Maturity onset diabetes of the young due to HNF1A variants in Croatia

Maturity onset diabetes of the young due to HNF1A variants in Croatia

<h4>Introduction</h4> <p>Maturity onset diabetes of the young due to HNF1A mutations (HNF1A-MODY) is the most frequent form of monogenic diabetes in adults. It is often misdiagnosed as type 1 or type 2 diabetes, but establishing genetic diagnosis is important, as treatment differs...

書誌詳細
主要な著者:	Pavić, T, Juszczak, A, Pape Medvidović, E, Burrows, C, Šekerija, M, Bennett, A, Ćuća Knežević, J, Gloyn, A, Lauc, G, McCarthy, M, Gornik, O, Owen, K
フォーマット:	Journal article
言語:	English
出版事項:	Croatian Society of Medical Biochemistry and Laboratory Medicine 2018

類似資料

Plasma fucosylated glycans and C-reactive protein as biomarkers of HNF1A-MODY in young adult–onset nonautoimmune diabetes
著者:: Juszczak, A, 等
出版事項: (2018)

Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations.
著者:: Owen, K, 等
出版事項: (2010)

Assessment and translation of novel biomarkers for diagnosis of maturity onset diabetes of the young due to HNF1A variants
著者:: Juszczak, A
出版事項: (2018)

Identification and assessment of glycan profiles as a biomarker for maturity onset diabetes of the young (MODY) due to hepatocyte nuclear factor 1 alpha (HNF1A) mutations
著者:: Gloyn, A, 等
出版事項: (2011)

Use of high sensitivity C-reactive protein and DG9-glycan index for differential diagnosis of maturity-onset diabetes of the young due to HNF1A mutations in young adults
著者:: Mughal, SA, 等
出版事項: (2013)

Altered cortisol metabolism in individuals with HNF1A-MODY
著者:: Juszczak, A, 等
出版事項: (2020)

Homozygous hypomorphic HNF1A alleles are a novel cause of young-onset diabetes and result in sulphonylurea sensitive diabetes
著者:: Misra, S, 等
出版事項: (2020)

Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.
著者:: Harries, L, 等
出版事項: (2009)

Evaluation of high sensitivity C-reactive protein as a screening tool for detecting young South Asians with maturity-onset diabetes of the young due to HNF1A mutations
著者:: Mughal, SA, 等
出版事項: (2013)

The role of the HNF4alpha enhancer in type 2 diabetes.
著者:: Mitchell, S, 等
出版事項: (2002)

The role of the HNF4α enhancer in type 2 diabetes variants of the HNF4α enhancer are not a common cause of susceptibility to type 2 diabetes
著者:: Mitchell, S, 等
出版事項: (2002)

Epigenetic silencing of HNF1A associates with changes in the composition of the human plasma N-glycome.
著者:: Zoldoš, V, 等
出版事項: (2012)

Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.
著者:: Lorna W Harries, 等
出版事項: (2009-11-01)

Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young
著者:: Daisuke Watanabe, 等
出版事項: (2024-08-01)

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to Type 2 diabetes
著者:: Jafar-Mohammadi, B, 等
出版事項: (2009)

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.
著者:: Jafar-Mohammadi, B, 等
出版事項: (2009)

Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes.
著者:: Mughal, SA, 等
出版事項: (2013)

Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers.
著者:: Gloyn, A, 等
出版事項: (2012)

Role of low frequency variants in HNF1A exons 8-10 encoding hepatocyte nuclear factor-1 alpha isoform A to susceptibility to Type 2 diabetes
著者:: Jafar-Mohammadi, B, 等
出版事項: (2010)

No attenuation of CRP response to acute inflammation is seen in HNF1A-MODY
著者:: Owen, K, 等
出版事項: (2013)

Assessment of the pathogenicity of the previously reported D526N Hepatocyte Nuclear factor-1 alpha (HNF1A) variant using a combined genetic, in silico and functional approach
著者:: Hassanali, N, 等
出版事項: (2013)

New HNF-1α nonsense mutation causes maturity-onset diabetes of the young type 3
著者:: Viviane Nogaroto, 等
出版事項: (2011-01-01)

New HNF-1α nonsense mutation causes maturity-onset diabetes of the young type 3
著者:: Viviane Nogaroto, 等
出版事項: (2011-01-01)

Extending criteria for genetic testing increases diagnosis of maturity-onset diabetes of the young
著者:: Thanabalasingham, G, 等
出版事項: (2010)

Comparison of 2-Aminobenzamide, Procainamide and RapiFluor-MS as Derivatizing Agents for High-Throughput HILIC-UPLC-FLR-MS N-glycan Analysis
著者:: Toma Keser, 等
出版事項: (2018-07-01)

Early Onset of Mody5 Due to Haploinsufficiency of HNF1B
著者:: Carmen Bustamante, MD, 等
出版事項: (2020-09-01)

Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center
著者:: Sara Amaral, 等
出版事項: (2023-02-01)

Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY)
著者:: Megha Verma, 等
出版事項: (2022-04-01)

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
著者:: McDonald, T, 等
出版事項: (2011)

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
著者:: McDonald, T, 等
出版事項: (2011)

Report of Prolonged Neonatal Hypoglycemia in Three Infants of Mothers With HNF1A Maturity-Onset Diabetes of the Youth
著者:: Sara Jane Cromer, MD, 等
出版事項: (2022-09-01)

GAD‐65 antibodies in a case of HNF1A‐Maturity‐Onset Diabetes of the Young: Double diabetes?
著者:: Åke Sjöholm
出版事項: (2021-06-01)

Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers.
著者:: Anna L Gloyn, 等
出版事項: (2012-01-01)

Large-scale type 2 diabetes association analysis of low-frequency nonsynonymous coding variants in the HNF4A gene including up to 17,600 individuals
著者:: Mohammadi, B, 等
出版事項: (2008)

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.
著者:: Gloyn, A, 等
出版事項: (2002)

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.
著者:: Bahram Jafar-Mohammadi, 等
出版事項: (2009-08-01)

HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey
著者:: Selvihan Beysel, 等
出版事項: (2019-05-01)

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
著者:: Gloyn, A
出版事項: (2003)

A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young
著者:: Sezer Acar, 等
出版事項: (2018-09-01)

De novo HNF1A mutation of young maturity-onset diabetes 3 of a young girl—Case report
著者:: Haoran Peng, 等
出版事項: (2023-02-01)