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1.
Nature ; 434(7031): 325-37, 2005 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-15772651

RESUMO

The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.


Assuntos
Cromossomos Humanos X/genética , Evolução Molecular , Genômica , Análise de Sequência de DNA , Animais , Antígenos de Neoplasias/genética , Centrômero/genética , Cromossomos Humanos Y/genética , Mapeamento de Sequências Contíguas , Troca Genética/genética , Mecanismo Genético de Compensação de Dose , Feminino , Ligação Genética/genética , Genética Médica , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , RNA/genética , Sequências Repetitivas de Ácido Nucleico/genética , Homologia de Sequência do Ácido Nucleico , Testículo/metabolismo
2.
J Hum Kinet ; 42: 103-11, 2014 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-25414744

RESUMO

The purpose of this study was to determine if the HRindex Method (VO2max = [6 x HRindex - 5] x 3.5, where HRindex = HRmax/HRrest) was accurate for tracking changes in VO2max following 8-weeks of endurance training among collegiate female soccer players. Predicted VO2max via the HRindex Method and observed VO2max from a maximal exercise test on a treadmill were determined for a group of female soccer athletes (n = 15) before and following an 8-week endurance training protocol. The predicted (pVO2max) and observed (aVO2max) values were compared at baseline and within 1-week post-training. Change values (i.e., the difference between pre to post) for each variable were also determined and compared. There was a significant difference between aVO2max before (43.2 ± 2.8 ml·kg·min(-1)) and following (46.2 ± 2.1 ml·kg·min(-1)) the 8-week training program (p < 0.05). However, pVO2max did not significantly change following training (pre = 43.4 ± 4.6 ml·kg·min(-1), post = 42.9 ± 4.1 ml·kg·min(-1), p = 0.53). Furthermore, the correlation between the change in aVO2max and the change in pVO2max was trivial and non-significant (r = 0.30, p = 0.28). The HRindex Method does not appear to be suitable for predicting changes in VO2max following 8-weeks of endurance training in female collegiate soccer players.

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