hepatocyte nuclear factor 1 alpha

Summary

Summary: Hepatocyte nuclear factor 1-alpha is a transcription factor found in the LIVER; PANCREAS; and KIDNEY that regulates HOMEOSTASIS of GLUCOSE.

Top Publications

  1. Cervin C, Axler O, Holmkvist J, Almgren P, Rantala E, Tuomi T, et al. An investigation of serum concentration of apoM as a potential MODY3 marker using a novel ELISA. J Intern Med. 2010;267:316-21 pubmed publisher
    ..Female carriers of the P291fsinsC mutation in HNF-1alpha displayed slightly lower apoM serum levels. This difference is too small for apoM to be reliably employed as a biomarker for HNF-1alpha mutation status. ..
  2. Servitja J, Pignatelli M, Maestro M, Cardalda C, Boj S, Lozano J, et al. Hnf1alpha (MODY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver. Mol Cell Biol. 2009;29:2945-59 pubmed publisher
  3. Pal A, Farmer A, Dudley C, Selwood M, Barrow B, Klyne R, et al. Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes. Diabetes Care. 2010;33:252-7 pubmed publisher
    ..In our dataset, serum 1,5AG performed well in discriminating GCK-MODY from other diabetes subtypes, particularly HNF1A-MODY. Measurement of 1,5AG levels could inform decisions regarding MODY diagnostic testing. ..
  4. D Angelo A, Bluteau O, Garcia Gonzalez M, Gresh L, Doyen A, Garbay S, et al. Hepatocyte nuclear factor 1alpha and beta control terminal differentiation and cell fate commitment in the gut epithelium. Development. 2010;137:1573-82 pubmed publisher
    ..Our study identifies new direct target genes of the Hnf1 transcription factors and shows that they play crucial roles in both defining cell fate and controlling terminal functions in the gut epithelium. ..
  5. Shepherd M, Shields B, Ellard S, Rubio Cabezas O, Hattersley A. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med. 2009;26:437-41 pubmed publisher
    ..Transfer to sulphonylureas was successful in the majority of patients without deterioration in glycaemic control. ..
  6. Kishnani P, Chuang T, Bali D, Koeberl D, Austin S, Weinstein D, et al. Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Hum Mol Genet. 2009;18:4781-90 pubmed publisher
    ..These results also suggest an interesting relationship between GSD Ia HCA and steps to HCC transformation. ..
  7. Li H, Dong B, Park S, Lee H, Chen W, Liu J. Hepatocyte nuclear factor 1alpha plays a critical role in PCSK9 gene transcription and regulation by the natural hypocholesterolemic compound berberine. J Biol Chem. 2009;284:28885-95 pubmed publisher
    ..This is the first described example of SREBP pairing with HNF1 to control an important regulatory pathway in cholesterol homeostasis. This work also provides a mechanism for how BBR suppresses PCSK9 transcription. ..
  8. Beijers H, Losekoot M, Odink R, Bravenboer B. Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young. Diabet Med. 2009;26:1172-4 pubmed publisher
  9. Marfil V, Moya M, Pierreux C, Castell J, Lemaigre F, Real F, et al. Interaction between Hhex and SOX13 modulates Wnt/TCF activity. J Biol Chem. 2010;285:5726-37 pubmed publisher
    ..We conclude that the interaction between Hhex and SOX13 may contribute to control Wnt/TCF signaling in the early embryo. ..

More Information

Publications62

  1. Jeannot E, Mellottee L, Bioulac Sage P, Balabaud C, Scoazec J, Tran Van Nhieu J, et al. Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage. Diabetes. 2010;59:1836-44 pubmed publisher
    ..H-HCA showed mutations profoundly inactivating hepatocyte nuclear factor-1alpha function; they are associated with a genotoxic signature suggesting a specific toxicant exposure that could be associated with genetic predisposition. ..
  2. Radha V, Ek J, Anuradha S, Hansen T, Pedersen O, Mohan V. Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young. J Clin Endocrinol Metab. 2009;94:1959-65 pubmed publisher
    ..This study suggests that mutations in the HNF1A gene comprise about 9% of clinically diagnosed MODY subjects in southern India and a novel Arg263His mutation cosegregates with MODY in one family. ..
