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Biochimica
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
Scritto da Nature Reviews: Genetics   
BiochimicaMutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, that involve skin cancer and developmental and neurological symptoms. These mutations ... ...
 
Genetics of motor neuron disorders: new insights into pathogenic mechanisms
Scritto da Nature Reviews: Genetics   
BiochimicaThe past few years have seen the identification of dozens of genes with causal roles in motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary spastic paraplegia. Although many additional MND genes remain to be id ... ...
 
The genetics of inbreeding depression
Scritto da Nature Reviews: Genetics   
BiochimicaInbreeding depression ? the reduced survival and fertility of offspring of related individuals ? occurs in wild animal and plant populations as well as in humans, indicating that genetic variation in fitness traits exists in natural populations. Inbr ... ...
 
Evolution: No turning back
Scritto da Nature Reviews: Genetics   
BiochimicaEvolution marches relentlessly on and, it has now been found, it travels on a one-way street. By manipulating the evolutionary changes that have affected the function of the vertebrate glucocorticoid receptor, Thornton and colleagues have shown that ... ...
 
Encephalocraniocutaneous lipomatosis
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground:

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder of unknown aetiology. It has repeatedly been discussed as a localised form of Proteus syndrome. In 2006, the first large ser ... ...

 
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground:

Congenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists. The authors aimed to characterise causative mutations in an uns ... ...

 
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground:

Psoriasis is a genetically complex, chronic inflammatory skin disease. The authors have previously identified a susceptibility locus on chromosome 19p13 (PSORS6).

Methods and results:

In a fol ... ...

 
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