TY - JOUR
T1 - Heritable disorders of oxygen sensing
AU - Semenza, Gregg L.
N1 - Publisher Copyright:
© 2021 The Author. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2021/11/1
Y1 - 2021/11/1
N2 - 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.
AB - 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.
KW - clear cell renal cell carcinoma
KW - congenital polycythemia
KW - hereditary erythrocytosis
KW - pulmonary hypertension
KW - von Hippel-Lindau syndrome
UR - http://www.scopus.com/inward/record.url?scp=85119089701&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85119089701&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.62521
DO - 10.1002/ajmg.a.62521
M3 - Review article
C2 - 34655169
AN - SCOPUS:85119089701
SN - 1552-4825
VL - 185
SP - 3334
EP - 3339
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 11
ER -