000			04326naaaa2200961uu 4500
001			https://directory.doabooks.org/handle/20.500.12854/69404
005			20220219215046.0
020			_abooks978-3-03943-684-2
020			_a9783039436835
020			_a9783039436842
024	7		_a10.3390/books978-3-03943-684-2 _cdoi
041	0		_aEnglish
042			_adc
072		7	_aM _2bicssc
100	1		_aEngelhardt, John _4edt
700	1		_aFerec, Claude _4edt
700	1		_aYan, Ziying _4edt
700	1		_aEngelhardt, John _4oth
700	1		_aFerec, Claude _4oth
700	1		_aYan, Ziying _4oth
245	1	0	_aMolecular Basis and Gene Therapies of Cystic Fibrosis
260			_aBasel, Switzerland _bMDPI - Multidisciplinary Digital Publishing Institute _c2020
300			_a1 electronic resource (210 p.)
506	0		_aOpen Access _2star _fUnrestricted online access
520			_aSummary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.
540			_aCreative Commons _fhttps://creativecommons.org/licenses/by/4.0/ _2cc _4https://creativecommons.org/licenses/by/4.0/
546			_aEnglish
650		7	_aMedicine _2bicssc
653			_acystic fibrosis
653			_aStaphylococcus aureus
653			_asuperantigen
653			_aenterotoxin gene cluster
653			_aMRSA
653			_aexosomes
653			_amicrovesicles
653			_alung
653			_aprimary cells
653			_anewborn screening
653			_atrypsinogen
653			_aCFTR gene
653			_anext generation sequencing
653			_ahealth policy
653			_arAAV2/HBoV1
653			_abaculovirus
653			_ainsect cells
653			_alung microbiome
653			_ametagenomics
653			_agut–lung axis
653			_aCystic fibrosis
653			_aCFTR
653			_atranscriptomics
653			_aproteostasis
653			_asmall molecules
653			_adrug development
653			_acommon and new pathogenic variants
653			_aethnic Russian population
653			_agene therapy
653			_acyclophosphamide
653			_atransient immunosuppression
653			_aincidence
653			_asurvival
653			_agenotype-phenotype correlations
653			_ahealth policies
653			_aCFTR modulators
653			_ahuman nasal epithelial cells
653			_aorganoids
653			_abiomarker
653			_afunctional assay
653			_apre-clinical in vitro models
653			_aCFTR-related disorders
653			_amolecular diagnosis
653			_aCFTR variants
653			_aNext Generation Sequencing (NGS)
653			_adisease liability
653			_ainterpretation
653			_apenetrance
653			_agenotype-guided therapy
653			_amiRNA
653			_aairway basal cell
653			_alentivirus
856	4	0	_awww.oapen.org _uhttps://mdpi.com/books/pdfview/book/3205 _70 _zDOAB: download the publication
856	4	0	_awww.oapen.org _uhttps://directory.doabooks.org/handle/20.500.12854/69404 _70 _zDOAB: description of the publication
999			_c46061 _d46061