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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1996 | 1 |
1997 | 1 |
2003 | 1 |
2015 | 1 |
2020 | 1 |
2021 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 10026
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Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
Hum Genet. 2021 May;140(5):791-803. doi: 10.1007/s00439-020-02243-2. Epub 2021 Jan 4.
Hum Genet. 2021.
PMID: 33392778
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM.
Nguyen TTM, et al.
Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26.
Am J Hum Genet. 2020.
PMID: 32220290
Free PMC article.
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pigk Mutation underlies macho behavior and affects Rohon-Beard cell excitability.
Carmean V, Yonkers MA, Tellez MB, Willer JR, Willer GB, Gregg RG, Geisler R, Neuhauss SC, Ribera AB.
Carmean V, et al.
J Neurophysiol. 2015 Aug;114(2):1146-57. doi: 10.1152/jn.00355.2015. Epub 2015 Jul 1.
J Neurophysiol. 2015.
PMID: 26133798
Free PMC article.
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Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.
Ohishi K, Nagamune K, Maeda Y, Kinoshita T.
Ohishi K, et al.
J Biol Chem. 2003 Apr 18;278(16):13959-67. doi: 10.1074/jbc.M300586200. Epub 2003 Feb 11.
J Biol Chem. 2003.
PMID: 12582175
Free article.
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The affected gene underlying the class K glycosylphosphatidylinositol (GPI) surface protein defect codes for the GPI transamidase.
Yu J, Nagarajan S, Knez JJ, Udenfriend S, Chen R, Medof ME.
Yu J, et al.
Proc Natl Acad Sci U S A. 1997 Nov 11;94(23):12580-5. doi: 10.1073/pnas.94.23.12580.
Proc Natl Acad Sci U S A. 1997.
PMID: 9356492
Free PMC article.
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Yeast Gpi8p is essential for GPI anchor attachment onto proteins.
Benghezal M, Benachour A, Rusconi S, Aebi M, Conzelmann A.
Benghezal M, et al.
EMBO J. 1996 Dec 2;15(23):6575-83.
EMBO J. 1996.
PMID: 8978684
Free PMC article.
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