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Gene Review

ALMS1  -  Alstrom syndrome 1

Homo sapiens

Synonyms: Alstrom syndrome protein 1, KIAA0328
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Disease relevance of ALMS1


Psychiatry related information on ALMS1


High impact information on ALMS1


Chemical compound and disease context of ALMS1


Biological context of ALMS1


Anatomical context of ALMS1


Associations of ALMS1 with chemical compounds


Other interactions of ALMS1


Analytical, diagnostic and therapeutic context of ALMS1


  1. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Hearn, T., Spalluto, C., Phillips, V.J., Renforth, G.L., Copin, N., Hanley, N.A., Wilson, D.I. Diabetes (2005) [Pubmed]
  2. Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus. 't Hart, L.M., Maassen, J.A., Dekker, J.M., Heine, R.J., Maassen, J.A. Diabetologia (2003) [Pubmed]
  3. Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis. Arsov, T., Silva, D.G., O'Bryan, M.K., Sainsbury, A., Lee, N.J., Kennedy, C., Manji, S.S., Nelms, K., Liu, C., Vinuesa, C.G., de Kretser, D.M., Goodnow, C.C., Petrovsky, N. Mol. Endocrinol. (2006) [Pubmed]
  4. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Collin, G.B., Marshall, J.D., Ikeda, A., So, W.V., Russell-Eggitt, I., Maffei, P., Beck, S., Boerkoel, C.F., Sicolo, N., Martin, M., Nishina, P.M., Naggert, J.K. Nat. Genet. (2002) [Pubmed]
  5. Homozygosity mapping at Alström syndrome to chromosome 2p. Collin, G.B., Marshall, J.D., Cardon, L.R., Nishina, P.M. Hum. Mol. Genet. (1997) [Pubmed]
  6. Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation. Boor, R., Herwig, J., Schrezenmeir, J., Pontz, B.F., Schönberger, W. Am. J. Med. Genet. (1993) [Pubmed]
  7. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Hearn, T., Renforth, G.L., Spalluto, C., Hanley, N.A., Piper, K., Brickwood, S., White, C., Connolly, V., Taylor, J.F., Russell-Eggitt, I., Bonneau, D., Walker, M., Wilson, D.I. Nat. Genet. (2002) [Pubmed]
  8. Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases. Paisey, R.B., Carey, C.M., Bower, L., Marshall, J., Taylor, P., Maffei, P., Mansell, P. Clin. Endocrinol. (Oxf) (2004) [Pubmed]
  9. Growth hormone deficiency in two siblings with Alström syndrome. Alter, C.A., Moshang, T. Am. J. Dis. Child. (1993) [Pubmed]
  10. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. Minton, J.A., Owen, K.R., Ricketts, C.J., Crabtree, N., Shaikh, G., Ehtisham, S., Porter, J.R., Carey, C., Hodge, D., Paisey, R., Walker, M., Barrett, T.G. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  11. Metabolic effects of growth hormone therapy in an Alström syndrome patient. Tai, T.S., Lin, S.Y., Sheu, W.H. Horm. Res. (2003) [Pubmed]
  12. Severe hepatitis treated with an artificial liver support system. Lanjuan, L., Qian, Y., Jianrong, H., Xiaowei, X., Yuemei, C., Yagang, C., Weihang, M., Zhi, C., Suzhen, F. The International journal of artificial organs. (2001) [Pubmed]
  13. Doppler tissue, strain, and strain rate imaging in pediatric patients with Alström syndrome: are there regional functional abnormalities? Toulany, A., Shea, S., Warren, A.E. Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography. (2006) [Pubmed]
  14. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. Bond, J., Flintoff, K., Higgins, J., Scott, S., Bennet, C., Parsons, J., Mannon, J., Jafri, H., Rashid, Y., Barrow, M., Trembath, R., Woodruff, G., Rossa, E., Lynch, S., Sheilds, J., Newbury-Ecob, R., Falconer, A., Holland, P., Cockburn, D., Karbani, G., Malik, S., Ahmed, M., Roberts, E., Taylor, G., Woods, C.G. J. Med. Genet. (2005) [Pubmed]
  15. Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alström syndrome. Chen, F., Collin, G.B., Liu, K.C., Beier, D.R., Eccles, M., Nishina, P.M., Moshang, T., Epstein, J.A. Genomics (2001) [Pubmed]
  16. Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome. Collin, G.B., Nishina, P.M., Marshall, J.D., Naggert, J.K. Genomics (1998) [Pubmed]
  17. TGFA: exon-intron structure and evaluation as a candidate gene for Alström syndrome. Collin, G.B., Marshall, J.D., Naggert, J.K., Nishina, P.M. Clin. Genet. (1999) [Pubmed]
  18. Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization. Pushkin, A., Abuladze, N., Newman, D., Lee, I., Xu, G., Kurtz, I. IUBMB Life (2000) [Pubmed]
  19. Effect of artificial liver support system on patients with severe viral hepatitis: a study of four hundred cases. Li, L.J., Yang, Q., Huang, J.R., Xu, X.W., Chen, Y.M., Fu, S.Z. World J. Gastroenterol. (2004) [Pubmed]
  20. Development of reliable artificial liver support (ALS)--plasma exchange in combination with hemodiafiltration using high-performance membranes. Yoshiba, M., Sekiyama, K., Iwamura, Y., Sugata, F. Dig. Dis. Sci. (1993) [Pubmed]
  21. A rare case of Alström syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography. Makaryus, A.N., Popowski, B., Kort, S., Paris, Y., Mangion, J. Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography. (2003) [Pubmed]
  22. The Alström syndrome: ophthalmic histopathology and retinal ultrastructure. Sebag, J., Albert, D.M., Craft, J.L. The British journal of ophthalmology. (1984) [Pubmed]
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