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Studies of Epithelial Transporters and Ion Channels
This book discusses unique ion channels and transporters that are located within epithelial tissues of various organs including the kidney, intestine, pancreas and respiratory tract. The authors will show, that each of these channels and transporters play crucial roles in transepithelial ion and fluid transport across epithelia and their responsibility in maintaining homeostasis. The reader gains an understanding of the fundamentals of epithelial ion transport, in terms of function, modelling, regulation, trafficking, structure and pharmacology. This is the third of three volumes highlighting the importance of epithelial ion channels and transporters in basic physiology and pathophysiology o...
The Role of Pendrin in Health and Disease
This book reviews the current state of knowledge on the genetics, molecular biology and physiology of pendrin, with a particular focus on pendrin dysfunction and the consequences for human health. Pendrin is a membrane transport protein expressed in the thyroid, inner ear, kidney and airways, and was recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease called Pendred syndrome or non-syndromic deafness. The book provides a thorough description of the multifaceted role of pendrin in human health and disease. As such, it offers an invaluable tool for physiology and pathology researchers, while also providing essential guidance for otorhinolaryngologists and endocrinologists in the diagnosis of Pendred syndrome and pendrin-related deafness.
Hodson and Geddes' Cystic Fibrosis
Cystic Fibrosis has seen dramatic advances in treatment since the last edition, including targeted cystic fibrosis transmembrane conductance regulator (CFTR) protein modulators for most CFTR gene abnormalities. This new fifth edition is an update and expansion of the rapid clinical and scientific advances in improving prognosis, and the impact of COVID-19, all of which has transformed conventional models of care. It covers basic science, such as how detailed understanding of the biology of the CFTR gene and protein has led to novel and beneficial therapies, as well as all aspects of clinical management in high-, middle- and low-income settings and the voices of individuals with CF from acros...
Correre per un respiro
«Sono Rachele e ho 29 anni. A un mese dalla nascita, è stato detto ai miei genitori che avevo la fibrosi cistica, una malattia genetica degenerativa da cui non si può guarire. La malattia non si vede perché colpisce principalmente gli organi interni; tutte le secrezioni sono alterate e molto dense, il muco ristagna ed è difficile respirare. Quando sono stata invitata a un evento della Fondazione per la Ricerca sulla Fibrosi Cistica, mi sono chiesta: come faccio a unire la mia passione per i motori con quello che mi sta più a cuore? E ho inventato il progetto Correre per un respiro, che porto con me dalla prima gara. A dire il vero ho iniziato un po’ per caso, spinta dalla passione di...
