PMID- 24618404
OWN - NLM
STAT- MEDLINE
DCOM- 20141112
LR  - 20211021
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 9
DP  - 2014 Mar 12
TI  - Stuve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and 
      etiology.
PG  - 34
LID - 10.1186/1750-1172-9-34 [doi]
AB  - Stuve-Wiedemann syndrome (STWS; OMIM #610559) is a rare bent-bone dysplasia that 
      includes radiologic bone anomalies, respiratory distress, feeding difficulties, 
      and hyperthermic episodes. STWS usually results in infant mortality, yet some 
      STWS patients survive into and, in some cases, beyond adolescence. STWS is caused 
      by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is 
      inherited in an autosomally recessive pattern. Most LIFR mutations resulting in 
      STWS are null mutations which cause instability of the mRNA and prevent the 
      formation of LIFR, impairing the signaling pathway. LIFR signaling usually 
      follows the JAK/STAT3 pathway, and is initiated by several interleukin-6-type 
      cytokines. STWS is managed on a symptomatic basis since there is no treatment 
      currently available.
FAU - Mikelonis, Dawn
AU  - Mikelonis D
FAU - Jorcyk, Cheryl L
AU  - Jorcyk CL
FAU - Tawara, Ken
AU  - Tawara K
FAU - Oxford, Julia Thom
AU  - Oxford JT
AD  - Boise State University, Department of Biological Sciences, Biomolecular Research 
      Center, 1910 University Drive, Boise State University, Boise ID 83725, USA. 
      joxford@boisestate.edu.
LA  - eng
GR  - P20 GM103408/GM/NIGMS NIH HHS/United States
GR  - P20 RR016454/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20140312
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
RN  - 0 (Cytokines)
RN  - 0 (LIFR protein, human)
RN  - 0 (Leukemia Inhibitory Factor Receptor alpha Subunit)
RN  - Stuve-Wiedemann syndrome
SB  - IM
MH  - Cytokines/*physiology
MH  - Exostoses, Multiple Hereditary/etiology/genetics/*physiopathology
MH  - Humans
MH  - Infant, Newborn
MH  - Leukemia Inhibitory Factor Receptor alpha Subunit/metabolism/*physiology
MH  - Mutation
MH  - Osteochondrodysplasias/etiology/genetics/*physiopathology
MH  - Signal Transduction
PMC - PMC3995696
EDAT- 2014/03/13 06:00
MHDA- 2014/11/13 06:00
PMCR- 2014/03/12
CRDT- 2014/03/13 06:00
PHST- 2013/11/23 00:00 [received]
PHST- 2014/03/06 00:00 [accepted]
PHST- 2014/03/13 06:00 [entrez]
PHST- 2014/03/13 06:00 [pubmed]
PHST- 2014/11/13 06:00 [medline]
PHST- 2014/03/12 00:00 [pmc-release]
AID - 1750-1172-9-34 [pii]
AID - 10.1186/1750-1172-9-34 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2014 Mar 12;9:34. doi: 10.1186/1750-1172-9-34.