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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Africa, Northern

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Disease relevance of Africa, Northern


Psychiatry related information on Africa, Northern

  • This patient is the first carrier of the PRNP V210I mutation reported from North Africa. The clinical presentation of the patient was rather similar to that seen in classical CJD, except that unusual early sensory symptoms were observed [6].

High impact information on Africa, Northern

  • Adhalin deficiency has been found in SCARMD patients from North Africa Europe, Brazil, Japan and North America (SLR & KPC, unpublished data) [7].
  • The two major variants (Thr-Gly)17 and (Thr-Gly)20 are distributed as a highly significant latitudinal cline in Europe and North Africa. Thr-Gly length variation from both wild-caught and transgenic individuals is related to the flies' ability to maintain a circadian period at different temperatures [8].
  • Mutations in the gene for keratinocyte transglutaminase (TGM1) on chromosome 14q11 were shown in patients with ARCI, and a second locus was described, on chromosome 2q, in families from northern Africa. Three other loci for ARCI, on chromosomes 3p and 19p, were identified recently [9].
  • We have identified six nucleotide changes in the cystatin B gene of non-Finnish EPM1 families from northern Africa and Europe. The 426G-->C change in exon 1 results in a Gly4Arg substitution and is the first missense mutation described that is associated with EPM1 [10].
  • Total cholesterol levels were lowest in teenagers of both sexes whose fathers had come from North Africa, highest in subjects of European and of Israeli origin and intermediate in the Asians [11].

Chemical compound and disease context of Africa, Northern


Biological context of Africa, Northern

  • We have determined the DNA sequence of intron 1 and flanking exons in the mitochondrial apocytochrome b gene of the Neurospora laboratory strain 74A and the natural isolate North Africa. In contrast to a previous report, we find that this intron contains an open reading frame (ORF) of 951 bases in frame with the upstream exon [13].
  • We evaluated 20 patients from 15 families (12 from Europe and three from North Africa) with a primary adhalin deficiency with two objectives: characterization of the clinical phenotype and analysis of the correlation with the level of adhalin expression and the type of gene mutation [14].
  • Allele frequencies for 13 STRs (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, THO1, TPOX, CSF1PO and D16S539) included in the AmpFlSTR Profiler Plus and COfiler kits were determined for a population sample from the Maghreb (Northern Africa) [15].
  • Our results suggest that beta-globin gene haplotypes influence the clinical presentation of sickle-cell disease, and that there are at least two major foci for the origin of the sickle-cell gene, one in the eastern part of Saudi Arabia, and the other in the populations of North Africa and the north-western part of the Arabian peninsula [16].

Associations of Africa, Northern with chemical compounds

  • The first modern humans in the Maghreb are said to be associated with the Aterian industries which appeared at least 40 ka BP in the northwest [17].
  • Mitochondrial control region diversity of the houbara bustard Chlamydotis undulata complex and genetic structure along the Atlantic seaboard of North Africa [18].
  • It is widely distributed along the coasts of Europe, North Africa, USA and Australia. The objectives of this study were to study the allergenic composition of S. kali pollen and to purify an important allergen from the pollen extracts of this plant [19].
  • Green tea is consumed primarily in China, Japan, and a few countries in North Africa and the Middle East. Fresh tea leaf is unusually rich in the flavanol group of polyphenols known as catechins which may constitute up to 30% of the dry leaf weight [20].
  • In North Africa like Tunisia where high incidence of chronic interstitial nephropathies of unknown aetiology are pointed out, the involvement of ochratoxin A was suspected but contradictory studies on the degree of human exposure did not succeed in evidencing the role of ochratoxin A [21].

