ABCMdb

PMID: 23688510

Servidoni MF, Sousa M, Vinagre AM, Cardoso SR, Ribeiro MA, Meirelles LR, de Carvalho RB, Kunzelmann K, Ribeiro AF, Ribeiro JD, Amaral MD
Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility.
BMC Gastroenterol. 2013 May 20;13:91. doi: 10.1186/1471-230X-13-91., [PubMed]

Sentences

No. Mutations Sentence Comment

89 ABCC7 p.Pro205Ser ABCC7 p.Pro205Ser As shown in Figure 3B, we were able to detect CFTR protein at the plasma membrane for both wt-CFTR and F508del/P205S-CFTR (P205S is a class IV mutation), but F508del/F508del-CFTR was retained into cytoplasm, close to the basolateral membrane. Login to comment 90 ABCC7 p.Arg334Trp These findings were in accordance with the maturation pattern of CFTR protein (Figure 3C), which was found to be fully-glycosylated (presence of band C) for wt-CFTR and another class IV CFTR-mutant (R334W), Table 1 Summary of macroscopic evaluation data and bioelectrical measurements (Rte) of rectal biopsies vs. bowel preparation and biopsy forceps Bowel Preparation NaCl 0.9% Glycerol 12% Mannitol 20% Biopsy Forceps Jumbo Standard Jumbo Standard Jumbo Standard Tissue integrity 1.00 &#b1; 0.11 2.00 &#b1; 0.35 1.48 &#b1; 0.31 2.21 &#b1; 0.23 1.02 &#b1; 0.02 1.97 &#b1; 0.30 Friability 1.23 &#b1; 0.12 1.36 &#b1; 0.24 1.50 &#b1; 0.31 1.81 &#b1; 0.22 1.13 &#b1; 0.33 1.33 &#b1; 0.25 Bleeding 1.01 &#b1; 0.08 1.21 &#b1; 0.18 1.27 &#b1; 0.21 1.16 &#b1; 0.29 1.05 &#b1; 0.22 0.83 &#b1; 0.32 Mucus 1.12 &#b1; 0.11 1.18 &#b1; 0.17 0.91 &#b1; 0.24 0.88 &#b1; 0.13 0.74 &#b1; 0.13 1.06 &#b1; 0.13 Sub-mucosa (n) Yes 16 3 3 1 2 1 No 42 9 4 4 12 10 Rte (a9;.cm2 ) 21.82 &#b1; 1.03 14.37 &#b1; 1.21 18.75 &#b1; 2.66 13.57 &#b1; 2.70 18.69 &#b1; 0.98 13.32 &#b1; 1.11 NOTE: Results are mean &#b1; SEM; n = 107. Login to comment 104 ABCC7 p.Pro205Ser Images evidence CFTR at the membrane in a non-CF tissue (top panels) and also, albeit weaker, in a biopsy from a CF patient with the F508del/P205S-CFTR genotype (bottom panels). Login to comment 108 ABCC7 p.Arg334Trp C) Western blot of a single rectal biopsy from non-CF individuals (wt-CFTR, lanes 1-2) and from a CF patient with F508del/R334W-CFTR genotype (lane 3) evidence the presence of both immature and mature forms of CFTR (bands B and C, respectively; and from a CF patient with the F508del/F508del-CFTR genotype (lane 4) evidencing only immature form (band B) which is characteristic of the endoplasmic reticulum (ER) and thus corroborating the traffic defect associated with this mutation. Login to comment 263 ABCC7 p.Gly551Asp Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordo&#f1;ez CL, Campbell PW, Ashlock MA, Ramsey BW: Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. Login to comment