Зображення обкладинки

Cellular and Molecular Mechanisms of Nephropathic Cystinosis

Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2). This devastating condition initially affects kidneys and subsequently many other organs including eyes, thyroid, panc...

Повний опис

Збережено в:
Формат: Online
Мова:Англійська
Опубліковано: MDPI - Multidisciplinary Digital Publishing Institute 2022
Предмети:
cystinosis
cysteamine
bone
osteoclast
genotype
CD34+ hematopoietic stem and progenitor cells
gene therapy
pre-clinical studies
investigational new drug application
clinical trial
disulfiram
mice
zebrafish
fertility
azoospermia
hypogonadism
histopathology
mouse model
lysosomal storage disease
cell and animal models
infantile nephropathic cystinosis
bone-muscle wasting
fibroblast growth factor 23
osteoclasts
sclerostin
leptin
fractures
nephropathic cystinosis
hollow fiber membrane
3-dimensional models
autophagy
macrophages
inflammasome
proximal tubular cells
endocytosis
apoptosis
chitotriosidase
interleukins
galectin-3
novel therapies
endolysosome
epithelial cell differentiation
homeostasis
lysosomal storage diseases
mitochondrial distress
kidney proximal tubule
programmed cell death
central nervous system
cortical atrophy
arterial spin labelling
cystine blood level
lysosomal storage disorder
history
treatment strategies for cystinosis
newborn screening
clinical course
CTNS-pathogenic variants
newborn screening for cystinosis
kidney progenitors
cell model
biomarkers
cystine
kidney
therapeutic monitoring
thema EDItEUR::M Medicine and Nursing
thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology
Онлайн доступ:ONIX_20220812_9783036545684_15
Теги: Додати тег
Немає тегів, Будьте першим, хто поставить тег для цього запису!

Інтернет

ONIX_20220812_9783036545684_15

Схожі ресурси