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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Bibliographic Details
Corporate Author:	Condò, Ivano
Format:	Livro
Language:	Inglês
Published:	MDPI - Multidisciplinary Digital Publishing Institute 2023
Subjects:	bic Book Industry Communication::M Medicine 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
Online Access:	https://directory.doabooks.org/handle/20.500.12854/100126
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Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

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