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Transcriptome and genome sequencing uncovers functional variation in humans
Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes.
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
Genomewide association analysis of coronary artery disease.
Several genetic loci that, individually and in aggregate, substantially affect the risk of development of coronary artery disease are identified.
Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment
It is proposed that the FKBP5 variant–dependent alterations in HPA-axis regulation could be related to the faster response to antidepressant drug treatment and the increased recurrence of depressive episodes observed in this subgroup of depressed individuals.
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
A positional cloning approach was used to identify the ADHR gene which included the annotation of 37 genes within 4 Mb of genomic sequence, and missense mutations in a gene encoding a new member of the fibroblast growth factor (FGF) family, FGF23 were identified.
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
- Paulina Navon Elkan, S. Pierce, E. Levy-Lahad
- Medicine, BiologyNew England Journal of Medicine
- 5 March 2014
Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression.
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
It is concluded that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
The gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hypoplasia patients, is isolated and encodes a new member of the nuclear hormone receptor super-family displaying a novel DNA-binding domain.