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Showing 151–200 of 226 results

Advanced filters: Author: Michael Brunner Clear advanced filters

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Hans van Bokhoven and colleagues report mutations in the ISPD gene as a cause of Walker-Warburg syndrome. Knockdown of ispd in zebrafish causes hydrocephalus, reduced eye size, muscle degeneration and α-dystroglycan hypoglycosylation.

Tony Roscioli
Erik-Jan Kamsteeg
Hans van Bokhoven
Research22 Apr 2012
Nature Genetics

Volume: 44, P: 581-585
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

William Dobyns, Daniela Pilz and colleagues show that de novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome, a developmental disorder characterized by distinct craniofacial features, ocular colobomata and defects in neuronal migration.

Jean-Baptiste Rivière
Bregje W M van Bon
William B Dobyns
Research26 Feb 2012
Nature Genetics

Volume: 44, P: 440-444
Amorphous shear band formation in crystalline Si-anodes governs lithiation and capacity fading in Li-ion batteries

Silicon undergoes large volume changes during lithium insertion and extraction, affecting the internal lithium-ion battery structure. Here, the mechanisms of how non-hydrostatic strain upon electrochemical cycling affects the crystalline silicon core was investigated.

Michael Häusler
Olga Stamati
Roland Brunner
ResearchOpen Access21 Aug 2024
Communications Materials

Volume: 5, P: 1-13
Miscarriage and stillbirth following maternal Zika virus infection in nonhuman primates

Zika virus infection during pregnancy is associated with an increased rate of fetal loss in nonhuman primates, as reported in this multicenter analysis.

Dawn M. Dudley
Koen K. Van Rompay
David H. O’Connor
Research02 Jul 2018
Nature Medicine

Volume: 24, P: 1104-1107
Containment of transgenic trees by suppression of LEAFY

Amy L Klocko
Amy M Brunner
Steven H Strauss
Correspondence08 Sept 2016
Nature Biotechnology

Volume: 34, P: 918-922
Regulation of impulsive and aggressive behaviours by a novel lncRNA

Benoit Labonté
Khaled Abdallah
Gustavo Turecki
Research06 Jan 2020
Molecular Psychiatry

Volume: 26, P: 3751-3764
Correlative, ML-based and non-destructive 3D-analysis of intergranular fatigue cracking in SAC305-Bi solder balls

Charlotte Cui
Fereshteh Falah Chamasemani
Roland Brunner
ResearchOpen Access20 Apr 2024
npj Materials Degradation

Volume: 8, P: 1-12
The protein import motor of mitochondria

Walter Neupert
Michael Brunner
Reviews01 Aug 2002
Nature Reviews Molecular Cell Biology

Volume: 3, P: 555-565
The VNTR 2 repeat in MAOA and delinquent behavior in adolescence and young adulthood: associations and MAOA promoter activity

Guang Guo
Xiao-Ming Ou
Jean C Shih
Research23 Jan 2008
European Journal of Human Genetics

Volume: 16, P: 626-634
Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt^Q111/+ model of Huntington’s disease

Robert M. Bragg
Sydney R. Coffey
Jeffrey B. Carroll
ResearchOpen Access08 Feb 2017
Scientific Reports

Volume: 7, P: 1-17
Presence of atypical porcine pestivirus (APPV) genomes in newborn piglets correlates with congenital tremor

Alexander Postel
Florian Hansmann
Paul Becher
ResearchOpen Access13 Jun 2016
Scientific Reports

Volume: 6, P: 1-9
ABCA1 mRNA and Protein Distribution Patterns Predict Multiple Different Roles and Levels of Regulation

Cheryl L Wellington
Elizabeth K Y Walker
Michael R Hayden
Research01 Mar 2002
Laboratory Investigation

Volume: 82, P: 273-283
Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Eva Gonçalves Serra
Tobias Schwerd
Carl A. Anderson
Amendments and CorrectionsOpen Access22 Jun 2022
Nature Communications

Volume: 13, P: 1
Reduction in sugar drink valuation and consumption with gamified executive control training

Hugo Najberg
Michael Mouthon
Lucas Spierer
ResearchOpen Access30 Jun 2023
Scientific Reports

Volume: 13, P: 1-16
Induction of CD95 ligand and apoptosis by doxorubicin is modulated by the redox state in chemosensitive- and drug-resistant tumor cells

Claudia Friesen
Simone Fulda
Klaus-Michael Debatin
Research17 May 1999
Cell Death & Differentiation

Volume: 6, P: 471-480
Role of Endogenous Atrial Natriuretic Peptide in Chronic Anemia in the Ovine Fetus: Effects of a Non-Peptide Antagonist for Atrial Natriuretic Peptide Receptor

Michael Silberbach
Lori L Woods
Lowell E Davis
Research01 Nov 1995
Pediatric Research

Volume: 38, P: 722-728
A Biobehavioral Validation of the Taylor Aggression Paradigm in Female Adolescents

Lena Rinnewitz
Peter Parzer
Michael Kaess
ResearchOpen Access07 May 2019
Scientific Reports

Volume: 9, P: 1-10
Probing the composition dependence of residual stress distribution in tungsten-titanium nanocrystalline thin films

Nanocrystalline thin films fabricated by deposition often have high residual stresses, making them susceptible to defects. Here, stress distribution in tungsten-titanium nanocrystalline films are probed by experimental and simulation techniques, revealing the impact of solute concentration on residual stress.

