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Year | Number of Results |
---|---|
2003 | 1 |
2006 | 1 |
2018 | 1 |
2019 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 55617
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TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia.
Mol Genet Genomic Med. 2019 Sep;7(9):e818. doi: 10.1002/mgg3.818. Epub 2019 Jul 27.
Mol Genet Genomic Med. 2019.
PMID: 31350873
Free PMC article.
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW.
Suleiman J, et al.
Hum Mutat. 2019 Nov;40(11):1985-1992. doi: 10.1002/humu.23844. Epub 2019 Jul 22.
Hum Mutat. 2019.
PMID: 31209944
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TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.
Suleiman J, Mundt M, Sampath S, El-Hattab AW.
Suleiman J, et al.
Clin Genet. 2018 Jul;94(1):170-173. doi: 10.1111/cge.13258. Epub 2018 May 10.
Clin Genet. 2018.
PMID: 29633245
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Proteolysis of MLL family proteins is essential for taspase1-orchestrated cell cycle progression.
Takeda S, Chen DY, Westergard TD, Fisher JK, Rubens JA, Sasagawa S, Kan JT, Korsmeyer SJ, Cheng EH, Hsieh JJ.
Takeda S, et al.
Genes Dev. 2006 Sep 1;20(17):2397-409. doi: 10.1101/gad.1449406.
Genes Dev. 2006.
PMID: 16951254
Free PMC article.
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Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression.
Hsieh JJ, Cheng EH, Korsmeyer SJ.
Hsieh JJ, et al.
Cell. 2003 Oct 31;115(3):293-303. doi: 10.1016/s0092-8674(03)00816-x.
Cell. 2003.
PMID: 14636557
Free article.
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