「A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism」の関連論文
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
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Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Functional and genomic characterization of patient-derived xenograft model to study adaptation to mTORC1 inhibitor in clear cell renal cell carcinoma
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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
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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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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Improvement of mouse genome editing protocol and the application:investigation of the physiological roles of glycine receptor alpha 4 subunit.
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Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Ndufs4 ablation shows an elevated GFAP and a decreased synaptophysin expression in mouse hippocampus.
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Functional Analysis of Cancer-associated IDH mutations
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Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
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Collective fusion activity determines neurotropism of an en bloc transmitted enveloped virus
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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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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
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Genetic and Epigenetic Pathogenesis of Acromegaly
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Comprehensive behavioral analysis of the mice deficient in Akain1, a novel protein kinase A-binding protein.
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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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Constitutively active signaling of MDA5 in Treg cells causes apoptosis of Treg cells and results in autoimmune diseases
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JNK and Yorkie drive tumor malignancy by inducing L-amino acid transporter 1 in Drosophila
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Cell migration is impaired in XPA-deficient cells
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
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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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De Novo T790M Mutation in an L858R Epidermal Growth Factor Receptor Mutant-Associated Lung Adenocarcinoma
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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The landscape of genetic aberrations in myxofibrosarcoma
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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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Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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卵巣低異型度漿液性癌のin vitro発癌モデル
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Hippo-TAZ signaling is the master regulator of the onset of triple-negative basal-like breast cancers
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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
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Combination of target site mutation and associated CYPs confers high-level resistance to pyridaben in Tetranychus urticae
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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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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Functional analysis of an opioid precursor gene expressed in regulatory T cells
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Systemic recombination in a novel Cre transgenic line, CAG-Cre C57BL/6N mouse