KEGG   VARIANT: 5618v1
Entry
5618v1                      Variant                                
Name
PRLR mutation
Type
Loss of function
Gene
PRLR  prolactin receptor [KO:K05081]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176761
Network
nt06325  Hormone/cytokine signaling
nt06518  JAK-STAT signaling
Disease
H01388  Hyperprolactinemia
Reference
PMID:24195502
  Authors
Newey PJ, Gorvin CM, Cleland SJ, Willberg CB, Bridge M, Azharuddin M, Drummond RS, van der Merwe PA, Klenerman P, Bountra C, Thakker RV
  Title
Mutant prolactin receptor and familial hyperprolactinemia.
  Journal
N Engl J Med 369:2012-20 (2013)
DOI:10.1056/NEJMoa1307557
Reference
PMID:12370275
  Authors
Schuff KG, Hentges ST, Kelly MA, Binart N, Kelly PA, Iuvone PM, Asa SL, Low MJ
  Title
Lack of prolactin receptor signaling in mice results in lactotroph proliferation and prolactinomas by dopamine-dependent and -independent mechanisms.
  Journal
J Clin Invest 110:973-81 (2002)
DOI:10.1172/JCI15912
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