  3. Jones K. The "other" forms of diabetes in children. Adolesc Med State Art Rev. 2010;21:120-8, x pubmed
    ..The goal of this chapter is to discuss, very briefly, the other classes of diabetes which occur in children and are of importance to physicians caring for adolescents. ..
  4. Bonner C, Bacon S, Concannon C, Rizvi S, Baquie M, Farrelly A, et al. INS-1 cells undergoing caspase-dependent apoptosis enhance the regenerative capacity of neighboring cells. Diabetes. 2010;59:2799-808 pubmed publisher
    ..Our results suggest that apoptosing INS-1 cells shed microparticles that may stimulate PSP/reg induction in neighboring cells, a mechanism that may facilitate the recovery of ?-cell mass in HNF1A-MODY. ..
  5. Klein K, Jüngst C, Mwinyi J, Stieger B, Krempler F, Patsch W, et al. The human organic anion transporter genes OAT5 and OAT7 are transactivated by hepatocyte nuclear factor-1? (HNF-1?). Mol Pharmacol. 2010;78:1079-87 pubmed publisher
    ..134, P < 0.05) or OAT7 (r = 0.461, P < 0.001) mRNA expression levels in surgical liver biopsies from 75 patients further supported an important role of HNF-1? in the regulation of OAT gene expression. ..
  6. Boj S, Servitja J, Martin D, Rios M, Talianidis I, Guigo R, et al. Functional targets of the monogenic diabetes transcription factors HNF-1alpha and HNF-4alpha are highly conserved between mice and humans. Diabetes. 2009;58:1245-53 pubmed publisher
    ..Despite evolutionary changes in binding, essential direct transcriptional functions of HNF-1alpha and -4alpha are largely conserved between mice and humans. ..
  7. Rho H, Jones C, Rose R. Kinetic stability may determine the interaction dynamics of the bifunctional protein DCoH1, the dimerization cofactor of the transcription factor HNF-1? . Biochemistry. 2010;49:10187-97 pubmed publisher
    ..We propose an unfolding pathway in which the tetramer unfolds slowly, but the dimer folds reversibly. Implications for regulation of DCoH1/HNF-1? complex formation are discussed. ..
  8. Kikuchi R, Yagi S, Kusuhara H, Imai S, Sugiyama Y, Shiota K. Genome-wide analysis of epigenetic signatures for kidney-specific transporters. Kidney Int. 2010;78:569-77 pubmed publisher
  9. Voight B, Scott L, Steinthorsdottir V, Morris A, Dina C, Welch R, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet. 2010;42:579-89 pubmed publisher
    ..We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits. ..
  10. Katra B, Klupa T, Skupien J, Szopa M, Nowak N, Borowiec M, et al. Dipeptidyl peptidase-IV inhibitors are efficient adjunct therapy in HNF1A maturity-onset diabetes of the young patients--report of two cases. Diabetes Technol Ther. 2010;12:313-6 pubmed publisher
    ..8 and13.4 mIU/L in Case 1 and Case 2, respectively). DPP-IV inhibitors may be an effective tool of combined therapy in HNF1A MODY, and they seem to improve beta-cell function under fasting conditions. ..
  11. Donelan W, Koya V, Li S, Yang L. Distinct regulation of hepatic nuclear factor 1alpha by NKX6.1 in pancreatic beta cells. J Biol Chem. 2010;285:12181-9 pubmed publisher
    ..We conclude that NKX6.1 is a novel regulator of HNF1alpha in pancreatic beta cells. This novel regulatory mechanism for HNF1alpha in beta cells may provide new molecular targets for the diagnosis of MODY3. ..
  12. Gragnoli C. PSMD9 is linked to MODY3. J Cell Physiol. 2010;223:1-5 pubmed publisher
    ..All MODY3 families should be tested for the PSMD9 A/T/G haplotype. The potential clinical impact of our study is of relevance. ..
