Genomes and Genes
Gene Symbol: FGF12
Description: fibroblast growth factor 12
Alias: EIEE47, FGF12B, FHF1, fibroblast growth factor 12, fibroblast growth factor 12B, fibroblast growth factor FGF-12b, fibroblast growth factor homologous factor 1, myocyte-activating factor
- Boghossian N, Sicko R, Kay D, Rigler S, Caggana M, Tsai M, et al. Rare copy number variants implicated in posterior urethral valves. Am J Med Genet A. 2016;170:622-33 pubmed publisher..CNVs, each detected in a single PUV case included: a deletion of PIK3R3 and TSPAN1, duplication/triplication in FGF12, duplication of FAT1--a gene essential for normal growth and development, a large deletion (>2 Mb) on ..
- McCreary J, Truica L, Friesen B, Yao Y, Olson D, Kovalchuk I, et al. Altered brain morphology and functional connectivity reflect a vulnerable affective state after cumulative multigenerational stress in rats. Neuroscience. 2016;330:79-89 pubmed publisher..growth regulator (Negr1) and synaptosomal-associated protein 25 (Snap25) gene expression and reduced fibroblast growth factor 12 (Fgf12) in prefrontal cortex...
- Garimella R, Tadikonda P, Tawfik O, Gunewardena S, Rowe P, Van Veldhuizen P. Vitamin D Impacts the Expression of Runx2 Target Genes and Modulates Inflammation, Oxidative Stress and Membrane Vesicle Biogenesis Gene Networks in 143B Osteosarcoma Cells. Int J Mol Sci. 2017;18: pubmed publisher..revealed significant reduction in Runx2 target genes such as fibroblast growth factor -1, -12 (FGF1 and FGF12), bone morphogenetic factor-1 (BMP1), SWI/SNF related, matrix associated actin dependent regulator of ..
- Giannakou A, Sicko R, Zhang W, Romitti P, Browne M, Caggana M, et al. Copy number variants in Ebstein anomaly. PLoS ONE. 2017;12:e0188168 pubmed publisher..or were close to genes involved in early myocardial development, including NODAL, PDLIM5, SIX1, ASF1A and FGF12. We also replicated a previous association of EA with CNVs at 1p34.1 and AKAP12...
- Villeneuve N, Abidi A, Cacciagli P, Mignon Ravix C, Chabrol B, Villard L, et al. Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration. Eur J Paediatr Neurol. 2017;21:783-786 pubmed publisher..Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p...
- Musa H, Kline C, Sturm A, Murphy N, Adelman S, Wang C, et al. SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. Proc Natl Acad Sci U S A. 2015;112:12528-33 pubmed publisher..Together, these findings identify a previously unexplored mechanism for human Nav channelopathy based on altered Nav1.5 association with FHF proteins. ..
- Zhang F, Dai L, Lin W, Wang W, Liu X, Zhang J, et al. Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease. Funct Integr Genomics. 2016;16:13-7 pubmed publisher..PLINK software was used for association analysis. We identified a novel 106T>C at the 3'UTR of the FGF12 gene, which has not been reported by now...
- Song S, Kim K, Jo E, Kim Y, Kwon J, Bae S, et al. Fibroblast Growth Factor 12 Is a Novel Regulator of Vascular Smooth Muscle Cell Plasticity and Fate. Arterioscler Thromb Vasc Biol. 2016;36:1928-36 pubmed publisher..Here, we identified fibroblast growth factor 12 (FGF12) as a novel key regulator of the VSMC phenotype switch...
- Aka J, Calvo E, Lin S. Estradiol-independent modulation of breast cancer transcript profile by 17beta-hydroxysteroid dehydrogenase type 1. Mol Cell Endocrinol. 2017;439:175-186 pubmed publisher..whereas genes involved in apoptosis and cell death, including the pro-apoptotic gene XAF1, IFIH1 and FGF12, are on the contrary up-regulated by 17?-HSD1 knockdown, and 21% of the modulated genes belong to this latter ..
