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Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

The reprint, “Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies”, provides a collection of original research articles and systematic reviews focused on diverse conditions stemming from a pathogenic single gene mutation. The articles are focused on the molecular mechanisms that a...

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Format: Online
Language:English
Published: MDPI - Multidisciplinary Digital Publishing Institute 2023
Subjects:
mucopolysaccharidosis II
Hunter syndrome
adeno-associated viruses
genetic therapy
gene editing
review
CDKL5 deficiency disorder
GSK-3β
HDAC6
dual inhibitor
neuronal survival
hippocampal defects
synapse development
TMEM16A
ADPKD
polycystic kidneys
androgen
estrogen
CFTR
ARPKD
cyst
rare monogenic disease
nephrology
alpha-galactosidase A
Fabry disease
pharmacological chaperones
rare diseases
enzyme replacement therapy
purine metabolism
purinergic signaling
Huntington’s disease
multiple endocrine neoplasia type 1 (MEN1)
MEN1 gene
loss of heterozygosity (LOH)
microRNA (miRNAs)
miR-24
hemophilia
advanced therapies
gene therapy
FVIII transgene
FIX transgene
adeno-associated virus
lentiviral vectors
FXTAS
FXPOI
FXAND
premutation
blood
biomarker
FMR1
FMRP
endocrine
mitochondria
miRNA
transcription
GABA
telomere
factor V deficiency
parahemophilia
Owren’s disease
mutation analysis
Bartter syndrome
Gitelman syndrome
genetics
genetic diagnosis
therapeutic targets
hyponatremia
hypokalemia
hypercalciuria
hypomagnesemia
β-thalassemia
fetal hemoglobin
γ-globin
HbF induction
K562 cells
Cinchona alkaloids
cinchonidine
quinidine
cinchonine
combined treatments
n/a
thema EDItEUR::M Medicine and Nursing
Online Access:ONIX_20230511_9783036574615_143
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