Gene context of Africa, Northern

  • LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa [22].
  • Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene ( CSTB) promoter [23].
  • It has been shown that the Saharawi refugees living in northern Africa have a very high frequency of CD [24].
  • HLA-A, -B and -C specificities were determined in 100 Egyptians living and originating from the region of the Nile Delta. The pattern of antigen frequencies were similar to those of Berber populations living in North Africa with some exceptions compatible with the Semitic contribution to the Egyptian population [25].
  • It constitutes a major health problem in North Africa. We investigated the production of circulating interferon (IFN), tumor necrosis factor-alpha (TNF-alpha), and interleukin-6 (IL-6) in Algerian patients with liver, lung, or ocular hydatidosis [26].


  1. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. McNally, E.M., Passos-Bueno, M.R., Bönnemann, C.G., Vainzof, M., de Sá Moreira, E., Lidov, H.G., Othmane, K.B., Denton, P.H., Vance, J.M., Zatz, M., Kunkel, L.M. Am. J. Hum. Genet. (1996) [Pubmed]
  2. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Dodé, C., André, M., Bienvenu, T., Hausfater, P., Pêcheux, C., Bienvenu, J., Lecron, J.C., Reinert, P., Cattan, D., Piette, J.C., Szajnert, M.F., Delpech, M., Grateau, G. Arthritis Rheum. (2002) [Pubmed]
  3. Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin. Reshef, A., Meiner, V., Berginer, V.M., Leitersdorf, E. J. Lipid Res. (1994) [Pubmed]
  4. Amino-acid change in the Epstein-Barr-virus ZEBRA protein in undifferentiated nasopharyngeal carcinomas from Europe and North Africa. Grunewald, V., Bonnet, M., Boutin, S., Yip, T., Louzir, H., Levrero, M., Seigneurin, J.M., Raphael, M., Touitou, R., Martel-Renoir, D., Cochet, C., Durandy, A., Andre, P., Lau, W., Zeng, Y., Joab, I. Int. J. Cancer (1998) [Pubmed]
  5. Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. Lefèvre, C., Blanchet-Bardon, C., Jobard, F., Bouadjar, B., Stalder, J.F., Cure, S., Hoffmann, A., Prud'Homme, J.F., Fischer, J. J. Invest. Dermatol. (2001) [Pubmed]
  6. Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease. Mouillet-Richard, S., Teil, C., Lenne, M., Hugon, S., Taleb, O., Laplanche, J.L. J. Neurol. Sci. (1999) [Pubmed]
  7. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Piccolo, F., Roberds, S.L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrié, A., Récan, D., Chaouch, M., Reghis, A. Nat. Genet. (1995) [Pubmed]
  8. Natural variation in a Drosophila clock gene and temperature compensation. Sawyer, L.A., Hennessy, J.M., Peixoto, A.A., Rosato, E., Parkinson, H., Costa, R., Kyriacou, C.P. Science (1997) [Pubmed]
  9. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Krebsová, A., Küster, W., Lestringant, G.G., Schulze, B., Hinz, B., Frossard, P.M., Reis, A., Hennies, H.C. Am. J. Hum. Genet. (2001) [Pubmed]
  10. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Lalioti, M.D., Mirotsou, M., Buresi, C., Peitsch, M.C., Rossier, C., Ouazzani, R., Baldy-Moulinier, M., Bottani, A., Malafosse, A., Antonarakis, S.E. Am. J. Hum. Genet. (1997) [Pubmed]
  11. Plasma high-density lipoprotein cholesterol, total cholesterol and triglyceride levels in 17-year-old Jewish residents of Jerusalem: a preliminary report. The Lipid Research Clinics Program Prevalence Study. Halfon, S.T., Friedlander, Y., Halperin, G., Harlap, S., Dennis, B.H., Moore, M.H., Mowery, R.L., Tyroler, H.A., Williams, O.D. Circulation (1980) [Pubmed]