  13. Dong B, Wu M, Li H, Kraemer F, Adeli K, Seidah N, et al. Strong induction of PCSK9 gene expression through HNF1alpha and SREBP2: mechanism for the resistance to LDL-cholesterol lowering effect of statins in dyslipidemic hamsters. J Lipid Res. 2010;51:1486-95 pubmed publisher
    ..binding protein 2 (SREBP2) expression, rosuvastatin treatment increased the liver expression of hepatocyte nuclear factor 1 alpha (HNF1alpha), the newly identified key transactivator for PCSK9 gene expression...
  14. Fujimori S, Novak H, Weissenböck M, Jussila M, Gonçalves A, Zeller R, et al. Wnt/?-catenin signaling in the dental mesenchyme regulates incisor development by regulating Bmp4. Dev Biol. 2010;348:97-106 pubmed publisher
    ..This provides a mechanism whereby the number of incisors arising from one placode can be varied through local alterations of a mesenchymal signaling circuit involving ?-catenin, Lef1, Tcf1 and Bmp4. ..
  15. Uchizono Y, Baldwin A, Sakuma H, Pugh W, Polonsky K, Hara M. Role of HNF-1alpha in regulating the expression of genes involved in cellular growth and proliferation in pancreatic beta-cells. Diabetes Res Clin Pract. 2009;84:19-26 pubmed publisher
    ..These results provide insights into the mechanisms whereby HNF-1alpha affects beta-cell function. ..
  16. Malakauskas S, Kourany W, Zhang X, Lu D, Stevens R, Koves T, et al. Increased insulin sensitivity in mice lacking collectrin, a downstream target of HNF-1alpha. Mol Endocrinol. 2009;23:881-92 pubmed publisher
    ..5 yr of age. Our studies suggest that collectrin-deficient mice activate a number of adaptive mechanisms to defend energy homeostasis in the setting of ongoing nutrient losses. ..
  17. Pongratz R, Kibbey R, Kirkpatrick C, Zhao X, Pontoglio M, Yaniv M, et al. Mitochondrial dysfunction contributes to impaired insulin secretion in INS-1 cells with dominant-negative mutations of HNF-1alpha and in HNF-1alpha-deficient islets. J Biol Chem. 2009;284:16808-21 pubmed publisher
  18. Tamagawa T, Ishiwata I, Sato K, Nakamura Y. Induced in vitro differentiation of pancreatic-like cells from human amnion-derived fibroblast-like cells. Hum Cell. 2009;22:55-63 pubmed publisher
  19. Owen K, Skupien J, Malecki M. The clinical application of non-genetic biomarkers for differential diagnosis of monogenic diabetes. Diabetes Res Clin Pract. 2009;86 Suppl 1:S15-21 pubmed publisher
    ..This review summarizes recent advances in the search for putative biomarkers and the perspectives of the future progress. ..
  20. Yu H, Yu M, Li C, Zhan Y, Xu W, Li Y, et al. Specific expression and regulation of hepassocin in the liver and down-regulation of the correlation of HNF1alpha with decreased levels of hepassocin in human hepatocellular carcinoma. J Biol Chem. 2009;284:13335-47 pubmed publisher
    ..These results demonstrate that the HNF1 binding site and HNF1alpha are critical to liver-specific expression of HPS, and down-regulation or loss of HNF1alpha causes, at least in part, the transcriptional down-regulation of HPS in HCC. ..
  21. Kooptiwut S, Sujjitjoon J, Plengvidhya N, Boonyasrisawat W, Chongjaroen N, Jungtrakoon P, et al. Functional defect of truncated hepatocyte nuclear factor-1alpha (G554fsX556) associated with maturity-onset diabetes of the young. Biochem Biophys Res Commun. 2009;383:68-72 pubmed publisher
    ..These results suggested that the functional defect of novel truncated HNF-1alpha (G554fsX556) on the transactivation of its target-gene promoters would account for the beta-cell dysfunction associated with the pathogenesis of MODY. ..
  22. Umeyama K, Watanabe M, Saito H, Kurome M, Tohi S, Matsunari H, et al. Dominant-negative mutant hepatocyte nuclear factor 1alpha induces diabetes in transgenic-cloned pigs. Transgenic Res. 2009;18:697-706 pubmed publisher
    ..Histochemical analysis of pancreas tissue from the cloned pigs showed small and irregularly formed Langerhans Islets, in which poor insulin secretion was detected. ..
