FGFR1

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FGFR1

A gene on chromosome 8p12 that encodes fibroblast growth factor receptor-1, which has an extracellular region composed of 3 immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Binding of a ligand unleashes a cascade of downstream signals that impact on mitogenesis and differentiation.

Molecular pathology
FGFR1 mutations are associated with inherited syndromes (e.g., Antley-Bixler syndrome, autosomal dominant Kallmann syndrome 2, Jackson-Weiss syndrome, osteoglophonic dysplasia and Pfeiffer syndrome), as well as myeloproliferative disorders and stem cell leukaemia lymphoma syndrome.
References in periodicals archive ?
FLG Services operates 24 service centres across the UK and offers a full range of lifting and safety equipment for hire or purchase alongside specialist testing, service, inspection, repair and design capabilities.
The data "suggest that FLG gene may serve as a potential biomarker to screen the atopic population, identifying patients at high risk of AD, to adopt preventive measures that can restore the barrier function of the skin and reduce patients' susceptibility to recurrent skin infection," they wrote.
[sup][5] derived a global IV clinical severity score (0–15) by scoring each of five IV clinical signs (diffuse xerosis, hyperlinearity of palms, scales on legs, scalp desquamation, and keratosis pilaris) from 0 to 3 points and genotyping two common FLG null mutations (R501X and 2282del4) for 110 Caucasian patients.
This group found that mice deficient in FLG developed a skin inflammation analogous to AD (and driven by innate immunity), then later developed compromised lung function (a process resulting from adaptive immunity).
In our study, the results at the end of follow-up period were comparable with 17.6% recurrence seen in SRG versus 20% recurrence in the FLG. The cosmetic results were similar, and parent satisfaction was good in both the groups.
The scanning electron microscopy (SEM) images of FLG and MWCNTs are shown in Figures 1(a) and 1(b).
In models of associations between hormone levels and FLG genotype, the following confounders were included as continuous variables: body mass index (BMI), smoking (number of cigarettes per day), alcohol consumption (units consumed in the week before participation), time of blood sampling, and age.
In order to exercise the option, the total consideration payable by Dart into FLG is US$8.7m, in two tranches - one tranche of US$4.35m which has been paid on exercise of the option, and the second tranche of US$4.35m which will be paid by end March 2011.
In Manchester, an independent and significant association of the development of eczema by 12 months in infants with FLG genotype was confirmed.
The mutations on FLG, which is located on chromosome 1q21, were originally linked to ichthyosis vulgaris in a group of 15 families, with many affected members of these families also having atopic dermatitis.
The filaggrin gene (flg) is situated in the epidermal differentiation complex 1q21 and encodes proteins involved in this final stage of keratinocyte differentiation of the epidermis.