- Hagen E, Sicko R, Kay D, Rigler S, Dimopoulos A, Ahmad S, et al. Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. Hum Genet. 2016;135:1355-1364 pubmed..We also identified a CNV involving FGF12, a gene previously noted in a classic heterotaxy case...
- Li Q, Zhao Y, Wu G, Chen S, Zhou Y, Li S, et al. De Novo FGF12 (Fibroblast Growth Factor 12) Functional Variation Is Potentially Associated With Idiopathic Ventricular Tachycardia. J Am Heart Assoc. 2017;6: pubmed publisher..Variations in FGF12 (fibroblast growth factor 12), which is expressed in the human ventricle and modulates the cardiac Na+ channel NaVScheider J, Afonso Grunz F, Jessl L, Hoffmeier K, Winter P, Oehlmann J. Morphological and transcriptomic effects of endocrine modulators on the gonadal differentiation of chicken embryos: The case of tributyltin (TBT). Toxicol Lett. 2018;284:143-151 pubmed publisher..Among these are several transcription and growth factors (e.g. FGF12, CTCF, NFIB), whose altered expression might serve as a set of markers for early identification of endocrine ..Schoorlemmer J, Goldfarb M. Fibroblast growth factor homologous factors are intracellular signaling proteins. Curr Biol. 2001;11:793-7 pubmed..Hence, FHFs are intracellular components of a tissue-specific protein kinase signaling module. ..Liu Y, Chiu I. Assignment of FGF12, the human FGF homologous factor 1 gene, to chromosome 3q29-->3qter by fluorescence in situ hybridization. Cytogenet Cell Genet. 1997;78:48-9 pubmedSmallwood P, Munoz Sanjuan I, Tong P, Macke J, Hendry S, Gilbert D, et al. Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. Proc Natl Acad Sci U S A. 1996;93:9850-7 pubmed..Each FHF is expressed in the developing and adult nervous systems, suggesting a role for this branch of the FGF family in nervous system development and function. ..Gieger C, Geistlinger L, Altmaier E, Hrabe de Angelis M, Kronenberg F, Meitinger T, et al. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. PLoS Genet. 2008;4:e1000282 pubmed publisher..These genetically determined metabotypes may subscribe the risk for a certain medical phenotype, the response to a given drug treatment, or the reaction to a nutritional intervention or environmental challenge. ..Li H, Du Y, Zhang D, Wang L, Yang C, Liu B, et al. Identification of novel DNA methylation markers in colorectal cancer using MIRA-based microarrays. Oncol Rep. 2012;28:99-104 pubmed publisher..occurred at multiple CpG sites of these three genes in cancer tissues, especially for PHOX2B and FGF12. Combined bisulfite restriction analysis showed that these three genes were methylated in cancer ..Nakayama F, Yasuda T, Umeda S, Asada M, Imamura T, Meineke V, et al. Fibroblast growth factor-12 (FGF12) translocation into intestinal epithelial cells is dependent on a novel cell-penetrating peptide domain: involvement of internalization in the in vivo role of exogenous FGF12. J Biol Chem. 2011;286:25823-34 pubmed publisherThe extracellular effect of fibroblast growth factor-12 (FGF12) remains unknown because FGF12 cannot activate any fibroblast growth factor receptors (FGFRs), and FGF12 is not currently thought to be released from cells...Schoorlemmer J, Goldfarb M. Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase. J Biol Chem. 2002;277:49111-9 pubmed..These results support the existence of a signaling module in which IB2 scaffolds a MLK3/MKK/p38delta kinase cascade. FHFs aid in recruitment of p38 to IB2 and may serve as kinase substrates. ..Satoh J, Nanri Y, Yamamura T. Rapid identification of 14-3-3-binding proteins by protein microarray analysis. J Neurosci Methods. 2006;152:278-88 pubmed..These results suggest that protein microarray is a powerful tool for rapid and comprehensive profiling of 14-3-3-binding proteins. ..Kok L, Tsui S, Waye M, Liew C, Lee C, Fung K. Cloning and characterization of a cDNA encoding a novel fibroblast growth factor preferentially expressed in human heart. Biochem Biophys Res Commun. 