Multiple endocrine neoplasia-type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by tumors in parathyroids, enteropancreatic endocrine tissues, and the anterior pituitary. DNA sequencing from a previously identified minimal interval on chromosome 11q13 identified several candidate genes, one of which contained 12 different frameshift, nonsense, missense, and in-frame deletion mutations in 14 probands from 15 families. The MEN1 gene contains 10 exons and encodes a ubiquitously expressed 2.8-kilobase transcript. The predicted 610-amino acid protein product, termed menin, exhibits no apparent similarities to any previously known proteins. The identification of MEN1 will enable improved understanding of the mechanism of endocrine tumorigenesis and should facilitate early diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1126/science.276.5311.404 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
New insights into the regulation of cyp3a65 expression in transgenic tg(cyp3a65:GFP) zebrafish embryos.
Aquat Toxicol
January 2025
Unité écotoxicologie des substances et des milieux, Institut National de l'Environnement Industriel et des Risques (INERIS), 60550 Verneuil-en-Halatte, France. Electronic address:
Facing the need for alternative models allowing assessment of metabolic-endocrine disrupting chemicals (MDCs), especially in poorly investigated tissues such as the intestine, we recently developed a transgenic zebrafish embryo in vivo model, tg(cyp3a65:GFP), expressing the Green Fluorescent Protein (GFP) under the control of the zebrafish cyp3a65 promoter, ortholog of human cyp3a4, a gene coding for a key enzyme of intestinal xenobiotic and endobiotic metabolism. In this study, we aimed to better understand the regulation of cyp3a65 expression by zfPXR, zfAhR2, and zfGR zebrafish orthologs of well-known human xenosensors PXR and AhR, and steroid nuclear receptor GR. For this purpose, we performed zebrafish embryo tg(cyp3a65:GFP) (co)exposures to a variety of agonists (clotrimazole, TCDD, fluticasone propionate) and antagonists (econazole nitrate, CH223181, RU486), which were characterized using in vitro zebrafish reporter gene assays.
View Article and Find Full Text PDFSelected plant extracts and female fertility: role in the regulation of the hypothalamo-pituitary-ovarian axis in normal and pathological conditions.
Reprod Fertil Dev
January 2025
CNRS, INRAE, Université de Tours, PRC, Nouzilly, France.
Female infertility, which affects 10-20% of couples worldwide, is a growing health concern in developing countries. It can be caused by multiple factors, including reproductive disorders, hormonal dysfunctions, congenital malformations and infections. In vitro and in vivo studies have shown that plant extracts regulate gonadotropin-releasing hormone, kisspeptin, and gonadotropin expression and/or secretion at the hypothalamic-pituitary level and modulate somatic and germ cells, such as steroidogenesis, proliferation, apoptosis, and oxidative stress at the ovarian level.
View Article and Find Full Text PDFInsulitis and exocrinitis in autoantibody-positive non-diabetic individuals: role of HLA genotypes.
J Clin Endocrinol Metab
January 2025
Université Paris Cité, Institut Cochin, CNRS, INSERM, Paris, France.
Context: Type 1 diabetes (T1D) is characterized by the presence of autoantibodies on a genetic background largely determined by HLA class II haplotypes. Stage 1 T1D is characterized by the presence of multiple autoantibodies and normoglycemia.
Objective: To investigate the prevalence of high-risk HLA-DQB1 haplotypes and the extent of islet autoimmunity in pancreatic tissues from non-diabetic organ donors with autoantibodies.
Proteomic Profiling of Medullary Thyroid Cancer Identifies CAPN1 as a Key Regulator of NF1 and RET Fueled Growth.
Thyroid
January 2025
Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
Medullary thyroid cancer (MTC) is a frequently metastatic tumor of the thyroid that develops from the malignant transformation of C-cells. These tumors most commonly have activating mutations within the RET or RAS proto-oncogenes. Germline mutations within RET result in C-cell hyperplasia, and cause the MTC pre-disposition disorder, multiple endocrine neoplasia, type 2A (MEN2A).
View Article and Find Full Text PDFPseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!