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Human molecular genetics

Human molecular genetics
紙雑誌
Oxford University Press<Z54-J69>
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Runx2 regulates cranial suture closure by inducing hedgehog, Fgf, Wnt and Pthlh signaling pathway gene expressions in suture mesenchymal cells 28 6

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Runx2 regulates cranial suture closure by inducing hedgehog, Fgf, Wnt and Pthlh signaling pathway gene expressions in suture mesenchymal cells 28 6
デジタル博士論文障害者向け資料あり
秦, 昕Oxford University Press2019-03-20Human Molecular Genetics
国立国会図書館

Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice 24 4

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Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice 24 4
デジタル博士論文障害者向け資料あり
黒澤, 大2015Human Molecular Genetics
国立国会図書館

Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension

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デジタル記事
Suginobe, Hidehiro, Ishida, Hidekazu, Ishii, Yoichiro, Ueda, Kazutoshi, Yoshihara, Chika, Ueyama, Atsuko, Wang, Renjie, Tsuru, Hirofumi, Hashimoto, Kazuhisa, Hirose, Masaki, Ishii, Ryo, Narita, Jun, Kitabatake, Yasuji, Ozono, KeiichiOxford University Press (OUP)2023-10-04Human Molecular Genetics163p.1163-
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  • 掲載誌（ISSN）09646906 14602083

Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension

Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension
デジタル記事
2023-10-04Human Molecular Genetics163p.1163-
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  • 掲載誌（ISSN）09646906

Congenital heart defects caused by <i>FOXJ1</i>

Congenital heart defects caused by <i>FOXJ1</i>
デジタル記事
2023-05-09Human Molecular Genetics32 14p.2335-2346
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Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan

Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan
デジタル記事
2023-03-11Human Molecular Genetics32 12p.2046-2054
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Integrator complex subunit 15 controls mRNA splicing and is critical for eye development

Integrator complex subunit 15 controls mRNA splicing and is critical for eye development
デジタル記事
2023-02-28Human Molecular Genetics32 12p.2032-2045
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Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy
デジタル記事
2023-01-16Human Molecular Genetics32 10p.1683-1697
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Therapeutic reduction of GGGGCC repeat RNA levels by hnRNPA3 suppresses neurodegeneration in <i>Drosophila</i> models of <i>C9orf72</i>-linked ALS/FTD

Therapeutic reduction of GGGGCC repeat RNA levels by hnRNPA3 suppresses neurodegeneration in <i>Drosophila</i> models of <i>C9orf72</i>-linked ALS/FTD
デジタル記事
2023-01-15Human Molecular Genetics32 10p.1673-1682
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Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in <i>Drosophila</i> using the automated axon quantification system, MeDUsA

Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in <i>Drosophila</i> using the automated axon quantification system, MeDUsA
デジタル記事
2023-01-05Human Molecular Genetics32 9p.1524-1538
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A mutation in <i>DOK7</i> in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells

A mutation in <i>DOK7</i> in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells
デジタル記事
2022-12-29Human Molecular Genetics32 9p.1511-1523
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Novel compound heterozygous mutations in <i>UHRF1</i> are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation

Novel compound heterozygous mutations in <i>UHRF1</i> are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation
デジタル記事
2022-12-02Human Molecular Genetics32 9p.1439-1456
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Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant

Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant
デジタル記事
2022-11-25Human Molecular Genetics32 8p.1301-1312
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Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis

Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis
デジタル記事
2022-09-29Human Molecular Genetics32 5p.825-834
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Dominantly acting <i>KIF5B</i> variants with pleiotropic cellular consequences cause variable clinical phenotypes

Dominantly acting <i>KIF5B</i> variants with pleiotropic cellular consequences cause variable clinical phenotypes
デジタル記事
2022-08-26Human Molecular Genetics32 3p.473-488
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Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis

Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis
デジタル記事
2022-08-18Human Molecular Genetics32 2p.290-303
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Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease

Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease
デジタル記事
2022-08-12Human Molecular Genetics31 R1p.R123-R136
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Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
デジタル記事
2022-08-11Human Molecular Genetics32 3p.367-385
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SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate <i>Sox9</i> expression to varying degrees

SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate <i>Sox9</i> expression to varying degrees
デジタル記事
2022-08-03Human Molecular Genetics32 1p.55-64
全国の図書館
  • 掲載誌（ISSN）09646906