  12. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Vanier, M.T., Ferlinz, K., Rousson, R., Duthel, S., Louisot, P., Sandhoff, K., Suzuki, K. Hum. Genet. (1993) [Pubmed]
  13. The self-splicing intron in the Neurospora apocytochrome b gene contains a long reading frame in frame with the upstream exon. Collins, R.A., Reynolds, C.A., Olive, J. Nucleic Acids Res. (1988) [Pubmed]
  14. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Eymard, B., Romero, N.B., Leturcq, F., Piccolo, F., Carrié, A., Jeanpierre, M., Collin, H., Deburgrave, N., Azibi, K., Chaouch, M., Merlini, L., Thémar-Noël, C., Penisson, I., Mayer, M., Tanguy, O., Campbell, K.P., Kaplan, J.C., Tomé, F.M., Fardeau, M. Neurology (1997) [Pubmed]
  15. STR data for the AmpFlSTR Profiler Plus and COfiler loci from the Maghreb (North Africa). Farfán, M.J., Prieto, V., Torres, Y., López-Soto, M., Sanz, P. Forensic Sci. Int. (2001) [Pubmed]
  16. Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease. el-Hazmi, M.A., Warsy, A.S., Bashir, N., Beshlawi, A., Hussain, I.R., Temtamy, S., Qubaili, F. Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ. (1999) [Pubmed]
  17. Recent human evolution in northwestern Africa. Hublin, J.J. Philos. Trans. R. Soc. Lond., B, Biol. Sci. (1992) [Pubmed]
  18. Mitochondrial control region diversity of the houbara bustard Chlamydotis undulata complex and genetic structure along the Atlantic seaboard of North Africa. Idaghdour, Y., Broderick, D., Korrida, A., Chbel, F. Mol. Ecol. (2004) [Pubmed]
  19. Immunochemical characterization of Russian thistle (Salsola kali) pollen extracts. Purification of the allergen Sal k 1. Carnés, J., Fernández-Caldas, E., Marina, A., Alonso, C., Lahoz, C., Colás, C., Lezaun, A. Allergy (2003) [Pubmed]
  20. Green tea composition, consumption, and polyphenol chemistry. Graham, H.N. Preventive medicine. (1992) [Pubmed]
  21. New data on the occurrence of ochratoxin A in human sera from patients affected or not by renal diseases in Tunisia. Grosso, F., Saíd, S., Mabrouk, I., Fremy, J.M., Castegnaro, M., Jemmali, M., Dragacci, S. Food Chem. Toxicol. (2003) [Pubmed]
  22. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Lesage, S., Ibanez, P., Lohmann, E., Pollak, P., Tison, F., Tazir, M., Leutenegger, A.L., Guimaraes, J., Bonnet, A.M., Agid, Y., Dürr, A., Brice, A. Ann. Neurol. (2005) [Pubmed]
  23. Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. Moulard, B., Genton, P., Grid, D., Jeanpierre, M., Ouazzani, R., Mrabet, A., Morris, M., LeGuern, E., Dravet, C., Mauguière, F., Utermann, B., Baldy-Moulinier, M., Belaidi, H., Bertran, F., Biraben, A., Ali Chérif, A., Chkili, T., Crespel, A., Darcel, F., Dulac, O., Geny, C., Humbert-Claude, V., Kassiotis, P., Buresi, C., Malafosse, A. Hum. Genet. (2002) [Pubmed]
  24. The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence. Catassi, C., Doloretta Macis, M., Rätsch, I.M., De Virgiliis, S., Cucca, F. Tissue Antigens (2001) [Pubmed]
  25. HLA-A, -B and -C specificities in a sample of the Nile Delta population, Egypt. el Sawy, M., Helmy-Khalil, S., Zaky, A., Marcelli-Barge, A. Tissue Antigens (1984) [Pubmed]
  26. Relationship among circulating interferon, tumor necrosis factor-alpha, and interleukin-6 and serologic reaction against parasitic antigen in human hydatidosis. Touil-Boukoffa, C., Sancéau, J., Tayebi, B., Wietzerbin, J. J. Interferon Cytokine Res. (1997) [Pubmed]
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