[PDF][PDF] Confirmation of the type 2 myotonic dystrophy (CCTG) n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of …
…, A Bottani, A Kohler, MD Shriver, R Sallinen… - The American Journal of …, 2003 - cell.com
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a
clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by …
clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by …
Individual and stable autoantibody repertoires in healthy individuals
In the era towards precision medicine, we here present the individual specific autoantibody
signatures of 193 healthy individuals. The self-reactive IgG signatures are stable over time in …
signatures of 193 healthy individuals. The self-reactive IgG signatures are stable over time in …
Elevated MBL Concentrations Are Not an Indication of Association Between the MBL2 Gene and Type 1 Diabetes or Diabetic Nephropathy
MA Kaunisto, L Sjölind, R Sallinen… - Diabetes, 2009 - Am Diabetes Assoc
OBJECTIVE Mannose-binding lectin (MBL) is an essential component of the acute-phase
immune response and may thus play a role in the pathogenesis of type 1 diabetes and …
immune response and may thus play a role in the pathogenesis of type 1 diabetes and …
New methods for molecular diagnosis and demonstration of the (CCTG) n mutation in myotonic dystrophy type 2 (DM2)
R Sallinen, A Vihola, LL Bachinski, K Huoponen… - Neuromuscular …, 2004 - Elsevier
Myotonic dystrophy types 1 and 2 are autosomal dominant, multisystemic disorders with
many similarities in their clinical manifestations. Myotonic dystrophy type 1 is caused by a (CTG)…
many similarities in their clinical manifestations. Myotonic dystrophy type 1 is caused by a (CTG)…
Multiomics and digital monitoring during lifestyle changes reveal independent dimensions of human biology and health
…, P Nilsson, T Moritz, T Miettinen, R Sallinen… - Cell systems, 2022 - cell.com
We explored opportunities for personalized and predictive health care by collecting serial
clinical measurements, health surveys, genomics, proteomics, autoantibodies, metabolomics, …
clinical measurements, health surveys, genomics, proteomics, autoantibodies, metabolomics, …
Association of the SLC22A1, SLC22A2, and SLC22A3 genes encoding organic cation transporters with diabetic nephropathy and hypertension
R Sallinen, MA Kaunisto, C Forsblom… - Annals of …, 2010 - Taylor & Francis
Background. Diabetic nephropathy (DN) is a severe long-term complication of diabetes
characterized by continuous albuminuria, a relentless decline in renal function, and an increased …
characterized by continuous albuminuria, a relentless decline in renal function, and an increased …
[HTML][HTML] Genetic risk score for serum 25-hydroxyvitamin D concentration helps to guide personalized vitamin D supplementation in healthy Finnish adults
RJ Sallinen, O Dethlefsen, S Ruotsalainen… - The Journal of …, 2021 - Elsevier
Background Genetic factors modify serum 25-hydroxyvitamin D [25(OH)D] concentration
and can affect the optimal intake of vitamin D. Objectives We aimed to personalize vitamin D …
and can affect the optimal intake of vitamin D. Objectives We aimed to personalize vitamin D …
Novel splice site CACNA1A mutation causing episodic ataxia type 2
MA Kaunisto, H Harno, M Kallela, H Somer, R Sallinen… - Neurogenetics, 2004 - Springer
Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized
by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with …
by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with …
[HTML][HTML] Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes
…, MA Kaunisto, J Söderlund, J Ilonen, R Sallinen… - PloS one, 2011 - journals.plos.org
Background Diabetic nephropathy (DN) affects about 30% of patients with type 1 diabetes (T1D)
and contributes to serious morbidity and mortality. So far only the 3q21–q25 region has …
and contributes to serious morbidity and mortality. So far only the 3q21–q25 region has …
Chromosomal localization of SLC12A5/Slc12a5, the human and mouse genes for the neuron-specific K+-Cl– cotransporter (KCC2) defines a new region of …
R Sallinen, J Tornberg, M Putkiranta… - … and Genome Research, 2001 - karger.com
K + -Cl – cotransporters (KCCs) constitute a branch of the cation-chloride cotransporter (CCC)
family. To date, four KCC isoforms (KCC1-KCC4) have been identified and they all …
family. To date, four KCC isoforms (KCC1-KCC4) have been identified and they all …