Nature Search

REGULATION OF mRNA FOR INSULIN-LIKE GROWTH FACTOR II (IGF-II) IN THE FETAL TESTIS

Raimo Voutilainen
Walter L Miller
Research01 Apr 1987
Pediatric Research

Volume: 21, P: 255
Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland

Antti Levo
Jarmo Jääskeläinen
Jukka Partanen
Research30 Mar 1999
European Journal of Human Genetics

Volume: 7, P: 188-196
LEYDIG CELL TUMOR PRESENTING AS CONGENITAL ADRENAL HYPERPLASIA (CAH)

Martin A Goldsmith
Sharyn B Solish
Walter L Miller
Research01 Apr 1987
Pediatric Research

Volume: 21, P: 247
Association of Serum Lipid Concentrations, Insulin Resistance Index and Catch-Up Growth with Serum Cortisol/Cortisone Ratio by Liquid Chromatography Tandem Mass Spectrometry in Children Born Small for Gestational Age

Sirpa Tenhola
Ursula Turpeinen
Raimo Voutilainen
Research01 Sept 2005
Pediatric Research

Volume: 58, P: 467-471
Serum Lipid Concentrations and Growth Characteristics in 12-year-old Children Born Small for Gestational Age

Sirpa Tenhola
Anneli Martikainen
Raimo Voutilainen
Research01 Nov 2000
Pediatric Research

Volume: 48, P: 623-628
Biochemical Markers of Bone Metabolism in Relation to Adrenocortical and Growth Suppression During the Initiation Phase of Inhaled Steroid Therapy

Senja Kannisto
Matti Korppi
Raimo Voutilainen
Research01 Aug 2002
Pediatric Research

Volume: 52, P: 258-262
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

To better understand the etiology of frailty, the authors perform a large genetic study. They identified 45 additional variants and implicated MET, CHST9, ILRUN, APOE, CGREF1 and PPP6C as potential causal genes, linking frailty to immune regulation, metabolism and cellular signaling.

Jonathan K. L. Mak
Chenxi Qin
Juulia Jylhävä
ResearchOpen Access05 Aug 2025
Nature Aging

Volume: 5, P: 1589-1600
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

A genome-wide association study identifies 17 genetic loci that are associated with the risk of myeloproliferative neoplasms (MPNs), and shows that the modulation of haematopoietic stem cell function drives MPN risk.

Erik L. Bao
Satish K. Nandakumar
Vijay G. Sankaran
Research14 Oct 2020
Nature

Volume: 586, P: 769-775
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

A genome-wide association study suggests 41 previously unreported loci on top of the 23 known loci that influence the disease risk for lumbar disc herniations. Many of these loci harbour genes implicated in disc structure and inflammation, as well as genes related to the nervous system and nerve function.

Ville Salo
Juhani Määttä
Johannes Kettunen
ResearchOpen Access07 Nov 2024
Nature Communications

Volume: 15, P: 1-14
New insights into the genetic etiology of Alzheimer’s disease and related dementias

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Céline Bellenguez
Fahri Küçükali
Jean-Charles Lambert
ResearchOpen Access04 Apr 2022
Nature Genetics

Volume: 54, P: 412-436
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the Xq23 locus with lipid changes and reduced risk of CHD and diabetes mellitus.

Pradeep Natarajan
Akhil Pampana
Gina M. Peloso
ResearchOpen Access12 Apr 2021
Nature Communications

Volume: 12, P: 1-14
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Narcolepsy has genetic and environmental risk factors, but the specific genetic risk loci and interaction with environmental triggers are not well understood. Here, the authors identify genetic loci for narcolepsy, suggesting infection as a trigger and dendritic and helper T cell involvement.

Hanna M. Ollila
Eilon Sharon
Emmanuel J. Mignot
ResearchOpen Access15 May 2023
Nature Communications

Volume: 14, P: 1-13
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Many genetic factors that contribute to uterine leiomyomata (UL) - the most common tumours of the female genital tract - remain to be discovered. Here, the authors conduct a UL meta-genome-wide association study, and find loci related to altered muscle tissue biology that are associated with UL.

Eeva Sliz
Jaakko S. Tyrmi
Johannes Kettunen
ResearchOpen Access01 Feb 2023
Nature Communications

Volume: 14, P: 1-14
Novel neurotrophic factor CDNF protects and rescues midbrain dopamine neurons in vivo

The discovery and purification of a new neurotrophic factor, conserved dopamine neurotrophic Factor (CDNF), is reported. Like the glial cell line-derived neurotrophic factor GDNF, CDNF can prevent degeneration of dopaminergic neurons in a rat model of Parkinson's disease.

