「Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus」の関連論文
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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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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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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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Study of the role of CRMP2 during the nervous system development in zebrafish
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Ndufs4 ablation shows an elevated GFAP and a decreased synaptophysin expression in mouse hippocampus.
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
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Cellular senescence in white matter microglia is induced during ageing in mice and exacerbates the neuroinflammatory phenotype
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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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Systemic recombination in a novel Cre transgenic line, CAG-Cre C57BL/6N mouse
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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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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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MAGI-2 orchestrates the localization of backbone proteins in the slit diaphragm of podocytes
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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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DNA methyltransferase 3B plays a protective role against hepatocarcinogenesis caused by chronic inflammation via maintaining mitochondrial homeostasis
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The role of H3K27 demethylation in retinal development
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Mechanisms by which Bacterial and Viral Pathogens cause Ovarian dysfunction
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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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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MDGA1-deficiency attenuates prepulse inhibition with alterations of dopamine and serotonin metabolism : An ex vivo HPLC-ECD analysis
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1
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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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MafB is important for pancreatic β-cell maintenance under a MafA deficient condition
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The generation and insights of an inducible diabetes mellitus mouse model based on MafA and MafB double knockout
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Glucose transporter Glut1 controls diffuse invasion phenotype with perineuronal satellitosis in diffuse glioma microenvironment
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Neuroinflammation in neurodegenerative disease
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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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Trp53 Mutation in Keratin 5 (Krt5)-Expressing Basal Cells Facilitates the Development of Basal Squamous-Like Invasive Bladder Cancer in the Chemical Carcinogenesis of Mouse Bladder
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Study on the role of CtBP2 in pancreatic β cell
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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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Generation and evaluation of a transgenic zebrafish for tissue-specific expression of a dominant-negative Rho-associated protein kinase-2
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Histological analysis of the skin of Abca1-deleted mice : A potential model for dry skin
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Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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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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Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets
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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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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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Functional studies of the egg cortical alveolus proteases on fertilization of medaka
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Gut contractile organoids: a novel model system to study the cellular synchronization in gastrointestinal motility
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants