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Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes

PloS one, 2024-04, Vol.19 (4), p.e0300350-e0300350

2024

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Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

Diabetes (New York, N.Y.), 2017-02, Vol.66 (2), p.335-346

2017

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Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

Nature genetics, 2006-01, Vol.38 (1), p.54-62

2006

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The Composite Autonomic Symptom Score 31 Questionnaire: A Sensitive Test to Detect Risk for Autonomic Neuropathy

Journal of diabetes research, 2023, Vol.2023, p.1-9

2023

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Structural properties of the HNF-1A transactivation domain

Frontiers in molecular biosciences, 2023-10, Vol.10, p.1249939-1249939

2023

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Subtype-Specific Surface Proteins on Adipose Tissue Macrophages and Their Association to Obesity-Induced Insulin Resistance

Frontiers in endocrinology (Lausanne), 2022-04, Vol.13, p.856530-856530

2022

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Clinical and genetic characteristics of congenital hyperinsulinism in Norway: A nationwide cohort study

The journal of clinical endocrinology and metabolism, 2024-07

2024

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1658-P: Rectal Hyposensitivity, a Potential Marker of Enteric Autonomic Nerve Dysfunction, Is Significantly Associated with Gastrointestinally Mediated Glucose Disposal in Persons with Type 2 Diabetes

Diabetes (New York, N.Y.), 2023-06, Vol.72 (Supplement_1), p.1

2023

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Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2010-10, Vol.10 (4), p.467-476

2010

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Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants

The Journal of biological chemistry, 2022-04, Vol.298 (4), p.101803-101803, Article 101803

2022

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Extending protein interaction networks using proteoforms and small molecules

Bioinformatics (Oxford, England), 2023-10, Vol.39 (10)

2023

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DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

European journal of pediatrics, 2010-02, Vol.169 (2), p.207-213

2010

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Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young

Diabetes research and clinical practice, 2022-03, Vol.185, p.109226-109226, Article 109226

2022

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Congenital hyperinsulinism

Tidsskrift for den Norske Lægeforening, 2023-12

2023

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Beta-Cell SCHAD Deficiency Causes Hypoglycemia in Mice

Diabetes (New York, N.Y.), 2018-07, Vol.67 (Supplement_1)

2018

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Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations

Pancreas, 2013-10, Vol.42 (7), p.1078-1084

2013

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Studies in 3,523 Norwegians and Meta-Analysis in 11,571 Subjects Indicate That Variants in the Hepatocyte Nuclear Factor 4α (HNF4A) P2 Region Are Associated With Type 2 Diabetes in Scandinavians

Diabetes (New York, N.Y.), 2007-12, Vol.56 (12), p.3112-3117

2007

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Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis

PLoS medicine, 2015-08, Vol.12 (8), p.e1001865-e1001865

2015

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Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth

Nature communications, 2019-10, Vol.10 (1), p.4448-10, Article 4448

2019

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SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

American journal of human genetics, 2013-07, Vol.93 (1), p.150-157

2013

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Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders

Psychological medicine, 2023-04, Vol.53 (5), p.1750-1758

2023

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Maturity onset diabetes of the young type 2 (MODY2): Insight from an extended family

Diabetes research and clinical practice, 2021-05, Vol.175, p.108791, Article 108791

2021

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An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide

Acta diabetologica, 2013-10, Vol.50 (5), p.801-805

2013

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Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

The Composite Autonomic Symptom Score 31 Questionnaire: A Sensitive Test to Detect Risk for Autonomic Neuropathy

Structural properties of the HNF-1A transactivation domain

Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis

Subtype-Specific Surface Proteins on Adipose Tissue Macrophages and Their Association to Obesity-Induced Insulin Resistance

Clinical and genetic characteristics of congenital hyperinsulinism in Norway: A nationwide cohort study

1658-P: Rectal Hyposensitivity, a Potential Marker of Enteric Autonomic Nerve Dysfunction, Is Significantly Associated with Gastrointestinally Mediated Glucose Disposal in Persons with Type 2 Diabetes

Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice

Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants

Extending protein interaction networks using proteoforms and small molecules

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young

Roadmap for a precision-medicine initiative in the Nordic region

Congenital hyperinsulinism

Beta-Cell SCHAD Deficiency Causes Hypoglycemia in Mice

Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations

Studies in 3,523 Norwegians and Meta-Analysis in 11,571 Subjects Indicate That Variants in the Hepatocyte Nuclear Factor 4α (HNF4A) P2 Region Are Associated With Type 2 Diabetes in Scandinavians

Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis

Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders

Maturity onset diabetes of the young type 2 (MODY2): Insight from an extended family

An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide

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