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DCAF13 promotes ovarian cancer progression by activating FRAS1-mediated FAK signaling pathway.
Tang ZY, Wang XM, Xu CW, Sun QQ, Hua YX, Zhou QY, Hu HY, Liu SB, Guo YJ, Ao L, Che X, Zhang XC, Heger M, Zheng X, Liu AJ, Wang Q, Zhan ZJ, Cheng SQ, Pan WW. Tang ZY, et al. Cell Mol Life Sci. 2024 Oct 5;81(1):421. doi: 10.1007/s00018-024-05446-2. Cell Mol Life Sci. 2024. PMID: 39367995 Free PMC article.
Mechanistically, CRL4-DCAF13 targeted Fraser extracellular matrix complex subunit 1 (FRAS1) for polyubiquitination and proteasomal degradation. FRAS1 influenced the proliferation and migration of ovarian cancer cell through induction of the focal adhesion kinase (FA …
Mechanistically, CRL4-DCAF13 targeted Fraser extracellular matrix complex subunit 1 (FRAS1) for polyubiquitination and proteasomal de …
Transgene-mediated skeletal phenotypic variation in zebrafish.
Kimmel CB, Wind AL, Oliva W, Ahlquist SD, Walker C, Dowd J, Blanco-Sánchez B, Titus TA, Batzel P, Talbot JC, Postlethwait JH, Nichols JT. Kimmel CB, et al. J Fish Biol. 2021 Apr;98(4):956-970. doi: 10.1111/jfb.14300. Epub 2020 Mar 30. J Fish Biol. 2021. PMID: 32112658 Free PMC article.
A very interesting feature is that the enhancements are highly specific for fras1 mutant phenotypes, occurring in the apparent absence of more widespread changes. Except for the features due to the fras1 mutation, the transgene-bearing larvae appear generally health …
A very interesting feature is that the enhancements are highly specific for fras1 mutant phenotypes, occurring in the apparent absenc …
Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
Westenius E, Conner P, Pettersson M, Sahlin E, Papadogiannakis N, Lindstrand A, Iwarsson E. Westenius E, et al. Ultrasound Obstet Gynecol. 2024 May;63(5):658-663. doi: 10.1002/uog.27592. Epub 2024 Apr 14. Ultrasound Obstet Gynecol. 2024. PMID: 38268232 Free article.
Causative sequence variants were identified in 12 genes: FGFR3 (n = 2), ACTA1 (n = 1), CDH2 (n = 1), COL1A2 (n = 1), DHCR7 (n = 1), EYA1 (n = 1), FBXO11 (n = 1), FRAS1 (n = 1), L1CAM (n = 1), OFD1 (n = 1), PDHA1 (n = 1) and SOX9 (n = 1). The phenotypes of the cases were di …
Causative sequence variants were identified in 12 genes: FGFR3 (n = 2), ACTA1 (n = 1), CDH2 (n = 1), COL1A2 (n = 1), DHCR7 (n = 1), EYA1 (n …
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
Recessive mutations in FRAS1-related extracellular matrix 1 (FREM1) are associated with two rare genetic disorders, Manitoba-oculo-tricho-anal (MOTA) and bifid nose with or without anorectal and renal anomalies (BNAR). Fraser syndrome is a more severe disorder that shows p …
Recessive mutations in FRAS1-related extracellular matrix 1 (FREM1) are associated with two rare genetic disorders, Manitoba-oculo-tr …
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 …
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
RESULTS: Novel loss of function variants were detected in FRAS1 and FREM2. In FRAS1, a homozygous splice site variant c.9780+2T>C was found in an affected fetus, segregating form each parent. ...CONCLUSION: We describe consanguineous families with clinical featur …
RESULTS: Novel loss of function variants were detected in FRAS1 and FREM2. In FRAS1, a homozygous splice site variant c.9780+2 …
A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer.
Wang V, Geybels MS, Jordahl KM, Gerke T, Hamid A, Penney KL, Markt SC, Freedman M, Pomerantz M, Lee GM, Rana H, Börnigen D, Rebbeck TR, Huttenhower C, Eeles RA, Stanford JL, Consortium P, Berndt SI, Claessens F, Sørensen KD, Park JY, Vega A, Usmani N, Mucci L, Sweeney CJ. Wang V, et al. Prostate. 2021 Jul;81(10):683-693. doi: 10.1002/pros.24148. Epub 2021 May 6. Prostate. 2021. PMID: 33956343 Free PMC article.
Fixed effects meta-analysis of all three cohorts found an association: OR = 1.37 (95% confidence interval [CI]: 1.15-1.62, p = .0003). This SNP is in the promoter region of FRAS1, a gene involved in epidermal-basement membrane adhesion and is present at a higher frequency …
Fixed effects meta-analysis of all three cohorts found an association: OR = 1.37 (95% confidence interval [CI]: 1.15-1.62, p = .0003). This …
Blood and brain transcriptome analysis reveals APOE genotype-mediated and immune-related pathways involved in Alzheimer disease.
Panitch R, Hu J, Xia W, Bennett DA, Stein TD, Farrer LA, Jun GR. Panitch R, et al. Alzheimers Res Ther. 2022 Feb 9;14(1):30. doi: 10.1186/s13195-022-00975-z. Alzheimers Res Ther. 2022. PMID: 35139885 Free PMC article.

RESULTS: We observed differentially expressed genes with P < 0.05 in both brain and blood for established AD genes INPP5D (upregulated) and HLA-DQA1 (downregulated). PIGHP1 and FRAS1 were differentially expressed at the transcriptome-wide level (P < 3.3 10(-6)) withi

…

RESULTS: We observed differentially expressed genes with P < 0.05 in both brain and blood for established AD genes INPP5D (upregulated) a

…
Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome.
Li L, Chu C, Li S, Lu D, Zheng P, Sheng J, Luo LJ, Wu X, Zhang YD, Yin C, Duan AH. Li L, et al. Fertil Steril. 2021 Nov;116(5):1360-1369. doi: 10.1016/j.fertnstert.2021.06.033. Epub 2021 Jul 24. Fertil Steril. 2021. PMID: 34311961 Free article.
These 11 variants were related to 9 genes: CHD1L, TRIM32, TGFBR3, WNT4, RET, FRAS1, FAT1, FOXF1, and PCSK5. All variants were heterozygous and confirmed by Sanger sequencing. ...
These 11 variants were related to 9 genes: CHD1L, TRIM32, TGFBR3, WNT4, RET, FRAS1, FAT1, FOXF1, and PCSK5. All variants were heteroz …
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
Gowans LJJ, Al Dhaheri N, Li M, Busch T, Obiri-Yeboah S, Oti AA, Sabbah DK, Arthur FKN, Awotoye WO, Alade AA, Twumasi P, Agbenorku P, Plange-Rhule G, Naicker T, Donkor P, Murray JC, Sobreira NLM, Butali A. Gowans LJJ, et al. Mol Genet Genomic Med. 2021 Apr;9(4):e1655. doi: 10.1002/mgg3.1655. Epub 2021 Mar 14. Mol Genet Genomic Med. 2021. PMID: 33719213 Free PMC article.
A second proband had variants in EPG5 (associated with Vici Syndrome), BARX1 and MKI67, while another proband had potentially etiologic variants in FRAS1 (associated with Fraser Syndrome 1), TCOF1 (associated with Treacher Collins Syndrome 1) and MKI67. The last proband ha …
A second proband had variants in EPG5 (associated with Vici Syndrome), BARX1 and MKI67, while another proband had potentially etiologic vari …
24 results