Heritable disorders of oxygen sensing
© 2021 The Author. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC..
Hypoxia-inducible factors (HIFs) activate gene transcription in response to reduced O2 availability and play critical roles in development, physiology, and disease pathogenesis. Mutations that dysregulate HIF activity are the genetic basis for tumor predisposition in the von Hippel-Lindau syndrome and excess red blood cell production in hereditary erythrocytosis.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:185 |
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| Enthalten in: |
American journal of medical genetics. Part A - 185(2021), 8 vom: 05. Aug., Seite 2576-2581 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Semenza, Gregg L [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 13.01.2022 Date Revised 13.01.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/ajmg.a.62250 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a Hypoxia-inducible factors (HIFs) activate gene transcription in response to reduced O2 availability and play critical roles in development, physiology, and disease pathogenesis. Mutations that dysregulate HIF activity are the genetic basis for tumor predisposition in the von Hippel-Lindau syndrome and excess red blood cell production in hereditary erythrocytosis | ||
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