منابع مشابه
One gene , many phenotypes
Phenotype descriptions are valuable information right at the interface of medicine and biology. With the rapid advancement in the fi eld of genetics, thousands of genes involved in human diseases have been cloned. It was expected that knowledge of mutations would lead to consistent genotype-phenotype correlations. The understanding of mechanisms underlying genotype-phenotype discrepancies is im...
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The endoplasmic reticulum (ER) plays a critical role in the synthesis and chaperoning of membrane-associated and secreted proteins. The membrane is also an important site of Ca(2+) storage and release. Calreticulin is a unique ER luminal resident protein. The protein affects many cellular functions, both in the ER lumen and outside of the ER environment. In the ER lumen, calreticulin performs t...
متن کاملLysinuric protein intolerance: one gene, many problems.
AMINO ACIDS are efficiently absorbed in intestine and kidney by epithelial cells endowed with transporters for specific groups of amino acids. Inherited renal aminoacidurias arise as a result of mutations inactivating apical or basolateral transport systems. Although aminoacidurias are diagnosed by urine amino acid analysis, most of the disorders affect both intestinal and renal transport. In t...
متن کاملThe aristaless (Arx) gene: one gene for many "interneuronopathies".
The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype he...
متن کاملHeterogeneity in migraine: many genes for many phenotypes?
Migraine, both with (MA) and without aura (MOA), is well recognized as being recurrent in families, although the exact mode of inheritance is unclear. There are abundant examples of migraine families whose pattern of affliction suggests a simple “monogenic” or mendelian genetic disorder (1). However, the vast majority of “sporadic” migraineurs cannot be consistently categorized by segregation a...
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ژورنال
عنوان ژورنال: Journal of Postgraduate Medicine
سال: 2007
ISSN: 0022-3859
DOI: 10.4103/0022-3859.33968