Päivi Lindholm
Merja H. Voutilainen
Mart Saarma
Research05 Jul 2007
Nature

Volume: 448, P: 73-77
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Sanni E. Ruotsalainen
Juulia J. Partanen
Jukka Koskela
Research27 Oct 2020
European Journal of Human Genetics

Volume: 29, P: 309-324
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

The burden of mosaic chromosomal alterations in blood-derived DNA, a type of clonal hematopoiesis, is associated with an increased risk for diverse types of infections, including sepsis and pneumonia.

Seyedeh M. Zekavat
Shu-Hong Lin
Pradeep Natarajan
Research07 Jun 2021
Nature Medicine

Volume: 27, P: 1012-1024
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.

Puya Gharahkhani
Eric Jorgenson
Janey L. Wiggs
ResearchOpen Access24 Feb 2021
Nature Communications

Volume: 12, P: 1-16
The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Identifying women at high risk of breast cancer has important implications for screening. Here, the authors demonstrate that polygenic risk scores improve breast cancer risk prediction in the population, in women with mutations in high-risk genes and in women with close relatives with the disease.

Nina Mars
Elisabeth Widén
Samuli Ripatti
ResearchOpen Access14 Dec 2020
Nature Communications

Volume: 11, P: 1-9
Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Cardiovascular diseases (CVD) are associated with plasma lipid levels. Here, Tabassum et al. perform genome-wide association studies for lipidomic profiles with 141 (non-standard) lipid species which highlights shared genetic loci with CVD and that traditional lipids have low genetic correlation with other lipids.

Rubina Tabassum
Joel T. Rämö
Samuli Ripatti
ResearchOpen Access24 Sept 2019
Nature Communications

Volume: 10, P: 1-14
Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

In a large and prospective cohort, higher polygenic risk is associated with higher risk and earlier age of onset for cardiometabolic disorders and cancer, and has added value to clinical risk scores in clinical disease prediction.

Nina Mars
Jukka T. Koskela
Samuli Ripatti
Research07 Apr 2020
Nature Medicine

Volume: 26, P: 549-557
Prepubertal children born large for gestational age have lower serum DHEAS concentrations than those with a lower birth weight

Henrikki Nordman
Raimo Voutilainen
Jarmo Jääskeläinen
Research17 May 2017
Pediatric Research

Volume: 82, P: 285-289
RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours

Dewi Astuti
Angelo Agathanggelou
Farida Latif
Research15 Nov 2001
Oncogene

Volume: 20, P: 7573-7577
Growth of Patients with 21-Hydroxylase Deficiency: An Analysis of the Factors Influencing Adult Height

Jarmo Jääskeläinen
Raimo Voutilainen
Research01 Jan 1997
Pediatric Research

Volume: 41, P: 30-33
A Clinically Useful Method for Detecting Gonadotropins in Children: Assessment of Luteinizing Hormone and Follicle-Stimulating Hormone from Urine as an Alternative to Serum by Ultrasensitive Time-Resolved Immunofluorometric Assays

And Demir
Henrik Alfthan
Raimo Voutilainen
Research01 Aug 1994
Pediatric Research

Volume: 36, P: 221-226
Serum androgen bioactivity is low in children with premature adrenarche

Jani Liimatta
Saila Laakso
Jarmo Jääskeläinen
Research12 Feb 2014
Pediatric Research

Volume: 75, P: 645-650
Maternal Preeclampsia Predicts Elevated Blood Pressure in 12-Year-Old Children: Evaluation by Ambulatory Blood Pressure Monitoring

Sirpa Tenhola
Eero Rahiala
Raimo Voutilainen
Research01 Feb 2006
Pediatric Research

Volume: 59, P: 320-324
Birth size, body composition, and adrenal androgens as determinants of bone mineral density in mid-childhood

Henrikki Nordman
Raimo Voutilainen
Jarmo Jääskeläinen
Research28 Feb 2018
Pediatric Research

Volume: 83, P: 993-998
ACTH Receptor Promoter Polymorphism Associates With Severity of Premature Adrenarche and Modulates Hypothalamo-Pituitary-Adrenal Axis in Children

Saila Lappalainen
Pauliina Utriainen
Jarmo Jääskeläinen
Research01 Apr 2008
Pediatric Research

Volume: 63, P: 410-414
Children born small-for-gestational-age exhibit normal body fat but elevated hs-CRP and hepatocellular lipid content

Leena Hintikka
Jarmo Jääskeläinen
Juhana Hakumäki
ResearchOpen Access16 Oct 2025
Pediatric Research

P: 1-7
Avocado consumption during pregnancy linked to lower child food allergy risk: prospective KuBiCo study

Feon W. Cheng
Ella Bauer
Sari Hantunen
ResearchOpen Access07 Mar 2025
Pediatric Research

Volume: 99, P: 119-125
Novel loci and biomedical consequences of iron homoeostasis variation

The largest meta-analysis of GWASs of hepcidin and sTfR identified 43 genomic loci, of which 15 new. Mendelian randomisation revealed associations of systemic iron status and iron-related loci with selected health outcomes across multiple domains.

