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FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies.
Turgut GT, Sarac Sivrikoz T, Komurcu-Bayrak E, Kalayci T. Turgut GT, et al. Eur J Med Genet. 2023 Mar;66(3):104712. doi: 10.1016/j.ejmg.2023.104712. Epub 2023 Jan 28. Eur J Med Genet. 2023. PMID: 36720431
Here we report on the atypical prenatal and postmortem findings of a fetus with FS caused by a novel homozygous frameshift variant in FREM2. Our study highlights the variable manifestations of the FS and expands the clinical spectrum to include popliteal pterygium and stru …
Here we report on the atypical prenatal and postmortem findings of a fetus with FS caused by a novel homozygous frameshift variant in FRE …
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. Zhang X, et al. Exp Eye Res. 2019 Apr;181:302-312. doi: 10.1016/j.exer.2019.02.013. Epub 2019 Feb 22. Exp Eye Res. 2019. PMID: 30802441
We detected FREM2 expression in the outer plexiform layer of the retina for the first time in the cryptophthalmic eyes, and the levels were comparable to the wild-type mice. Moreover, a set of different expressed genes that may contribute secondarily to the phenotypes were …
We detected FREM2 expression in the outer plexiform layer of the retina for the first time in the cryptophthalmic eyes, and the level …
Frem2 Knockout Mice Exhibit Fraser Syndrome Phenotypes and Neonatal Lethality Due to Bilateral Renal Agenesis.
Simikyan RG, Zhang X, Strelkova O, Li N, Zhu M, Eckhard A, Baranov PY, Wu X, Richey L, Indzhykulian AA. Simikyan RG, et al. bioRxiv [Preprint]. 2024 Oct 28:2024.10.28.620501. doi: 10.1101/2024.10.28.620501. bioRxiv. 2024. PMID: 39554083 Free PMC article. Preprint.
These proteins are critical for maintaining epithelial integrity during embryogenesis, with deficiencies leading to tissue detachment and blistering phenotypes in mouse models. The FREM2 protein is a single-pass membrane protein of 3169 amino acids. While FREM2-defi …
These proteins are critical for maintaining epithelial integrity during embryogenesis, with deficiencies leading to tissue detachment and bl …
High FREM2 Gene and Protein Expression Are Associated with Favorable Prognosis of IDH-WT Glioblastomas.
Jovčevska I, Zottel A, Šamec N, Mlakar J, Sorokin M, Nikitin D, Buzdin AA, Komel R. Jovčevska I, et al. Cancers (Basel). 2019 Jul 27;11(8):1060. doi: 10.3390/cancers11081060. Cancers (Basel). 2019. PMID: 31357584 Free PMC article.
In addition, the FREM2 and SPRY1 proteins show specific localization on the surface of glioblastoma cells. ...In addition, we observed that low FREM2 expression was associated with progression of IDH-mutant low-grade glioma patients. ...
In addition, the FREM2 and SPRY1 proteins show specific localization on the surface of glioblastoma cells. ...In addition, we observe …
Identification and Comprehensive Analysis of FREM2 Mutation as a Potential Prognostic Biomarker in Colorectal Cancer.
Du H, Wang H, Kong F, Wu M, Chen W, Lyu J, Zhou S, Yang R. Du H, et al. Front Mol Biosci. 2022 Feb 18;9:839617. doi: 10.3389/fmolb.2022.839617. eCollection 2022. Front Mol Biosci. 2022. PMID: 35252356 Free PMC article.
COAD patients were divided into FREM2-mutated type (n = 36) and FREM2-wild type (n = 278), and a Kaplan-Meier survival curve was generated to perform prognostic analysis. ...In conclusion, CRC patients had a high level of FREM2 mutations associated with a wor …
COAD patients were divided into FREM2-mutated type (n = 36) and FREM2-wild type (n = 278), and a Kaplan-Meier survival curve w …
Algorithmically Deduced FREM2 Molecular Pathway Is a Potent Grade and Survival Biomarker of Human Gliomas.
Zolotovskaia M, Tkachev V, Sorokin M, Garazha A, Kim E, Kantelhardt SR, Bikar SE, Zottel A, Šamec N, Kuzmin D, Sprang B, Moisseev A, Giese A, Efimov V, Jovčevska I, Buzdin A. Zolotovskaia M, et al. Cancers (Basel). 2021 Aug 16;13(16):4117. doi: 10.3390/cancers13164117. Cancers (Basel). 2021. PMID: 34439271 Free PMC article.
Gliomas are the most common malignant brain tumors with high mortality rates. Recently we showed that the FREM2 gene has a role in glioblastoma progression. Here we reconstructed the FREM2 molecular pathway using the human interactome model. ...To this end, we used …
Gliomas are the most common malignant brain tumors with high mortality rates. Recently we showed that the FREM2 gene has a role in gl …
Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.
Kantaputra PN, Tripuwabhrut K, Anthonappa RP, Chintakanon K, Ngamphiw C, Adisornkanj P, Porntrakulseree N, Olsen B, Intachai W, Hennekam RC, Vieira AR, Tongsima S. Kantaputra PN, et al. Diagnostics (Basel). 2023 Mar 23;13(7):1214. doi: 10.3390/diagnostics13071214. Diagnostics (Basel). 2023. PMID: 37046432 Free PMC article.
RESULTS: We identified a novel (c.8498A>G; p.Asn2833Ser) and six recurrent (c.1603C>T; p.Arg535Cys, c.5852G>A; p.Arg1951His, c.6949A>T; p.Thr2317Ser; c.1549G>A; p.Val517Met, c.1921A>G; p.Thr641Ala, and c.850G>C; p.Val284Leu) heterozygous missense variants in …
RESULTS: We identified a novel (c.8498A>G; p.Asn2833Ser) and six recurrent (c.1603C>T; p.Arg535Cys, c.5852G>A; p.Arg1951His, c.6949 …
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation.
Kantaputra PN, Wangtiraumnuay N, Ngamphiw C, Olsen B, Intachai W, Tucker AS, Tongsima S. Kantaputra PN, et al. J Hum Genet. 2022 Feb;67(2):115-118. doi: 10.1038/s10038-021-00972-4. Epub 2021 Aug 19. J Hum Genet. 2022. PMID: 34408272
FREM2 is a member of the FREM2-FRAS1-FREM1 protein complex which contributes to epithelial-mesenchymal coupling. ...The Arg2167Trp mutant protein has been shown to cause partial loss of function, decrease its interaction with FREM1 and result in impaired function of …
FREM2 is a member of the FREM2-FRAS1-FREM1 protein complex which contributes to epithelial-mesenchymal coupling. ...The Arg216 …
The Metabolic Reprogramming of Frem2 Mutant Mice Embryos in Cryptophthalmos Development.
Zhang X, Wang R, Wang T, Zhang X, Dongye M, Wang D, Wang J, Li W, Wu X, Lin D, Lin H. Zhang X, et al. Front Cell Dev Biol. 2021 Jan 8;8:625492. doi: 10.3389/fcell.2020.625492. eCollection 2020. Front Cell Dev Biol. 2021. PMID: 33490088 Free PMC article.
In the previous study, we generated mice carrying Frem2 (R725X/R2156W) compound heterozygous mutations using CRISPR/Cas9 and showed that these mice recapitulated the human cryptophthalmos phenotype. ...Our findings suggest that the metabolomic signature established before …
In the previous study, we generated mice carrying Frem2 (R725X/R2156W) compound heterozygous mutations using CRISPR/Cas9 and showed t …
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. Jordan VK, et al. Hum Mol Genet. 2018 Jun 15;27(12):2064-2075. doi: 10.1093/hmg/ddy110. Hum Mol Genet. 2018. PMID: 29618029 Free PMC article.
Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorder that can be caused by recessive mutations affecting FREM2 and FRAS1. In the extracellular matrix, FREM2 and FRAS1 form a sel …
Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorde …
110 results