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Betül Şereflican, Bengü Tuman, Murat Şereflican, Sıddıka Halıcıoğlu, Gülzade Özyalvaçlı, Seval Bayrak
Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The diagnosis is based on major and minor clinical and radiologic criteria. Early diagnosis and treatment are of utmost importance in reducing the severity of long-term sequelae of this syndrome...
September 2017: Türk Pediatri Arşivi
Aysel Topan, Dilek Bayram, Mustafa Özendi, Ali Cam, Özlem Öztürk, Tülay Kuzlu Ayyıldız, Hülya Kulakçı, Funda Veren
The main objective of this research is to examine child cancer cases in Zonguldak/Turkey descriptively in epidemiological aspect with the help of GIS. Universe of the study is composed of 60 children between 1 and 19 years old who were treated in Children Oncology Clinic with a diagnosis of cancer. Whole universe was reached without selecting a sample in the study. Data were collected by using a form prepared by obtaining expert advice and they were applied to children and their parents at study dates. Results were expressed as percentages...
October 2016: Journal of Medical Systems
Joanna Mulvaney, Alain Dabdoub
Atoh1 (also known as Math1, Hath1, and Cath1 in mouse, human, and chicken, respectively) is a proneural basic helix-loop-helix (bHLH) transcription factor that is required in a variety of developmental contexts. Atoh1 is involved in differentiation of neurons, secretory cells in the gut, and mechanoreceptors including auditory hair cells. Together with the two closely related bHLH genes, Neurog1 and NeuroD1, Atoh1 regulates neurosensory development in the ear as well as neurogenesis in the cerebellum. Atoh1 activity in the cochlea is both necessary and sufficient to drive auditory hair cell differentiation, in keeping with its known role as a regulator of various genes that are markers of terminal differentiation...
June 2012: Journal of the Association for Research in Otolaryngology: JARO
B V V G Reddy, Cordelia Rauskolb, Kenneth D Irvine
The Drosophila optic lobe develops from neuroepithelial cells, which function as symmetrically dividing neural progenitors. We describe here a role for the Fat-Hippo pathway in controlling the growth and differentiation of Drosophila optic neuroepithelia. Mutation of tumor suppressor genes within the pathway, or expression of activated Yorkie, promotes overgrowth of neuroepithelial cells and delays or blocks their differentiation; mutation of yorkie inhibits growth and accelerates differentiation. Neuroblasts and other neural cells, by contrast, appear unaffected by Yorkie activation...
July 2010: Development
Xia Cao, Yi Hong, Kong Weng Eu, Carol Loi, Peh Yean Cheah
OBJECTIVES: Germline mutation in adenomatous polyposis coli (APC) is detected in up to 80% of familial adenomatous polyposis (FAP) patients worldwide. In this study, we evaluated clinical features and APC mutations of Singapore FAP patients and contrasted genotype-phenotype correlation with Caucasians from other regions of the world and between FAP patients with and without detectable APC mutations. METHODS: We screened 242 members from 57 unrelated FAP families using a combination of cDNA protein truncation test, multiplex ligation-dependent probe amplification, and differential expression techniques...
December 2006: American Journal of Gastroenterology
Johanna Andrae, Catrin Molander, Anja Smits, Keiko Funa, Monica Nistér
The malignant childhood brain tumor medulloblastoma belongs to the group of primitive neuroectodermal tumours (PNETs). Medulloblastomas are thought to arise from remnants of the transient external germinal layer in the cerebellum. Proliferation, differentiation, and motility of cells in the central nervous system are regulated by growth factors, e.g., platelet-derived growth factor (PDGF). Recently, it was shown that higher level of PDGF alpha-receptor expression is characteristic of metastatic medulloblastomas...
August 23, 2002: Biochemical and Biophysical Research Communications
K S Sandikci, M K Gümüstaş, Y Tüter, E Kökoğlu, E Ozyurt, V Sözer
Carnitine has two main functions, i.e., transporting long-chain fatty acids into the mitochondrial matrix for beta-oxidation to provide cellular energy and modulating the rise in intramitochondrial acyl-CoA/CoA ratio, which relieves the inhibition of many intramitochondrial enzymes involving glucose and amino acid catabolism. The present study examined the acid soluble carnitine (ASCAR) acid insoluble carnitine (AICAR) and total carnitine (TCAR) concentrations of 50 human brain tumor tissues and 11 normal brain tissues...
July 1999: Cancer Biochemistry Biophysics
W Wang, P Kumar, W Wang, J Whalley, M Schwarz, G Malone, A Haworth, S Kumar
The p53 and PAX3 genes were examined by PCR, SSCP and DNA sequencing methods in 50 and 58 paraffinembedded medullablastoma tissues, respectively. Four novel mutations were identified among these samples in exon 5 of the p53 gene. Two tumours showed a G to A transition. One heterozygous mutation was located on codon 158 which changed the encoded amino acid from Arg (CGC) to His (CAC). Another was located on codon 174 and replaced AGG (Arg) with AAG (Lys). There was a single base deletion of guanine located on codon 160 in another two samples, causing a frameshift...
March 1998: Anticancer Research
P W Ingham
The cloning of vertebrate homologues of the Drosophila segment polarity gene patched has led to confirmation of a role for the multipass transmembrane protein which it encodes as a receptor for secreted signalling proteins of the Hedgehog family. In addition, human patched has been identified as a tumour suppressor gene implicated in basal cell carcinomas and medullablastomas.
February 1998: Current Opinion in Genetics & Development
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