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Showing 51–100 of 137 results

Advanced filters: Author: M. Wieczorek Clear advanced filters

Design of Acquisition Schemes and Setup Geometry for Anisotropic X-ray Dark-Field Tomography (AXDT)

Y. Sharma
F. Schaff
T. Lasser
ResearchOpen Access09 Jun 2017
Scientific Reports

Volume: 7, P: 1-10
Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Luciana Musante
Hans G Kehl
Vera M Kalscheuer
Research14 Feb 2003
European Journal of Human Genetics

Volume: 11, P: 201-206
Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy

Dilated cardiomyopathy is the second most common cause for heart failure. Here the authors combine CRISPR base editors with the muscle-targeting viral vector AAVMYO to repair patient mutations in the cardiac splice factor Rbm20 in two mouse models.

Markus Grosch
Laura Schraft
Lars M. Steinmetz
ResearchOpen Access22 Jun 2023
Nature Communications

Volume: 14, P: 1-15
Ternary mixtures of ionic liquids for better salt solubility, conductivity and cation transference number improvement

E. Karpierz
L. Niedzicki
W. Wieczorek
ResearchOpen Access21 Oct 2016
Scientific Reports

Volume: 6, P: 1-8
Dysmorphology at a distance: results of a web-based diagnostic service

S Douzgou
J Clayton-Smith
M Zenker
Research10 Jul 2013
European Journal of Human Genetics

Volume: 22, P: 327-332
Safety and immunogenicity of Ad26 and MVA vaccines in acutely treated HIV and effect on viral rebound after antiretroviral therapy interruption

Test of therapeutic mosaic vaccines in HIV-infected individuals shows no control of virus after treatment interruption.

Donn J. Colby
Michal Sarnecki
Jintanat Ananworanich
Research23 Mar 2020
Nature Medicine

Volume: 26, P: 498-501
Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Siddharth Srivastava
Hartmut Engels
SakkuBai Naidu
Research08 Jul 2015
European Journal of Human Genetics

Volume: 24, P: 556-561
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

Ilse M van der Werf
Karin Buiting
R Frank Kooy
Research13 Jul 2016
European Journal of Human Genetics

Volume: 24, P: 1724-1729
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental retardation and epilepsy. GRIN2A and GRIN2B encode regulatory subunits of N-methyl-D-aspartate (NMDA) receptors, which mediate excitatory neurotransmission in the brain.

Sabine Endele
Georg Rosenberger
Kerstin Kutsche
Research03 Oct 2010
Nature Genetics

Volume: 42, P: 1021-1026
Measurements of ultrafast spin-profiles and spin-diffusion properties in the domain wall area at a metal/ferromagnetic film interface

T. Sant
D. Ksenzov
C. Gutt
ResearchOpen Access08 Nov 2017
Scientific Reports

Volume: 7, P: 1-7
ANCA-associated vasculitides—advances in pathogenesis and treatment

ANCA-associated vasculitides (AAV) involve inflammation and fibrinoid necrosis of the vessel wall. This Review highlights advances in our understanding of the cells and molecules that contribute to AAV pathogenesis and discusses new developments in the treatment of these diseases.

Min Chen
Cees G. M. Kallenberg
Reviews05 Oct 2010
Nature Reviews Rheumatology

Volume: 6, P: 653-664
The laminin-derived peptide YIGSR (Tyr–Ile–Gly–Ser–Arg) inhibits human pre-B leukaemic cell growth and dissemination to organs in SCID mice

N Yoshida
E Ishii
S Miyazaki
ResearchOpen Access30 Jul 1999
British Journal of Cancer

Volume: 80, P: 1898-1904
IMMUNOPHENOTYPE OF CHILDHOOD ACUTE LYMPHO-BLASTIC LEUKEMIA - IMPLICATION FOR THE DETE-CTION OF MINIMAL RESIDUAL DISEASE 147

T Szczepanski
B Mazur
D Sonta-Jakimczyk
Research01 May 1997
Pediatric Research

Volume: 41, P: 775
Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert
Martin Zenker
Christian P Kratz
Research12 Feb 2006
Nature Genetics

Volume: 38, P: 331-336
Mammalian body size is determined by interactions between climate, urbanization, and ecological traits

Anthropogenically-driven climate change is responsible for body size decreases in mammals. Using an important dataset of historically-collected data and data from continental-scale survey efforts from the National Ecological Observatory Network, Hantak et al. show that urbanization plays an important role in mediating this dynamic.

