Novel mutations and a mutational hotspot in the MODY3 gene.
about
Pancreatic Cancer GeneticsEpidemiology and Inherited Predisposition for Sporadic Pancreatic AdenocarcinomaDetermining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic beta-cell line.Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancerMolecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction.Diabetes and pancreatic cancer.Diabetes-associated mutations in a beta-cell transcription factor destabilize an antiparallel "mini-zipper" in a dimerization interface.Diabetic ketoacidosis in the setting of HNF1A-maturity onset diabetes of the youngClinical features and treatment of maturity onset diabetes of the young (MODY).Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approachHepatocyte nuclear factor 1-alpha mutation in normal glucose-tolerant subjects and early-onset type 2 diabetic patients.Genetic diagnosis and treatment of a Chinese ketosis-prone MODY 3 family with depression.Transcription factor-dependent regulation of CBP and P/CAF histone acetyltransferase activity.Predictive genetic testing in maturity-onset diabetes of the young (MODY).Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients.Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics.Alterations in bile acid synthesis in carriers of hepatocyte nuclear factor 1α mutations.De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
P2860
Q26765235-63F0757D-9F6C-4B93-BC15-21E94F7A8134Q26801418-09CEFF24-75AF-4D3F-B2A3-5246794B7CD8Q30401074-9DA1CBC5-3F0F-43F5-AE69-03A82A54F9CCQ33890050-D238EFB1-CC76-43D9-86C8-6522FFD04D6FQ34073763-01C35581-D698-4ABE-8F0B-A35320E004B9Q34241383-D0CF47F3-CCAD-4F45-A14D-D49D52428AA7Q34486684-EC4CABAA-A2D1-4B19-848C-48344F9361D7Q34634263-27B50A0E-3236-46E3-81D3-CC8511A2E78CQ35046351-EA879C89-B2D1-44C5-8FDE-89F897EEFDC5Q35467563-B802D3E3-517A-42C1-9B18-7F6BF9E3E7BAQ35997281-2CC26BE6-7056-4AEE-9F97-214A6A2343B5Q36588444-BCA04DC5-1A74-485C-B692-F399124E219EQ37205422-53279235-F396-47BB-9781-083FFDC717B7Q37589038-DA87CBA2-3E1A-49A1-90B9-D4B1DB873251Q39644401-031187EC-866D-487A-A60F-CF494ECB1715Q40695057-30DC86BE-D1E7-4CFB-BC4F-01E646A31215Q40903586-A5F5A1CA-2DB2-482E-8E08-FBEBBB474082Q44122841-FBAF9DF2-6B38-4C70-83E4-8642FB2BC1A8Q44839903-471E33B9-5F0E-490E-88B6-42DA8E128E0CQ46814521-045C2EDE-95D6-46E7-818D-795EB204D45FQ48267278-8AE053C8-E4D4-4230-B933-F1F199C3E77BQ51287966-C7F1A163-CAD4-4325-8210-A23C909D5D16Q54973025-D77B0FB1-9047-4807-B473-C668021D3905
P2860
Novel mutations and a mutational hotspot in the MODY3 gene.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Novel mutations and a mutational hotspot in the MODY3 gene.
@en
type
label
Novel mutations and a mutational hotspot in the MODY3 gene.
@en
prefLabel
Novel mutations and a mutational hotspot in the MODY3 gene.
@en
P2093
P356
P1433
P1476
Novel mutations and a mutational hotspot in the MODY3 gene.
@en
P2093
Berkemeier L
Carlsson M
Forsblom CM
Glucksmann MA
Goranson J
P304
P356
10.2337/DIAB.46.6.1081
P407
P577
1997-06-01T00:00:00Z