Elias Allara
Steven Bell
Emanuele Di Angelantonio
ResearchOpen Access06 Dec 2024
Communications Biology

Volume: 7, P: 1-17
Cognitive performance in young adult women with a history of premature adrenarche

Jussi Tennilä
Liisa Muukkonen
Jani Liimatta
ResearchOpen Access05 Jul 2024
Pediatric Research

Volume: 97, P: 714-722
NTHL1 is a recessive cancer susceptibility gene

Anna K. Nurmi
Liisa M. Pelttari
Heli Nevanlinna
ResearchOpen Access30 Nov 2023
Scientific Reports

Volume: 13, P: 1-14
A FinnGen pilot clinical recall study for Alzheimer’s disease

Valtteri Julkunen
Claudia Schwarz
Heiko Runz
ResearchOpen Access03 Aug 2023
Scientific Reports

Volume: 13, P: 1-15
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

A genome-wide association study identifies MFGE8 as protective against coronary atherosclerosis in European and East Asian populations.

Sanni E. Ruotsalainen
Ida Surakka
Samuli Ripatti
ResearchOpen Access17 Aug 2022
Communications Biology

Volume: 5, P: 1-16
Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Max Tamlander et al. combine polygenic risk scores and clinical assessments to improve prediction of coronary artery disease and type 2 diabetes in European cohorts. Taken together, their results provide a useful method for preliminary cardiometabolic risk assessment in patients.

Max Tamlander
Nina Mars
Samuli Ripatti
ResearchOpen Access23 Feb 2022
Communications Biology

Volume: 5, P: 1-13

Search

REGULATION OF mRNA FOR INSULIN-LIKE GROWTH FACTOR II (IGF-II) IN THE FETAL TESTIS

Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland

LEYDIG CELL TUMOR PRESENTING AS CONGENITAL ADRENAL HYPERPLASIA (CAH)

Association of Serum Lipid Concentrations, Insulin Resistance Index and Catch-Up Growth with Serum Cortisol/Cortisone Ratio by Liquid Chromatography Tandem Mass Spectrometry in Children Born Small for Gestational Age

Serum Lipid Concentrations and Growth Characteristics in 12-year-old Children Born Small for Gestational Age

Biochemical Markers of Bone Metabolism in Relation to Adrenocortical and Growth Suppression During the Initiation Phase of Inhaled Steroid Therapy

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Novel neurotrophic factor CDNF protects and rescues midbrain dopamine neurons in vivo

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

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

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

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

Prepubertal children born large for gestational age have lower serum DHEAS concentrations than those with a lower birth weight

RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours

Growth of Patients with 21-Hydroxylase Deficiency: An Analysis of the Factors Influencing Adult Height

A Clinically Useful Method for Detecting Gonadotropins in Children: Assessment of Luteinizing Hormone and Follicle-Stimulating Hormone from Urine as an Alternative to Serum by Ultrasensitive Time-Resolved Immunofluorometric Assays

Serum androgen bioactivity is low in children with premature adrenarche

Maternal Preeclampsia Predicts Elevated Blood Pressure in 12-Year-Old Children: Evaluation by Ambulatory Blood Pressure Monitoring

Birth size, body composition, and adrenal androgens as determinants of bone mineral density in mid-childhood

ACTH Receptor Promoter Polymorphism Associates With Severity of Premature Adrenarche and Modulates Hypothalamo-Pituitary-Adrenal Axis in Children

Children born small-for-gestational-age exhibit normal body fat but elevated hs-CRP and hepatocellular lipid content

Avocado consumption during pregnancy linked to lower child food allergy risk: prospective KuBiCo study

Novel loci and biomedical consequences of iron homoeostasis variation

Cognitive performance in young adult women with a history of premature adrenarche

NTHL1 is a recessive cancer susceptibility gene

A FinnGen pilot clinical recall study for Alzheimer’s disease

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Search

Quick links

Search

Filter By:

Search

Quick links