The microbiome in cystic fibrosis pulmonary disease
A Françoise, G Héry-Arnaud - Genes, 2020 - mdpi.com
Cystic fibrosis (CF) is a genetic disease with mutational changes leading to profound
dysbiosis, both pulmonary and intestinal, from a very young age. This dysbiosis plays an …
dysbiosis, both pulmonary and intestinal, from a very young age. This dysbiosis plays an …
The impact of the CFTR gene discovery on cystic fibrosis diagnosis, counseling, and preventive therapy
PM Farrell, MJ Rock, MW Baker - Genes, 2020 - mdpi.com
Discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was the
long-awaited scientific advance that dramatically improved the diagnosis and treatment of …
long-awaited scientific advance that dramatically improved the diagnosis and treatment of …
Defining and identifying early‐onset lung disease in cystic fibrosis with cumulative clinical characteristics
L Huang, HCJ Lai, N Antos, MJ Rock… - Pediatric …, 2022 - Wiley Online Library
Background Because of the heterogeneity in cystic fibrosis (CF) lung disease among young
children, a clinical method to identify early‐onset lung disease is needed. Objective To …
children, a clinical method to identify early‐onset lung disease is needed. Objective To …
[PDF][PDF] Novel applications of biomarkers and personalized medicine in cystic fibrosis
JS Guimbellot, DP Nichols, JJ Brewington - Clinics in Chest Medicine, 2022 - Elsevier
The rapid pace of recent advancements in CF has led to significant improvements in patient
outcomes and has created new opportunities to personalize care decisions. Numerous …
outcomes and has created new opportunities to personalize care decisions. Numerous …
Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements
Background & aims Children with cystic fibrosis (CF) are susceptible to fat-soluble vitamin
deficiencies unless supplemented, but even large doses of vitamin D may not prevent low …
deficiencies unless supplemented, but even large doses of vitamin D may not prevent low …
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
C Xu, Y Tang, L Dong, Y Shen - Pediatric Pulmonology, 2023 - Wiley Online Library
Background Despite the growing awareness of cystic fibrosis (CF) in China, few cases have
been reported in Henan, which is the most populous province in the country. This study …
been reported in Henan, which is the most populous province in the country. This study …
The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease
NP Mohar, EM Cox, E Adelizzi, SA Moore… - International journal of …, 2024 - mdpi.com
Mutations in the LMNA gene-encoding A-type lamins can cause Limb–Girdle muscular
dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the …
dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the …
Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease
Human plasminogen (PLG), the zymogen of the fibrinolytic protease, plasmin, is a
polymorphic protein with two widely distributed codominant alleles, PLG/Asp453 and …
polymorphic protein with two widely distributed codominant alleles, PLG/Asp453 and …
Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis
AT Braun, HCJ Lai, A Laxova, JA Biller… - Journal of Cystic …, 2024 - Elsevier
Vitamin D sufficiency has been difficult to achieve consistently in patients with cystic fibrosis
(CF), even with robust oral supplements. To assess vitamin D status and resistance to …
(CF), even with robust oral supplements. To assess vitamin D status and resistance to …
[HTML][HTML] Association between cystic fibrosis severity markers and CFTR genotypes in Turkish children
AE Başaran, A Başaran, DFK Uygun… - Turkish Thoracic …, 2021 - ncbi.nlm.nih.gov
OBJECTIVE: To compare class I/II cystic fibrosis transmembrane conductance regulator
(CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity …
(CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity …