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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. Vidak M, et al. Int J Mol Sci. 2018 May 4;19(5):1369. doi: 10.3390/ijms19051369. Int J Mol Sci. 2018. PMID: 29734672 Free PMC article.
In addition, FREM2 gene and protein expression levels are higher in GB stem-like cell lines than in conventional glioblastoma cell lines. FREM2 is thus proposed as a novel GB biomarker and a putative biomarker of glioblastoma stem cells. ...
In addition, FREM2 gene and protein expression levels are higher in GB stem-like cell lines than in conventional glioblastoma cell li …
Interplay of ECM organization, ROCK signaling, and cell polarity drives mesothelium formation and lung growth.
Liu X, Lin B, Li P, Cai Z, Cao W, Yang W, Zeng J, Li L, Zhou Y, Huang D, Stainier DYR, Ran P, Yin W. Liu X, et al. Nat Commun. 2025 Oct 30;16(1):9610. doi: 10.1038/s41467-025-64597-3. Nat Commun. 2025. PMID: 41168230 Free PMC article.
The mechanisms regulating organ size remain poorly understood. Here, we show that FREM2 is a critical modulator of lung size. Frem2 mutant mice exhibit defects in the formation of elastic fibers around mesothelial cells, which compromises phosphorylated myosin light …
The mechanisms regulating organ size remain poorly understood. Here, we show that FREM2 is a critical modulator of lung size. Frem …
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 …
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 …
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. Al-Hamed MH, et al. J Nephrol. 2021 Jun;34(3):893-900. doi: 10.1007/s40620-020-00795-0. Epub 2020 Jul 8. J Nephrol. 2021. PMID: 32643034
In another family, both parents carried a FREM2 heterozygous frameshift variant (c.3969delC; p.Asn1323Lysfs*5). CONCLUSION: We describe consanguineous families with clinical features of antenatal oligohydramnios and bilateral renal agenesis, in whom we have identified nove …
In another family, both parents carried a FREM2 heterozygous frameshift variant (c.3969delC; p.Asn1323Lysfs*5). CONCLUSION: We descri …
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. Yu Q, et al. Hum Mol Genet. 2018 Jul 1;27(13):2357-2366. doi: 10.1093/hmg/ddy144. Hum Mol Genet. 2018. PMID: 29688405 Free PMC article.
Functional analysis revealed that Arg2167Trp mutant decreased its interaction with FRAS1 related extracellular matrix 1 (FREM1) and impaired the function of the FRAS1-FRAS1 related extracellular matrix 1 (FREM2)-FREM1 ternary complex required for normal embryogenesis. Furt …
Functional analysis revealed that Arg2167Trp mutant decreased its interaction with FRAS1 related extracellular matrix 1 (FREM1) and impaired …
Utility of genetic work-up for 46, XY patients with severe hypospadias.
Srivastava P, Tenney J, Lodish M, Slavotinek A, Baskin L. Srivastava P, et al. J Pediatr Urol. 2023 Jun;19(3):261-272. doi: 10.1016/j.jpurol.2022.11.023. Epub 2022 Nov 25. J Pediatr Urol. 2023. PMID: 36496321
Two patients had a variant of unknown significance, one in FREM2 and another in CEP41. Four had negative gene panels. The patient with the WT1 pathogenic variant was subsequently found to have developed a Wilms tumor and the patients with NR5A1 pathogenic variants are now …
Two patients had a variant of unknown significance, one in FREM2 and another in CEP41. Four had negative gene panels. The patient wit …
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. Mambueni HM, et al. Joint Bone Spine. 2022 Nov;89(6):105419. doi: 10.1016/j.jbspin.2022.105419. Epub 2022 May 28. Joint Bone Spine. 2022. PMID: 35640836 Free article.
Two of them were located in the FREM2 gene on a haplotype co-segregating with the disease, including one common variant (R1840W, minor allele frequency=0.11) and one rare variant (R727H, minor allele frequency=0.0001). ...Immunostaining experiments revealed that FREM2 …
Two of them were located in the FREM2 gene on a haplotype co-segregating with the disease, including one common variant (R1840W, mino …
Fraser syndrome: review of the literature illustrated by a historical adult case.
Bouaoud J, Olivetto M, Testelin S, Dakpe S, Bettoni J, Devauchelle B. Bouaoud J, et al. Int J Oral Maxillofac Surg. 2020 Oct;49(10):1245-1253. doi: 10.1016/j.ijom.2020.01.007. Epub 2020 Jan 22. Int J Oral Maxillofac Surg. 2020. PMID: 31982235 Review.
The syndrome is related to mutations in three different genes (FRAS1, FREM2, and GRIP1) resulting in failure of the apoptosis program and disruption of the epithelial-mesenchymal interactions during embryonic development. ...
The syndrome is related to mutations in three different genes (FRAS1, FREM2, and GRIP1) resulting in failure of the apoptosis program …
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
Dawson AJ, Hovanes K, Liu J, Marles S, Greenberg C, Mhanni A, Chudley A, Frosk P, Sahoo T, Schanze D, Zenker M. Dawson AJ, et al. Clin Dysmorphol. 2021 Apr 1;30(2):83-88. doi: 10.1097/MCD.0000000000000351. Clin Dysmorphol. 2021. PMID: 33038106
Fraser syndrome is a more severe disorder that shows phenotypic overlap with both MOTA and anorectal and renal anomalies and results from mutations in FRAS1, FREM2 and GRIP1. Heterozygous missense mutations in FREM1 were reported in association with isolated trigonocephaly …
Fraser syndrome is a more severe disorder that shows phenotypic overlap with both MOTA and anorectal and renal anomalies and results from mu …
23 results