Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

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 mechani...

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