*  Apert syndrome - Vitamin Life
... autosomal dominant trait, craniosurgery, craniosynostosis, FGFR2 gene, fibroblast growth factor receptor 2, fibroblast growth ... Patients should talk to their doctor to determine the type of hearing aid that is best for them. A behind-the-ear device is ... Apert syndrome is caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. This gene is located on ... patient's blood is taken and analyzed in a laboratory for the presence of a mutation in the fibroblast growth factor receptor 2 ...
  http://www.livingnaturally.com/ns/DisplayMonograph.asp?StoreID=15F522D98A3A417FBE8D6702F135785A&DocID=condition-apertsyndrome
*  Thanatophoric dysplasia - Wikipedia
It can be associated with missense mutations in fibroblast growth factor receptor-3. It is inherited in an autosomal dominant ... "The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which ... Vajo, Zoltan; Francomano CA; Wilkin DJ (2000). "The molecular and genetic basis of fibroblast growth factor receptor 3 ... Norman AM, Rimmer S, Landy S, Donnai D (1992). "Thanatophoric dysplasia of the straight-bone type (type 2)". Clin. Dysmorphol. ...
  https://en.wikipedia.org/wiki/Thanatophoric_dysplasia
*  Musculoskeletal and Connective Tissue Flashcards by Languages 247365 | Brainscape
Constitutive activation of Fibroblast Growth Factor Receptor 3 (FGFR3) inhibits chondrocyte proliferation. More than 85% of ... Condition also shows Autosomal Dominant inheritance Dwarfism. Normal lifespan and fertility 93 ... Type III hypersensitivity reaction Pannus formation in joints (MCP and PIP), Increased synovial fluid, Bone and Cartilage ... "etanerCEPT is a TNF decoy reCEPTor". TNFα inhibitors Fusion protein: receptor for TNFα and IgG1 Fc produced by recombinant DNA ...
  https://www.brainscape.com/flashcards/musculoskeletal-and-connective-tissue-5260385/packs/7791693
*  FGF23 elisa kit | Human Fibroblast Growth Factor 23 (FGF23) ELISA Kit-NP 065689.1
Human Fibroblast Growth Factor 23 (FGF23) ELISA Kit-NP_065689.1 (MBS2021834) product datasheet at MyBioSource, ELISA Kits ... Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR). ADHR is characterized by low serum ... fibroblast growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; positive regulation of ... Molecular Function: growth factor activity; type 1 fibroblast growth factor receptor binding. Biological Process: epidermal ...
  https://www.mybiosource.com/prods/ELISA-Kit/Human/Fibroblast-Growth-Factor-23-FGF23/FGF23/datasheet.php?products_id=2021834
*  Pfeiffer syndrome - Wikipedia
... on chromosome 8 or the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. These genes code for fibroblast ... This type is inherited in an autosomal dominant pattern. Most individuals with type 1 Pfeiffer syndrome have normal ... 1994). "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome". Nat Genet. 8 (3): 269-74. doi: ... Pfeiffer syndrome is strongly associated with mutations of the fibroblast growth factor receptor 1 (FGFR1) ...
  https://en.wikipedia.org/wiki/Pfeiffer_syndrome
*  FGFR2 peptide (ab76150) | Abcam
Fibroblast growth factor receptor subfamily.. Contains 3 Ig-like C2-type (immunoglobulin-like) domains.. Contains 1 protein ... Three subtypes of Pfeiffer syndrome have been described: mild autosomal dominant form (type 1); cloverleaf skull, elbow ... LADDS is an autosomal dominant syndrome characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup- ... Defects in FGFR2 are the cause of Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]. BSCGS is an autosomal dominant ...
  http://www.abcam.com/fgfr2-peptide-ab76150.html
*  Fibroblast growth factor receptor 1 - Wikipedia
... and numerous other autosomal dominant inactivating mutations in FGFR1 are responsible for ~10% of the cases of Kallmann ... The exact pathways and elements activated depend on the cell type being stimulated plus other factors such as the stimulated ... with eosinophil such as those caused by Platelet-derived growth factor receptor A or platelet-derived growth factor receptor B ... Fibroblast growth factor receptor 1 (FGFR1), also known as basic fibroblast growth factor receptor 1, fms-related tyrosine ...
  https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_1
*  Anti-Jagged1 antibody (ab7771) | Abcam
Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). ... Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis ... By product type. Proteins and Peptides. Proteomics tools. Agonists, activators, antagonists and inhibitors. Lysates. Multiplex ... Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions ...
