familial adenomatous polyposis (fap) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the adenomatous polyposis coli (apc) gene on chromosome 5q21. patients with fap suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. fap has also been...

The high osmolarity glycerol (HOG) pathway, comprising a two-component system and the Hog1 mitogen-activated protein kinase (MAPK) cascade, plays pivotal role in eukaryotic organisms. Previous studies suggested that biological functions of some key genes HOG pathway varied filamentous fungi. In this study, we characterized putative MAPK gene, Ssos4, Sclerotinia sclerotiorum, which encoded phosp...

Background: The Y chromosome microdeletion is one of the best-documented causes of male infertility but the factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. In view of this, the objective of the present study was to explore...

Sleep disorder is one of the prominent manifestations Angelman syndrome. The exact causes are unknown and methods correction difficult. literature review devoted to studies pathogenesis sleep disorders in syndrome (the effects gene function 15q11–q13 deletion, findings polysomnography, video-EEG monitoring, laboratory data), on basis which recommendations for dyssomnia, including behavioral the...

Objective The presence of different missense mutations in sheep breeds have shown that the bone morphogenetic protein receptor 1B (BMPR1B), bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes play a vital role in ovulation rate and prolificacy in ewes. Therefore, the present study investigates BMPR1B, BMP15 and GDF9 genes mutations in prolific ewes of Iranian ...

SARS-CoV-2 Spike amino acid replacements in the receptor binding domain (RBD) occur relatively frequently and some have a consequence for immune recognition. Here we report recurrent emergence significant onward transmission of six-nucleotide out frame deletion S gene, which results loss two acids: H69 V70. We show that

defects in genes for survival motor neuron (smn) and neural apoptosis inhibitory proteins (naip) have been reported associated with spinal muscular atrophy (sma). among the genetic defects, deletions in exons 7 and 8 of smn and exons 4 and 5 of naip were found to be most significant. in the current study, 35 unrelated sma patients including 9 patients with type i, 6 with type ii, 20 with type i...

Ebstein anomaly is a rare heterogeneous congenital heart defect (CHD) with largely unknown etiology. We present 6-year-old girl anomaly, atrial septum defect, hypoplastic right ventricle, and persistent left superior vena cava who has de novo intragenic ~403 kb deletion of the GDP-mannose 4,6-dehydratase (GMDS) gene. GMDS located on chromosome 6p25.3 encodes rate limiting enzyme in GDP-fucose s...