Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis
A González‐del Angel… - American Journal of …, 2016 - Wiley Online Library
Muenke syndrome (MS) is an autosomal dominant coronal craniosynostosis syndrome with
variable extracranial anomalies. We studied 56 unrelated patients with non‐syndromic uni …
variable extracranial anomalies. We studied 56 unrelated patients with non‐syndromic uni …
The crucial role of model systems in understanding the complexity of cell signaling in human neurocristopathies
S Cerrizuela, GA Vega‐Lopez… - WIREs Mechanisms …, 2022 - Wiley Online Library
Animal models are useful to study the molecular, cellular, and morphogenetic mechanisms
underlying normal and pathological development. Cell‐based study models have emerged …
underlying normal and pathological development. Cell‐based study models have emerged …
Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk
ZZ Zhao, PM Pollock, S Thomas, SA Treloar… - Human …, 2008 - academic.oup.com
BACKGROUND Endometriosis is a polygenic disease with a complex and multifactorial
aetiology that affects 8–10% of women of reproductive age. Epidemiological data support a …
aetiology that affects 8–10% of women of reproductive age. Epidemiological data support a …
FGF2 modulates cardiac remodeling in an isoform‐and sex‐specific manner
E Nusayr, DT Sadideen, T Doetschman - Physiological reports, 2013 - Wiley Online Library
Pathological cardiac hypertrophy and cardiac fibrosis are remodeling events that result in
mechanical stiffness and pathophysiological changes in the myocardium. Both humans and …
mechanical stiffness and pathophysiological changes in the myocardium. Both humans and …
Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation
L He, C Serrano, N Niphadkar, N Shobnam… - PLoS One, 2012 - journals.plos.org
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most
common form of human dwarfism. The G380R mutation accounts for 98% of the …
common form of human dwarfism. The G380R mutation accounts for 98% of the …
Biglycan is a novel binding partner of fibroblast growth factor receptor 3c (FGFR3c) in the human testis
Regulation of spermatogonial maintenance in the human testis is currently not well
understood. One pathway suggested to be involved is activated by fibroblast growth factor …
understood. One pathway suggested to be involved is activated by fibroblast growth factor …
Method of promoting hair growth using FGFR4 extracellular domains
T Brennan, R Dean, WM Kavanaugh… - US Patent …, 2013 - Google Patents
The present invention relates to a method of promoting hair growth comprising administering
a fibroblast growth factor receptor 4 (FGFR4) extracellular domain (ECD), including native …
a fibroblast growth factor receptor 4 (FGFR4) extracellular domain (ECD), including native …
FGF2 posttranscriptionally down-regulates expression of SDF1 in bone marrow stromal cells through FGFR1 IIIc
T Nakayama, N Mutsuga, G Tosato - Blood, 2007 - ashpublications.org
The chemokine stromal cell–derived factor-1 (SDF-1) is constitutively expressed by bone
marrow stromal cells and plays key roles in hematopoiesis. Fibroblast growth factor 2 …
marrow stromal cells and plays key roles in hematopoiesis. Fibroblast growth factor 2 …
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3
F Chen, S Sarabipour, K Hristova - PloS one, 2013 - journals.plos.org
The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for
Crouzon syndrome with Acanthosis Nigricans. Here we investigate the effect of this mutation …
Crouzon syndrome with Acanthosis Nigricans. Here we investigate the effect of this mutation …
Prostate cells express two isoforms of fibroblast growth factor receptor 1 with different affinities for fibroblast growth factor‐2
M Roghani, D Moscatelli - The Prostate, 2007 - Wiley Online Library
Background Fibroblast growth factor receptor 1 (FGFR1) mRNA can be alternatively spliced
to generate isoforms containing (FGFR1α) or lacking (FGFR1β) the first immunoglobulin‐like …
to generate isoforms containing (FGFR1α) or lacking (FGFR1β) the first immunoglobulin‐like …