原著論文1
Ohba C, Okamoto N, Murakami Y et al.
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
Neurogenetics
, 15
(2)
, 85-92
(2014)
原著論文2
Martin, H. C., G. Kim, A. T. Pagnamenta, Y. Murakami,et al.
Whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Hum. Mol. Genet.
, 23
, 3200-3211
(2014)
原著論文3
Kato, M., H. Saitsu, Y. Murakami et al.
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features
Neurology
, 82
, 1587-1596
(2014)
原著論文4
Murakami, Y., H. Tawamie, Y. Maeda,et al
Null mutation in PGAP1 impairs GPI-anchor maturation and causes severe non-syndromic recessive intellectual disability.
PLoS Genet.
, 10
(5)
(2014)
原著論文5
Nakashima, M., H. Kashii, Y. Murakami, et sl
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
Neurogenet
, 15
, 193-200
(2014)
原著論文6
Ueda, Y., J. Nishimura, Y. Murakami,et al.
Paroxysmal nocturnal hemoglobinuria with copy number-neutral 6pLOH in GPI (+) but not in GPI (-) granulocytes.
Eur. J. Haematol.
, 92
, 450-453
(2014)
原著論文7
Stokes, M., Y. Murakami, Y. Maeda et al.
New insights to the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis.
Biochem. J.,
, 463
(2)
, 249-256
(2014)
原著論文8
Fujiwara I, Murakami Y, Niihori T et al.
Mutations in PIGL in a patient with Mabry syndrome.
Am J Med Genet A.
(2015)
10.1002/ajmg.a.36987
原著論文9
Makrythanasis P, Kato M, Zaki MS et al.
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Am J Hum Genet.
(2016)
doi: 10.1016/j.ajhg.2016.02.007.
原著論文10
Knaus A, Awaya T, Helbig I, et al.
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Hum Mutat.
, 37
(8)
, 737-744
(2016)
原著論文11
Hogrebe M, Murakami Y, Wild M,et al.
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.
Am J Med Genet A
, 170
(12)
, 3319-3322
(2016)
原著論文12
Edvardson S, Murakami Y, Nguyen TT, et al
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
J Med Genet.
, 54
(3)
, 196-201
(2016)
原著論文13
Lee GH, Fujita M, Takaoka K, et al
A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO.
J Cell Biol.
, 215
(5)
, 705-718
(2016)
原著論文14
Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T,et al
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.
Neurogenetics.
, 18
(1)
, 39-47
(2016)
原著論文15
Pagnamenta AT, Murakami Y, Taylor JM, et al
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Eur J Hum Genet.
, 25
(6)
, 669-679
(2017)
原著論文16
Ihara S, Nakayama S, Murakami Y, et al
PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis.
J Cell Sci.
, 130
(3)
, 602-613
(2017)
原著論文17
Johnstone DL, Nguyen TT, Murakami Y, et al
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Hum Mol Genet.
, 26
(9)
, 1706-1715
(2017)
原著論文18
Tanigawa J, Mimatsu H, Mizuno S,et al
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Hum Mutat.
(2017)
doi: 10.1002/humu.23219
