Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes
Down syndrome, the most frequent genetic cause of significant mental retardation, which …

Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder
characterized by a number of phenotypic features including cardiovascular defects. Most …

2 Schuler, GD et al.(1997) Pieces of the puzzle: expressed sequence tags and the catalogue
of human genes. J. Mol. Med. 75, 694–698 3 Boguski, MS and Schuler, GD (1995) …

The Rho family of small GTPases act as intracellular molecular switches that transduce
signals from extracellular stimuli to the actin cytoskeleton and the nucleus. Recent evidence …

This book has been written to meet the needs of students for biotechnology courses at
various levels of undergraduate and graduate studies. This book covers all the important …

Assembling a comprehensive catalog of common human sequence polymorphisms is a key
goal of the Human Genome Project. The International SNP Map Working Group has …

To fully understand genome function, the linear genome map must be integrated with a
spatial map of chromosomes in the nucleus. Distinct nuclear addresses for a few human …

In humans, the kidneys filter∼ 180 g of d-glucose from plasma each day, and this is
normally reabsorbed in the proximal tubules. Although the mechanism of reabsorption is …

The sodium/glucose cotransporter family (SLCA5) has 220 or more members in animal and
bacterial cells. There are 11 human genes expressed in tissues ranging from epithelia to the …

Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in
common a high frequency of hemizygous deletions of chromosome 22q11. 2. This deletion …