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Gene Review

NPRL3  -  nitrogen permease regulator-like 3 (S....

Homo sapiens

Synonyms: -14 gene protein, Alpha-globin regulatory element-containing gene protein, C16orf35, CGTHBA, HS-40, ...
 
 
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Disease relevance of C16orf35

  • Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in French Caucasians [1].
  • We report novel keratin 5 and 14 gene mutations in four unrelated German families with the localized subtype of the dominantly inherited blistering disease epidermolysis bullosa simplex Weber-Cockayne (MIM# 131800) [2].
  • (4) Progression of the AD-like dermatitis is associated with further oligoclonal expansion/accumulation of T cells with the TCR BV 14 gene [3].
 

High impact information on C16orf35

  • Analyses of a T-cell clone (J 6.19), which has productively rearranged the V beta 14 gene segment, indicate that the productive V beta-D beta-J beta rearrangement and its reciprocal flank recombination product are linked and located at either border of a chromosomal inversion [4].
  • Familial Alzheimer's linked to chromosome 14 gene [5].
  • The 1050 bp open reading frame comprising the enn64/14 gene was completely sequenced [6].
  • Thus, the delegen 14 gene is the best candidate for Osnop, corresponding to the pollen-less phenotype in the mutant [7].
  • Since the delegen 14 gene has both C(2) and GRAM domains, it can be assumed that this gene cross-links both calcium and phosphoinositide signaling pathways [7].
 

Biological context of C16orf35

  • BFP filament biogenesis and function are encoded by the 14-gene bfp operon [8].
  • These analyses showed that, unlike the chromosome 14 gene, chromosome 1 gene expression is limited and of low abundance [9].
  • The map comprises 14 gene markers, selected from loci previously mapped within the corresponding evolutionarily conserved chromosome segments (ECCS) of the human genome [10].
  • The inferred phylogeny implies the occurrence of at least 14 gene duplications and contains five regions where the branching order is statistically non-significant--this uncertainty explaining most inconsistencies between previous phylogenetic analyses [11].
 

Anatomical context of C16orf35

 

Other interactions of C16orf35

  • The molecular pathology of ApoE in relation to AD development and the identification of the chromosome 14 gene will greatly contribute to a general pathogenic model of AD, and will clarify the role of beta APP and its derivatives [13].
 

Analytical, diagnostic and therapeutic context of C16orf35

  • RESULTS: A 14-gene profile was extracted which could accurately separate ten patients with VI and eight patients without VI in the "training group". In the "test group", significant difference in disease-free survival was found between patients predicted to have and not to have recurrence (P = .02823) [14].
  • An application of the polymerase chain reaction (PCR) amplifying a fragment of the K1-14 gene of P. falciparum was used as a reference method [15].

References

  1. Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in French Caucasians. Durand, E., Boutin, P., Meyre, D., Charles, M.A., Clement, K., Dina, C., Froguel, P. Diabetes (2004) [Pubmed]
  2. Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. Müller, F.B., Küster, W., Bruckner-Tuderman, L., Korge, B.P. J. Invest. Dermatol. (1998) [Pubmed]
  3. Analysis of T cell receptor (TCR) BV-gene clonotypes in NC/Nga mice developing dermatitis resembling human atopic dermatitis. Matsuoka, A., Kato, T., Soma, Y., Takahama, H., Nakamura, M., Matsuoka, H., Mizoguchi, M. J. Dermatol. Sci. (2005) [Pubmed]
  4. Direct evidence for chromosomal inversion during T-cell receptor beta-gene rearrangements. Malissen, M., McCoy, C., Blanc, D., Trucy, J., Devaux, C., Schmitt-Verhulst, A.M., Fitch, F., Hood, L., Malissen, B. Nature (1986) [Pubmed]
  5. Familial Alzheimer's linked to chromosome 14 gene. Marx, J. Science (1992) [Pubmed]
  6. A group A streptococcal Enn protein potentially resulting from intergenomic recombination exhibits atypical immunoglobulin-binding characteristics. Podbielski, A., Hawlitzky, J., Pack, T.D., Flosdorff, A., Boyle, M.D. Mol. Microbiol. (1994) [Pubmed]
  7. The Oryza sativa no pollen (Osnop) gene plays a role in male gametophyte development and most likely encodes a C2-GRAM domain-containing protein. Jiang, S.Y., Cai, M., Ramachandran, S. Plant Mol. Biol. (2005) [Pubmed]
  8. Structural and topographical studies of the type IV bundle-forming pilus assembly complex of enteropathogenic Escherichia coli. Hwang, J., Bieber, D., Ramer, S.W., Wu, C.Y., Schoolnik, G.K. J. Bacteriol. (2003) [Pubmed]
  9. Type II gonadotropin-releasing hormone receptor transcripts in human sperm. van Biljon, W., Wykes, S., Scherer, S., Krawetz, S.A., Hapgood, J. Biol. Reprod. (2002) [Pubmed]
  10. An integrated cytogenetic, radiation-hybrid, and comparative map of dog chromosome 5. Thomas, R., Breen, M., Deloukas, P., Holmes, N.G., Binns, M.M. Mamm. Genome (2001) [Pubmed]
  11. Molecular evolution of the multigene family of intracellular lipid-binding proteins. Schleicher, C.H., Córdoba, O.L., Santomé, J.A., Dell'Angelica, E.C. Biochem. Mol. Biol. Int. (1995) [Pubmed]
  12. Familial arachnoid cysts associated with oculopharyngeal muscular dystrophy. Jadeja, K.J., Grewal, R.P. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. (2003) [Pubmed]
  13. The molecular genetics of Alzheimer's disease. Mullan, M., Crawford, F. Mol. Neurobiol. (1994) [Pubmed]
  14. A Gene Expression Profile for Vascular Invasion can Predict the Recurrence After Resection of Hepatocellular Carcinoma: a Microarray Approach. Ho, M.C., Lin, J.J., Chen, C.N., Chen, C.C., Lee, H., Yang, C.Y., Ni, Y.H., Chang, K.J., Hsu, H.C., Hsieh, F.J., Lee, P.H. Ann. Surg. Oncol. (2006) [Pubmed]
  15. Detection of Plasmodium falciparum sporozoites in naturally infected anopheline species using a fluorescein-labelled DNA probe. Lulu, M., Hermans, P.W., Gemetchu, T., Petros, B., Miörner, H. Acta Trop. (1997) [Pubmed]
 
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