  23. Steele A, Shields B, Shepherd M, Ellard S, Hattersley A, Pearson E. Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. Diabet Med. 2010;27:157-61 pubmed publisher
    ..As with other forms of diabetes, consideration should be given to early statin therapy despite a seemingly protective lipid profile. ..
  24. Giuffrida F, Furuzawa G, Kasamatsu T, Oliveira M, Reis A, Dib S. HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study. Cardiovasc Diabetol. 2009;8:28 pubmed publisher
    ..These data contribute to the understanding of the complex interactions between genes, hyperglycemia and cardiovascular risk factors development in type 2 diabetes mellitus. ..
  25. Pinés Corrales P, López Garrido M, Aznar Rodríguez S, Louhibi Rubio L, López Jiménez L, Lamas Oliveira C, et al. Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1alpha gene. Endocrinol Nutr. 2010;57:4-8 pubmed publisher
    ..05). Occasional difficulties may be encountered when classifying patients with MODY-2, MODY-3 or type 2 diabetes of atypical characteristics, in this case patients who present I27L polymorphism in the HNF1alpha gene. ..
  26. Owen K, Thanabalasingham G, James T, Karpe F, Farmer A, McCarthy M, et al. Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diabetes Care. 2010;33:1919-24 pubmed publisher
    ..Serum hs-CRP levels are markedly lower in HNF1A-MODY than in other forms of diabetes. hs-CRP has potential as a widely available, cost-effective screening test to support more precise targeting of MODY diagnostic testing. ..
  27. Marioni R, Deary I, Murray G, Fowkes F, Price J. Associations between polymorphisms in five inflammation-related genes and cognitive ability in older persons. Genes Brain Behav. 2010;9:348-52 pubmed publisher
    ..048). There is little evidence to suggest an association between SNPs in the inflammation-related genes IL-1alpha, IL-1beta, IL-6, TCF-1 and F13A1 and cognition in an elderly population of community-dwelling Scottish citizens. ..
  28. Li Y, Buckley D, Wang S, Klaassen C, Zhong X. Genetic polymorphisms in the TATA box and upstream phenobarbital-responsive enhancer module of the UGT1A1 promoter have combined effects on UDP-glucuronosyltransferase 1A1 transcription mediated by constitutive androstane receptor, pregnane X recepto. Drug Metab Dispos. 2009;37:1978-86 pubmed publisher
    ..In conclusion, the combined genotypes containing A(TA)(7)TAA and -3279G decrease UGT1A transcription mediated by CAR, PXR, or GR but not by HNF1 alpha or HNF4 alpha. ..
  29. Lussier C, Brial F, Roy S, Langlois M, Verdu E, Rivard N, et al. Loss of hepatocyte-nuclear-factor-1alpha impacts on adult mouse intestinal epithelial cell growth and cell lineages differentiation. PLoS ONE. 2010;5:e12378 pubmed publisher
    ..Together, these results unravel a functional role for Hnf1alpha in regulating adult intestinal growth and sustaining the functions of intestinal epithelial cell lineages. ..
  30. Schober E, Rami B, Grabert M, Thon A, Kapellen T, Reinehr T, et al. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with Type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database. Diabet Med. 2009;26:466-73 pubmed publisher
    ..The prevalence of MODY in children and adolescents in Germany and Austria is lower than that of T2DM in this age group. Dyslipidaemia and hypertension are less frequent in MODY compared with T2DM patients, but do occur. ..
  31. Chen Y, Zhou H, Sarver A, Zeng Y, Roy Chowdhury J, Steer C, et al. Hepatic differentiation of liver-derived progenitor cells and their characterization by microRNA analysis. Liver Transpl. 2010;16:1086-97 pubmed publisher
    ..LDPCs showed that more than 50% of the cells were positive for albumin, cytokeratin 18, and hepatocyte nuclear factor 1 alpha and contained glycogen particles, all consistent with differentiation to functional hepatocytes...
