「Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7<Abstract of dissertation>」の関連論文
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甲状腺刺激ホルモン (TSH)によるSlc26a7の発現調節機構の解明
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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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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Riboflavin transporter SLC52A1, a target of p53, suppresses cellular senescence by activating mitochondrial complex II
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Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Wilson’s disease model establishment from human induced pluripotent stem cells
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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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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Mechanisms by which Bacterial and Viral Pathogens cause Ovarian dysfunction
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Ndufs4 ablation shows an elevated GFAP and a decreased synaptophysin expression in mouse hippocampus.
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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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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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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Discovery and biological significance of the sialate:O-sulfotransferases in vertebrates
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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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Role of carbonic anhydrases in ferroptosis-resistance
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Glucose transporter Glut1 controls diffuse invasion phenotype with perineuronal satellitosis in diffuse glioma microenvironment
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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
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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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JNK and Yorkie drive tumor malignancy by inducing L-amino acid transporter 1 in Drosophila
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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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A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b
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Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils
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Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils
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Pigmentation and TYRP1 expression are mediated by zinc through the early secretory pathway-resident ZNT proteins
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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Beta-1,4-galactosyltransferase-3 deficiency suppresses the growth of immunogenic tumors in mice
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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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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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Conserved Double Translation Initiation Site for Δ160p53 Protein Hints at Isoform’s Key Role in Mammalian Physiology
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Identification of calcium and integrin-binding protein 1 (CIB1) as a novel regulator of production of Amyloid β peptide using CRISPR/Cas9-based screening system
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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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Cholesterol accumulation in ovarian follicles causes ovulation defects in Abca1a⁻/⁻ Japanese medaka (Oryzias latipes)
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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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Immunoreactivity of urate transporters, GLUT9 and URAT1, is located in epithelial cells of the choroid plexus of human brains
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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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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
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MAGI-2 orchestrates the localization of backbone proteins in the slit diaphragm of podocytes
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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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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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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Study on the role of CtBP2 in pancreatic β cell
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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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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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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