ARTICLES Normal Function of the Cystic Fibrosis Conductance Regulator Protein Can Be Associated with Homozygous ⌬F508 Mutation ISABELLE SERMET-GAUDELUS, BENOIT VALLÉE, ILSE URBIN, TANIA TOROSSI, RÉMI MARIANOVSKI, ANNE FAJAC, MARIE-NOËLLE FEUILLET, JEAN-LOUIS BRESSON, GÉRARD LENOIR, JEAN...
Variability of pulmonary function in alpha-1-antitrypsin deficiency: residual family resemblance beyond the effect of the Pi lo- cus. Hum. Hered. 40:340... EK Silverman,MA Province,EJ Campbell,... - 《Human Heredity》 被引量: 81发表: 1990年 CFTR! Unique for this family of proteins, the...
CFTR is normally expressed in ciliated epithelial cells of the surface and submucosal gland ductal epithelium and submucosal gland acinar cells. Critical questions for the development of gene transfer strategies for CF airway disease are what airway regions require CFTR function and how many epithelial ...
The regulation and transport function of CFTR are dependent of the state of differentiation and polarisation of epithelial cell cultures [125, 126]. Dedifferentiation with hyperplasia or metaplasia was associated with an intracellular localisation or absence of CFTR protein [122]. Hurbain et al. [...
Functional expression of alternative CaCC in airway epithelia, distinct from CFTR, has been well documented in previous studies (1– 8). CaCC is activated by the extracellular nucleo- tides (ATP and UTP) and other Ca2ϩ-increasing agonists. The Received March 25, 2002; accepted August 29, ...
In 1989, showing the expression of " Porin 31HL" in the plasmalemma of human B lymphocytes , our laboratory gave first evidence on the multitopological localization of VDAC. Looking for a function of the channel in the outer cell membrane, we referred to five corresponding traits shared by ...
In 1989, showing the expression of “Porin 31HL” in the plasmalemma of human B lymphocytes, our laboratory gave first evidence on the multitopological localization of VDAC. Looking for a function of the channel in the outer cell membrane, we referred to five corresponding traits shared by “...
and a function calculation procedure to calculate a function of the chosen points over the dot product, the force effect distance, and the boundary distance; taking the calculated function as a final determining function and taking the point within the chosen points which minimizes the final determi...
We propose that this small amount of normally spliced mRNA is associated with synthesis of some normal CFTR protein, and accounts for the mild phenotype. Further characterization of epithelial function and clinical phenotype in patients bearing this form of mutation, termed a type V mutation, ...
It certainly will be a challenge to educate the public about the complexities of fragile X testing, as the issues involved are not only just related to mental retardation but also have neuropsychologic (memory and function), physical (FXTAS), and reproductive (POI) im- plications, in addition...