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

• The association of these two disorders suggests that in this family, a chromosome 14 gene may play a role in the development of arachnoid cysts [12].

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