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Graphitization of carbonaceous matter during metamorphism with references to carbonate and pelitic rocks of contact and regional metamorphisms, Japan
This study is an attempt to correlate the graphitization process of carbonaceous matter during metamorphism with metamorphic grade. Graphitization can be parameterized using crystal structure andExpand
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Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
For the identification of susceptibility loci for primary biliary cirrhosis (PBC), a genome-wide association study (GWAS) was performed in 963 Japanese individuals (487 PBC cases and 476 healthyExpand
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Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
Adrenal hypoplasia congenita (AHC) is an X-linked disorder caused by mutations in a gene referred to as DAX-1. AHC is characterized by adrenal insufficiency and failure to undergo puberty because ofExpand
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Attenuation of postmenopausal high turnover bone loss in patients with hypoparathyroidism.
To elucidate the role of PTH in postmenopausal bone loss, we studied 33 postmenopausal patients who received total thyroidectomy due to thyroid carcinoma. Among these patients, 13 were patients withExpand
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Low frequency of BRAFT1796A mutations in childhood thyroid carcinomas.
A high prevalence of the activating BRAF mutation, BRAF(T1796A), is observed in adult papillary thyroid carcinomas (PTCs). The prognosis of childhood PTCs is generally fairly good despite the factExpand
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BRAFV600E mutation is highly prevalent in thyroid carcinomas in the young population in Fukushima: a different oncogenic profile from Chernobyl
After the accident at the Fukushima Daiichi Nuclear Power Plant, the thyroid ultrasound screening program for children aged 0–18 at the time of the accident was started from October 2011. TheExpand
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Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
DAX-1 is an orphan nuclear receptor that plays a key role in the development and function of the adrenal gland and hypothalamic-pituitary gonadal axis. Mutations in the gene encoding DAX-1 result inExpand
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The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.
A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypotonia (Duchenne muscular dystrophy [DMD]) was previously shown to carry a pericentric inversion of theExpand
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Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus.
  • H. Yuasa, M. Ito, +4 authors H. Saitō
  • Biology, Medicine
  • The Journal of clinical endocrinology and…
  • 1 September 1993
The arginine vasopressin (AVP) gene was sequenced in a pedigree with familial central diabetes insipidus (DI). When polymerase chain reaction-amplified DNAs from affected subjects were subjected toExpand
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Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.
Familial central diabetes insipidus is an autosomal dominant disease caused by a deficiency of arginine vasopressin (AVP). We previously reported three distinct mutations in the AVP gene in JapaneseExpand
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