Nature Search

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity

Anne-Sophie Frojmark
Jitendra Badhai
Niklas Dahl
ResearchOpen Access20 Feb 2009
Nature Precedings

P: 1
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

D Tentler
P Gustavsson
N Dahl
Research22 Jun 1999
European Journal of Human Genetics

Volume: 7, P: 541-548
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

Jocelyn Laporte
Ling Jia Hu
Niklas Dahl
Research01 Jun 1996
Nature Genetics

Volume: 13, P: 175-182
Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

Peter Gustavsson
Thiébaut-Noel Willig
Niklas Dahl
Research01 Aug 1997
Nature Genetics

Volume: 16, P: 368-371
A non-metal-to-metal I⁺−Ag⁺ coordination bond

Metal-metal bonds between metal cations are ubiquitous in coordination complexes, whereas similar bonding characteristics between non-metal and metal cations are not. Here, the authors report an X-ray crystal structure of a centrosymmetric complex [Ag(m-O₃SCF₃)₂{(4MePyNO)₂I}]₂ which features two unique I⁺–Ag⁺ bonds.

Rakesh Puttreddy
Niklas Limberg
Kari Rissanen
ResearchOpen Access13 Aug 2025
Nature Communications

Volume: 16, P: 1-9
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

Maritta Pigg
Tobias Gedde-Dahl Jr
Niklas Dahl
Research28 Jan 1999
European Journal of Human Genetics

Volume: 6, P: 589-596
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Sandra S. Strautnieks
Laura N. Bull
Richard J. Thompson
Research01 Nov 1998
Nature Genetics

Volume: 20, P: 233-238
My city never sleeps

After years as a researcher in sustainable city development, I discovered a dimension that is often overlooked and hidden in plain sight: the urban night. It offers a valuable space for fostering new ideas for urban sustainability and bridging disciplinary silos.

Niklas Effenberger
Comments & Opinion19 Jun 2025
Nature Cities

Volume: 2, P: 560
DIAMOND-BLACKFAN ANEMIA: GENETIC HOMOGENEITY FOR A GENE ON CHROMOSOME 19q13 RESTRICTED TO 1.8 Mb 28

Peter Gustavsson
Thiébaut-Noel Willig
Niklas Dahl
Research01 May 1997
Pediatric Research

Volume: 41, P: 741
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

Miriam Entesarian
Hans Matsson
Niklas Dahl
Research16 Jan 2005
Nature Genetics

Volume: 37, P: 125-128
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia
Peter Gustavsson
Niklas Dahl
Research01 Feb 1999
Nature Genetics

Volume: 21, P: 169-175
Allodynia limits the usefulness of intraspinal neural stem cell grafts; directed differentiation improves outcome

Christoph P Hofstetter
Niklas A V Holmström
Lars Olson
Research13 Feb 2005
Nature Neuroscience

Volume: 8, P: 346-353
WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

Sadia Nawaz
Joakim Klar
Niklas Dahl
Research27 May 2009
European Journal of Human Genetics

Volume: 17, P: 1600-1605
METHYLATION AND MUTATION PATTERNS IN THE FRAGILE X SYNDROME

Helena Malmgren
Marie-Louise Steen-Bondesson
Niklas Dahi
Research01 Nov 1992
Pediatric Research

Volume: 32, P: 621
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Richard J. Gibbons
Satvinder Bachoo
Douglas R. Higgs
Correspondence01 Oct 1997
Nature Genetics

Volume: 17, P: 146-148
Shear margins in upper half of Northeast Greenland Ice Stream were established two millennia ago

The flow of ice streams leaves traces in the stratigraphy of the ice sheets. Made visible by radar, they reveal the history of the upper North East Greenland Ice Stream. The ice stream is found to have existed in its current form for only about the last 2000 years.

