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PedAM

Pediatric Disease Annotations & Medicines




Disease maturity-onset diabetes of the young
Phenotype |maturity-onset diabetes
Sentences 137
PubMedID- 20886378 This new knowledge means that patients who were previously categorized clinically as having maturity-onset diabetes of the young (mody), permanent neonatal diabetes mellitus, or transient neonatal diabetes mellitus can now usually be classified by genetic subgroup.
PubMedID- 22162806 Moreover, rare cel gene defects in this region are responsible for a monogenically derived diabetes condition called maturity-onset diabetes of the young type 8 (mody8), also known as diabetes and pancreatic exocrine dysfunction (dped), which causes a defect in insulin secretion [31, 32].
PubMedID- 23803251 Hnf1a: hepatocyte nuclear factor-1alpha; hnf4a: hepatocyte nuclear factor-4alpha; mody: maturity-onset diabetes of the young; psp/reg: pancreatic stone protein / regenerating protein; hscrp: high-sensitivity c-reactive protein; dn: dominant-negative; elisa: enzyme-linked immunosorbent assay; glut-2: glucose transporter 2; ins-1: insulinoma cell line-1; roc: receiver operating characteristic (roc); lda: linear discriminant analysis.
PubMedID- 23110382 Lada (latent autoimmune diabetes in adults), mody (maturity-onset diabetes of the young), pre-diabetes, diabetes in remission.
PubMedID- 20938745 Pndm, permanent neonatal diabetes mellitus; tndm, transient neonatal diabetes mellitus; mody, maturity-onset diabetes of the young; t1bdm, type 1b diabetes mellitusfig.
PubMedID- 21390319 The decreased serum apom level in maturity-onset diabetes of the young subjects as compared to the controls could be explained by the hnf-1 alpha mutations in these patients [28].
PubMedID- 21625646 It is worth to highlight here the maturity-onset diabetes of the young (mody) and the neonatal diabetes case, as a case study of successful treatment.
PubMedID- 22309939 Kinases in the figure: cdc2l1, cell-division cycle 2-like 1 (pitslre proteins); chek1, chk1 checkpoint homologue (s. pombe); cdc2, cell-division cycle 2, g1 to s and g2 to m; csnk2a2, casein kinase 2, alpha prime polypeptide; dguok, deoxyguanosine kinase; gck, glucokinase (hexokinase 4, maturity-onset diabetes of the young 2); irak1, interleukin-1 receptor-associated kinase 1; map3k4, alpha mitogen-activated protein kinase kinase kinase 4; pdgfra, platelet-derived growth factor receptor, alpha polypeptide; pfkfb2, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2; pik3c2g, phosphoinositide-3-kinase, class 2, gamma polypeptide; pik4cb, phosphatidylinositol 4-kinase, catalytic, beta polypeptide; phkg2, phosphorylase kinase, gamma 2 (testis); pftk1, pftaire protein kinase 1; plau, plasminogen activator, urokinase; plk1, polo-like kinase 1 (drosophila); prkcd, protein kinase c, delta; skp2: s-phase kinase-associated protein 2 (p45); rps6ka2, ribosomal protein s6 kinase, 90 kda, polypeptide 2; ttk, ttk protein kinase; vrk2, vaccinia-related kinase 2; ihpk1, inositol hexaphosphate kinase 1; pkig, protein kinase (camp-dependent, catalytic) inhibitor gamma; mapk8ip3, mitogen-activated protein kinase 8-interacting protein 3; prkd2, protein kinase d2; pi4k2b, phosphatidylinositol 4-kinase type-ii beta; uck1, uridine-cytidine kinase 1; loc392265, similar to cell-division protein kinase 5 (tau protein kinase ii catalytic subunit) (tpkii catalytic subunit) (serine/threonine-protein kinase pssalre).
PubMedID- 23419424 Patients with normal c-peptide levels, those who were considered to have maturity-onset diabetes of the young (mody) based on the family history and clinical findings, those with t2dm, and those with a chronic disease (such as thalassemia, cystic fibrosis, drug-induced types) were excluded from the study.
PubMedID- 20056949 Subjects who tested positive for anti-gad antibodies and those with mitochondrial disease (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) or maturity-onset diabetes of the young (mody) were not included.
PubMedID- 21829439 maturity-onset diabetes of the young (mody) [28].
