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 …

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 …

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 …

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 …

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 …

Biglycan is a novel binding partner of fibroblast growth factor receptor 3c (FGFR3c) in the human testis

SB Winge, J Nielsen, A Jørgensen, S Owczarek… - Molecular and cellular …, 2015 - Elsevier
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 …

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 …

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 …

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 …

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 …