BACKGROUND Most non-chromosomal congenital heart defects are thought to be caused by the interaction of genetic factors involving multiple genes and environmental factors. Families that have several affected members have been reported, however, which suggests that a single autosomal dominant or recessive gene may cause the cardiac defects. A family in which atrioventricular septal defect seemed...

growth defect in Saccharomyces cerevisiae. phosphatase gene (PTC1) cause a synthetic gene (PTP2) and a protein serine/threonine Mutations in a protein tyrosine phosphatase

conclusions more studies are needed to investigate the relationship between other parts of this gene with hearing loss in different populations through the country. more research could clarify the role of this gene and its relation with deafness and provide essential information for the prevention and management of auditory disorders caused by genetic factors in the iranian population. backgrou...

Background One kind of sperm abnormality that leads to men infertility is short flagella sperms. In this defect, fibrous sheath and axoneme are disorganized, the sperms tail is short, the numbers of sperms in the semen fluid reduce and the sperms are immotile. There are also other kinds of oligoasthenoteratozospermia (OAT) disorder that causes infertility in men. A kinas anchoring protein 3 (AK...

Background ISTS defect in which sperm tail is short and fibrous sheath and axoneme are disorganized, is one of the syndromes that cause male infertility. Although a few studies have been done in this regard, its exact etiology in human is unclear yet. Four candidate genes causing ISTS are SPEF2, RABL2B, and A-kinas anchoring proteins genes (AKAP3 and AKAP4). Proteins which coded by SPEF2 and RA...

A technique for registering and relating events that cause an observable definable system state is proposed. Discrete of system-state transfer are expressed by event tracking clustering in the form contiguous quanta data. This approach capable describing typical processes industrial systems a chain codes contain input/output parameters. The constituent nodes Markovian Processes series akin to g...

Brittle bone disease (Osteogenesis imperfecta first defined by McKusick in 1956, is a disease that causes extremely fragile bones. It is a (OI)), congenital disease meaning that it is present during birth. It is often caused by a defect in the gene that produces type I collagen an important building block of bone and the most abundant protein found in the body. This gene can be affected in many...

The attenuated expression of virulence genes found in a group A streptococcal strain that is naturally pathogenic for mice was postulated to result from a defect in the strain's multigene regulator, Mga. The sequence of the mga gene reveals three amino acid changes in the gene product that might affect protein function. The defect in the mga gene was complemented by providing either the closely...

OBJECTIVE To identify the genetic defect in a neonate presented with prolonged jaundice and central hypothyroidism. DESIGN Central hypothyroidism was detected in a neonate initially examined for prolonged jaundice, and levothyroxine therapy was initiated. Direct sequencing of the Prop1 gene was carried out and pituitary function and morphology were evaluated using hormonal testing and magneti...

background: lip carcinoma is a common cancer with a good prognosis and when patients refer early in the course of disease the results of treatment are acceptable. surgical procedures for reconstruction of lip defects are the use of remaining lip tissue, tissue from the opposite lip, adjacent cheek tissue, distant flaps and microvascular free flaps. the bitemporal (visor) flap is a regional flap...