Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

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Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1023370599
P356DOI10.1038/EJHG.2008.141
P932PMC publication ID2985964
P698PubMed publication ID18701883
P5875ResearchGate publication ID23169616

P50authorFowzan S AlkurayaQ66753922
P2093author name stringKhushnooda Ramzan
Brian F Meyer
Osama Alsmadi
Fadi Alkayal
Haya Al-Saud
MoeenAldeen Al-Sayed
Salma Wakil
P2860cites workStructure and expression of a novel human FGF, FGF-19, expressed in the fetal brainQ22001492
Fibroblast growth factor 3, a protein with a dual subcellular fate, is interacting with human ribosomal protein S2Q24293327
PedCheck: a program for identification of genotype incompatibilities in linkage analysisQ24539016
Three-dimensional structure of human basic fibroblast growth factor, a structural homolog of interleukin 1 betaQ24563285
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontiaQ24680303
Merlin--rapid analysis of dense genetic maps using sparse gene flow treesQ27860829
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
The int-2 proto-oncogene is responsible for induction of the inner earQ28235407
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular colobomaQ28237882
Three-Dimensional Structures of Acidic and Basic Fibroblast Growth FactorsQ28267322
FGF/FGFR-2(IIIb) signaling is essential for inner ear morphogenesisQ28506828
Identification of cis-element regulating expression of the mouse Fgf10 gene during inner ear developmentQ28506880
Requirements for FGF3 and FGF10 during inner ear formationQ28585124
Differential requirements for FGF3, FGF8 and FGF10 during inner ear developmentQ28585590
FGF8 initiates inner ear induction in chick and mouseQ28593974
Allegro, a new computer program for multipoint linkage analysisQ29618620
Comprehensive human genome amplification using multiple displacement amplificationQ29618737
Refinement of the structure of human basic fibroblast growth factor at 1.6 Å resolution and analysis of presumed heparin binding sites by selenate substitutionQ30194894
Identification of synergistic signals initiating inner ear development.Q33927542
Sensorineural hearing loss in children.Q36064087
From deafness genes to hearing mechanisms: harmony and counterpointQ36366012
Molecular characteristics of fibroblast growth factor-fibroblast growth factor receptor-heparin-like glycosaminoglycan complexQ36448331
Newborn hearing screening--a silent revolutionQ36481413
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide arrayQ36494074
Genetic epidemiology of hearing impairmentQ37519270
Expression and function of FGF10 in mammalian inner ear developmentQ37524712
Fgf3 is required for dorsal patterning and morphogenesis of the inner ear epitheliumQ38440251
The development of semicircular canals in the inner ear: role of FGFs in sensory cristaeQ61852088
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populationsQ73840855
Fibroblast growth factor 3, a protein with dual subcellular localization, is targeted to the nucleus and nucleolus by the concerted action of two nuclear localization signals and a nucleolar retention signalQ73876953
Wnt signals mediate a fate decision between otic placode and epidermisQ82444199
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectdeafnessQ12133
microtiaQ1759560
congenital disorderQ727096
P304page(s)14-21
P577publication date2008-08-13
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleSyndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
P478volume17

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cites work (P2860)
Q30430229FGF23 deficiency leads to mixed hearing loss and middle ear malformation in mice
Q47094771Fgf3 and Fgf16 expression patterns define spatial and temporal domains in the developing chick inner ear.
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Q28591953Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis
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Q50348895Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology
Q33638764Identification of differentially expressed genes in early inner ear development
Q37475258Molecular pathology of the fibroblast growth factor family
Q49053327Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).
Q34467171The Fibroblast Growth Factor signaling pathway
Q37642802The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease.
Q92129431Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
Q33816386Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

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