نتایج جستجو برای: mody
تعداد نتایج: 686 فیلتر نتایج به سال:
A 1997 article by Mody, Studdert-Kennedy, and Brady claimed that their studies constituted a critical test of two hypotheses concerning students with reading impairment: (a) that they experience speech-specific failure in phonological representation, and (b) they display general deficits in auditory temporal processing. From these studies, the authors concluded that their findings were consiste...
BACKGROUND To analyze the gene mutation and mental disorder of a Chinese ketosis-prone diabetes (KPD) family, and to make a precise diagnosis and give a treatment for them. METHODS We studied a Chinese family with a clinical diagnosis of maturity-onset diabetes of the young (MODY). The clinical data and the blood samples were collected. The promotor and coding regions inclusive intron exon bo...
Overnutrition and genetics both contribute separately to pancreatic β-cell dysfunction, but how these factors interact is unclear. This study was aimed at determining whether microRNAs (miRNAs) provide a link between these factors. In this study, miRNA-24 (miR-24) was highly expressed in pancreatic β-cells and further upregulated in islets from genetic fatty (db/db) or mice fed a high-fat diet,...
BACKGROUND Permanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has a genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS and ABCC8 genes. Homozygous or compound heterozygous inactivating mutations in GCK gene as cause of PNDM are rare. In con...
CONTEXT There are interplays between the endocrine and exocrine pancreas. We recently reported an increased frequency of exocrine dysfunction in HNF1A-maturity-onset diabetes of the young (MODY3) patients, compared with controls. Reduced pancreatic volume is seen in HNF1B-MODY (MODY5) and diabetes types 1 and 2. OBJECTIVE The aim of this study was to investigate whether HNF1A mutation carrier...
Six monogenic forms of maturity-onset diabetes of the young (MODY) have been identified to date. Except for MODY2 (glucokinase), all other MODY subtypes have been linked to transcription factors. We have established a MODY3 transgenic model through the beta-cell-targeted expression of dominant-negative HNF-1alpha either constitutively (rat insulin II promoter) or conditionally (Tet-On system). ...
OBJECTIVE To evaluate the heterogeneity in the clinical expression in a family with glucokinase mature-onset diabetes of the young (GCK-MODY). RESEARCH DESIGN AND METHODS Members (three generations) of the same family presented either with overt neonatal hyperglycemia, marked postprandial hyperglycemia, or glucosuria. Homeostasis model assessment of insulin resistance (HOMA(IR)) and insulinog...
Submit Manuscript | http://medcraveonline.com is based on the multiple pathophysiological effects involved in its pathogenesis, as well as dissection of its possible overlapping genetic component in families with DM presenting different forms of inheritance in conjunction with type 2 DM. Unfortunately it is not known, even the frequency of these overlapping positions, nor have all the phenotype...
Heterozygous mutations in the genes encoding transcriptional regulators hepatocyte nuclear factor (HNF)1 and HNF-4 cause a form of diabetes known as maturity-onset diabetes of the young (MODY). Haploinsufficiency of HNF-1 or HNF-4 results in MODY because of defective function of pancreatic islet cells. In contrast, homozygous null mutations in mouse models lead to widespread and profound gene e...
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