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...
Furkejuvvon:
| Materiálatiipa: | Online |
|---|---|
| Giella: | eaŋgalasgiella |
| Almmustuhtton: |
MDPI - Multidisciplinary Digital Publishing Institute
2023
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| Fáttát: | |
| Liŋkkat: | ONIX_20230511_9783036574615_143 |
| Fáddágilkorat: |
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| _version_ | 1869531187875151872 |
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| collection | Directory of Open Access Books |
| description | 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 are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways and cell death. Moreover, specific experimental therapies including drug discovery, drug repositioning, gene therapy and protein-based therapeutics are discussed. |
| format | Online |
| id | doab-20.500.12854ir-100126 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-1001262024-03-31T13:10:19Z Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies Condò, Ivano 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 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 are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways and cell death. Moreover, specific experimental therapies including drug discovery, drug repositioning, gene therapy and protein-based therapeutics are discussed. 2023-05-11T17:22:02Z 2023-05-11T17:22:02Z 2023 book ONIX_20230511_9783036574615_143 9783036574615 9783036574608 https://directory.doabooks.org/handle/20.500.12854/100126 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/7220 https://mdpi.com/books/pdfview/book/7220 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-7460-8 10.3390/books978-3-0365-7460-8 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036574615 9783036574608 250 Basel open access |
| spellingShingle | 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 Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies |
| title | Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies |
| title_full | Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies |
| title_fullStr | Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies |
| title_full_unstemmed | Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies |
| title_short | Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies |
| title_sort | rare monogenic diseases molecular pathophysiology and novel therapies |
| topic | 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 |
| topic_facet | 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 |
| url | ONIX_20230511_9783036574615_143 |