「A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism」の関連論文
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CEBPγ facilitates lamellipodia formation and cancer cell migration through CERS6 upregulation
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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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MECHANISTIC ANALYSIS OF THE INITIATION OF RETROVIRAL GENE SILENCING BY REPROGRAMMING FACTORS
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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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Genetic and Physiological Characterization of Tomato F-box Gene HAWAIIAN SKIRT Mutants
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Study of the role of CRMP2 during the nervous system development in zebrafish
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The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy
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Clinicopathological significance of EGFR pathway gene mutations and CRTC1/3–MAML2 fusions in salivary gland mucoepidermoid carcinoma
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Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
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Study on Accessory Gene Regulator(AGR)Variants in Staphylococcus aureus
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セレン結合タンパク質1(Selenbp1)欠損マウスを用いたSelenbp1の特性評価に関する研究
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Natural genetic transformation mediates MRSA emergence
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Gut contractile organoids: a novel model system to study the cellular synchronization in gastrointestinal motility
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Functional analysis of P53 negative regulators in Bombyx mori
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Pcgf1 gene disruption reveals primary involvement of epigenetic mechanism in neuronal subtype specification in the enteric nervous system
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Genome-scale CRISPR/Cas9 screening for gemcitabine modulators in pancreatic cancer
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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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MAGI-2 orchestrates the localization of backbone proteins in the slit diaphragm of podocytes
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Hes1 is essential in proliferating ductal cell-mediated development of intrahepatic cholangiocarcinoma
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The Roles of Cancer-Associated Fibroblasts in Colorectal Carcinogenesis
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Tenascin C Aggravates Autoimmune Myocarditis via Dendritic Cell Activation and Th17 Cell Differentiation
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SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
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Immunohistochemical assessment of sex-determining region Y (SRY)-related high mobility group (HMG)-box 2 (Sox2) and Krüppel-like factor 4 (Klf4) in ameloblastomas
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Mechanism-Based Personalized Medicine for Cystic Fibrosis by Suppressing Pseudo Exon Inclusion
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Annexin A10 is involved in the induction of pancreatic duodenal homeobox-1 in gastric cancer tissue, cells and organoids
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Annexin A10 is involved in the induction of pancreatic duodenal homeobox-1 in gastric cancer tissue, cells and organoids
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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The ocular involvement did not accompany with the genital ulcer or the gastrointestinal symptoms at the early stage Behcet’s disease
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Lusutrombopag effectively promotes the growth and differentiation of megakaryocytic cells from patients with myelodysplastic syndrome
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The mechanistic role of fatty acid binding protein 7 (FABP7) in tumor proliferation
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iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome
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Inhibition of glycine cleavage system by pyridoxine 5'-phosphate causes synthetic lethality in glyA yggS and serA yggS in Escherichia coli
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Genetic and chemical inhibition of IRF5 suppresses pre-existing mouse lupus-like disease
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Identification of T cell receptors targeting a neoantigen derived from recurrently mutated FGFR3
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Disrupted Cav1.2 Selectivity Causes Overlapping Long QT and Brugada Syndrome Phenotypes in CACNA1C-E1115K iPS Cell Model
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Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
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Molecular analysis of drug resistance associating gene mutations in Mycobacterium tuberculosis clinical isolates in Nepal [an abstract of entire text]
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TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2
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Studies on the Enhancement of Antitumor Effect by Drug Combination in Molecular-Targeted Therapy of Cancer
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Inflammatory bowel disease-associated ubiquitin ligase RNF183 promotes lysosomal degradation of DR5 and TRAIL- induced caspase activation
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Inflammatory bowel disease-associated ubiquitin ligase RNF183 promotes lysosomal degradation of DR5 and TRAIL- induced caspase activation
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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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miR-142 induces accumulation of reactive oxygen species (ROS) by inhibiting pexophagy in aged bone marrow mesenchymal stem cells
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Neural Isoforms of Agrin Are Generated by Reduced PTBP1−RNA Interaction Network Spanning the Neuron−Specific Splicing Regions in AGRN
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Cardio- and reno-protective effects of dipeptidyl peptidase III in diabetic mice.
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Study of Mitochonic Acid 5 to improve neuromuscular dysfunction associated with aging and diseases using C. elegans