TY - JOUR
T1 - Heritable disorders of oxygen sensing
AU - Semenza, Gregg L.
N1 - Funding Information:
Gregg L. Semenza is an American Cancer Society Research Professor and the C. Michael Armstrong Professor of Genetic Medicine at the Johns Hopkins University School of Medicine. Research in his lab is supported by grants from the American Cancer Society and the Armstrong Family Foundation.
Funding Information:
Gregg L. Semenza is an American Cancer Society Research Professor and the C. Michael Armstrong Professor of Genetic Medicine at the Johns Hopkins University School of Medicine. Research in his lab is supported by grants from the American Cancer Society and the Armstrong Family Foundation.
Publisher Copyright:
© 2021 The Author. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2021/8
Y1 - 2021/8
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
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U2 - 10.1002/ajmg.a.62250
DO - 10.1002/ajmg.a.62250
M3 - Review article
C2 - 33973706
AN - SCOPUS:85105569841
SN - 1552-4825
VL - 185
SP - 2576
EP - 2581
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -