Abstract:
:Genetic linkage analyses have traced the loci for multiple endocrine neoplasia type 2A (MEN 2A) to an interval on chromosome 10q11.2. This region encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in medullary thyroid carcinoma (MTC) and pheochromocytoma. By means of genomic polymerase chain reaction (PCR) amplification and DNA sequencing, we have analysed 19 individuals from two Japanese MEN 2A families for mutations of the RET proto-oncogene in exons 10 and 11. We conducted single-strand conformational polymorphism (SSCP) analysis of the RET proto-oncogene amplified from affected and unaffected family members. The DNA alterations in the RET proto-oncogene caused substitution of a cysteine for a serine at codon 620 in the exon 10 in three patients in one MEN 2A family, 1, and of a cysteine for a tyrosine at codon 634 in the exon 11 in six patients in the MEN 2A family, 2. We could find two asymptomatic MEN2A gene carriers who had no symptoms or signs of MEN 2A by DNA analysis of the RET proto-oncogene. No mutations in these exons were detected in any unaffected normal members of MEN 2A. A DNA alteration in the RET proto-oncogene coding sequence in exon 10 caused a shift on SSCP gels that was characteristic of the disease chromosome in the MEN 2A family, present only in affected members of the family. The DNA change could also be detected by restriction enzyme digestion with RsaI in family 2. Two MEN 2A patients with a cysteine for a tyrosine substitution at codon 634 in the exon 11 had parathyroid hyperplasia. We conclude that the identification of a DNA alteration in the MEN2A gene will permit predictive molecular testing of individuals at risk in these MEN 2A families and the PCR-restriction enzyme system will be useful for genetic diagnosis of members of these MEN 2A families. This information, by providing diagnostic certainty, should improve medical care for affected family members.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Oishi S,Sato T,Takiguchi-Shirahama S,Nakamura Ydoi
10.1507/endocrj.42.527subject
Has Abstractpub_date
1995-08-01 00:00:00pages
527-36issue
4eissn
0918-8959issn
1348-4540journal_volume
42pub_type
杂志文章abstract::This study aims to investigate the prevalence of islet autoantibodies and other organ-specific autoantibodies in type 1 diabetes mellitus (T1DM) patients and characterize their clinical features. Glutamic acid decarboxylase antibody (GADA), insulinoma antigen 2 antibody (IA-2A), zinc transporter 8 antibody (ZnT8A) and...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ20-0002
更新日期:2020-07-28 00:00:00
abstract::Fatigue is a common symptom in patients visiting the clinic of psychosomatic medicine. A 250-μg synthetic ACTH (1-24) test (rapid ACTH test) and Beck depression inventory (BDI) were performed for 62 patients presenting with fatigue who visited the Department of Psychosomatic Medicine at Fukuoka Tokushukai Hospital. Pa...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ19-0096
更新日期:2020-01-28 00:00:00
abstract::Following the accident at the Fukushima Daiichi Nuclear Power Station which occurred on March 11, 2011 due to the Eastern Japan Great Earthquake (the Accident), there have been concerns over elevation of the risk of thyroid cancer among children due to internal exposure to radioactive iodine. In Fukushima Prefecture, ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej14-0032
更新日期:2014-01-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ15-0523
更新日期:2016-01-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.46.337
更新日期:1999-04-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ15-0480
更新日期:2016-04-25 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ17-0356
更新日期:2018-01-30 00:00:00
abstract::We report herein the case of a 1-year-old boy with McCune-Albright syndrome (MAS) who presented with infantile-onset Cushing' s syndrome caused by ACTH independent macronodular adrenal hyperplasia (AIMAH). Abdominal CT, MRI, and adrenal scintigraphy with (131)I-adosterol identified bilateral adrenal involvement with t...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k10e-003
更新日期:2010-01-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ20-0557
更新日期:2021-01-28 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.44.357
更新日期:1997-06-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej12-0089
更新日期:2012-01-01 00:00:00
abstract::Some categories of drugs are known for causing hyperglycemia or diabetes such as steroids, antipsychotics, and immunosuppressant. However, there has been little evidence from studies about the proportion of each drug in the context of drug-induced diabetes. In this study, we used data from the Japanese Adverse Drug Ev...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ18-0553
更新日期:2019-06-28 00:00:00
abstract::We had a patient with asymptomatic hyper-immunoreactive glucagonemia and with no evidence of pancreatic tumor detected by radiological examinations. The glucagon level was not decreased by the administration of glucose or somatosatin analogue (SMS 201-995). Gel filtration studies revealed that most glucagon immunoreac...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.42.455
更新日期:1995-08-01 00:00:00
abstract::In recent times, the role of fibroblast growth factor 21 (FGF21) in patients with gestational diabetes mellitus (GDM) has been increasingly investigated. However, to our knowledge, no systematic analysis has been conducted yet to evaluate the relationship between FGF21 levels and GDM. Confirmed studies related to circ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ20-0481
更新日期:2020-11-06 00:00:00
abstract::Thyrotropin levels are outside normal reference range in subclinical thyroid disease. Metabolic syndrome (MetS) involves clustered cardiovascular risk factors, including abnormal lipids, insulin resistance, and hypertension. This study aimed to investigate associations between subclinical thyroid disease, thyrotropi...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej12-0076
更新日期:2012-01-01 00:00:00
abstract::Parathyroidectomy (PTX) is the standard treatment for secondary hyperparathyroidism (SHPT); however, the administration of cinacalcet has gained prominence as a noninvasive treatment. We aimed to determine whether PTX or cinacalcet is more effective in preventing morbidity and mortality through reviewing follow-up dat...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ19-0036
更新日期:2019-10-28 00:00:00
abstract::There are two main subtypes of GH-producing pituitary adenoma: densely granulated (DG-type) and sparsely granulated (SG-type). Despite the difference in drug responsiveness between the two subtypes, their molecular mechanisms remain unknown. The aim of this study is to evaluate the differential expression of genes r...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej11-0177
更新日期:2012-01-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.52.605
更新日期:2005-10-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章,随机对照试验
doi:10.1507/endocrj.k05-098
更新日期:2007-02-01 00:00:00
abstract::The presence of human progesterone receptor (PR) mRNA variants has been demonstrated in uterine endometrium and breast tissues as well as in cancer cells of these tissues. While exon deletions by the alternative splicing in these variants have been reported, there are few reports available on the PR mRNA variants with...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.49.473
更新日期:2002-08-01 00:00:00
abstract::Musk is a secreted external hormone or information compound that is stored in musk scent glands of the males of species within the family Moschidae, such as Moschus berezovskii. The secretion of musk changes periodically during the courtship and reproduction periods, with the early stage of secretion occurring from Ma...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ18-0211
更新日期:2018-11-29 00:00:00
abstract::Seven patients with growth hormone (GH)-secreting pituitary adenoma were treated preoperatively with octreotide (Sandostatin or SMS 201-995; a somatostatin analogue), and were compared with 18 non-treated patients in their clinical courses and adenoma analyses. Octreotide treatment improved the endocrinological data i...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.41.437
更新日期:1994-08-01 00:00:00
abstract::Thyrotropin-releasing hormone (TRH)-stimulated thyroid stimulating hormone (TSH) response in normal subjects is suppressed by oral glucose administration. Pharmacologic studies indicate that this suppressive action of glucose is mediated by an increase in hypothalamic somatostatin (SRIH) tone. Since activation of the ...
journal_title:Endocrine journal
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1507/endocrj.52.69
更新日期:2005-02-01 00:00:00
abstract::Thyroid cancer and Graves' disease may present simultaneously in one patient. The incidence of the development of hyperthyroidism from metastatic differentiated thyroid carcinoma is rare. We herein report a case of metastatic follicular carcinoma complicated with Graves' disease after total thyroidectomy. A 57-year-ol...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ17-0220
更新日期:2017-12-28 00:00:00
abstract::Plasma total homocysteine (tHcy) is an independent risk factor for cardiovascular disease and increased tHcy levels have been reported to be a novel risk factor of atherosclerotic disease. The aim of this study was to assess the association of the metabolic syndrome components with plasma (tHcy) level. Total 722 parti...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k07e-018
更新日期:2007-12-01 00:00:00
abstract::In this study, we evaluated the association between bone mineral density (BMD) and 10 single-nucleotide polymorphisms (SNPs) within eight osteoporosis susceptibility genes that were previously identified in genome-wide association studies (GWASs). A total of 494 men and 493 postmenopausal women participating in the Ch...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej14-0119
更新日期:2014-01-01 00:00:00
abstract::The aim of the study was to explore the relationship between daily glycemic variability (GV) and visit-to-visit glycemic variability (VVV) in patients with type 2 diabetes (T2DM). A total of 156 outpatients with T2DM who had undergone continuous glucose monitoring (CGM) for 5 days were included in this study. Indices ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ20-0012
更新日期:2020-08-28 00:00:00
abstract:PURPOSE:Surgical removal of growth hormone-producing pituitary adenomas (GHomas) becomes difficult when they invade the cavernous sinus (CS). We investigated the relation among tumor proliferative potential, tumor volume and invasion of GHomas to CS. MATERIALS & METHODS:15 patients with GHoma aged 20-59 years were enr...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.47.supplmarch_s77
更新日期:2000-03-01 00:00:00
abstract::The onset of physical signs in infants with hypophosphatemic vitamin D resistant rickets (HDRR) has generally been considered to be at the age of 12 months, but the time of appearance of hypophosphatemia and rachitic signs on radiographs remains unclear. We report a prospective study in three neonates whose mothers we...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.43.339
更新日期:1996-06-01 00:00:00
abstract::Immunocytochemical staining and cell immunoblot assay (CIBA) were performed in adenoma tissue from five patients with Cushing's disease and three patients with clinically silent corticotroph adenomas. All five patients with Cushing's disease showed hypersecretion of ACTH (130, 190, 331, 120, and 130 pg/ml), high level...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.49.285
更新日期:2002-06-01 00:00:00