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07-Dec-2018 15:27

Their unaffected parents were heterozygous for the mutation, which was not found in 96 Turkish controls. (2010) identified homozygosity for a 1-bp insertion (57ins C) in exon 1 of the HPSE2 gene, predicted to cause a frameshift and premature stop codon at residue 64.

All 4 unaffected parents and 10 unaffected sibs were heterozygous for the mutation, which was not found in 96 Turkish controls. (2012) identified homozygosity for a c.1628A-T transversion in the HPSE2 gene, resulting in an asn543-to-ile (N543I) substitution at a highly conserved residue.

Hpse2 -/- cells of all 3 bladder tissue layers (urothelium, lamina propria, detrusor smooth muscle) showed significantly reduced proliferation rates compared with wildtype.

Mutant bladders showed aberrant Tgf-beta (TGFB1; 190180) signaling concomitant with abnormal collagen deposition. (2010) identified homozygosity for a 1516C-T transition in exon 11 of the HPSE2 gene, resulting in an arg506-to-ter (R506X) substitution predicted to cause a truncated protein lacking 86 C-terminal amino acids. (2010) identified homozygosity for a 2-bp deletion (1465del AA) in exon 10 of the HPSE2 gene, predicted to cause a frameshift resulting in a larger protein of 613 amino acids with a completely different sequence for the last 125 residues. (2010) predicted that the frameshift would result in nonsense-mediated decay or in a readily-degraded unfolded protein.

All 3 proteins have an N-terminal transmembrane domain and a C-terminal heparin-binding motif.

HPA2AB and HPA2C differ from HPA2A by the insertion of 45 or 112 amino acids, respectively, after asp149.

The unaffected parents were heterozygous for the mutation, which was not found in 93 Pakistani controls. (2010) identified homozygosity for an in-frame deletion of exon 3 of the HPSE2 gene, resulting in removal of 54 amino acids from the protein.

On dot blots, there was also evidence that HPSE2 is expressed in the adult fore-, mid-, and lower gut and in both the adult and fetal kidney. (2014) found that the 580-amino acid Xenopus Hpse2 protein shares 80% identity with human HPSE2.