Nature Search

A fragment of the SV40 large T-antigen gene transforms

Christine E. Clayton
David Murphy
Peter W. J. Rigby
Research01 Sept 1982
Nature

Volume: 299, P: 59-61
Therapeutic targeting of mismatch repair-deficient cancers

This comprehensive Review describes the biological function of the mismatch repair (MMR) machinery, the genomic sequelae of defects in this machinery and the roles of hereditary or sporadic MMR deficiency in cancer predisposition and/or tumour development. The authors also discuss the clinical implications of MMR deficiency with a specific focus on diagnostic approaches, therapeutic strategies and mechanisms of resistance to immune-checkpoint inhibitors.

Paul Johannet
Benoit Rousseau
Luis A. Diaz Jr.
Reviews10 Jul 2025
Nature Reviews Clinical Oncology

Volume: 22, P: 734-759
An integrated encyclopedia of DNA elements in the human genome

This overview of the ENCODE project outlines the data accumulated so far, revealing that 80% of the human genome now has at least one biochemical function assigned to it; the newly identified functional elements should aid the interpretation of results of genome-wide association studies, as many correspond to sites of association with human disease.

Ian Dunham
Anshul Kundaje
Ewan Birney
ResearchOpen Access05 Sept 2012
Nature

Volume: 489, P: 57-74
A quickening on the uptake?

Michael Bender
News & Views16 May 1996
Nature

Volume: 381, P: 195-196
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Kirk B. Lane
Rajiv D. Machado
Richard C. Trembath
Research01 Sept 2000
Nature Genetics

Volume: 26, P: 81-84
New take on the Red Queen

Biologists have assumed that natural selection shapes larger patterns of evolution through interactions such as competition and predation. These patterns may instead be determined by rare, stochastic speciation.

Michael J. Benton
News & Views20 Jan 2010
Nature

Volume: 463, P: 306-307
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

The next step after sequencing a genome is to figure out how the cell actually uses it as an instruction manual. A large international consortium has examined 1% of the genome for what part is transcribed, where proteins are bound, what the chromatin structure looks like, and how the sequence compares to that of other organisms.

Ewan Birney
John A. Stamatoyannopoulos
Pieter J. de Jong
Research14 Jun 2007
Nature

Volume: 447, P: 799-816
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and identify likely causal variants in GDF2, ATP13A3, AQP1 and SOX17.

Stefan Gräf
Matthias Haimel
Nicholas W. Morrell
ResearchOpen Access12 Apr 2018
Nature Communications

Volume: 9, P: 1-16
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

Louise M Downey
T Jeffrey Keen
Chris F Inglehearn
Research03 Dec 2002
European Journal of Human Genetics

Volume: 10, P: 865-869
Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari
Andrew D Paterson
Andy Shih
Research18 Feb 2007
Nature Genetics

Volume: 39, P: 319-328
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo
Brian C. Schutte
Jeffrey C. Murray
Research03 Sept 2002
Nature Genetics

Volume: 32, P: 285-289
Molecular classification of papillary thyroid carcinoma: distinct BRAF, RAS, and RET/PTC mutation-specific gene expression profiles discovered by DNA microarray analysis

Thomas J Giordano
Rork Kuick
Yuri E Nikiforov
Research27 Jun 2005
Oncogene

Volume: 24, P: 6646-6656

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A fragment of the SV40 large T-antigen gene transforms

Therapeutic targeting of mismatch repair-deficient cancers

An integrated encyclopedia of DNA elements in the human genome

A quickening on the uptake?

Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

New take on the Red Queen

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Molecular classification of papillary thyroid carcinoma: distinct BRAF, RAS, and RET/PTC mutation-specific gene expression profiles discovered by DNA microarray analysis

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