PubMedID- 21193628 They are referred to as maturity-onset diabetes of the young (mody) and are characterized by impaired insulin secretion with minimal or no defects in insulin action.
PubMedID- 26442106 Tested against kegg database, enriched pathways unique to the tumors included abc transporters, lysine degradation, mody (maturity-onset diabetes of the young), pantothenate and coa biosynthesis, cell cycle, and cell adhesion as well as olfactory receptors (table 3).
PubMedID- 23282078 We reported that psmd9 may rarely cause t2d by unique mutations [12] and that is linked to t2d [13], maturity-onset diabetes of the young 3 (mody3) [14], t2d-microvascular [15-18] and t2d-macrovascular complications [19], hypercholesterolemia [20], hypertension [21], carpal tunnel syndrome [22], and depression [23].
PubMedID- 23032149 Loss-of-function hnf4a mutations cause maturity-onset diabetes of the young type 1 (mody1), which is characterized by progressive β-cell destruction and failure of glucose-induced insulin secretion (70,71).
PubMedID- 24497937 Among these pathways, six (glycolysis/gluconeogenesis, fatty acid metabolism, tyrosine metabolism, pyrimidine metabolism, peroxisome and maturity-onset diabetes of the young) were focused on metabolic pathways.
PubMedID- 21324932 For example, point mutations in the gck gene give rise to maturity-onset diabetes of the young 2 (gck-mody2) in humans and to a similar phenotype in the mouse (e.g.
PubMedID- 24023612 The sequence variations in or near the blk gene have been shown to cosegregate with maturity-onset diabetes of the young (mody) in familial studies.
PubMedID- 25598768 Using wes in the maturity-onset diabetes of the young (mody) patients, the same research group found one mutation (p.glu227lys) in kcnj11, indicating that such mody patients can be ideally treated with oral sulfonylureas [51].
PubMedID- 20226046 Gad: glutamic acid decarboxylase; gdm: gestational diabetes mellitus; ins: insulin gene; mody: maturity-onset diabetes of the young; pndm: permanent neonatal diabetes mellitus.
PubMedID- 23264425 They are referred to as maturity-onset diabetes of the young (mody) and are characterized by impaired insulin secretion with minimal or no defects in insulin action.
PubMedID- 26417406 Patients who have diabetic conditions other than type 2 diabetes, such as diabetes associated with chronic pancreatitis49, maturity-onset diabetes of the young with hepatocyte nuclear factor-1α (hnf1α) mutation51 and gestational diabetes52, also have the decreased incretin effect.
PubMedID- 25619391 Liraglutide is effective in patients with maturity-onset diabetes of the young (mody) 3, and produces lower hypoglycemic risk than glimepiride9.
PubMedID- 22028181 We tested the hypothesis that gk mutants that cause maturity-onset diabetes of the young (gk-mody) show compromised activity and posttranslational regulation in β-cells.
PubMedID- 24586696 Heterozygous inactivating gck mutations cause maturity-onset diabetes of the young (mody), homozygous or compound heterozygous inactivating mutations cause permanent neonatal diabetes mellitus (pndm), and heterozygous activating mutations cause congenital hyperinsulinism (chi) [10].
PubMedID- 23346354 Our data is consistent with clinical investigation, in which a dramatic reduction in sp1 binding to gck promoter sequence corresponds to gck-mody (maturity-onset diabetes of the young) cases33.
PubMedID- 20571754 However, it is worth noting that not all glucose-raising loci appear to influence type 2 diabetes risk [11], possibly because some loci may cause modest elevations in glucose concentrations that do not worsen over time, as observed in maturity-onset diabetes of the young [17].
PubMedID- 23610083 Hepatocyte nuclear factor-1a maturity-onset diabetes of the young (hnf1a-mody) is a monogenic form of non-insulin-dependent diabetes caused by heterozygous mutations in the hnf1a gene (1).
PubMedID- 25723573 In addition to cell-compartmental differences, pathways/processes such as “maturity-onset diabetes of the young (kegg pathways)”, “adipocytokine signalling pathway (kegg pathways)”, and processes involved in pancreas biology and development were found to be significant for the production of sappα but not for sappβ (see s10 supplementary information).
PubMedID- 20181263 Patients with clinical or autoimmune type 1 diabetes and families with known maturity-onset diabetes of the young or mitochondrial dna nucleotide 3243 a > g mutations were excluded.
