FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. [PDF]
, 2017 Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed ...
Aguilar, Miriam +13 more
core +2 more sources
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
core
Congenital malformations [PDF]
, 2012 Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core +1 more source
A rare case of neonatal dwarfism – Answer
Journal of Pediatric and Neonatal Individualized Medicine, 2022 We show a case of thanatophoric dysplasia (TD), in which the diagnosis was allowed by the identification of pathognomonic aspects at physical examination and by the whole body radiography.
Manuela Gallo +5 more
doaj +1 more source
Elevated fibroblast growth factor signaling is critical for the pathogenesis of the dwarfism in Evc2/Limbin mutant mice [PDF]
, 2016 Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two ...
Allen, Benjamin +13 more
core +5 more sources
The unexpected presence of a huge cystic hygroma with thanatophoric dysplasia type I: a case report [PDF]
, 2015 Introduction: The presence of a thin-walled, multicystic structure posterior to the fetal head and neck with an intact vertebral column is known as a cystic hygroma. Thanatophoric dysplasia is the most lethal skeletal dysplasia.
Abbas, Ahmed M. +4 more
core +2 more sources
Fibroblast growth factor receptor 3 activation plays a causative role in urothelial cancer pathogenesis in cooperation with Pten loss in mice [PDF]
, 2014 Although somatic mutations and overexpression of the tyrosine kinase fibroblast growth factor receptor 3 (FGFR3) are strongly associated with bladder cancer, evidence for their functional involvement in the pathogenesis remains elusive.
Ahmad +48 more
core +1 more source
Cardiac interventions in patients with achondroplasia: a systematic review. [PDF]
, 2020 Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population.
Choi, Jae Hwan +6 more
core +1 more source
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. [PDF]
PLoS ONE, 2009 Endochondral ossification is the process by which the appendicular skeleton, facial bones, vertebrae and medial clavicles are formed and relies on the tight control of chondrocyte maturation. Fibroblast growth factor receptor (FGFR)3 plays a role in bone
Laurent Schibler +10 more
doaj +1 more source
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans [PDF]
, 2017 Specific germline activating point mutations in the gene encoding the tyrosine kinase receptor FGFR3 (fibroblast growth factor receptor 3) result in autosomal dominant human skeletal dysplasias.
Blanche, Martine +11 more
core