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Year Number of Results
1995 1
1998 1
1999 2
2000 3
2001 4
2002 4
2003 4
2004 3
2005 1
2006 4
2007 11
2008 10
2009 1
2010 8
2011 10
2012 8
2013 6
2014 9
2015 10
2016 10
2017 7
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2019 16
2020 11
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2023 13
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159 results

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Page 1
Arteriovenous malformation Map2k1 mutation affects vasculogenesis.
Sudduth CL, Smits PJ, Vivero MP, Cheng YS, Ad M, Konczyk DJ, Bischoff J, Warman ML, Greene AK. Sudduth CL, et al. Sci Rep. 2023 Jul 8;13(1):11074. doi: 10.1038/s41598-023-35301-6. Sci Rep. 2023. PMID: 37422456 Free PMC article.
We previously reported the generation of a mouse line allowing inducible expression of constitutively active MAP2K1 (p.K57N) from the Rosa locus (R26(GT-Map2k1-GFP/+)) and showed, using Tg-Cdh5CreER, that EC expression of mutant MAP2K1 is sufficient for the d …
We previously reported the generation of a mouse line allowing inducible expression of constitutively active MAP2K1 (p.K57N) from the …
Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.
Pierpont EI, Semrud-Clikeman M, Pierpont ME. Pierpont EI, et al. Am J Med Genet A. 2017 Feb;173(2):452-459. doi: 10.1002/ajmg.a.38044. Epub 2016 Nov 14. Am J Med Genet A. 2017. PMID: 27862862 Review.
Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. ...Detailed medical and neuropsychological findings are presented alongside a co …
Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated wi …
Plasma-derived extracellular vesicles released after endurance exercise exert cardioprotective activity through the activation of antioxidant pathways.
Lisi V, Senesi G, Bertola N, Pecoraro M, Bolis S, Gualerzi A, Picciolini S, Raimondi A, Fantini C, Moretti E, Parisi A, Sgrò P, Di Luigi L, Geiger R, Ravera S, Vassalli G, Caporossi D, Balbi C. Lisi V, et al. Redox Biol. 2023 Jul;63:102737. doi: 10.1016/j.redox.2023.102737. Epub 2023 May 18. Redox Biol. 2023. PMID: 37236143 Free PMC article.
Cardiovascular diseases (CVD) can cause various conditions, including an increase in reactive oxygen species (ROS) levels that can decrease nitric oxide (NO) availability and promote vasoconstriction, leading to arterial hypertension. ...Gene ontology (GO) analysis …
Cardiovascular diseases (CVD) can cause various conditions, including an increase in reactive oxygen species (ROS) levels that …
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C. Onesimo R, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):478-493. doi: 10.1002/ajmg.c.32019. Epub 2022 Dec 14. Am J Med Genet C Semin Med Genet. 2022. PMID: 36515923 Review.
In cardio-facio-cutaneous syndrome feeding issues are usually present (90-100% of cases), especially in individuals carrying variants in BRAF, MAP2K1, and MAP2K2 genes, and artificial enteral intervention, even after scholar age, may be required. ...
In cardio-facio-cutaneous syndrome feeding issues are usually present (90-100% of cases), especially in individuals carrying variants in BRA …
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G. Scorrano G, et al. Genes (Basel). 2023 Nov 22;14(12):2111. doi: 10.3390/genes14122111. Genes (Basel). 2023. PMID: 38136934 Free PMC article. Review.
It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. ...
It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/ …
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X. Feng B, et al. Orphanet J Rare Dis. 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. Orphanet J Rare Dis. 2023. PMID: 37697378 Free PMC article.
All 20 Chinese patients with CFC carried de novo heterozygous BRAF, MAP2K1, and MAP2K2 variants. Two novel variants were detected and consistently predicted to be deleterious using bioinformatic tools. ...Absent eyebrows and severe short stature were more common in patient …
All 20 Chinese patients with CFC carried de novo heterozygous BRAF, MAP2K1, and MAP2K2 variants. Two novel variants were detected and …
Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice.
Smits PJ, Sudduth CL, Konczyk DJ, Cheng YS, Vivero MP, Kozakewich HPW, Warman ML, Greene AK. Smits PJ, et al. Angiogenesis. 2023 Feb;26(1):97-105. doi: 10.1007/s10456-022-09853-6. Epub 2022 Aug 16. Angiogenesis. 2023. PMID: 35972708 Free PMC article.
Tg-Cdh5Cre(+/-);R26(GT-Map2k1-GFP/+) animals that express mutant MAP2K1 in ECs in utero developed diffuse vascular abnormalities and died by embryonic (E) day 16.5. Tg-Cdh5CreER(+/-);R26(GT-Map2k1-GFP/+) animals in which mutant MAP2K1 expression was in …
Tg-Cdh5Cre(+/-);R26(GT-Map2k1-GFP/+) animals that express mutant MAP2K1 in ECs in utero developed diffuse vascular abnormaliti …
Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.
Goss JA, Konczyk DJ, Smits PJ, Kozakewich HPW, Alomari AI, Al-Ibraheemi A, Taghinia AH, Dickie BH, Adams DM, Fishman SJ, Mulliken JB, Warman ML, Greene AK. Goss JA, et al. Angiogenesis. 2019 Nov;22(4):547-552. doi: 10.1007/s10456-019-09678-w. Epub 2019 Sep 5. Angiogenesis. 2019. PMID: 31486960 Free PMC article.
RESULTS: We detected somatic mutations in 6 of 8 IHCT specimens. Four specimens had a mutation in MAP2K1 (p.Q58_E62del, p.P105_I107delinsL, p.Q56P) and 2 specimens had mutations in KRAS (p.K5E and p.G12D, p.G12D and p.Q22R). ...CONCLUSIONS: IHCT lesions are phenotypically …
RESULTS: We detected somatic mutations in 6 of 8 IHCT specimens. Four specimens had a mutation in MAP2K1 (p.Q58_E62del, p.P105_I107de …
Integrated bioinformatics and machine learning algorithms reveal the critical cellular senescence-associated genes and immune infiltration in heart failure due to ischemic cardiomyopathy.
Guo L, Xu CE. Guo L, et al. Front Immunol. 2023 May 10;14:1150304. doi: 10.3389/fimmu.2023.1150304. eCollection 2023. Front Immunol. 2023. PMID: 37234159 Free PMC article.
Heart failure (HF) is the final stage of many cardiovascular illnesses and the leading cause of death worldwide. At the same time, ischemic cardiomyopathy has replaced valvular heart disease and hypertension as the primary causes of heart failure. ...Three sets of key gene …
Heart failure (HF) is the final stage of many cardiovascular illnesses and the leading cause of death worldwide. At the same time, is …
Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.
Zakharova V, Raykina E, Mersiyanova I, Deordieva E, Pershin D, Vedmedskia V, Rodina Y, Kuzmenko N, Maschan M, Shcherbina A. Zakharova V, et al. Hum Mutat. 2022 Dec;43(12):1852-1855. doi: 10.1002/humu.24463. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054331
It is thought that germline cancer-causing mutations would be embryonic lethal, as a more severe phenotype was shown in Drosophila and zebrafish embryos with cancer MAP2K1 mutations than in those with RASopathy mutations. Here we report the case of a patient with RASopathy …
It is thought that germline cancer-causing mutations would be embryonic lethal, as a more severe phenotype was shown in Drosophila and zebra …
159 results