Mauri Laakso
University of Oulu
EndocrinologyInsulinDiabetes mellitusMedicineBiology
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Publications 856
#1Jonna Männistö (University of Eastern Finland)H-Index: 1
#2Maleeha Maria (University of Eastern Finland)H-Index: 1
Last. Mauri Laakso (University of Eastern Finland)H-Index: 139
view all 7 authors...
CONTEXT: Major advances have been made in the genetics and classification of congenital hyperinsulinism (CHI). OBJECTIVE: To examine the genetics and clinical characteristics of patients with persistent and transient CHI. DESIGN: A cross-sectional study with the register data and targeted sequencing of 104 genes affecting glucose metabolism. PATIENTS: Genetic and phenotypic data were collected from 153 patients with persistent (n = 95) and transient (n = 58) CHI diagnosed between 1972 and 2015. ...
#1Joel Mefford (UCLA: University of California, Los Angeles)H-Index: 11
#2Danny S. Park (UCSF: University of California, San Francisco)H-Index: 5
Last. Noah Zaitlen (UCLA: University of California, Los Angeles)H-Index: 32
view all 10 authors...
Large-scale cohorts with combined genetic and phenotypic data, coupled with methodological advances, have produced increasingly accurate genetic predictors of complex human phenotypes called polyge...
#1Naeimeh Atabaki-Pasdar (Lund University)H-Index: 3
#2Mattias Ohlsson (Lund University)H-Index: 27
Last. Azra Kurbasic (Lund University)H-Index: 6
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Background: Non-alcoholic fatty liver disease (NAFLD) is highly prevalent and causes serious health complications in type 2 diabetes (T2D) and beyond. Early diagnosis of NAFLD is important, as this can help prevent irreversible damage to the liver and ultimately hepatocellular carcinomas. Methods and Findings: Utilizing the baseline data from the IMI DIRECT participants (n=1514) we sought to expand etiological understanding and develop a diagnostic tool for NAFLD using machine learning. Multi-om...
#1Robert W. Koivula (University of Oxford)H-Index: 8
#3Naeimeh Atabaki-Pasdar (Lund University)H-Index: 3
Last. Søren Brunak (DTU: Technical University of Denmark)H-Index: 91
view all 34 authors...
It is well established that physical activity, abdominal ectopic fat and glycaemic regulation are related but the underlying structure of these relationships is unclear. The previously proposed twin-cycle hypothesis (TC) provides a mechanistic basis for impairment in glycaemic control through the interactions of substrate availability, substrate metabolism and abdominal ectopic fat accumulation. Here, we hypothesise that the effect of physical activity in glucose regulation is mediated by the tw...
Last. Johanna KuusistoH-Index: 85
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Objective To investigate whether the Ala143Thr variant of the α-galactosidase A gene (A143T/GLA), with conflicting interpretations of pathogenicity, is associated with Fabry cardiomyopathy. Methods The index patient, a woman in her 60s with cardiomyopathy, was screened for variants in 59 cardiomyopathy-related genes. A143T/GLA, the only rare variant found, was screened in 10 relatives. GLA activity and lyso-Gb3 levels were measured and echocardiography was performed in 8 of 9 subjects carrying A...
1 CitationsSource
#1Adam E. Locke (UM: University of Michigan)H-Index: 25
#2Karyn Meltz Steinberg (WashU: Washington University in St. Louis)H-Index: 17
Last. Nelson B. Freimer (Semel Institute for Neuroscience and Human Behavior)H-Index: 81
view all 41 authors...
1 CitationsSource
#1Natasha Ng (Agency for Science, Technology and Research)
#2Sara M. Willems (University of Cambridge)H-Index: 28
Last. Xueling Sim (UM: University of Michigan)H-Index: 44
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Metabolic dysregulation in multiple tissues alters glucose homeostasis and influences risk for type 2 diabetes (T2D). To identify pathways and tissues influencing T2D-relevant glycemic traits (fasting glucose [FG], fasting insulin [FI], two-hour glucose [2hGlu] and glycated hemoglobin [HbA1c]), we investigated associations of exome-array variants in up to 144,060 individuals without diabetes of multiple ancestries. Single-variant analyses identified novel associations at 21 coding variants in 18...
#1M Ojanen (University of Eastern Finland)
#2Raimo Jauhiainen (University of Eastern Finland)H-Index: 4
Last. Mauri Laakso (University of Eastern Finland)H-Index: 139
view all 6 authors...