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Leibnitz's Mathematics

THOMAS MUIR
Research27 Mar 1879
Nature

Volume: 19, P: 482-483
Antiquity of Man

THOMAS BELT
Research28 Jun 1877
Nature

Volume: 16, P: 162-163
Author Correction: miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

Mathilde Sanson
Ai Vu Hong
David Israeli
Amendments and CorrectionsOpen Access28 Mar 2024
Scientific Reports

Volume: 14, P: 1
Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation

Kris Ann P. Schultz
Alexander Nelson
D. Ashley Hill
Research15 May 2020
Modern Pathology

Volume: 33, P: 1922-1929
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy

Duchenne muscular dystrophy is a progressive degenerative disease of muscles caused by mutations in the dystrophin gene. Here the authors use AAV vectors to deliver microdystrophin to dogs with muscular dystrophy, and show restoration of dystrophin expression and reduction of symptoms up to 26 months of age.

Caroline Le Guiner
Laurent Servais
George Dickson
ResearchOpen Access25 Jul 2017
Nature Communications

Volume: 8, P: 1-15
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Drugs targeting myostatin reverse muscle wasting in animal models, but have limited efficacy in patients. The authors show that the myostatin pathway is downregulated in patients, possibly explaining the poor outcome of anti-myostatin approaches, and that it can be reactivated by correcting disease-causing mutations in mice.

Virginie Mariot
Romain Joubert
Julie Dumonceaux
ResearchOpen Access30 Nov 2017
Nature Communications

Volume: 8, P: 1-8
Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice

Hereditary hypertrophic cardiomyopathy (HCM) is caused by mutations in cardiomyocyte genes, such as MYBPC3. Here, the authors use virus-mediated gene therapy to correct Mycbpc3mutations in 1-day-old mice and, by administering just a single dose, prevent development of HCM over a period of 34 weeks.

Giulia Mearini
Doreen Stimpel
Lucie Carrier
Research02 Dec 2014
Nature Communications

Volume: 5, P: 1-10
Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy

A digital biomarker derived from a multisensor bodysuit that monitors whole-body movement while individuals perform everyday activities can predict disease progression in Duchenne muscular dystrophy.

Valeria Ricotti
Balasundaram Kadirvelu
A. Aldo Faisal
ResearchOpen Access19 Jan 2023
Nature Medicine

Volume: 29, P: 95-103
Reverse TCR repertoire evolution toward dominant low-affinity clones during chronic CMV infection

Busch and colleagues use single-cell and bulk TCR sequencing and structural affinity analyses of CMV-specific T cells to show that the immunodominance of high-affinity T cell clones declines during chronic infection with CMV, likely due to cellular senescence.

Kilian Schober
Florian Voit
Dirk H. Busch
Research16 Mar 2020
Nature Immunology

Volume: 21, P: 434-441
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Yanick J Crow
Bruce E Hayward
Tomas Lindahl
Research16 Jul 2006
Nature Genetics

Volume: 38, P: 917-920
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek
Michael Krieger
Klaus Zerres
Research13 Nov 2005
Nature Genetics

Volume: 37, P: 1312-1314
A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia

Full-body movements captured using a multisensor body suit predict the clinical trajectory of patients with Friedreichʼs ataxia, providing digital biomarkers of disease progression.

Balasundaram Kadirvelu
Constantinos Gavriel
A. Aldo Faisal
ResearchOpen Access19 Jan 2023
Nature Medicine

Volume: 29, P: 86-94
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J Crow
Andrea Leitch
Andrew P Jackson
Research16 Jul 2006
Nature Genetics

Volume: 38, P: 910-916
Transformation by the simian virus 40 T antigen is regulated by IGF-I receptor and IRS-1 signaling

T DeAngelis
J Chen
R Baserga
Research19 Sept 2005
Oncogene

Volume: 25, P: 32-42
Assessment of human energy exchange: historical overview

S B Heymsfield
B Bourgeois
D M Thomas
Reviews23 Nov 2016
European Journal of Clinical Nutrition

Volume: 71, P: 294-300
Defective protein glycosylation in patients with cutis laxa syndrome

Eva Morava
Suzan Wopereis
Stephanie Grünewald
Research19 Jan 2005
European Journal of Human Genetics

Volume: 13, P: 414-421
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Vilma-Lotta Lehtokari
Katarina Pelin
Carina Wallgren-Pettersson
Research02 Apr 2008
European Journal of Human Genetics

Volume: 16, P: 1055-1061
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Kevin Campbell and colleagues identify mutations in ISPD as a cause of Walker-Warburg syndrome (WWS) using a complementation assay in fibroblasts derived from affected individuals and targeted sequencing. They find that loss-of-function mutations in ISPD disrupt dystroglycan O-mannosylation, suggesting a new disease mechanism.

