「Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency」の関連論文
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PML-RARαはMED1との結合を介して全トランス型レチノイン酸依存性の転写活性化を誘導する
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Collective fusion activity determines neurotropism of an en bloc transmitted enveloped virus
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Inhibition of autophagy in theca cells induces CYP17A1 and PAI-1 expression via ROS/p38 and JNK signalling during the development of polycystic ovary syndrome
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A proteome signature of umbilical cord serum associated with congenital diaphragmatic hernia
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Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction (本文)
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A clinical and genetic study of SPG31 in Japan
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A RUNX-targeted gene switch-off approach modulates the BIRC5/PIF1-p21 pathway and reduces glioblastoma growth in mice
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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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All reported non-canonical splice site variants in GLA cause aberrant splicing
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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Elucidation of cause and natural feature of cheating rhizobia, and host defense mechanism against them
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Identification and analysis of mechanisms that bypass the essentiality of Polo, a mitotic regulator
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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Polo-like kinase 4 and stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Evolutionary histories of breast cancer and related clones
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DNA methyltransferase 3B plays a protective role against hepatocarcinogenesis caused by chronic inflammation via maintaining mitochondrial homeostasis
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Physiological and Pathological Mitochondrial Clearance Is Related to Pectoralis Major Muscle Pathogenesis in Broilers With Wooden Breast Syndrome
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Functional studies of the egg cortical alveolus proteases on fertilization of medaka
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Automated screening procedure for the phenotypes of congenital fibrinogen disorders using novel parameters, |min1|c and Ac/|min1|c, obtained from clot waveform analysis using the Clauss method
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An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development
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Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy
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Constitutively active signaling of MDA5 in Treg cells causes apoptosis of Treg cells and results in autoimmune diseases
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HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function
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Presenilin is essential for ApoE secretion, a novel role of presenilin involved in Alzheimer’s disease pathogenesis
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Study of the role of CRMP2 during the nervous system development in zebrafish
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Tenascin C Aggravates Autoimmune Myocarditis via Dendritic Cell Activation and Th17 Cell Differentiation
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Study on the function of fermented rice bran and its indole compounds in animal and cell-based inflammatory models
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精巣高発現タンパク質の精子形成における機能と応用
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Clinical efficacy of the combined treatment of anti-PD-L1 rat-bovine chimeric antibody with a COX-2 inhibitor in calves infected with Mycoplasma bovis
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Genetic and Physiological Characterization of Tomato F-box Gene HAWAIIAN SKIRT Mutants
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Studies on the molecular pathogenesis and the novel disease-associated genes in dogs with inflammatory colorectal polyps [an abstract of entire text]
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Inhibition of heat shock protein 90 destabilizes receptor tyrosine kinase ROR1 in lung adenocarcinoma
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Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
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Immunobiochemical, molecular biological, and reverse genetical studies on vitellogenin receptor candidates in medaka, Oryzias latipes [an abstract of entire text]
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Paraneoplastic Pemphigus Mimicking Toxic Epidermal Necrolysis Associated with Follicular Lymphoma: Possible Pathological Role of CD8 T Cells.
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Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
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Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
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Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
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Functional analysis of an opioid precursor gene expressed in regulatory T cells
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Functional analysis of P53 negative regulators in Bombyx mori
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Clinical Significance of Serum Galectin-9 and Soluble CD155 Levels in Patients with Systemic Sclerosis
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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
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Mechanisms of HIV-induced peripheral neuropathic pain by focusing on Schwann cell-macrophage interaction