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Akademický článek

Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

Autor: Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Annete P. Gjesing, Mulazim Hussain, Muhammad Tufail, Muhammad Saqib, Kiran Afshan, Torben Hansen

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders (LSDs). MPSs are caused by excessive accumulation of mucopolysaccharides due to missing or deficiency of enzymes required for the degradation of specific macromolecules. MPS I-IV,

Externí odkaz: https://doaj.org/article/b6d09e42414947b39398afe8a9707beb

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Rationale and design of a prospective, clinical study of kidney biopsies in people with type 2 diabetes and severely increased albuminuria (the PRIMETIME 2 study)

Autor: Torben Hansen, Rikke Borg, Ditte Hansen, Peter Rossing, Marie Møller, Frederik Persson, Iain Bressendorff, Lisbeth N Fink, Eva Gravesen, Karina Haar Jensen, Dorrit Krustrup, Frederikke E Sembach, Anne C B Thuesen

Publikováno v: BMJ Open, Vol 13, Iss 6 (2023)

Introduction Diabetic kidney disease is a severe complication of diabetes. The diagnosis is based on clinical characteristics such as persistently elevated albuminuria, hypertension and decline in kidney function, although this definition is not spec

Externí odkaz: https://doaj.org/article/af6ef8cddc174f79921b916b0d872a8e

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Akademický článek

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Autor: Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies. These disorders are caused by defects in lysosomal enzymes, transporters, and other non-lysoso

Externí odkaz: https://doaj.org/article/b7361e4010c94f559237093e8ab44814

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Akademický článek

Genetic factors and risk of type 2 diabetes among women with a history of gestational diabetes: findings from two independent populations

Autor: Louise G Grunnet, Anne Cathrine B Thuesen, Edwina Yeung, Freja Bach Kampmann, Anne Ahrendt Bjerregaard

Publikováno v: BMJ Open Diabetes Research & Care, Vol 8, Iss 1 (2020)

ObjectiveWomen with a history of gestational diabetes mellitus (GDM) have an exceptionally high risk for type 2 diabetes (T2D). Yet, little is known about genetic determinants for T2D in this population. We examined the association of a genetic risk

Externí odkaz: https://doaj.org/article/ea4cb97a6108423fb2c7cb2c9e0851bb

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Akademický článek

Household dampness and microbial exposure related to allergy and respiratory health in Danish adults

Autor: G. Juel Holst, Ad Pørneki, J. Lindgreen, B. Thuesen, J. Bønløkke, A. Hyvärinen, G. Elholm, K. Østergaard, S. Loft, C. Brooks, J. Douwes, A. Linneberg, T. Sigsgaard

Publikováno v: European Clinical Respiratory Journal, Vol 7, Iss 1 (2020)

Background Indoor dampness has consistently been associated with respiratory symptoms and exacerbations. The causal mechanisms may involve increased microbial exposures. However, the evidence regarding the influence of indoor microbial exposures unde

Externí odkaz: https://doaj.org/article/7a0ad3641c724f46a4163a4a91e78f20

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Circulating Metabolomic and Lipidomic Signatures Identify a Type 2 Diabetes Risk Profile in Low-Birth-Weight Men with Non-Alcoholic Fatty Liver Disease

Autor: Line O. Elingaard-Larsen, Sofie O. Villumsen, Louise Justesen, Anne Cathrine B. Thuesen, Min Kim, Mina Ali, Else R. Danielsen, Cristina Legido-Quigley, Gerrit van Hall, Torben Hansen, Tarunveer S. Ahluwalia, Allan A. Vaag, Charlotte Brøns

Publikováno v: Elingaard-Larsen, L O, Villumsen, S O, Justesen, L, Thuesen, A C B, Kim, M, Ali, M, Danielsen, E R, Legido-Quigley, C, van Hall, G, Hansen, T, Ahluwalia, T S, Vaag, A A & Brøns, C 2023, ' Circulating Metabolomic and Lipidomic Signatures Identify a Type 2 Diabetes Risk Profile in Low-Birth-Weight Men with Non-Alcoholic Fatty Liver Disease ', Nutrients, vol. 15, no. 7, 1590 . https://doi.org/10.3390/nu15071590
Nutrients; Volume 15; Issue 7; Pages: 1590

The extent to which increased liver fat content influences differences in circulating metabolites and/or lipids between low-birth-weight (LBW) individuals, at increased risk of type 2 diabetes (T2D), and normal-birth-weight (NBW) controls is unknown.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::842b19d1d3e66a0333650ba99a59b70f
https://curis.ku.dk/portal/da/publications/circulating-metabolomic-and-lipidomic-signatures-identify-a-type-2-diabetes-risk-profile-in-lowbirthweight-men-with-nonalcoholic-fatty-liver-disease(453fce51-27a5-4b66-abfe-c1f6538f6d73).html

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14-fold increased prevalence of rare glucokinase gene variant carriers in unselected Danish patients with newly diagnosed type 2 diabetes

Publikováno v: Gjesing, A P, Engelbrechtsen, L, Cathrine B. Thuesen, A, Have, C T, Hollensted, M, Grarup, N, Linneberg, A, Steen Nielsen, J, Christensen, L B, Thomsen, R W, Johansson, K E, Cagiada, M, Gersing, S, Hartmann-Petersen, R, Lindorff-Larsen, K, Vaag, A, Sørensen, H T, Brandslund, I, Beck-Nielsen, H, Pedersen, O, Rungby, J & Hansen, T 2022, ' 14-fold increased prevalence of rare glucokinase gene variant carriers in unselected Danish patients with newly diagnosed type 2 diabetes ', Diabetes Research and Clinical Practice, vol. 194, 110159 . https://doi.org/10.1016/j.diabres.2022.110159

AimsRare variants in the glucokinase gene (GCK) cause Maturity-Onset Diabetes of the Young (MODY2/GCK-MODY). We investigated the prevalence of GCK variants, phenotypic characteristics, micro- and macrovascular disease at baseline and follow-up, and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c3de5567ce3708f7bec625eb2130cbf
https://pure.au.dk/portal/da/publications/14fold-increased-prevalence-of-rare-glucokinase-gene-variant-carriers-in-unselected-danish-patients-with-newly-diagnosed-type-2-diabetes(48e449f1-fb13-42d7-8dfe-ef06fc7bfc8d).html

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Akademický článek

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277-OR: Increased Liver Fat Is Associated with Severe Metabolic Perturbations in Men Born with a Low Birth Weight

Autor: LINE OHRT ELINGAARD-LARSEN, LOUISE JUSTESEN, SOFIE O. VILLUMSEN, ANNE CATHRINE B. THUESEN, JOACHIM STØRLING, LAUREN M. SPARKS, MIN KIM, CRISTINA LEGIDO-QUIGLEY, ELSE R. DANIELSEN, TORBEN HANSEN, CHARLOTTE BRØNS, ALLAN A. VAAG

Publikováno v: Diabetes. 71

Background: Ectopic fat deposition resulting from impaired subcutaneous adipose tissue expandability may take center stage in the pathophysiological events linking low birth weight (LBW) with increased risk of developing Type 2 diabetes (T2D) . Howev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1be44fe1e811a7d8e8513bd92926b077
https://doi.org/10.2337/db22-277-or

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