Rahulkumar Jagdishbhai Sinojiya
Priya Paulachan
Roland Brunner
ResearchOpen Access15 Feb 2023
Communications Materials

Volume: 4, P: 1-12
Prognosis and quality of life in patients with locally advanced rectal cancer after abdominoperineal resection in the CAO/ARO/AIO-04 randomized phase 3 trial

Jochen Gaedcke
Malte Sahrhage
H. Leber
ResearchOpen Access13 Feb 2025
Scientific Reports

Volume: 15, P: 1-12
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

Gaby Schobers
Maartje Pennings
Lisenka E. L. M. Vissers
Research27 Sept 2024
European Journal of Human Genetics

Volume: 33, P: 56-64
Rocking cell death

Jan Paul Medema
Michael Hahne
Vincenzo De Laurenzi
News & Views12 Mar 1999
Cell Death & Differentiation

Volume: 6, P: 297-300
High expression of prostate-specific membrane antigen in the tumor-associated neo-vasculature is associated with worse prognosis in squamous cell carcinoma of the oral cavity

Michael C Haffner
Johannes Laimer
Neil H Bander
Research30 Mar 2012
Modern Pathology

Volume: 25, P: 1079-1085
Global data set of long-term summertime vertical temperature profiles in 153 lakes

Rachel M. Pilla
Elizabeth M. Mette
Tatyana V. Zhukova
ResearchOpen Access04 Aug 2021
Scientific Data

Volume: 8, P: 1-12
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Anneke I den Hollander
Robert K Koenekoop
Ronald Roepman
Research03 Jun 2007
Nature Genetics

Volume: 39, P: 889-895
Phase I First-in-Human Dose Escalation Study of the oral SF3B1 modulator H3B-8800 in myeloid neoplasms

David P. Steensma
Martin Wermke
Uwe Platzbecker
ResearchOpen Access25 Jun 2021
Leukemia

Volume: 35, P: 3542-3550
Galanin receptor 3 attenuates inflammation and influences the gut microbiota in an experimental murine colitis model

Susanne M. Brunner
Florian Reichmann
Barbara Kofler
ResearchOpen Access12 Jan 2021
Scientific Reports

Volume: 11, P: 1-15
Prognostic impact of secondary versus de novo ontogeny in acute myeloid leukemia is accounted for by the European LeukemiaNet 2022 risk classification

Michael J. Hochman
Megan Othus
Judith E. Karp
ResearchOpen Access31 Jul 2023
Leukemia

Volume: 37, P: 1915-1918
Efficacy and Safety of Olanzapine/Fluoxetine Combination vs Fluoxetine Monotherapy Following Successful Combination Therapy of Treatment-Resistant Major Depressive Disorder

Elizabeth Brunner
Mauricio Tohen
Michael E Thase
ResearchOpen Access07 May 2014
Neuropsychopharmacology

Volume: 39, P: 2549-2559
Lower Monoamine Oxidase-A Total Distribution Volume in Impulsive and Violent Male Offenders with Antisocial Personality Disorder and High Psychopathic Traits: An [¹¹C] Harmine Positron Emission Tomography Study

Nathan J Kolla
Brittany Matthews
Jeffrey H Meyer
Research17 Jun 2015
Neuropsychopharmacology

Volume: 40, P: 2596-2603
Multi-modal and multi-scale clinical retinal imaging system with pupil and retinal tracking

Muhammad Faizan Shirazi
Jordi Andilla
Michael Pircher
ResearchOpen Access10 Jun 2022
Scientific Reports

Volume: 12, P: 1-12
Implementation of safe infant sleep recommendations during night-time sleep in the first year of life in a German birth cohort

Vincent D. Gaertner
Sara Fill Malfertheiner
Sebastian Kerzel
ResearchOpen Access17 Jan 2023
Scientific Reports

Volume: 13, P: 1-10
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Sonja A de Munnik
Louise S Bicknell
Ernie M H F Bongers
Research15 Feb 2012
European Journal of Human Genetics

Volume: 20, P: 598-606
Programmed neurite degeneration in human central nervous system neurons driven by changes in NAD⁺ metabolism