  32. Benoit Y, Paré F, Francoeur C, Jean D, Tremblay E, Boudreau F, et al. Cooperation between HNF-1alpha, Cdx2, and GATA-4 in initiating an enterocytic differentiation program in a normal human intestinal epithelial progenitor cell line. Am J Physiol Gastrointest Liver Physiol. 2010;298:G504-17 pubmed publisher
    ..These observations show that, in cooperation with Cdx2, HNF-1alpha acts as a key factor on human intestinal cells to trigger the onset of their functional differentiation program whereas GATA-4 appears to promote morphological changes. ..
  33. Reiner A, Gross M, Carlson C, Bielinski S, Lange L, Fornage M, et al. Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiova. Circ Cardiovasc Genet. 2009;2:244-54 pubmed publisher
    ..Common polymorphisms of HNF1A seem to influence multiple phenotypes related to cardiovascular risk in the general population of younger and older EA adults. ..
  34. Freitas H, Schaan B, David Silva A, Sabino Silva R, Okamoto M, Alves Wagner A, et al. SLC2A2 gene expression in kidney of diabetic rats is regulated by HNF-1alpha and HNF-3beta. Mol Cell Endocrinol. 2009;305:63-70 pubmed publisher
    ..Furthermore, recovery of SLC2A2 gene after 6-day insulin treatment also involves HNF-1alpha and HNF-3beta activity. ..
  35. Ehmer U, Kalthoff S, Lankisch T, Freiberg N, Manns M, Strassburg C. Shared regulation of UGT1A7 by hepatocyte nuclear factor (HNF) 1alpha and HNF4alpha. Drug Metab Dispos. 2010;38:1246-57 pubmed publisher
    ..Therefore, a specific role of HNF in the transcriptional control of UGT1A7 is shown and characterized, which may contribute to its tissue specificity and function. ..
  36. Pramfalk C, Jiang Z, Cai Q, Hu H, Zhang S, Han T, et al. HNF1alpha and SREBP2 are important regulators of NPC1L1 in human liver. J Lipid Res. 2010;51:1354-62 pubmed publisher
    ..ChIP assays confirmed that HNF1alpha can bind to the NPC1L1 promoter in vivo. ..
  37. Ley S, Hegele R, Connelly P, Harris S, Mamakeesick M, Cao H, et al. Assessing the association of the HNF1A G319S variant with C-reactive protein in Aboriginal Canadians: a population-based epidemiological study. Cardiovasc Diabetol. 2010;9:39 pubmed publisher
  38. Jafar Mohammadi B, Groves C, Owen K, Frayling T, Hattersley A, McCarthy M, et al. Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes. PLoS ONE. 2009;4:e6615 pubmed publisher
    ..Nevertheless, the rationale for seeking low-frequency causal variants in genes known to contain rare, penetrant mutations remains strong and should motivate efforts to screen other genes in a similar fashion. ..
  39. Harries L, Brown J, Gloyn A. Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes. PLoS ONE. 2009;4:e7855 pubmed publisher
    ..We conclude that alterations to expression of HNF isoforms may underlie some of the phenotypic variation caused by mutations in these genes. ..
  40. Kleber M, Grammer T, Renner W, März W. Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study). BMC Med Genet. 2010;11:157 pubmed publisher
    ..In the LURIC Study cohort the A-allele of rs2259816 is associated with decreased CRP but not with coronary artery disease. ..
  41. Vendrell V, Summerhurst K, Sharpe J, Davidson D, Murphy P. Gene expression analysis of canonical Wnt pathway transcriptional regulators during early morphogenesis of the facial region in the mouse embryo. Gene Expr Patterns. 2009;9:296-305 pubmed publisher
  42. Xu H, He J, Xiao Z, Zhang Q, Chen Y, Zhou H, et al. Liver-enriched transcription factors regulate microRNA-122 that targets CUTL1 during liver development. Hepatology. 2010;52:1431-42 pubmed publisher
    ..Our study provides a model in which miR-122 functions as an effector of LETFs and contributes to liver development by regulating the balance between proliferation and differentiation of hepatocytes, at least by targeting CUTL1. ..