Daniela Jansen
Steven Franke
Paul D. Bons
ResearchOpen Access08 Feb 2024
Nature Communications

Volume: 15, P: 1-12
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Mahmoud Reza Mansouri
Lena Marklund
Niklas Dahl
Research25 May 2005
European Journal of Human Genetics

Volume: 13, P: 970-977
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

Tahir Naeem Khan
Joakim Klar
Niklas Dahl
Research29 Jan 2014
European Journal of Human Genetics

Volume: 22, P: 1180-1184
A candidate region for Asperger syndrome defined by two 17p breakpoints

Dmitry Tentler
Tonnie Johannesson
Niklas Dahl
Research14 Feb 2003
European Journal of Human Genetics

Volume: 11, P: 189-195
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

Muhammad Tariq
Aysha Azhar
Joakim Klar
ResearchOpen Access12 Oct 2012
Scientific Reports

Volume: 2, P: 1-3
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity

Joakim Klar
Bengt Åsling
Niklas Dahl
Research11 May 2005
European Journal of Human Genetics

Volume: 13, P: 928-934
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

Joakim Klar
Doroteya Raykova
Niklas Dahl
Research18 Mar 2015
European Journal of Human Genetics

Volume: 23, P: 1679-1683
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

Joakim Klar
Zafar Ali
Niklas Dahl
Research10 May 2017
European Journal of Human Genetics

Volume: 25, P: 848-853
A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemic

This Registered Report presents evidence from 87 countries and regions showing that brief emotion-regulation interventions consistently reduced negative emotions and increased positive emotions during the COVID-19 pandemic.

Ke Wang
Amit Goldenberg
Hannah Moshontz
Research02 Aug 2021
Nature Human Behaviour

Volume: 5, P: 1089-1110
Integrative epigenome-wide analysis demonstrates that DNA methylation may mediate genetic risk in inflammatory bowel disease

Epigenetic perturbations may be an important factor in diseases where both genes and environment play a role. Here, Ventham and colleagues show that DNA methylation changes in inflammatory bowel disease are related to the underlying genotype, and are associated with cell-specific changes to gene expression.

N. T. Ventham
N. A. Kennedy
J. Satsangi
ResearchOpen Access25 Nov 2016
Nature Communications

Volume: 7, P: 1-14
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

Carina Frykholm
Joakim Klar
Niklas Dahl
Research24 Sept 2018
European Journal of Human Genetics

Volume: 26, P: 1871-1874
Directed evolution of a recombinase that excises the provirus of most HIV-1 primary isolates with high specificity

Excision of integrated HIV proviruses derived from most HIV-1 strains is achieved with a recombinase evolved in vitro.

Janet Karpinski
Ilona Hauber
Frank Buchholz
Research22 Feb 2016
Nature Biotechnology

Volume: 34, P: 401-409
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

Miriam Entesarian
Johanna Dahlqvist
Niklas Dahl
Research10 Jan 2007
European Journal of Human Genetics

Volume: 15, P: 379-382
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Mahmood Rasool
Jens Schuster
Shahid Mahmood Baig
Research01 Oct 2008
Journal of Human Genetics

Volume: 53, P: 894-898
Spread of pathological tau proteins through communicating neurons in human Alzheimer’s disease

The tau protein is theorized to spread transneuronally in Alzheimers disease, though this theory remains unproven in humans. Our simulations of epidemic-like protein spreading across human brain networks support this theory, and suggest the spreading dynamics are modified by β-amyloid

Jacob W. Vogel
Yasser Iturria-Medina
Per Wollmer
ResearchOpen Access26 May 2020
Nature Communications

Volume: 11, P: 1-15
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

M. Melin
J. Klar
N. Dahl
Research01 Oct 2006
Journal of Human Genetics

Volume: 51, P: 864-871
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Christoph Klein
Magda Grudzien
Karl Welte
Research24 Dec 2006
Nature Genetics

Volume: 39, P: 86-92
The Psychological Science Accelerator’s COVID-19 rapid-response dataset