Markus Brüll
Selina Multrus
Marcel Leist
ResearchOpen Access17 Jan 2025
Cell Death & Disease

Volume: 16, P: 1-14
Vaccinia as a vector for tumor-directed gene therapy: Biodistribution of a thymidine kinase-deleted mutant

Markus Puhlmann
Charles K Brown
David L Bartlett
Research18 May 2000
Cancer Gene Therapy

Volume: 7, P: 66-73
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Charlotte W. Ockeloen
Kriti D. Khandelwal
Carine E. L. Carels
Research10 Mar 2016
Genetics in Medicine

Volume: 18, P: 1158-1162
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart P. G. H. van der Sanden
Gaby Schobers
Lisenka E. L. M. Vissers
ResearchOpen Access16 Sept 2022
European Journal of Human Genetics

Volume: 31, P: 81-88
Epidemiology of 7375 children and adolescents hospitalized with COVID-19 in Germany, reported via a prospective, nationwide surveillance study in 2020–2022

Maren Doenhardt
Markus Hufnagel
Ulrich Zügge
ResearchOpen Access02 Jan 2024
Scientific Reports

Volume: 14, P: 1-15
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1337-1347
Factor H-related protein 1 (FHR-1) is associated with atherosclerotic cardiovascular disease

Sarah Irmscher
Svante L. H. Zipfel
Christine Skerka
ResearchOpen Access18 Nov 2021
Scientific Reports

Volume: 11, P: 1-15
Loss of the branched-chain amino acid transporter CD98hc alters the development of colonic macrophages in mice

CD98hc in macrophages attenuates the severity of colitis. This change in the macrophage development is associated with increased expression of apoptotic genes, suggesting that CD98hc maintains the gut homeostasis by ensuring the development of gut macrophages.

Philipp Wuggenig
Berna Kaya
Jan Hendrik Niess
ResearchOpen Access18 Mar 2020
Communications Biology

Volume: 3, P: 1-19
Multiple random phosphorylations in clock proteins provide long delays and switches

Abhishek Upadhyay
Daniela Marzoll
Hanspeter Herzel
ResearchOpen Access17 Dec 2020
Scientific Reports

Volume: 10, P: 1-13
IDLV-HIV-1 Env vaccination in non-human primates induces affinity maturation of antigen-specific memory B cells

Maria Blasi et al. report the anti-HIV-1 humoral response elicited in rhesus macaques following vaccination with an SIV-based integrase-defective lentiviral vector (IDLV). They find that a single IDLV-Env immunization induces continuous antibody avidity maturation and boosting with a heterologous HIV-1 Env results in lower peak antibody titers than autologous boost.

Maria Blasi
Donatella Negri
Mary E. Klotman
ResearchOpen Access05 Sept 2018
Communications Biology

Volume: 1, P: 1-13
Sulphur and carbon isotopes as tracers of past sub-seafloor microbial activity

Patrick Meister
Benjamin Brunner
Bo Barker Jørgensen
ResearchOpen Access24 Jan 2019
Scientific Reports

Volume: 9, P: 1-9
Long-read trio sequencing of individuals with unsolved intellectual disability

Marc Pauper
Erdi Kucuk
Christian Gilissen
ResearchOpen Access30 Nov 2020
European Journal of Human Genetics

Volume: 29, P: 637-648
Galanin is a potent modulator of cytokine and chemokine expression in human macrophages

Andreas Koller
Susanne Maria Brunner
Barbara Kofler
ResearchOpen Access10 May 2019
Scientific Reports

Volume: 9, P: 1-13
Pre-operative sera interleukin-6 in the diagnosis of high-grade serous ovarian cancer

Nirmala Chandralega Kampan
Mutsa Tatenda Madondo
Magdalena Plebanski
ResearchOpen Access10 Feb 2020
Scientific Reports

Volume: 10, P: 1-15
System immunology-based identification of blood transcriptional modules correlating to antibody responses in sheep

Roman Othmar Braun
Livia Brunner
Artur Summerfield
ResearchOpen Access03 Oct 2018
npj Vaccines

Volume: 3, P: 1-12
Sperm whale long-range echolocation sounds revealed by ANTARES, a deep-sea neutrino telescope

M. André
A. Caballé
J. Zuñiga
ResearchOpen Access12 Apr 2017
Scientific Reports

Volume: 7, P: 1-12
Laquinimod treatment in the R6/2 mouse model

Gisa Ellrichmann
Alina Blusch
Ralf Gold
ResearchOpen Access10 Jul 2017
Scientific Reports

Volume: 7, P: 1-13
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Thatjana Gardeitchik
Miski Mohamed
Eva Morava
Research21 Aug 2013
European Journal of Human Genetics

Volume: 22, P: 888-895

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