453 related articles for article (PubMed ID: 12378390)
41. GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).
Cao H; Shorey S; Robinson J; Metzger DL; Stewart L; Cummings E; Hegele RA
Hum Mutat; 2002 Dec; 20(6):478-9. PubMed ID: 12442280
[TBL] [Abstract][Full Text] [Related]
42. Hepatocyte nuclear factor-4 alpha gene mutations in Japanese non-insulin dependent diabetes mellitus (NIDDM) patients.
Nakajima H; Yoshiuchi I; Hamaguchi T; Tomita K; Yamasaki T; Iizuka K; Okita K; Moriwaki M; Ono A; Oue T; Horikawa Y; Shingu R; Miyagawa J; Namba M; Hanafusa T; Matsuzawa Y
Res Commun Mol Pathol Pharmacol; 1996 Dec; 94(3):327-30. PubMed ID: 9029679
[TBL] [Abstract][Full Text] [Related]
43. Identification and functional analysis of mutations in the hepatocyte nuclear factor-1alpha gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes.
Kawasaki E; Sera Y; Yamakawa K; Abe T; Ozaki M; Uotani S; Ohtsu N; Takino H; Yamasaki H; Yamaguchi Y; Matsuura N; Eguchi K
J Clin Endocrinol Metab; 2000 Jan; 85(1):331-5. PubMed ID: 10634407
[TBL] [Abstract][Full Text] [Related]
44. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP
Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
[TBL] [Abstract][Full Text] [Related]
45. Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.
Kitanaka S; Miki Y; Hayashi Y; Igarashi T
J Clin Endocrinol Metab; 2004 Mar; 89(3):1369-78. PubMed ID: 15001636
[TBL] [Abstract][Full Text] [Related]
46. Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).
Toaima D; Näke A; Wendenburg J; Praedicow K; Rohayem J; Engel K; Galler A; Gahr M; Lee-Kirsch MA
Hum Mutat; 2005 May; 25(5):503-4. PubMed ID: 15841481
[TBL] [Abstract][Full Text] [Related]
47. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
Hum Mutat; 1999; 14(5):359-68. PubMed ID: 10533061
[TBL] [Abstract][Full Text] [Related]
48. Nuclear factors and type 2 diabetes.
Froguel P
Schweiz Med Wochenschr; 1998 Dec; 128(49):1936-9. PubMed ID: 9887471
[TBL] [Abstract][Full Text] [Related]
49. [High sensitivity to sulphonylurea treatment in 2 patients with maturity-onset diabetes of the young type 3].
Bosselaar M; Hattersley AT; Tack CJ
Ned Tijdschr Geneeskd; 2002 Apr; 146(15):726-9. PubMed ID: 11980375
[TBL] [Abstract][Full Text] [Related]
50. Mechanisms of mutual functional interactions between HNF-4alpha and HNF-1alpha revealed by mutations that cause maturity onset diabetes of the young.
Rowley CW; Staloch LJ; Divine JK; McCaul SP; Simon TC
Am J Physiol Gastrointest Liver Physiol; 2006 Mar; 290(3):G466-75. PubMed ID: 16223942
[TBL] [Abstract][Full Text] [Related]
51. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
[TBL] [Abstract][Full Text] [Related]
52. Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha and the abnormality of HNF-1beta mutants.
Kitanaka S; Sato U; Igarashi T
J Endocrinol; 2007 Jan; 192(1):141-7. PubMed ID: 17210751
[TBL] [Abstract][Full Text] [Related]
53. Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene.
Cervin C; Orho-Melander M; Ridderstråle M; Lehto M; Barg S; Groop L; Cilio CM
Diabetologia; 2002 Dec; 45(12):1703-8. PubMed ID: 12488960
[TBL] [Abstract][Full Text] [Related]
54. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.
Gragnoli C; Lindner T; Cockburn BN; Kaisaki PJ; Gragnoli F; Marozzi G; Bell GI
Diabetes; 1997 Oct; 46(10):1648-51. PubMed ID: 9313764
[TBL] [Abstract][Full Text] [Related]
55. Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis.
Xu JY; Chan V; Zhang WY; Wat NM; Lam KS
Diabetologia; 2002 May; 45(5):744-6. PubMed ID: 12107757
[TBL] [Abstract][Full Text] [Related]
56. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
57. Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.
Miedzybrodzka Z; Hattersley AT; Ellard S; Pearson D; de Silva D; Harvey R; Haites N
Eur J Hum Genet; 1999 Sep; 7(6):729-32. PubMed ID: 10482964
[TBL] [Abstract][Full Text] [Related]
58. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I; Rica I; Perez de Nanclares G; Bilbao JR; Vazquez JA; San Pedro JI; Busturia MA; Castaño L;
Clin Endocrinol (Oxf); 2007 Oct; 67(4):538-46. PubMed ID: 17573900
[TBL] [Abstract][Full Text] [Related]
59. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
[TBL] [Abstract][Full Text] [Related]
60. Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.
Cappelli A; Tumini S; Consoli A; Carinci S; Piersanti C; Ruggiero G; Simonella G; Soletti F; Staffolani P; Pianese L
Diabetes Res Clin Pract; 2009 Mar; 83(3):e72-4. PubMed ID: 19150152
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]