Erin M. Buchanan
Savannah C. Lewis
Maximilian A. Primbs
ResearchOpen Access11 Feb 2023
Scientific Data

Volume: 10, P: 1-15
Author Correction: A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemic

Ke Wang
Amit Goldenberg
Hannah Moshontz
Amendments and Corrections24 Aug 2022
Nature Human Behaviour

Volume: 6, P: 1318-1319
Mutated IKZF1 is an independent marker of adverse risk in acute myeloid leukemia

Jan-Niklas Eckardt
Sebastian Stasik
Christian Thiede
ResearchOpen Access13 Oct 2023
Leukemia

Volume: 37, P: 2395-2403
Strong Founder Effect for the Fragile X Syndrome in Sweden

Helena Malmgren
Karl-Henrik Gustavson
Niklas Dahl
Research01 Apr 1994
European Journal of Human Genetics

Volume: 2, P: 103-109
Presence of an IDS-Related Locus (IDS2) in Xq28 Complicates the Mutational Analysis of Hunter Syndrome

Marie-Louise Bondeson
Helena Malmgren
Ulf Pettersson
Research01 Jul 1995
European Journal of Human Genetics

Volume: 3, P: 219-227
Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013

Adrianna Vlachos
Niklas Dahl
Jeffrey M Lipton
Research06 Mar 2013
European Journal of Human Genetics

Volume: 21, P: 1187
Clinical utility gene card for: Diamond Blackfan anemia

Adrianna Vlachos
Niklas Dahl
Jeffrey M Lipton
Research19 Jan 2011
European Journal of Human Genetics

Volume: 19, P: 615
Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

Dana Gabriková
Carina Frykholm
Joakim Klar
Research07 Oct 2010
Journal of Human Genetics

Volume: 55, P: 834-837
Persistent pulmonary pathology after COVID-19 is associated with high viral load, weak antibody response, and high levels of matrix metalloproteinase-9

Tøri Vigeland Lerum
Niklas Nyboe Maltzahn
Ole Henning Skjønsberg
ResearchOpen Access01 Dec 2021
Scientific Reports

Volume: 11, P: 1-12
A combined approach for single-cell mRNA and intracellular protein expression analysis

Here, the authors present SPARC, a scalable approach for simultaneously measuring mRNA expression levels and targeted intracellular protein levels in single cells. They use SPARC to measure dynamic expression changes in human cells during neuronal differentiation and show that mRNA levels are poor predictors of protein abundances and activity in individual cells, indicating that the measurements are complementary.

Johan Reimegård
Marcel Tarbier
Caroline J. Gallant
ResearchOpen Access25 May 2021
Communications Biology

Volume: 4, P: 1-11
Prognostic implications of the expression levels of different immunoglobulin heavy chain-encoding RNAs in early breast cancer

Christer Larsson
Anna Ehinger
Niklas Loman
ResearchOpen Access06 Jul 2020
npj Breast Cancer

Volume: 6, P: 1-13
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Eva-Lena Stattin
Petra Henning
Ulf H. Lerner
ResearchOpen Access07 Jun 2017
Scientific Reports

Volume: 7, P: 1-16
Author Correction: Spread of pathological tau proteins through communicating neurons in human Alzheimer’s disease

Jacob W. Vogel
Yasser Iturria-Medina
Per Wollmer
Amendments and CorrectionsOpen Access05 Aug 2021
Nature Communications

Volume: 12, P: 1
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Pritesh Jain
Tyne Miller-Fleming
Peristera Paschou
ResearchOpen Access23 Feb 2023
Translational Psychiatry

Volume: 13, P: 1-10
The prevalence and transcriptional activity of the mucosal microbiota of ulcerative colitis patients

Aina E. Fossum Moen
Jonas Christoffer Lindstrøm
Alan G. Shand
ResearchOpen Access22 Nov 2018
Scientific Reports

Volume: 8, P: 1-12

Search

Filter By:

Search

Quick links