  https://www.abcam.com/jagged1-antibody-ab7771.html
*  EURORAD - Radiologic Teaching Files
... dysplasia is an autosomal dominant disorder which is caused due to specific mutation in Fibroblast growth factor receptor 3 ... located on short arm of chromosome 4 [3]. It is of two types, type I and type II. Type I Thanatophoric dysplasia has ... type I and type II thanatophoric dysplasia [4]. Cause of death in most cases is respiratory failure due to pulmonary hypoplasia ... Severe rhizomelic type of micromelia associated with bowing of long bones giving telephone handle appearance of femur, narrowed ...
  http://www.eurorad.org/eurorad/case.php?id=15213&teaching=true
*  WikiGenes - Genetic Screening
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. ... Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Drenth, J.P ... Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and ... of the fibroblast growth factor receptor 3 gene (FGFR3) in a Russian population, a cohort of 16 patients with hypochondroplasia ...
  https://www.wikigenes.org/e/mesh/e/5454.html
*  COL1A1 (human)
Type Vii, Autosomal Dominant; Osteogenesis Imperfecta, Type I; Osteogenesis Imperfecta, Type Ii; Osteogenesis Imperfecta, Type ... cellular response to epidermal growth factor stimulus; cellular response to fibroblast growth factor stimulus; cellular ... collagen-activated tyrosine kinase receptor signaling pathway; embryonic skeletal system development; endochondral ossification ... Defects in COL1A1 are the cause of Ehlers-Danlos syndrome type 7A (EDS7A); also known as autosomal dominant Ehlers-Danlos ...
  https://www.phosphosite.org/proteinAction?id=7512&showAllSites=true
*  OriGene - FGFR1 (NM 023110) Human ORF cDNA Clone
... transcript variant 1 as transfection-ready DNA available for purchase from OriGene - Your Gene Company. ... Myc-DDK-tagged ORF clone of Homo sapiens fibroblast growth factor receptor 1 (FGFR1), ... Fgfr1 (untagged) - Mouse fibroblast growth factor receptor 1 (Fgfr1), transcript variant 3, (10ug). $910. Next day. ... and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell ...
  http://www.origene.com/orf_clone/Search/retrieve_results.mspx?sku=RC403386
*  Frontiers | The Novel Actions of the Metabolite GnRH-(1-5) are Mediated by a G Protein-Coupled Receptor | Endocrinology
Furthermore, we demonstrate these actions are mediated by the activation of a G protein-coupled receptor (GPCR). Our findings ... Furthermore, we demonstrate these actions are mediated by the activation of a G protein-coupled receptor (GPCR). Our findings ... The focus of this review will be on the current evidence for the action of the pentapeptide metabolite GnRH-(1-5) in regulating ... The focus of this review will be on the current evidence for the action of the pentapeptide metabolite GnRH-(1-5) in regulating ...
  https://www.frontiersin.org/articles/10.3389/fendo.2013.00083/full
*  Fibroblast growth factor receptor 2 - Wikipedia
Pfeiffer syndrome, another type of acrocephalosyndactyly, includes broad thumbs and large toes, inherited in autosomal dominant ... FGFR2 is a receptor for fibroblast growth factor. The protein encoded by this gene is a member of the fibroblast growth factor ... "Entrez Gene: FGFR2 fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, ... Like the other members of the fibroblast growth factor receptor family, these receptors signal by binding to their ligand and ...
  https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_2
*  FGFR1肽 (806-821) (ab45685)|Abcam中国
Fibroblast growth factor receptor subfamily.. Contains 3 Ig-like C2-type (immunoglobulin-like) domains.. Contains 1 protein ... Inheritance is autosomal dominant.. Defects in FGFR1 are the cause of trigonocephaly non-syndromic (TRICEPH) [MIM:190440]; also ... Receptor for basic fibroblast growth factor. Receptor for FGF23 in the presence of KL (By similarity). A shorter form of the ... Defects in FGFR1 are a cause of Pfeiffer syndrome (PS) [MIM:101600]; also known as acrocephalosyndactyly type V (ACS5). PS is ...
  http://www.abcam.cn/fgfr1-peptide-806-821-ab45685.html
*  Genetic disorders of phosphate regulation | SpringerLink
The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and ... Schipani E, Kruse K, Juppner H (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal ... 2vitamin D3 levels by fibroblast growth factor 23 is mediated by FGF receptors 3 and 4. Am J Physiol Renal Physiol 301:F371- ... Fibroblast growth factor (FGF)23: a new hormone. Eur J Pediatr 170:545-554PubMedCrossRefGoogle Scholar ...
