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Genetics of 46,XY gonadal dysgenesis.
Elzaiat M, McElreavey K, Bashamboo A. Elzaiat M, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101633. doi: 10.1016/j.beem.2022.101633. Epub 2022 Feb 25. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 35249806 Review.
A minority of all cases of GD are associated with pathogenic variants in key players of testis-determination, SRY, SOX9, MAP3K1 and NR5A1. However, most of the cases remain unexplained. Recently, unbiased exome sequencing approaches have revealed new genes and loci that ma …
A minority of all cases of GD are associated with pathogenic variants in key players of testis-determination, SRY, SOX9, MAP3K1 and N …
Genomic Landscape of Mixed-Phenotype Acute Leukemia.
Hennawi M, Pakasticali N, Tashkandi H, Hussaini M. Hennawi M, et al. Int J Mol Sci. 2022 Sep 24;23(19):11259. doi: 10.3390/ijms231911259. Int J Mol Sci. 2022. PMID: 36232559 Free PMC article.
The most frequently mutated genes were TP53 (7), RUNX1 (6), WT1 (4), MLL2 (3), FLT3 (3), CBL (2), ASXL1 (2), TET2 (2), MAP3K6 (2), MLL (2), and MAP3K1 (2). Targetable or potentially targetable biomarkers were found in 56% of cases. ...
The most frequently mutated genes were TP53 (7), RUNX1 (6), WT1 (4), MLL2 (3), FLT3 (3), CBL (2), ASXL1 (2), TET2 (2), MAP3K6 (2), MLL (2), …
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Wilcox N, Dumont M, González-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, Luccarini C, Soucy P, Dubois S, Nuñez-Torres R, Pita G, Gardner EJ, Dennis J, Alonso MR, Álvarez N, Baynes C, Collin-Deschesnes AC, Desjardins S, Becher H, Behrens S, Bolla MK, Castelao JE, Chang-Claude J, Cornelissen S, Dörk T, Engel C, Gago-Dominguez M, Guénel P, Hadjisavvas A, Hahnen E, Hartman M, Herráez B; SGBCC Investigators; Jung A, Keeman R, Kiechle M, Li J, Loizidou MA, Lush M, Michailidou K, Panayiotidis MI, Sim X, Teo SH, Tyrer JP, van der Kolk LE, Wahlström C, Wang Q, Perry JRB, Benitez J, Schmidt MK, Schmutzler RK, Pharoah PDP, Droit A, Dunning AM, Kvist A, Devilee P, Easton DF, Simard J. Wilcox N, et al. Nat Genet. 2023 Sep;55(9):1435-1439. doi: 10.1038/s41588-023-01466-z. Epub 2023 Aug 17. Nat Genet. 2023. PMID: 37592023 Free PMC article.

Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2.5 10(-6)): the five known susceptibility genes ATM, BRCA1, BRCA2, CHEK2 and PALB2, together with MAP3K1. Associations were al

…
Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P …
Genetic Control of MAP3K1 in Eye Development and Sex Differentiation.
Wang J, Kimura E, Mongan M, Xia Y. Wang J, et al. Cells. 2021 Dec 23;11(1):34. doi: 10.3390/cells11010034. Cells. 2021. PMID: 35011600 Free PMC article. Review.
The MAP3K1 is responsible for transmitting signals to activate specific MAP2K-MAPK cascades. ...Additionally, Map3k1 mutation increased eye defects with an exposure to environmental agents such as dioxin. ...
The MAP3K1 is responsible for transmitting signals to activate specific MAP2K-MAPK cascades. ...Additionally, Map3k1 mutation …
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.
Ostrer H. Ostrer H. Sex Dev. 2022;16(2-3):92-97. doi: 10.1159/000522428. Epub 2022 Mar 15. Sex Dev. 2022. PMID: 35290982 Free article. Review.
Pathogenic variants in the MAP3K1 gene are an important cause of 46,XY non-syndromic partial and complete gonadal dysgenesis, accounting for at least 4% of cases. ...Pathogenic variants occur almost exclusively within known domains of the MAP3K1 protein, facilitatin …
Pathogenic variants in the MAP3K1 gene are an important cause of 46,XY non-syndromic partial and complete gonadal dysgenesis, account …
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.