1999;255:717-21 pubmed..Northern hybridization done on a human multiple tissues blot showed that the gene is preferentially expressed in human heart, very weakly detectable in human brain and not detectable in 18 other different human tissues. ..Dubey V, Singh B, Sarkar N, Pande M, Jagannadham M. Biophysical characterization of fibroblast growth factor homologous factor-1b (FHF-1b): sodium dodecyl sulfate promotes two state folding. Protein Pept Lett. 2008;15:215-8 pubmed..FHF-1 unfolds through stable intermediate state while unfolding of FGF-1 is two-state. Interestingly, low concentration of sodium dodecyl sulfate (SDS) drives the folding pathway of FHF-1b to two-state. ..Bhushan A, Singh A, Kapur S, Borthakar B, Sharma J, Rai A, et al. Identification and Validation of Fibroblast Growth Factor 12 Gene as a Novel Potential Biomarker in Esophageal Cancer Using Cancer Genomic Datasets. OMICS. 2017;21:616-631 pubmed publisher..b>Fibroblast Growth Factor 12 (FGF12) gene was overexpressed in ESCC...Ruan X, Chen T, Wang X, Li Y. Suxiao Jiuxin Pill protects cardiomyocytes against mitochondrial injury and alters gene expression during ischemic injury. Exp Ther Med. 2017;14:3523-3532 pubmed publisher..subunit 8, cytochrome C oxidase subunit 6A2 (Cox6a2), fibroblast growth factor receptor (Fgfr) 4, Fgf8, Fgf12, Gnas complex locus, glycogen synthase kinase 3? (Gsk3b), mitogen-activated protein kinase (Mapk)11-14, Mapk ..Walsh K, Choi M, Oberg K, Kulke M, Yao J, Wu C, et al. A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. Endocr Relat Cancer. 2011;18:171-80 pubmed publisher..Owing to the rarity of this disease, we believe these results will provide a valuable resource for future work on this serious condition by allowing others to make efficient use of their samples in targeted studies. ..de Aquino S, Messetti A, Bagordakis E, Martelli Junior H, Swerts M, Graner E, et al. Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate. BMC Med Genet. 2013;14:53 pubmed publisher..with populations from Europe and Asia have identified putative susceptibility markers for NSCL/P in fibroblast growth factor 12 (FGF12), vinculin (VCL), connexin 43 (CX43) and in a region close to the ventral anterior homeobox 1 (..Byrne E, Gehrman P, Medland S, Nyholt D, Heath A, Madden P, et al. A genome-wide association study of sleep habits and insomnia. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:439-51 pubmed publisher..We did not replicate the results from previous genome-wide analyses of self-reported sleep phenotypes after correction for multiple testing. ..Hennessey J, Marcou C, Wang C, Wei E, Wang C, Tester D, et al. FGF12 is a candidate Brugada syndrome locus. Heart Rhythm. 2013;10:1886-94 pubmed publisher..The goal of this study was to test whether FGF12 is a candidate BrS locus...Liu C, Dib Hajj S, Renganathan M, Cummins T, Waxman S. Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B. J Biol Chem. 2003;278:1029-36 pubmed..5 channel with FHF1B. This is the first report showing that interaction with a growth factor can modulate properties of a voltage-gated sodium channel. ..Siekierska A, Isrie M, Liu Y, Scheldeman C, Vanthillo N, Lagae L, et al. Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. Neurology. 2016;86:2162-70 pubmed publisher..A de novo heterozygous missense mutation was identified in the FHF1 gene (FHF1AR114H, FHF1BR52H) in the 2 affected siblings...Olsen S, Garbi M, Zampieri N, Eliseenkova A, Ornitz D, Goldfarb M, et al. Fibroblast growth factor (FGF) homologous factors share structural but not functional homology with FGFs. J Biol Chem. 2003;278:34226-36 pubmed..FGF homologous factors (FHF1-FHF4; also known as FGF11-FGF14) are related to FGFs by substantial sequence homology, yet their only documented ..