|
|
|
A whole genome association study of mother-to-child transmission of HIV in Malawi
Bonnie
R
Joubert,
Ethan
M
Lange,
Nora
Franceschini,
Victor
Mwapasa,
Kari
E
North,
Steven
R
Meshnick,
The
NIAID Center for HIV/AIDS Vaccine Immunology
Genome Medicine 2010, 2:17 (1 March 2010)
Abstract |
Provisional PDF
| Editor’s summary
Mother-to-child HIV transmission in Malawian infants is associated with nine single nucleotide polymorphisms in six genes with roles in pregnancy, development, innate immunity and HIV-protein interaction.
|
|
|
|
Collaboratively charting the gene-to-phenotype network of human congenital heart defects
Roland
Barriot,
Jeroen
Breckpot,
Bernard
Thienpont,
Sylvain
Brohée,
Steven
Van Vooren,
Bert
Coessens,
Leon-Charles
Tranchevent,
Peter
Van Loo,
Marc
Gewillig,
Koenraad
Devriendt,
Yves
Moreau
Genome Medicine 2010, 2:16 (1 March 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
The development of a specialized portal for collaborative annotation and analysis of gene-phenotype networks in congenital heart defects using a Wiki platform highlights this technology’s potential for systems biology studies of other complex biological processes.
|
|
|
|
Coping with antibiotic resistance: contributions from genomics
Gian
Rossolini,
Maria
Thaller
Genome Medicine 2010, 2:15 (25 February 2010)
Abstract |
Full text |
PDF
| Editor’s summary
Bacterial genomics is helping to tackle antibiotic resistance by identifying new targets and increasing our understanding of resistance mechanisms.
|
|
|
|
Developmental origins of health and disease: reducing the burden of chronic disease in the next generation
Peter
D
Gluckman,
Mark
A
Hanson,
Murray
D
Mitchell
Genome Medicine 2010, 2:14 (24 February 2010)
Abstract |
Full text |
PDF
| Editor’s summary
There is an unwillingness among public health decision makers to implement approaches based on evidence that environmental factors in early life can affect disease vulnerability in later life.
|
|
|
|
Pharmacogenomics and personalized medicine: lost in translation?
Jean-Sébastien
Hulot
Genome Medicine 2010, 2:13 (22 February 2010)
Abstract |
Full text |
PDF
| Editor’s summary
A report on the Joint Cold Spring Harbor/Wellcome Trust Conference 'Pharmacogenomics & Personalized Medicine', Hinxton, UK, 12-15 September 2009.
|
|
|
|
Non-coding RNAs: a key to future personalized molecular therapy?
Marco
Galasso,
Maria
Elena Sana,
Stefano
Volinia
Genome Medicine 2010, 2:12 (18 February 2010)
Abstract |
Full text |
PDF
| Editor’s summary
Non-coding RNAs such as microRNAs and small nucleolar RNAs are implicated in human diseases ranging from cancer to neurodegenerative and metabolic diseases and offer new avenues for the development of non-invasive diagnostics and molecular therapies.
|
|
|
|
Inversion variants in the human genome: role in disease and genome architecture
Lars
Feuk
Genome Medicine 2010, 2:11 (12 February 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
While paired-end sequencing approaches have allowed the identification and mapping of inversions across the human genome, further characterization of inversion variants is required to advance our understanding of human variation and genome dynamics.
|
|
|
|
Multi-locus models of genetic risk of disease
Naomi
R
Wray,
Michael
E
Goddard
Genome Medicine 2010, 2:10 (2 February 2010)
Abstract |
Provisional PDF
| PubMed
| Editor’s summary
The widely accepted unconstrained multiplicative model which combines genome wide association data for overall risk calculation is not realistic, while other models more compatible with the data are indistinguishable using currently available observed parameters.
|
|
|
|
Integration of microRNA changes in vivo identifies novel molecular features of muscle insulin resistance in type 2 diabetes
Iain
J
Gallagher,
Camilla
Scheele,
Pernille
Keller,
Anders
R
Nielsen,
Judit
Remenyi,
Christian
P
Fischer,
Karim
Roder,
John
Babraj,
Claes
Wahlestedt,
Gyorgy
Hutvagner,
Bente
K
Pedersen,
James
A
Timmons
Genome Medicine 2010, 2:9 (1 February 2010)
Abstract |
Full text |
PDF
| Editor’s summary
Muscle mRNA expression is invariant with respect to diabetes status, but coordinated changes in numerous microRNAs may control protein abundance and affect skeletal muscle insulin resistance, a critical component of the disease.
|
|
|
|
Downstream EWS/FLI1 - upstream Ewing's sarcoma
Heinrich
Kovar
Genome Medicine 2010, 2:8 (28 January 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Ewing's sarcoma family tumors express the fusion protein EWS/FLI1, modulation of which is a desirable therapeutic goal.
|
|
|
|
Musings on genome medicine: Hepatitis C
David
G
Nathan,
Stuart
H
Orkin
Genome Medicine 2010, 2:4 (27 January 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Recent advances in our understanding of the genetics of response to interferon treatment are intriguing, but further research is necessary before we can achieve a true cure for hepatitis C.
|
|
|
|
Recent advances in the genetics of language impairment
Dianne
F
Newbury,
Simon
E
Fisher,
Anthony
P
Monaco
Genome Medicine 2010, 2:6 (26 January 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Four genes involved in specific language impairment have now been identified, highlighting a variety of neural pathways which contribute to the disorder.
|
|
|
|
Genome informatics: advances in theory and practice
Szu-chin
Fu,
Paul
Horton
Genome Medicine 2010, 2:7 (26 January 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
A report on the 20th International Conference on Genome Informatics, Yokohama, Japan, 14-16 December 2009.
