| Two novel mutations within FREM1 gene in patients with bifid nose. | Two novel mutations within FREM1 gene in patients with bifid nose.
Chen X, Yu B, Wang Z, Li Q, Dai C, Wei J., Free PMC Article | 12/20/2023 |
| High level of plasma TILRR protein is associated with faster HIV seroconversion. | High level of plasma TILRR protein is associated with faster HIV seroconversion.
Kashem MA, Lischynski J, Stojak B, Li L, Yuan XY, Liang B, Kimani J, Plummer FA, Luo M., Free PMC Article | 05/7/2022 |
| Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. | 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. | 12/25/2021 |
| Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition. | Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.
Brischoux-Boucher E, Dahlen E, Gronier C, Nobili F, Marcoux E, Alkuraya FS, Van Maldergem L. | 08/21/2021 |
| Elevated expression of FREM1 in breast cancer indicates favorable prognosis and high-level immune infiltration status. | Elevated expression of FREM1 in breast cancer indicates favorable prognosis and high-level immune infiltration status.
Li HN, Li XR, Lv ZT, Cai MM, Wang G, Yang ZF., Free PMC Article | 08/7/2021 |
| Toll-like Interleukin 1 Receptor Regulator Is an Important Modulator of Inflammation Responsive Genes. | Toll-like Interleukin 1 Receptor Regulator Is an Important Modulator of Inflammation Responsive Genes.
Kashem MA, Li H, Toledo NP, Omange RW, Liang B, Liu LR, Li L, Yang X, Yuan XY, Kindrachuk J, Plummer FA, Luo M., Free PMC Article | 09/12/2020 |
| 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 |
| we identified genome-wide significant association involving measures of central upper lip height at 9p22 within FREM1 | Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.
Lee MK, Shaffer JR, Leslie EJ, Orlova E, Carlson JC, Feingold E, Marazita ML, Weinberg SM., Free PMC Article | 09/9/2017 |
| FREM1 expression is significantly downregulated in human masticatory mucosa during wound healing | Human gingiva transcriptome during wound healing.
Wang Y, Tatakis DN. | 03/22/2017 |
| this report describes a patient with a phenotype compatible with Manitoba-oculo-tricho-anal syndrome in whom two novel FREM1 mutations were identified in the compound heterozygous state thus broadening the mutational spectrum of the disease. | Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.
Chacon-Camacho OF, Zenker M, Schanze D, Ledesma-Gil J, Zenteno JC. | 02/18/2017 |
| 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 |
| Disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes. | Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A., Free PMC Article | 08/10/2013 |
| We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH in both humans and mice. | Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA., Free PMC Article | 07/27/2013 |
| The significant association of rs1552896 with an HIV-resistant phenotype, together with the expression profile of FREM1 in tissues relevant to HIV infection, suggests that FREM1 is a potentially novel candidate gene for resistance to HIV infection. | A genetic polymorphism of FREM1 is associated with resistance against HIV infection in the Pumwani sex worker cohort.
Luo M, Sainsbury J, Tuff J, Lacap PA, Yuan XY, Hirbod T, Kimani J, Wachihi C, Ramdahin S, Bielawny T, Embree J, Broliden K, Ball TB, Plummer FA., Free PMC Article | 01/12/2013 |
| The location of the IBD region 16 kb from FREM1 suggests the phenotype in Manitoba oculotrichoanal syndrome patients is attributable to a variant outside of FREM1, potentially in a regulatory element. | Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
Mateo RK, Johnson R, Lehmann OJ., Free PMC Article | 11/17/2012 |
| FREM1 encodes a basement membrane protein of FRAS1-related extracellular matrix protein 1 which is required for epidermal adhesion during embryonic development | Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.
Chen CP, Lin HM, Leung C, Lin SP, Su YN, Su JW, Chen YT, Wang W. | 09/1/2012 |
| a role for TILRR in selective amplification of NF-kappaB responses through IL-1RI and suggest that the specificity is determined by changes in receptor conformation and adapter protein recruitment. | Distinct control of MyD88 adapter-dependent and Akt kinase-regulated responses by the interleukin (IL)-1RI co-receptor, TILRR.
Zhang X, Pino GM, Shephard F, Kiss-Toth E, Qwarnstrom EE., Free PMC Article | 06/9/2012 |
| These data suggest that copy number variations and mutations involving FREM1 can be identified in a significant percentage of people with MC with or without midface hypoplasia. | Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T., Free PMC Article | 01/28/2012 |
| Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. FREM1 deficiency ties the molecular cause of MOTA syndrome closely to the pathogenesis of Fraser syndrome. | Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M., Free PMC Article | 10/1/2011 |
| TILRR, an isoform encoded by an alternatively spliced FREM1 mRNA, is an IL-1RI co-receptor that associates with the signaling receptor complex to enhance recruitment of MyD88 and control Ras-dependent amplification of NF-kappaB and inflammatory responses. | TILRR, a novel IL-1RI co-receptor, potentiates MyD88 recruitment to control Ras-dependent amplification of NF-kappaB.
Zhang X, Shephard F, Kim HB, Palmer IR, McHarg S, Fowler GJ, O'Neill LA, Kiss-Toth E, Qwarnstrom EE., Free PMC Article | 04/8/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Identification of 15 loci influencing height in a Korean population.
Kim JJ, Lee HI, Park T, Kim K, Lee JE, Cho NH, Shin C, Cho YS, Lee JY, Han BG, Yoo HW, Lee JK. | 12/2/2009 |
| The phenotypic variability reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of bifid nose and anorectal and renal anomalies syndrome in humans may represent a previously unrecognized variant of Fraser syndrome. | FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS., Free PMC Article | 01/21/2010 |