Mueller SH, Lai AG, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Abu-Ful Z, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baert T, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Brenner H, Brucker SY, Buys SS, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Chung WK; NBCS Collaborators; Colonna SV; CTS Consortium; Cornelissen S, Couch FJ, Czene K, Daly MB, Devilee P, Dörk T, Dossus L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Engel C, Evans DG, Fasching PA, Fletcher O, Flyger H, Gago-Dominguez M, Gao YT, García-Closas M, García-Sáenz JA, Genkinger J, Gentry-Maharaj A, Grassmann F, Guénel P, Gündert M, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Harkness EF, Harrington PA, Hartikainen JM, Hartman M, Hein A, Ho WK, Hooning MJ, Hoppe R, Hopper JL, Houlston RS, Howell A, Hunter DJ, Huo D; ABCTB Investigators; Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kang D, Khusnutdinova EK, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Kwong A, Lacey JV, Lambrechts D, Le March… See abstract for full author list ➔ Mueller SH, et al. Genome Med. 2023 Jan 26;15(1):7. doi: 10.1186/s13073-022-01152-5. Genome Med. 2023. PMID: 36703164 Free PMC article.
Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C. CONCLUSIONS: Using extended gene-based aggregation tests including coding and regulatory variation …
Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, …
MAP3K1 rs889312 polymorphism and cancer prognosis: A systematic review and meta-analysis.
Aziz MA, Islam MS. Aziz MA, et al. Cancer Rep (Hoboken). 2023 Jan;6(1):e1773. doi: 10.1002/cnr2.1773. Epub 2022 Dec 22. Cancer Rep (Hoboken). 2023. PMID: 36560873 Free PMC article. Review.
Given the potential impact of MAP3K1 rs889312 SNP on the prognosis of various cancers, this meta-analysis was performed to obtain solid and credible evidence. ...CONCLUSIONS: The present study concludes that MAP3K1 gene rs889312 polymorphism plays a prognostic role …
Given the potential impact of MAP3K1 rs889312 SNP on the prognosis of various cancers, this meta-analysis was performed to obtain sol …
Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.
Ręka G, Stefaniak M, Lejman M. Ręka G, et al. Cells. 2023 Jan 30;12(3):449. doi: 10.3390/cells12030449. Cells. 2023. PMID: 36766791 Free PMC article. Review.
In histiocytosis, several mutation variants are described: BRAF, MAP2K1, MAP3K1, ARAF, ERBB3, NRAS, KRAS, PICK1, PIK3R2, and PIK3CA. Genes like HPLH1, PRF1, UNC13D, STX11, STXBP2, SH2D1A, BIRC4, ITK, CD27, MAGT1, LYST, AP3B1, and RAB27A are possible reasons for hemophagocy …
In histiocytosis, several mutation variants are described: BRAF, MAP2K1, MAP3K1, ARAF, ERBB3, NRAS, KRAS, PICK1, PIK3R2, and PIK3CA. …
Identification of a novel monocyte/macrophage-related gene signature for predicting survival and immune response in acute myeloid leukemia.
Zhan Y, Ma S, Zhang T, Zhang L, Zhao P, Yang X, Liu M, Cheng W, Li Y, Wang J. Zhan Y, et al. Sci Rep. 2024 Jun 18;14(1):14012. doi: 10.1038/s41598-024-64567-7. Sci Rep. 2024. PMID: 38890346 Free PMC article.
Our study identified that the MMrisk is composed of eight MMGs, including HOPX, CSTB, MAP3K1, LGALS1, CFD, MXD1, CASP1 and BCL2A1. The low MMrisk group survived longer than high MMrisk group (P < 0.001). ...
Our study identified that the MMrisk is composed of eight MMGs, including HOPX, CSTB, MAP3K1, LGALS1, CFD, MXD1, CASP1 and BCL2A1. Th …
Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population.
Morales-Pison S, Tapia JC, Morales-González S, Maldonado E, Acuña M, Calaf GM, Jara L. Morales-Pison S, et al. Int J Mol Sci. 2023 Nov 8;24(22):16076. doi: 10.3390/ijms242216076. Int J Mol Sci. 2023. PMID: 38003265 Free PMC article.
This study evaluated associations between BC risk and 13 SNPs in driver genes MAP3K1, SF3B1, SMAD4, ARID2, ATR, KMT2C, MAP3K13, NCOR1, and TBX3, in BRCA1/2-negative Chilean families. ...Our study suggests that specific germline variants in driver genes MAP3K1, SF3B1 …
This study evaluated associations between BC risk and 13 SNPs in driver genes MAP3K1, SF3B1, SMAD4, ARID2, ATR, KMT2C, MAP3K13, NCOR1 …
48 results