Tobias Willer
Hane Lee
Kevin P Campbell
Research22 Apr 2012
Nature Genetics

Volume: 44, P: 575-580
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Frank Baas and colleagues report mutations in three of the four subunits of the tRNA-splicing endonuclease complex in families with two subtypes of pontocerebellar hypoplasia. The findings implicate tRNA processing in neurological disorders.

Birgit S Budde
Yasmin Namavar
Frank Baas
Research17 Aug 2008
Nature Genetics

Volume: 40, P: 1113-1118
36-month durability of ultrasound renal denervation for hypertension resistant to combination therapy in RADIANCE-HTN TRIO

Michael J. Bloch
Ajay J. Kirtane
Patric Kröpil
ResearchOpen Access27 Sept 2024
Hypertension Research

Volume: 47, P: 3467-3472
Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers

Use of a new generation anti-sense oligonucleotide to target exon skipping in multiple organ systems in two mouse models of muscular dystrophy

Aurélie Goyenvalle
Graziella Griffith
Luis Garcia
Research02 Feb 2015
Nature Medicine

Volume: 21, P: 270-275
Role of pescadillo in the transformation and immortalization of mammalian cells

Arianna Maiorana
Xiao Tu
Renato Baserga
Research26 Jul 2004
Oncogene

Volume: 23, P: 7116-7124
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Marina Mora
Corrado Angelini
Hanns Lochmüller
ReviewsOpen Access24 Dec 2014
European Journal of Human Genetics

Volume: 23, P: 1116-1123
Cytokine-responsive T- and NK-cells portray SARS-CoV-2 vaccine-responders and infection in multiple myeloma patients

Julius C. Enssle
Julia Campe
Evelyn Ullrich
ResearchOpen Access04 Dec 2023
Leukemia

Volume: 38, P: 168-180
Wheat Kernel Ingestion Protects from Progression of Muscle Weakness in mdx Mice, an Animal Model of Duchenne Muscular Dystrophy

Christoph Hübner
Hans-Anton Lehr
Alfried Kohlschütter
Research01 Sept 1996
Pediatric Research

Volume: 40, P: 444-449
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia

Lena Willkomm
Raul Heredia
Sebahattin Cirak
Research18 Feb 2016
Journal of Human Genetics

Volume: 61, P: 571-573
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

Mathilde Sanson
Ai Vu Hong
David Israeli
ResearchOpen Access04 Jun 2020
Scientific Reports

Volume: 10, P: 1-17
Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1

Christine Schwartz
Martina Fischer
Catherine Coirault
ResearchOpen Access28 Apr 2017
Scientific Reports

Volume: 7, P: 1-14
SIRT7: an influence factor in healthy aging and the development of age-dependent myeloid stem-cell disorders

Alexander Kaiser
Martin Schmidt
Thomas Ernst
ResearchOpen Access25 Mar 2020
Leukemia

Volume: 34, P: 2206-2216
The contradictions of the insulin-like growth factor 1 receptor

Renato Baserga
Research20 Nov 2000
Oncogene

Volume: 19, P: 5574-5581
Statistical biases due to anonymization evaluated in an open clinical dataset from COVID-19 patients

Carolin E. M. Koll
Sina M. Hopff
O. Witzke
ResearchOpen Access21 Dec 2022
Scientific Data

Volume: 9, P: 1-15

Search

Leibnitz's Mathematics

Antiquity of Man

Author Correction: miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation

Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice

Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy

Reverse TCR repertoire evolution toward dominant low-affinity clones during chronic CMV infection

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Transformation by the simian virus 40 T antigen is regulated by IGF-I receptor and IRS-1 signaling

Assessment of human energy exchange: historical overview

Defective protein glycosylation in patients with cutis laxa syndrome

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

36-month durability of ultrasound renal denervation for hypertension resistant to combination therapy in RADIANCE-HTN TRIO

Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers

Role of pescadillo in the transformation and immortalization of mammalian cells

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Cytokine-responsive T- and NK-cells portray SARS-CoV-2 vaccine-responders and infection in multiple myeloma patients

Wheat Kernel Ingestion Protects from Progression of Muscle Weakness in mdx Mice, an Animal Model of Duchenne Muscular Dystrophy

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia

miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1

SIRT7: an influence factor in healthy aging and the development of age-dependent myeloid stem-cell disorders

The contradictions of the insulin-like growth factor 1 receptor

Statistical biases due to anonymization evaluated in an open clinical dataset from COVID-19 patients

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