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TT2020 meeting report on the 16th Transgenic Technology Meeting

Transgenic research, 2021-02, Vol.30 (1), p.121-128

2021

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Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

Developmental medicine and child neurology, 2021-09, Vol.63 (9), p.1066-1074

2021

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NHLRC2 expression is increased in idiopathic pulmonary fibrosis

Respiratory research, 2022-08, Vol.23 (1), p.1-206, Article 206

2022

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Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

PloS one, 2018-08, Vol.13 (8), p.e0202391

2018

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Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

Developmental medicine and child neurology, 2024-07

2024

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High NHLRC2 expression is associated with shortened survival in lung adenocarcinoma

Translational lung cancer research, 2023-06, Vol.12 (6), p.1221-1235

2023

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Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

Molecular medicine (Cambridge, Mass.), 2020-12, Vol.26 (1), p.123-123, Article 123

2020

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A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

Frontiers in molecular neuroscience, 2024-04, Vol.17, p.1372662-1372662

2024

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ciRS-7 and miR-7 regulate ischemia-induced neuronal death via glutamatergic signaling

Cell reports (Cambridge), 2024-03, Vol.43 (3), p.113862-113862, Article 113862

2024

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The Finnish genetic heritage in 2022 – from diagnosis to translational research

Disease models & mechanisms, 2022-10, Vol.15 (10)

2022

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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

Frontiers in neuroscience, 2023-04, Vol.17, p.1123327

2023

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Analysis of human brain tissue derived from DBS surgery

Translational neurodegeneration, 2022-04, Vol.11 (1), p.22-22, Article 22

2022

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Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Cells (Basel, Switzerland), 2021-11, Vol.10 (11), p.3158

2021

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Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

BMC neurology, 2017-05, Vol.17 (1), p.96-96, Article 96

2017

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Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Molecular neurodegeneration, 2010-02, Vol.5 (1), p.8-8, Article 8

2010

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Mitochondrial Hearing Loss Mutations among Finnish Preterm and Term-Born Infants

Audiology research (Pavia, Italy), 2017-11, Vol.7 (2), p.189

2017

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FinnGen provides genetic insights from a well-phenotyped isolated population

Nature (London), 2023-01, Vol.613 (7944), p.508-518

2023

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Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

Nature medicine, 2020-04, Vol.26 (4), p.549-557

2020

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POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

BMC neurology, 2010-05, Vol.10 (1), p.29-29, Article 29

2010

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Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model

Toxicology (Amsterdam), 2015-05, Vol.331, p.47-56

2015

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Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin function

RSC advances, 2024-09, Vol.14 (39), p.28797-28806

2024

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Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema

The Journal of clinical investigation, 2024-07, Vol.134 (14)

2024

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The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Nature communications, 2020-12, Vol.11 (1), p.6383-6383, Article 6383

2020

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TT2020 meeting report on the 16th Transgenic Technology Meeting

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

NHLRC2 expression is increased in idiopathic pulmonary fibrosis

Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

High NHLRC2 expression is associated with shortened survival in lung adenocarcinoma

Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

ciRS-7 and miR-7 regulate ischemia-induced neuronal death via glutamatergic signaling

The Finnish genetic heritage in 2022 – from diagnosis to translational research

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

Analysis of human brain tissue derived from DBS surgery

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Mitochondrial Hearing Loss Mutations among Finnish Preterm and Term-Born Infants

FinnGen provides genetic insights from a well-phenotyped isolated population

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model

Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin function

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

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