「Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants」の関連論文
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
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The association of thyroglobulin single nucleotide polymorphism with miniature dachshunds-specific inflammatory colorectal polyps and its involvement in interleukin-6 amplifier induced chronic inflammation
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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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Lusutrombopag effectively promotes the growth and differentiation of megakaryocytic cells from patients with myelodysplastic syndrome
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The landscape of genetic aberrations in myxofibrosarcoma
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Genome-wide association study of serum prostate-specific antigen levels based on 1000 Genomes imputed data in Japanese : the Japan Multi-Institutional Collaborative Cohort Study
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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Genomic analysis for the prediction of prognosis in small-bowel cancer
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Genomic analysis for the prediction of prognosis in small-bowel cancer
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Studies on DNA methylation changes in canine malignant melanoma [an abstract of entire text]
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Latest classification of ependymoma in the molecular era and advances in its treatment: a review
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Neoadjuvant chemotherapy promotes the expression of HER3 in patients with ovarian cancer
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Evolutionary histories of breast cancer and related clones
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Establishment of induced pluripotent stem cells from schizophrenia discordant fraternal twins
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Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
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A new insight into GH regulation and its disturbance from nutrition and autoimmune perspectives
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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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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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Evolutionary genetics of socioemotional behavior in humans and other mammals
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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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A proteome signature of umbilical cord serum associated with congenital diaphragmatic hernia
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Cooperative participation of epigenomic and genomic alterations in the clinicopathological diversity of gastric adenocarcinomas : significance of cell adhesion and epithelial–mesenchymal transition-related signaling pathways (本文)
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Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency
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Impairment of DYRK2 by DNMT1-mediated transcription augments carcinogenesis in human colorectal cancer
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A genome-wide association study identifying single nucleotide polymorphisms in the PPFIBP2 gene was predictive for interstitial lung disease in rheumatoid arthritis patients
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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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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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Beneficial screening of Fabry disease in patients with hypohidrosis
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Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population
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Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation
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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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A case of eosinophilic polyangiitis with granulomatosis that evolved to cardiac arrest due to advanced atrioventricular block
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Study on the Function of α-Defensin, Paneth cell-secreted Antimicrobial Peptide, as a Regulator of Intestinal Ecological System under Psychological Stress
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Identifying Potentially Beneficial Genetic Mutations Associated with Monophyletic Selective Sweep and a Proof-of-Concept Study with Viral Genetic Data
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BMP and activin membrane-bound inhibitor (BAMBI) regulates mesothelioma cell proliferation and clinical outcome
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BMP and activin membrane-bound inhibitor (BAMBI) regulates mesothelioma cell proliferation and clinical outcome
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Tumour-immune microenvironment in duodenal-type follicular lymphoma
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Usefulness of interleukin-18 as a diagnostic biomarker to differentiate adult-onset Still’s disease with/without macrophage activation syndrome from other secondary hemophagocytic lymphohistiocytosis in adults
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias
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Frequent PIK3CA mutations in eutopic endometrium of patients with ovarian clear cell carcinoma
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Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method
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コーヒー成分に含まれるクロロゲン酸とカフェインは膵β細胞のインスリンシグナルを改善する
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Temporal arteritis with focal pachymeningitis: a deceptive association