[HTML][HTML] Role of FGFR3 in bladder cancer: Treatment landscape and future challenges

CM Ascione, F Napolitano, D Esposito… - Cancer Treatment …, 2023 - Elsevier
Bladder cancer is a heterogeneous malignancy and is responsible for approximately 3.2%
of new diagnoses of cancer per year (Sung et al., 2021). Fibroblast Growth Factor Receptors …

Fibroblast growth factor signaling in skeletal development and disease

DM Ornitz, PJ Marie - Genes & development, 2015 - genesdev.cshlp.org
Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate
skeletal development. FGF signaling regulates development of the limb bud and formation of …

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

J Zhang, J Li, JB Saucier, Y Feng, Y Jiang, J Sinson… - Nature medicine, 2019 - nature.com
Current non-invasive prenatal screening is targeted toward the detection of chromosomal
abnormalities in the fetus,. However, screening for many dominant monogenic disorders …

Short and tall stature: a new paradigm emerges

J Baron, L Sävendahl, F De Luca, A Dauber… - Nature Reviews …, 2015 - nature.com
In the past, the growth hormone (GH)–insulin-like growth factor 1 (IGF-1) axis was often
considered to be the main system that regulated childhood growth and, therefore …

Achondroplasia: Development, pathogenesis, and therapy

DM Ornitz, L Legeai‐Mallet - Developmental dynamics, 2017 - Wiley Online Library
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause
achondroplasia (Ach), the most common form of dwarfism in humans, and related …

Mechanism of FGF receptor dimerization and activation

S Sarabipour, K Hristova - Nature communications, 2016 - nature.com
Fibroblast growth factors (fgfs) are widely believed to activate their receptors by mediating
receptor dimerization. Here we show, however, that the FGF receptors form dimers in the …

The origins, patterns and implications of human spontaneous mutation

JF Crow - Nature Reviews Genetics, 2000 - nature.com
The germline mutation rate in human males, especially older males, is generally much
higher than in females, mainly because in males there are many more germ-cell divisions …

[图书][B] Human evolutionary genetics: origins, peoples and disease

M Jobling, C Tyler-Smith - 2019 - taylorfrancis.com
Human Evolutionary Genetics is a groundbreaking text which for the first time brings
together molecular genetics and genomics to the study of the origins and movements of …

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease

DM Ornitz, PJ Marie - Genes & development, 2002 - genesdev.cshlp.org
Over the last decade the identification of mutations in the receptors for fibroblast growth
factors (FGFs) has defined essential roles for FGF signaling in both endochondral and …

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

A Goriely, AOM Wilkie - The American Journal of Human Genetics, 2012 - cell.com
Advanced paternal age has been associated with an increased risk for spontaneous
congenital disorders and common complex diseases (such as some cancers, schizophrenia …