  https://link.springer.com/article/10.1007%2Fs00467-012-2103-2
*  Search
Fibroblast growth factors and the four related high-affinity, tyrosine kinase fibroblast growth factor receptors are involved ... is one of the most common autosomal dominant inherited disorders, and carriers are at greatly increased risk of developing ... Document TypeHovedoppgave (15)Tidsskriftartikkel (2)AuthorAlmåsbak, Hilde (1)Andersen, Tor Ø (1)Bakke, Marit (1)Brekke, Helge ... Phosphoinositides play important roles in downregulation of growth factor receptors, such as the epidermal growth factor ...
  https://www.duo.uio.no/handle/10852/16/discover?filtertype=dateIssued&filter_relational_operator=equals&filter=2004
*  Session 7 Flashcards by Gina Popal | Brainscape
Autosomal dominant point mutation in the fibroblast growth receptor-3 gene 21 ... Autosomal dominant group of heritable disorders of connective tissue. - Caused by mutations in the gene for type I collagen - ... Prolonged bone growth and tall stature can result if epiphyseal growth plates persist later into life that normal because of ... Induce secondary sexual characteristics and pubertal growth spurt. - Bone growth is retarded because of premature closure ( ...
  https://www.brainscape.com/flashcards/session-7-3178213/packs/4806501
*  Journal of Oral Science
Close association with missense mutation of fibroblast growth factor receptor-1 has been reported. Life expectancy depends on ... It is an autosomal dominant disorder characterised by short stature. The affected children have normal intelligence. ... An erythro-leukoplakic-type lesion with mild dysplasia was the common presenting feature. Mixed type lesions with severe ... Fibroblast growth factor 2 (FGF2) is recognized as a potent mitogen for a variety of mesenchymal cells. FGF2 produced by ...
  https://www.jstage.jst.go.jp/browse/josnusd/52/1/_contents
*  Jagged1抗体|Abcam中国|Anti-Jagged1抗体(ab7771)
Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). ... Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis ... Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions ... Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:118450]. ...
  http://www.abcam.cn/jagged1-antibody-ab7771.html
*  Chromosome 10 (human) - Wikipedia
... fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1 ... autosomal dominant) SRGN: serglycin STAMBPL1: STAM binding protein like 1 STOX1: encoding protein Storkhead box 1 SUPV3L1: Suv3 ... Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) FRA10AC1: Fragile site, folic acid type FRAT1: WNT signaling ... nuclear receptor-binding factor 2 NSMCE4A: non-SMC element 4 homolog A OTUD1: encoding protein OTU deubiquitinase 1 PCBD1: 6- ...
  https://en.wikipedia.org/wiki/Chromosome_10_(human)
*  Fan Yang | Stanford Medicine Profiles
Two-thirds of affected individuals have a S252W mutation in fibroblast growth factor receptor 2 (FGFR2). To study the ... Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. ... Using human embryonic kidney 293 cells and mouse embryonic fibroblasts as model cell types, we identified a few PBAE polymers ... Apert syndrome is caused by mutations in fibroblast growth factor receptor 2 (Fgfr2) and is characterized by craniosynostosis ...
  https://med.stanford.edu/profiles/fan-yang
*  acrocephalosyndactyly type I | Hereditary Ocular Diseases
This type of craniosynostosis is caused by mutations in the fibroblast growth factor receptor-2 gene, FGFR2, located at ... It is generally considered an autosomal dominant disorder based on familial cases but most occur sporadically. A paternal age ... This brachysphenocephalic type of acrocephaly is associated with syndactyly in the hands and feet. Pre- and postaxial ...
  http://disorders.eyes.arizona.edu/category/alternate-names/acrocephalosyndactyly-type-i
*  Crouzon syndrome - Genetics Home Reference - NIH
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is ... This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, ... Craniofacial dysostosis, type 1; CFD1. *Crouzon craniofacial dysostosis. *Crouzon's Disease. *Crouzons Disease ...
  https://ghr.nlm.nih.gov/condition/crouzon-syndrome
*  Anti-FGFR1 (phospho Y766) 抗体 (ab59180) | アブカム
Fibroblast growth factor receptor subfamily.. Contains 3 Ig-like C2-type (immunoglobulin-like) domains.. Contains 1 protein ... Inheritance is autosomal dominant.. Defects in FGFR1 are the cause of trigonocephaly non-syndromic (TRICEPH) [MIM:190440]; also ... Receptor for basic fibroblast growth factor. Receptor for FGF23 in the presence of KL (By similarity). A shorter form of the ... ß1 integrin and Src-dependent phosphorylation of fibroblast growth factor receptor-1 at tyrosines 653/654 and 766.. J Biol Chem ...
  http://www.abcam.co.jp/fgfr1-phospho-y766-antibody-ab59180.html