PubMedID- 26417411 maturity-onset diabetes of the young (mody) is a monogenic form of diabetes that arises from one or more mutations in a single gene, and 13 disease genes for mody have been identified1; for example, the disease gene of mody5 is hnf1b1.
PubMedID- 26384018 Dominant genetic forms that become symptomatic during adolescence or early adulthood are also referred to as maturity-onset diabetes of the young (mody), while neonatal diabetes generally manifests in the first 6 months of life, and can result from dominant as well as recessive mutations24.
PubMedID- 23251491 However, only the maturity-onset diabetes of the young (mody) gene hnf4a[36] and the t2d gene cdkn2a[37] in sat had significant permutation adjusted p-values.
PubMedID- 21700917 maturity-onset diabetes of the young (mody) is a rare monogenic form of diabetes and is often misdiagnosed as type 1 diabetes or type 2 diabetes (1,2).
PubMedID- 24734255 The maturity-onset diabetes of the young (mody) is a familial monogenic form of early-onset type 2 diabetes, which usually develops in childhood, adolescence, or young adulthood [105].
PubMedID- 23033245 We planned to exclude any autoantibody-negative children with diabetes occurring in three successive generations as suspected mody (maturity-onset diabetes of the young) cases.
PubMedID- 21189947 Mutations in the genes encoding hnf-1β produce an autosomal dominant disorder maturity-onset diabetes of the young, type 5 (mody5), also known as renal cysts and diabetes (rcad), because affected individuals present with severe cystic kidney disease40).
PubMedID- 23846810 Thus patients with maturity-onset diabetes of the young or other specific types of diabetes may have been erroneously diagnosed as having type 2 diabetes and enrolled in this study.
PubMedID- 23519111 Monogenic diabetes, also called maturity-onset diabetes of the young (mody), accounts for about 2%–5% of all diabetic patients [4].
PubMedID- 22355214 Additionally, mutation in the gene is associated with maturity-onset diabetes of the young type iii (mody3) [16,17], indicating the important biological role of hnf-1α in glucose metabolism.
PubMedID- 21709279 In a separate model, mice exposed to tcdd had reduced glucokinase gene expression (33), predicting a rise in blood glucose levels analogous to that seen in maturity-onset diabetes of the young type 2. others have suggested that the diabetogenic effects of tcdd are mediated through an antagonism of peroxisome proliferator–activated receptor-γ (pparγ) action (34) or through upregulation of the inflammatory adipokine tumor necrosis factor-α (tnf-α) in adipocytes (35).
PubMedID- 25621134 The following were excluded: (i) patients with diabetes undergoing thiazolidinedione therapy; (ii) patients with diagnosed diabetic nephropathy or neuropathy; (iii) patients with acute or chronic inflammatory disease; and (iv) patients with type 1 diabetes, maturity-onset diabetes of the young or mitochondrial diabetes.
PubMedID- 22187472 They are referred to as maturity-onset diabetes of the young (mody) and are characterized by impaired insulin secretion with minimal or no defects in insulin action.
PubMedID- 24476040 Thus, patients previously categorized clinically as having maturity-onset diabetes of the young (mody), permanent neonatal diabetes mellitus (ndm), or transient ndm, can now be classified by genetic sub grouping.
PubMedID- 24606082 maturity-onset diabetes of the young (mody) accounts for approximately 5% of all diabetes cases diagnosed before the age of 45 years (1).
PubMedID- 23342076 Subjects who tested positive for anti-glutamic acid decarboxylase (gad) antibodies and those diagnosed with mitochondrial disease (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes [melas]) or maturity-onset diabetes of the young (mody) were not included.
PubMedID- 22065581 We screened 18 diabetic probands with unelucidated maturity-onset diabetes of the young (mody).
PubMedID- 23761103 By using bioinformatic analysis combined with luciferase-based promoter activity assays and quantitative real-time pcr assays, we identified two maturity-onset diabetes of the young (mody) genes as direct targets of mir-24.
PubMedID- 26139844 2014), maturity-onset diabetes of the young (johansson et al.
PubMedID- 26464794 Mutations in the hnf1β gene cause maturity-onset diabetes of the young type 5 (mody5), renal cysts, genital malformations, and pancreas atrophy.

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