| Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis. | Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis.
Mambueni HM, Hue C, Jobart-Malfait A, Said-Nahal R, El Hafci H, Petite H, Nich C, Breban M, Costantino F, Garchon HJ. | 11/26/2022 |
| Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families. | Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.
Al-Hamed MH, Sayer JA, Alsahan N, Tulbah M, Kurdi W, Ambusaidi Q, Ali W, Imtiaz F. | 07/24/2021 |
| Our findings extend the spectrum of FREM2 mutations, and provide insights into opportunities for the prenatal diagnosis of isolated cryptophthalmos. Furthermore, our work highlights the importance of the FREM2 protein during the development of eyelids and the anterior segment of the eyeballs, establishes a suitable animal model for studying epithelial reopening during eyelid development and serves as a valuable reference | Loss-of-function mutations in FREM2 disrupt eye morphogenesis.
Zhang X, Wang D, Dongye M, Zhu Y, Chen C, Wang R, Long E, Liu Z, Wu X, Lin D, Chen J, Lin Z, Wang J, Li W, Li Y, Li D, Lin H. | 02/15/2020 |
| Based on these data, we conclude that deficiency of FREM2, and possibly FRAS1, are associated with an increased risk of developing Congenital diaphragmatic hernia (CDH) and that loss of the FREM1/FREM2/FRAS1 complex, or its function, leads to anterior sac CDH development through its effects on mesothelial fold progression | The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA., Free PMC Article | 03/2/2019 |
| Our results showed that p.Arg2167Trp had a weaker effect in interrupting interactions between FREM2 and FREM1 than FS-associated missense mutation p.Glu1972Lys. Overall, our data demonstrate that the homozygous mutation p.Arg2167Trp in FREM2 causes isolated Cryptophthalmos(CO), which will facilitate our better understanding of the molecular mechanisms underlying the disease | A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Yu Q, Lin B, Xie S, Gao S, Li W, Liu Y, Wang H, Huang D, Xie Z., Free PMC Article | 02/23/2019 |
| FREM2 is thus proposed as a novel GB biomarker and a putative biomarker of glioblastoma stem cells. Both FREM2 and SPRY1 are expressed on the surface of the GB cells, while SPRY1 alone was found overexpressed in the cytosol of non-malignant astrocytes. | Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates.
Vidak M, Jovcevska I, Samec N, Zottel A, Liovic M, Rozman D, Dzeroski S, Juvan P, Komel R., Free PMC Article | 09/22/2018 |
| In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme. | Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F., Free PMC Article | 11/22/2014 |
| Amplification of the FREM2 gene is associated with mesenchymal differentiation in gliosarcoma. | Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma.
Nagaishi M, Kim YH, Mittelbronn M, Giangaspero F, Paulus W, Brokinkel B, Vital A, Tanaka Y, Nakazato Y, Legras-Lachuer C, Lachuer J, Ohgaki H. | 08/11/2012 |
| Heterozygous missense mutations in FREM2 cause non-syndromic congenital abnormalities of the kidney and urinary tract in humans. | Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
Saisawat P, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F., Free PMC Article | 05/5/2012 |
| 1 new mutation in FREM2 was identified in families with Fraser syndrome. | Molecular study of 33 families with Fraser syndrome new data and mutation review.
van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ. | 01/21/2010 |
| report on 2 fetuses affected by Fraser syndrome (FS); a homozygous IVS14 + 1G -- A mutation in FREM2 was indentified; present report provides additional evidence that FS may be caused by complete or near-complete lack or loss of function of FREM2 protein | Fraser syndrome due to homozygosity for a splice site mutation of FREM2.
Shafeghati Y, Kniepert A, Vakili G, Zenker M. | 01/21/2010 |