Maggie M. Hantak
Bryan S. McLean
Robert P. Guralnick
ResearchOpen Access16 Aug 2021
Communications Biology

Volume: 4, P: 1-10
Body size trends in response to climate and urbanization in the widespread North American deer mouse, Peromyscus maniculatus

Robert Guralnick
Maggie M. Hantak
Bryan S. McLean
ResearchOpen Access01 Jun 2020
Scientific Reports

Volume: 10, P: 1-13
MIReAD, a minimum information standard for reporting arthropod abundance data

Samuel S. C. Rund
Kyle Braak
Samraat Pawar
ResearchOpen Access25 Apr 2019
Scientific Data

Volume: 6, P: 1-8
P-glycoprotein expression in normal and reactive bone marrows

S Hegewisch-Becker
M Fliegner
DK Hossfeld
Research01 Mar 1993
British Journal of Cancer

Volume: 67, P: 430-435
P-glycoprotein and glutathione S-transferase pi in childhood acute lymphoblastic leukaemia

A Sauerbrey
F Zintl
M Volm
Research01 Dec 1994
British Journal of Cancer

Volume: 70, P: 1144-1149
Multidrug resistance circumvention by a new triazinoaminopiperidine derivative S9788 in vitro: definition of the optimal schedule and comparison with verapamil

A-M Julia
H Roché
P Canal
Research01 May 1994
British Journal of Cancer

Volume: 69, P: 868-874
Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies

Erwin Petek
Christian Windpassinger
Peter M. Kroisel
Research24 Apr 2003
Journal of Human Genetics

Volume: 48, P: 283-287
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Eamonn Sheridan, Elizabeth Ross and colleagues report discovery of a new megalencephaly syndrome caused by de novo missense mutations in CCND2. They show that these mutations lead to stabilization of cyclin D2, and they present evidence that cyclin D2 stabilization may be a common downstream mechanism in PI3K-AKT–associated megalencephaly syndromes.

Ghayda M Mirzaa
David A Parry
Eamonn G Sheridan
Research06 Apr 2014
Nature Genetics

Volume: 46, P: 510-515
Integrative knowledge-based nitrogen management practices can provide positive effects on ecosystem nitrogen retention

Understanding the general responses of soil gross N cycling to commonly used knowledge-based N management practices on a global scale could help predict ecosystem N retention capacity and subsequent N losses. This global meta-analysis provides evidence for different responses of soil N cycling rates and N losses and associated soil properties to various knowledge-based N management practices.

Ahmed S. Elrys
Jing Wang
Yi Cheng
Research05 Dec 2023
Nature Food

Volume: 4, P: 1075-1089
Overexpression of tumor necrosis factor (TNF)-α and interferon (IFN)-γ by bone marrow cells from patients with myelodysplastic syndromes

M Kitagawa
I Saito
K Hirokawa
Research01 Dec 1997
Leukemia

Volume: 11, P: 2049-2054
Localization of Fas and Fas ligand in bone marrow cells demonstrating myelodysplasia

M Kitagawa
S Yamaguchi
R Kamiyama
Research08 May 1998
Leukemia

Volume: 12, P: 486-492
Quantification of cellular adhesion molecules on malignant B cells from non-Hodgkin’s lymphoma

M-C Jacob
S Agrawal
J Plumas
Research09 Sept 1999
Leukemia

Volume: 13, P: 1428-1433
The impact of ammonia on particle formation in the Asian Tropopause Aerosol Layer

Christos Xenofontos
Matthias Kohl
Theodoros Christoudias
ResearchOpen Access12 Sept 2024
npj Climate and Atmospheric Science

Volume: 7, P: 1-12
Allele replacement: an application that permits rapid manipulation of herpes simplex virus type 1 genomes

B C Horsburgh
M M Hubinette
F Tufaro
Research14 May 1999
Gene Therapy

Volume: 6, P: 922-930
Defining immune reset: achieving sustained remission in autoimmune diseases

New immunotherapies have the potential to mediate a sustained remission from certain autoimmune diseases. This has been referred to as achieving an ‘immune reset’ in patients. Here, Junt and colleagues discuss how we can most accurately define the term immune reset and explain the challenges in identifying suitable biomarkers of long-term disease remission.

Tobias Junt
Thomas Calzascia
Richard M. Siegel
Reviews05 Mar 2025
Nature Reviews Immunology

Volume: 25, P: 528-541
Initial results from the InSight mission on Mars

Geophysical and meteorological measurements by NASA’s InSight lander on Mars reveal a planet that is seismically active and provide information about the interior, surface and atmospheric workings of Mars.

