Nature Search

Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation

MSH2mutations are associated with the development of colorectal cancer and are a common cause of Lynch syndrome. Jeans et al. describe the case of a 37-year-old woman with a germline MSH2mutation who developed rectal adenocarcinoma and 7 years later presented with a primitive neuroectodermal tumor. The authors suggest that diagnosis of Lynch syndrome should be considered in cases where individuals with previous malignancies associated with this syndrome present with cerebral tumors.

Alexander F. Jeans
Ian Frayling
Olaf Ansorge
Reviews01 May 2009
Nature Reviews Clinical Oncology

Volume: 6, P: 295-299
Deep topographic proteomics of a human brain tumour

Ultrasensitive, spatially-resolved proteomics techniques allow mapping the organisation of healthy and diseased tissues. Here, the authors develop a workflow for spatially-resolved, quantitative tissue proteomics with spatially aware statistics and clustering, with which they characterise a human atypical teratoid-rhabdoid tumour at different spatial resolutions.

Simon Davis
Connor Scott
Roman Fischer
ResearchOpen Access24 Nov 2023
Nature Communications

Volume: 14, P: 1-15
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

Migraine headaches are a debilitating condition that affect many individuals. Now, Guy Rouleau and his colleagues link loss-of-function mutations in a potassium channel protein with a particular migraine syndrome in humans.

Ronald G Lafrenière
M Zameel Cader
Guy A Rouleau
Research26 Sept 2010
Nature Medicine

Volume: 16, P: 1157-1160
A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer’s disease

Vascular pathology may play important early role in Alzheimer’s disease (AD). Here, the authors show that β-amyloid induces transcriptomic signatures associated with accelerated apoptosis, impaired function and AD risk in human brain microvasculature.

Stergios Tsartsalis
Hannah Sleven
Paul M. Matthews
ResearchOpen Access12 Mar 2024
Nature Communications

Volume: 15, P: 1-19
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Whole-genome sequence analysis identifies five independent risk loci for Lewy body dementia and demonstrates overlapping genetic architecture with Alzheimer’s and Parkinson’s diseases.

Ruth Chia
Marya S. Sabir
Sonja W. Scholz
Research15 Feb 2021
Nature Genetics

Volume: 53, P: 294-303
Establishment of human iPSC-based models for the study and targeting of glioma initiating cells

Glioma can originate from the transformation of neural progenitor cells into glioma initiating cells. Here, the authors demonstrate the use of induced pluripotent stem cells as a suitable model for generating neural progenitor cells, which can be subsequently transformed to glioma initiating cells that are able to the generate human glioma-like tumours in mice.

Ignacio Sancho-Martinez
Emmanuel Nivet
Juan Carlos Izpisua Belmonte
ResearchOpen Access22 Feb 2016
Nature Communications

Volume: 7, P: 1-14
Copy number architectures define treatment-mediated selection of lethal prostate cancer clones

The heterogeneity of androgen receptor (AR) gene alterations across metastases in prostate cancer remains unresolved. Here, the authors characterise AR genomic complexity across spatially separated lethal metastases from 10 prostate cancer patients and investigate how AR alterations evolve.

A. M. Mahedi Hasan
Paolo Cremaschi
Gerhardt Attard
ResearchOpen Access10 Aug 2023
Nature Communications

Volume: 14, P: 1-16
Type 1 IGF receptor associates with adverse outcome and cellular radioresistance in paediatric high-grade glioma

Aaron D. Simpson
Ying Wei Jenetta Soo
Valentine M. Macaulay
ResearchOpen Access20 Dec 2019
British Journal of Cancer

Volume: 122, P: 624-629
Non-neuronal cells in amyotrophic lateral sclerosis — from pathogenesis to biomarkers

The failure to identify disease-modifying therapies for amyotrophic lateral sclerosis (ALS) could relate to the prevailing motor neuron-centric view of this neurodegenerative disorder. This Review considers the evidence for involvement of non-neuronal cells — in particular, microglia, astrocytes and oligodendrocytes — in ALS pathogenesis.

Björn F. Vahsen
Elizabeth Gray
Martin R. Turner
Reviews29 Apr 2021
Nature Reviews Neurology

Volume: 17, P: 333-348
Frequency and signature of somatic variants in 1461 human brain exomes

Wei Wei
Michael J. Keogh
Patrick F. Chinnery
ResearchOpen Access14 Sept 2018
Genetics in Medicine

Volume: 21, P: 904-912

Search

Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation

Deep topographic proteomics of a human brain tumour

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer’s disease

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Establishment of human iPSC-based models for the study and targeting of glioma initiating cells

Copy number architectures define treatment-mediated selection of lethal prostate cancer clones

Type 1 IGF receptor associates with adverse outcome and cellular radioresistance in paediatric high-grade glioma

Non-neuronal cells in amyotrophic lateral sclerosis — from pathogenesis to biomarkers

Frequency and signature of somatic variants in 1461 human brain exomes

Search

Quick links

Search

Filter By:

Search

Quick links