*  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
*  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
*  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
*  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
*  http://ufdc.ufl.edu/IR00001148/00001
Identification of a 21 kDa connective t issue growth factor fragment from human corneal fibroblasts Robinson PM 1 Dave M 1 ... By parametric analysis (assuming autosomal dominant inheritance, allele frequency of 0.001, phenocopy rate of 0.01 and pe ... Optimization on various combinations of plant growth regulators (PGRs) and media types was conducted to obtain robust, high ... the plant flagellin receptor) and other plant innate immune system receptors. Ways in which the prevailin g paradigm is ...
  http://ufdc.ufl.edu/IR00001148/00001
*  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
*  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
*  Wallerian degeneration - Wikipedia
Leukemia inhibitory factor, Insulin-like growth factor, and Fibroblast growth factor. These factors together create a favorable ... The Wlds mutation is an autosomal-dominant mutation occurring in the mouse chromosome 4. The gene mutation is an 85-kb tandem ... The rate of degradation is dependent on the type of injury and is also slower in the CNS than in the PNS. Another factor that ... Possible sources of proliferation signal are attributed to the ErbB2 receptors and the ErbB3 receptors. This proliferation ...
  https://en.wikipedia.org/wiki/Wallerian_degeneration
*  Functionality of Endothelial Cells and Pericytes From Human Pluripotent Stem Cells Demonstrated in Cultured Vascular Plexus and...
platelet-derived growth factor receptor. SM. smooth muscle. TGFβ. transforming growth factor β. VEC. vascular endothelial ... and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are caused by ... basic fibroblast growth factor (20 ng/mL), and 1% bovine platelet poor plasma extract and cryopreserved using standard ... selective TGF β type I receptor kinase inhibitor, at 5 μmol/L. Examination of cell surface expression of the hematoendothelial- ...
  http://atvb.ahajournals.org/content/34/1/177
*  Recombinant human FGFR3 protein (ab60857) | Abcam
Fibroblast growth factor receptor subfamily.. Contains 3 Ig-like C2-type (immunoglobulin-like) domains.. Contains 1 protein ... It is proposed to have an autosomal dominant mode of inheritance.. Defects in FGFR3 are a cause of thanatophoric dysplasia type ... Fibroblast growth factor receptor 3. *Fibroblast growth factor receptor 3 (achondroplasia thanatophoric dwarfism) ... LADDS is an autosomal dominant syndrome characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup- ...
  http://www.abcam.com/recombinant-human-fgfr3-protein-ab60857.html
*  Handbook of Genetic Counseling/Achondroplasia-1 - Wikibooks, open books for an open world
Molecular genetics-molecular origin arises from a mutation in one copy of the fibroblast growth factor receptor 3 gene. *FGFR3 ... Mode of inheritance- autosomal dominant- 75-80% arise from sporadic mutations. Correlated with advanced paternal age; virtually ... Approximately 8% of individuals with achondroplasia undergo this type of surgery.. *Respiratory- *Individuals with ... turned on regardless of whether or not fibroblast growth factor is bound to it). This results in the increased inhibition of ...
  https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Achondroplasia-1
*  Cancers | Free Full-Text | Genetic Interactions of STAT3 and Anticancer Drug Development | HTML
... epidermal growth factor receptor, and reduction-oxidation pathways; and molecular mechanisms that modulate therapeutic ... De novo dominant-negative mutations in the DNA-binding domain of STAT3 have been identified in autosomal dominant or sporadic ... and growth factors, such as epidermal growth factor (EGF), fibroblast growth factor, insulin-like growth factor, hepatocyte ... Hoa, M.; Davis, S.L.; Ames, S.J.; Spanjaard, R.A. Amplification of wild-type K-ras promotes growth of head and neck squamous ...
  http://mdpi.com/2072-6694/6/1/494/htm