W. Bruce Banerdt
Suzanne E. Smrekar
Mark Wieczorek
Reviews24 Feb 2020
Nature Geoscience

Volume: 13, P: 183-189
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations

Hiromi Ogura
Shouichi Ohga
Hitoshi Kanno
ResearchOpen Access27 Nov 2020
Human Genome Variation

Volume: 7, P: 1-4
Variability in diagnostic threshold for comedo necrosis among breast pathologists: implications for patient eligibility for active surveillance trials of ductal carcinoma in situ

Beth T. Harrison
E. Shelley Hwang
Stuart J. Schnitt
Research12 Apr 2019
Modern Pathology

Volume: 32, P: 1257-1262
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

Johanna Schäfgen
Kirsten Cremer
Hartmut Engels
Research20 Jul 2016
European Journal of Human Genetics

Volume: 24, P: 1739-1745
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

Jasmin Beygo
Ivana Joksic
Karin Buiting
Research03 Feb 2016
European Journal of Human Genetics

Volume: 24, P: 1280-1286
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Dana E. Layo-Carris
Emily E. Lubin
Laura M. Bryant
ResearchOpen Access27 Apr 2024
European Journal of Human Genetics

Volume: 32, P: 928-937
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Frederic Tran Mau-Them
Marjolaine Willems
David Genevieve
Research15 May 2013
European Journal of Human Genetics

Volume: 22, P: 289-292
Characterisation of a navelbine-resistant bladder carcinoma cell line cross-resistant to taxoids

V Debal
N Allam
M Manfait
Research01 Dec 1994
British Journal of Cancer

Volume: 70, P: 1118-1125
Canalised and plastic components of melanin-based colouration: a diet-manipulation experiment in house sparrows

Agnieszka Gudowska
Katarzyna Janas
Szymon M. Drobniak
ResearchOpen Access02 Nov 2022
Scientific Reports

Volume: 12, P: 1-10
Fluorine-free electrolytes for all-solid sodium-ion batteries based on percyano-substituted organic salts

Anna Bitner-Michalska
Gene M. Nolis
Władysław Wieczorek
ResearchOpen Access09 Jan 2017
Scientific Reports

Volume: 7, P: 1-10
A SARS-CoV-2 spike ferritin nanoparticle vaccine protects hamsters against Alpha and Beta virus variant challenge

Kathryn McGuckin Wuertz
Erica K. Barkei
Kayvon Modjarrad
ResearchOpen Access28 Oct 2021
npj Vaccines

Volume: 6, P: 1-11
Importance of suspended particulate organic matter in the diet of Nephrops norvegicus (Linnaeus, 1758)

Cesar Augusto da Silva Santana
Alina M. Wieczorek
Anne Marie Power
ResearchOpen Access25 Feb 2020
Scientific Reports

Volume: 10, P: 1-11
Identification of risk groups for mental disorders, headache and oral behaviors in adults during the COVID-19 pandemic

Mieszko Wieckiewicz
Dariusz Danel
Gniewko Wieckiewicz
ResearchOpen Access26 May 2021
Scientific Reports

Volume: 11, P: 1-14
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez
Béryl Laplace-Builhé
David Geneviève
ResearchOpen Access24 Oct 2019
Genetics in Medicine

Volume: 22, P: 547-556
Invasive lobular carcinoma with extracellular mucin (ILCEM): clinicopathologic and molecular characterization of a rare entity

T. Rinda Soong
Deborah A. Dillon
Beth T. Harrison
Research27 Apr 2022
Modern Pathology

Volume: 35, P: 1370-1382
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Mio Aerden
Anne-Sophie Denommé-Pichon
Hilde Van Esch
Research07 Feb 2023
European Journal of Human Genetics

Volume: 31, P: 461-468
Early infections in patients undergoing bone marrow or blood stem cell transplantation – a 7 year single centre investigation of 409 cases

W Krüger
B Rüssmann
AR Zander
Research05 Mar 1999
Bone Marrow Transplantation

Volume: 23, P: 589-597
Reduced Dopamine Terminal Function and Insensitivity to Cocaine Following Cocaine Binge Self-Administration and Deprivation

Yolanda Mateo
Christopher M Lack
Sara R Jones
Research09 Feb 2005
Neuropsychopharmacology

Volume: 30, P: 1455-1463
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Alma Kuechler
Alexander M Zink
Hartmut Engels
Research20 Aug 2014
European Journal of Human Genetics

Volume: 23, P: 753-760
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

Jasmin Beygo
Alma Küchler
Karin Buiting
Research21 Jun 2017
European Journal of Human Genetics

Volume: 25, P: 935-945
Bcr-abl-positive cells secrete angiogenic factors including matrix metalloproteinases and stimulate angiogenesis in vivo in Matrigel implants

A Janowska-Wieczorek
M Majka
MZ Ratajczak
Research05 Jun 2002
Leukemia

Volume: 16, P: 1160-1166

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