|
|
|
|
Genomic variants associated with primary biliary cirrhosis
Carlo
Selmi,
Natalie
J
Torok,
Andrea
Affronti,
M Eric
Gershwin
Genome Medicine 2010, 2:5 (26 January 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Association of primary biliary cirrhosis with many genetic variants has not greatly improved our understanding of the disease, but epigenomic and microRNA research may provide more answers.
|
|
|
|
The 1000 Genomes Project: new opportunities for research and social challenges
Marc
Via,
Christopher
Gignoux,
Esteban
Burchard
Genome Medicine 2010, 2:3 (21 January 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Safeguarding against ethical and privacy concerns will help clinical research to benefit from the 1000 Genomes Project.
|
|
|
|
Family-based genetic risk prediction of multifactorial disease
Douglas
M
Ruderfer,
Joshua
Korn,
Shaun
M
Purcell
Genome Medicine 2010, 2:2 (15 January 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Inclusion of phenotypic and genotypic information from close relatives in a genetic risk prediction model can lead to improved estimates of an individual’s disease risk.
|
|
|
|
Using transcriptomics to identify and validate novel biomarkers of human skeletal muscle cancer cachexia
Nathan
A
Stephens,
Iain
J
Gallagher,
Olav
Rooyackers,
Richard
J
Skipworth,
Ben
H
Tan,
Troels
Marstrand,
James
A
Ross,
Denis
C
Guttridge,
Lars
Lundell,
Kenneth
C
Fearon,
James
A
Timmons
Genome Medicine 2010, 2:1 (15 January 2010)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
An 83-gene signature for cachexia in cancer patients includes genes such as CaMKII and TIE1 and suggests that preclinical models do not accurately reflect biological processes in human cancer cachexia.
|
|
|
|
What lies behind serum urate concentration? Insights from genetic and genomic studies
Kimiyoshi
Ichida
Genome Medicine 2009, 1:118 (29 December 2009)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Recent genome-wide studies have identified novel candidate genes related to urate metabolism and transport, but their physiological roles and the influence of environmental factors remain unclear.
|
|
|
|
Pharmacogenomic insights into treatment and management of statin-induced myopathy
Bas
JM
Peters,
Olaf
H
Klungel,
Frank
L
Visseren,
Anthonius
de Boer,
Anke-Hilse
Maitland-van der Zee
Genome Medicine 2009, 1:120 (29 December 2009)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Genotyping in patients suffering from statin-induced myopathy may help to personalize the choice of statin by reducing the chance of developing this rare but serious side-effect.
|
|
|
|
Human genomics and preparedness for infectious threats
Nicole
F
Dowling,
Marta
Gwinn,
Alison
Mawle
Genome Medicine 2009, 1:119 (29 December 2009)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Research activity during infectious disease outbreaks maximizes limited resources, enhances gains in scientific knowledge, and ultimately increases levels of preparedness.
|
|
|
|
Postmenopausal estrogen and progestin effects on the serum proteome
Sharon
J
Pitteri,
Samir
M
Hanash,
Aaron
Aragaki,
Lynn
M
Amon,
Lin
Chen,
Tina
Busald Buson,
Sophie
Paczesny,
Hiroyuki
Katayama,
Hong
Wang,
Melissa
M
Johnson,
Qing
Zhang,
Martin
McIntosh,
Pei
Wang,
Charles
Kooperberg,
Jacques
E
Rossouw,
Rebecca
D
Jackson,
JoAnn
E
Manson,
Judith
Hsia,
Simin
Liu,
Lisa
Martin,
Ross
L
Prentice
Genome Medicine 2009, 1:121 (24 December 2009)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Estrogen plus progestin and estrogen-alone have different effects on proteins involved in growth factor and inflammation pathways, providing an explanation for the distinctive clinical effects of each therapy.
|
|
|
|
Measuring cis-acting regulatory variants genome-wide: new insights into expression genetics and disease susceptibility
Wolfgang
Sadee
Genome Medicine 2009, 1:116 (22 December 2009)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
A recent large-scale allelic expression analysis shows that cis-acting regulatory variants might reveal some of the 'missing heritability' component of complex disorders, which could lead to potential therapy and prevention breakthroughs.
|
|
|
|
Metabolic adaptation of skeletal muscle to high altitude hypoxia: how new technologies could resolve the controversies
Andrew
J
Murray
Genome Medicine 2009, 1:117 (18 December 2009)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
An integrated and quantitative understanding of the body’s metabolic response to high altitude and the conditions under which adaptive processes occur could reveal much about the ways that tissues function in disease states where hypoxia is a critical factor.
|
|
|
|
Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases
David
G
Nathan,
Stuart
H
Orkin
Genome Medicine 2009, 1:114 (9 December 2009)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Enzyme replacement therapies are costly and incomplete but may save lives until more effective therapy is developed, however preventive strategies such as carrier detection should be considered for future management of rare lysosomal storage diseases.
|
|
|
|
Increased hepatic oxidative metabolism distinguishes the action of Peroxisome proliferator-activated receptor δ from Peroxisome proliferator-activated receptor γ in the ob/ob mouse
Lee
D
Roberts,
David
G
Hassall,
Deborah
A
Winegar,
John
N
Haselden,
Andrew
W
Nicholls,
Julian
L
Griffin
Genome Medicine 2009, 1:115 (7 December 2009)
Abstract |
Full text |
PDF
| PubMed
| Editor’s summary
Peroxisome proliferator-activated receptor (PPAR) delta plays a distinct catabolic role by activating hepatic and peripheral fatty acid oxidative metabolism, highlighting its potential as a therapeutic target for dyslipidaemia and metabolic syndrome.
|