Naoe Harafuji
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Explore the profile of Naoe Harafuji including associated specialties, affiliations and a list of published articles.
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13
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715
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Recent Articles
1.
Harafuji N, Yang C, Wu M, Thiruvengadam G, Gordish-Dressman H, Thompson R, et al.
Front Cell Dev Biol
. 2023 Dec;
11:1270980.
PMID: 38125876
Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic...
2.
Yang C, Harafuji N, Caldovic L, Yu W, Boddu R, Bhattacharya S, et al.
J Mol Med (Berl)
. 2023 Aug;
101(9):1141-1151.
PMID: 37584738
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality. Mutations in the polycystic kidney and hepatic disease 1...
3.
Zhang Y, Yang C, Wang W, Harafuji N, Stasiak P, Bell P, et al.
FASEB J
. 2023 Jun;
37(7):e23008.
PMID: 37318790
Autosomal recessive polycystic kidney disease (ARPKD) is caused primarily by mutations in PKHD1, encoding fibrocystin (FPC), but Pkhd1 mutant mice failed to reproduce the human phenotype. In contrast, the renal...
4.
Wu M, Harafuji N, OConnor A, Caldovic L, Guay-Woodford L
Front Mol Biosci
. 2023 Jan;
9:946344.
PMID: 36710876
Transcription factor Ap2b (TFAP2B), an AP-2 family transcription factor, binds to the palindromic consensus DNA sequence, 5'-GCCNGGC-3'. Mice lacking functional gene die in the perinatal or neonatal period with cystic...
5.
Yang C, Harafuji N, OConnor A, Kesterson R, Watts J, Majmundar A, et al.
Sci Rep
. 2021 Sep;
11(1):18274.
PMID: 34521872
Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1 (cpk) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD). Cystin, the protein product of Cys1,...
6.
Chen Y, Gregory C, Ye F, Harafuji N, Lott D, Lai S, et al.
Biomed Genet Genom
. 2017 Aug;
2(1).
PMID: 28845464
Results: Using 6% change as the threshold to define responsiveness, a greater degree of changes in muscle size was noted in high responders (-14.9 ± 3.6%) compared to low responders...
7.
Varano A, Harafuji N, Dearnaley W, Guay-Woodford L, Kelly D
Methods Mol Biol
. 2017 Aug;
1647:185-196.
PMID: 28809003
Electron microscopy (EM) is a rapidly growing area of structural biology that permits us to decode biological assemblies at the nanoscale. To examine biological materials for single particle EM analysis,...
8.
Sharma V, Harafuji N, Belayew A, Chen Y
PLoS One
. 2013 May;
8(5):e64691.
PMID: 23717650
Facioscapulohumeral muscular dystrophy (FSHD) is linked to the deletion of the D4Z4 arrays at chromosome 4q35. Recent studies suggested that aberrant expression of double homeobox 4 (DUX4) from the last...
9.
Harafuji N, Schneiderat P, Walter M, Chen Y
Orphanet J Rare Dis
. 2013 Apr;
8:55.
PMID: 23561550
Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder, which is linked to the contraction of the D4Z4 array at chromosome 4q35. Recent studies suggest that this shortening...
10.
Rogers C, Harafuji N, Archer T, Cunningham D, Casey E
Mech Dev
. 2008 Nov;
126(1-2):42-55.
PMID: 18992330
The SRY-related, HMG box SoxB1 transcription factors are highly homologous, evolutionarily conserved proteins that are expressed in neuroepithelial cells throughout neural development. SoxB1 genes are down-regulated as cells exit the...