The regulation of gene transcription is critical for the proper development and growth of an organism. The transcription of protein-coding genes initiates at the RNA polymerase II core promoter, which is a diverse module that can be controlled by many different elements such as the TATA box and downstream core promoter element (DPE). To understand the basis for core promoter diversity, we explo...

In caudal regions of the diencephalon, sonic hedgehog (Shh) is expressed in the ventral midline of prosomeres 1-3 (p1-p3), which underlie the pretectum, thalamus and prethalamus, respectively. Shh is also expressed in the zona limitans intrathalamica (zli), a dorsally projecting spike that forms at the p2-p3 boundary. The presence of two Shh signaling centers in the thalamus has made it difficu...

Single umbilical artery (SUA) is the most common abnormality of the umbilical cord. It is associated with an increased incidence of atresia of hollow organs, renal abnormalities, limb reduction defects and spontaneous abortions. The aetiopathogenesis, although unknown, is attributed to vascular disruption. In this study, 15 foetal autopsies with SUA, seen over a one-year period have been review...

BACKGROUND Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia involving only hair and nails have been described. In an effort to understand the molecular bases of this form of ectodermal dysplasia, large Pakistani consanguineous kindred with multiple affected individuals has been ascertained from a remo...

We analyzed somatic mutation and loss of heterozygosity (LOH) in the serine/threonine kinase 11 (STK11)/Peutz-Jeghers syndrome gene in 49 colorectal tumors in three different stages of a dysplasia-carcinoma sequence. We detected LOH in 10 of 19 (52.6%) informative colorectal cancers at loci D19S886 and/or D19S883, but no LOH was observed in 25 informative adenomas. We detected a total of 9 soma...

We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 ...

Developmental series were constructed for postflexion larvae of 6 and early juveniles of 12 species of western Atlantic Haemulon from reared wild-caught larvae; seine, nightlight and rotenone collections; and museum material. Number and placement of midline melanophores, combinations of typical dorsal and anal ray frequencies, timing and morphologies of caudal spot appearance, and preopercular ...

background and objective: microscopic evaluation of cervicovaginal smears (pap smear) plays an essential role in detection of preneoplastic and neoplastic lesions of uterine cervix. a wide spectrum of changes is seen in pap smears. interpretation of intermediate changes which resulting in observation of so- called ascus is difficult. ascus is defined as a cellular change that is more marked tha...

recurrent bacterial meningitis is not a common disease and makes physicians seek underlying predisposing factors which can result from anatomic anomalies or immunodeficiency. in this paper we present a boy with recurrent bacterial meningitis with the history of trauma and sensorineural hearing loss. mondini dysplasia was demonstrated with computed homographic scans (ct-scan) of temporal bones.