  43. Plengvidhya N, Boonyasrisawat W, Chongjaroen N, Jungtrakoon P, Sriussadaporn S, Vannaseang S, et al. Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. Clin Endocrinol (Oxf). 2009;70:847-53 pubmed publisher
    ..Mutations of the six known MODY genes may not be a major cause of MODY and early-onset type 2 diabetes in Thais. Therefore, unidentified genes await discovery in a majority of Thai patients with MODY and early-onset type 2 diabetes. ..
  44. Codner E, Rocha A, Deng L, Martinez Aguayo A, Godoy C, Mericq V, et al. Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. Pediatr Diabetes. 2009;10:382-8 pubmed publisher
    ..Glucokinase gene (GCK) and hepatocyte nuclear factor 1 alpha gene (HNF1A) causing two common forms of MODY were sequenced...
  45. Bazalová Z, Rypackova B, Broz J, Brunerova L, Polak J, Rusavy Z, et al. Three novel mutations in MODY and its phenotype in three different Czech families. Diabetes Res Clin Pract. 2010;88:132-8 pubmed publisher
    ..We describe three novel MODY mutations in three Czech families. The identification of MODY mutations had a meaningful impact on therapy on the mutation carriers. ..
  46. Bioulac Sage P, Laumonier H, Couchy G, Le Bail B, Sa Cunha A, Rullier A, et al. Hepatocellular adenoma management and phenotypic classification: the Bordeaux experience. Hepatology. 2009;50:481-9 pubmed publisher
    ..As a consequence, we believe that management of HCA needs to be adapted to the phenotype of these tumors. ..
  47. Pelletier L, Rebouissou S, Paris A, Rathahao Paris E, Perdu E, Bioulac Sage P, et al. Loss of hepatocyte nuclear factor 1alpha function in human hepatocellular adenomas leads to aberrant activation of signaling pathways involved in tumorigenesis. Hepatology. 2010;51:557-66 pubmed publisher
    ..Interestingly, mTOR appears as a potential new attractive therapeutic target for treatment of this group of HCAs. ..
  48. Hösel M, Quasdorff M, Wiegmann K, Webb D, Zedler U, Broxtermann M, et al. Not interferon, but interleukin-6 controls early gene expression in hepatitis B virus infection. Hepatology. 2009;50:1773-82 pubmed publisher
    ..Our data also indicate that therapeutic neutralization of IL-6 for treatment of certain diseases may represent a risk if the patient is HBV-infected. ..
  49. Matsunaga N. [Dosing time based on molecular mechanism of biological clock of hepatic drug metabolic enzyme]. Yakugaku Zasshi. 2009;129:1357-65 pubmed
    ..24-h rhythm of CYP2E1 activity was controlled by HNF-1alpha and clock gene, in a transcriptional level. Identification of rhythmic marker for selecting dosing time will lead improved progress and diffusion of chronopharmacotherapy. ..
  50. Lango Allen H, Johansson S, Ellard S, Shields B, Hertel J, Raeder H, et al. Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes. 2010;59:266-71 pubmed publisher
    ..This is one of the first studies to demonstrate that clinical characteristics of a monogenic disease can be modified by common polygenic variants. ..
  51. Boj S, Petrov D, Ferrer J. Epistasis of transcriptomes reveals synergism between transcriptional activators Hnf1alpha and Hnf4alpha. PLoS Genet. 2010;6:e1000970 pubmed publisher
    ..These findings provide an in vivo strategy to study combinatorial gene regulation and reveal how Hnf1alpha and Hnf4alpha control a common islet-cell regulatory program that is defective in human monogenic diabetes. ..
  52. Lorini R, Klersy C, D Annunzio G, Massa O, Minuto N, Iafusco D, et al. Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Diabetes Care. 2009;32:1864-6 pubmed publisher
    ..GCK mutations are the prevailing cause of MODY (63.4%) when the index case is recruited in Italian children with incidental hyperglycemia. ..
  53. McCarthy V, Ott C, Phylactides M, Harris A. Interaction of intestinal and pancreatic transcription factors in the regulation of CFTR gene expression. Biochim Biophys Acta. 2009;1789:709-18 pubmed publisher
    ..These data contribute to our understanding of the complexity of cell-type-specific CFTR regulatory mechanisms. ..