PMID- 28655741
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 2046-6390 (Print)
IS  - 2046-6390 (Electronic)
IS  - 2046-6390 (Linking)
VI  - 6
IP  - 8
DP  - 2017 Aug 15
TI  - Genetic deletion of amphiregulin restores the normal skin phenotype in a mouse 
      model of the human skin disease tylosis.
PG  - 1174-1179
LID - 10.1242/bio.026260 [doi]
AB  - In humans, gain-of-function (GOF) mutations in RHBDF2 cause the skin disease 
      tylosis. We generated a mouse model of human tylosis and show that GOF mutations 
      in RHBDF2 cause tylosis by enhancing the amount of amphiregulin (AREG) secretion. 
      Furthermore, we show that genetic disruption of AREG ameliorates skin pathology 
      in mice carrying the human tylosis disease mutation. Collectively, our data 
      suggest that RHBDF2 plays a critical role in regulating EGFR signaling and its 
      downstream events, including development of tylosis, by facilitating enhanced 
      secretion of AREG. Thus, targeting AREG could have therapeutic benefit in the 
      treatment of tylosis.
CI  - (c) 2017. Published by The Company of Biologists Ltd.
FAU - Hosur, Vishnu
AU  - Hosur V
AUID- ORCID: 0000-0003-2084-1723
AD  - The Jackson Laboratory, Bar Harbor, ME 04609, USA vishnu.hosur@jax.org.
FAU - Low, Benjamin E
AU  - Low BE
AD  - The Jackson Laboratory, Bar Harbor, ME 04609, USA.
FAU - Shultz, Leonard D
AU  - Shultz LD
AD  - The Jackson Laboratory, Bar Harbor, ME 04609, USA.
FAU - Wiles, Michael V
AU  - Wiles MV
AD  - The Jackson Laboratory, Bar Harbor, ME 04609, USA.
LA  - eng
GR  - P30 CA034196/CA/NCI NIH HHS/United States
GR  - R21 OD023800/OD/NIH HHS/United States
PT  - Journal Article
DEP - 20170815
PL  - England
TA  - Biol Open
JT  - Biology open
JID - 101578018
PMC - PMC5576083
OTO - NOTNLM
OT  - Amphiregulin
OT  - CRISPR/Cas9
OT  - EGFR
OT  - RHBDF2
OT  - Tylosis
COIS- Competing interestsThe authors declare no competing or financial interests.
EDAT- 2017/06/29 06:00
MHDA- 2017/06/29 06:01
PMCR- 2017/06/27
CRDT- 2017/06/29 06:00
PHST- 2017/06/29 06:00 [pubmed]
PHST- 2017/06/29 06:01 [medline]
PHST- 2017/06/29 06:00 [entrez]
PHST- 2017/06/27 00:00 [pmc-release]
AID - bio.026260 [pii]
AID - BIO026260 [pii]
AID - 10.1242/bio.026260 [doi]
PST - epublish
SO  - Biol Open. 2017 Aug 15;6(8):1174-1179. doi: 10.1242/bio.026260.