]
  26. Platelet as a model to test autonomic function in migraine. D'Andrea, G., Cananzi, A.R., Morra, M., Fornasiero, S., Zamberlan, F., Ferro-Milone, F., Joseph, R., Grunfeld, S., Welch, K.M. Funct. Neurol. (1989) [Pubmed]
  27. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Reiners, J., Nagel-Wolfrum, K., Jürgens, K., Märker, T., Wolfrum, U. Exp. Eye Res. (2006) [Pubmed]
  28. Halothane hepatitis sans halothane. Conn, H.O., Skornicki, J. Hepatology (1985) [Pubmed]
  29. Plasma phenylethylamine in schizophrenic patients. O'Reilly, R., Davis, B.A., Durden, D.A., Thorpe, L., Machnee, H., Boulton, A.A. Biol. Psychiatry (1991) [Pubmed]
  30. Ritanserin, a selective 5-HT2/1C antagonist, and negative symptoms in schizophrenia. A placebo-controlled double-blind trial. Duinkerke, S.J., Botter, P.A., Jansen, A.A., van Dongen, P.A., van Haaften, A.J., Boom, A.J., van Laarhoven, J.H., Busard, H.L. The British journal of psychiatry : the journal of mental science. (1993) [Pubmed]
  31. Treatment of negative symptoms in schizophrenia with amisulpride. Boyer, P., Lecrubier, Y., Puech, A.J., Dewailly, J., Aubin, F. The British journal of psychiatry : the journal of mental science. (1995) [Pubmed]
  32. Highly active antiretroviral therapy in resource-poor settings: the experience of Médecins Sans Frontières. Tassie, J.M., Szumilin, E., Calmy, A., Goemaere, E. AIDS (2003) [Pubmed]
  33. Bilateral brain dysfunction during motor activation in type II schizophrenia measured by EEG mapping. Guenther, W., Davous, P., Godet, J.L., Guillibert, E., Breitling, D., Rondot, P. Biol. Psychiatry (1988) [Pubmed]
  34. Effect of clozapine on d-fenfluramine-evoked neuroendocrine responses in schizophrenia and its relationship to clinical improvement. Curtis, V.A., Wright, P., Reveley, A., Kerwin, R., Lucey, J.V. The British journal of psychiatry : the journal of mental science. (1995) [Pubmed]
  35. In vitro susceptibility of 120 strains of Neisseria gonorrhoeae isolated in Kyrghyzstan. Dorlencourt, F., Boireaux, C., Sednaoui, P., Danilenko, N.V., Legros, D. Sexually transmitted diseases. (2002) [Pubmed]
 
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