Disease: Thanatophoric dysplasia- type 2
- A case of thanatophoric dysplasia type 2: a novel mutation
- A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia
- A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia
- A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia
- Abnormal expression of cell adhesion molecule L1 in migration disorders: a developmental immunohistochemical study
- Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations
- Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy
- Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma
- Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia
- Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
- Analysis of skeletal dysplasias in the Utah population
- Antenatal diagnosis of lethal skeletal dysplasias
- C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model
- C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia
- Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria
- Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal
- Cloverleaf skull and bilateral facial clefts
- Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability
- Common arterial trunk with thanatophoric dysplasia: a unique case
- Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
- Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis
- Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias
- Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I
- Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras
- Constitutively activated FGFR3 mutants signal through PLCgamma-dependent and -independent pathways for hematopoietic transformation
- Development of individuals with thanatophoric dysplasia surviving beyond infancy
- Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD
- Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II
- Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)
- Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization
- Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)
- Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis
- Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
- Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases
- Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
- FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1
- FGFR3 induces degradation of BMP type I receptor to regulate skeletal development
- FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway
- FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met
- Fibroblast growth factor receptor 3 (FGFR3) - analyses of the S249C mutation and protein expression in primary cervical carcinomas
- Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
- Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia
- Genetic examination for fetuses with increased nuchal translucency by exome sequencing
- Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation
- Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
- HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia
- Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1
- Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations
- Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia
- K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways
- Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases
- Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia
- Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
- Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes
- Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation
- Mutational activation of FGFR3: no involvement in the development of renal cell carcinoma
- Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts
- Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach
- Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
- Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration
- Nordihydroguaiaretic acid inhibits an activated fibroblast growth factor receptor 3 mutant and blocks downstream signaling in multiple myeloma cells
- Overexpression of Spry1 in chondrocytes causes attenuated FGFR ubiquitination and sustained ERK activation resulting in chondrodysplasia
- Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations
- Post-mortem cytogenomic investigations in patients with congenital malformations
- Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia
- Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction
- Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia
- Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
- Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography
- Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis
- Prenatal sonographic diagnosis of skeletal dysplasias
- Proposal of patient-specific growth plate cartilage xenograft model for FGFR3 chondrodysplasia
- PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutation
- Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II
- Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
- Reduced binding of FGF1 to mutant fibroblast growth factor receptor 3
- Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
- Skeletal dysplasias: 38 prenatal cases
- Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
- Some chondrodysplasias with short limbs: molecular perspectives
- Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination
- Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia
- Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
- Structural mimicry of a-loop tyrosine phosphorylation by a pathogenic FGF receptor 3 mutation
- Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type
- Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1
- Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <em>FGFR3-</em>Related Skeletal Dysplasias
- Thanatophoric Dysplasia
- Thanatophoric dysplasia type 2 with encephalocele during the second trimester
- Thanatophoric dysplasia type I: a rare case report at fetal autopsy
- Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis
- Thanatophoric dysplasia: A brief neuropathological review
- Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis
- Thanatophoric dysplasia: report of 2 cases with neuropathological study
- Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis
- The cytoplasmic tyrosine kinase Pyk2 as a novel effector of fibroblast growth factor receptor 3 activation
- The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas
- The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor
- Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia
- Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports