Epidermal growth factor receptor (EGFR) activation has been demonstrated to have a critical role in tumor angiogenesis. In the present study, the correlation between EGFR mutations and vascular endothelial growth factor (VEGF) was investigated in lung cancer cell lines and non-small-cell lung cancer (NSCLC) tumor tissues. VEGF levels were significantly increased in culture medium of lung cancer...

Using the single-strand conformational polymorphism technique, we have screened 66 malignant ovarian tumors for p53 mutation in exons 5 to 8. Thirty-four of the tumors demonstrated a single-strand conformational polymorphism band shift in this region of the gene, including 6 in exon 5, 7 in exon 6, 12 in exon 7, and 10 in exon 8 (one of the tumors showed a shift for exons 7 and 8). All of the s...

The putative tumor suppressor gene pi6/CDKN2 encodes a specific Inhibitor of cydlin D-cydlln-dependent kinase 4 complexes important in cell-cycle regulation and has been found to be deleted or mutated in a variety of human cancers. Thirty microdissected primary human ductal pancreatic carcinomas from patients not subject to radiotherapy or them otherapy prior to sur@cal resection of their carci...

The aim of the study was to evaluate EGFR (exon 19 deletion, exon 21 L858R point mutation), KRAS and braf mutation rates besides their relationship with survival and response to the treatment in non small cell lung cancer (NSCLC). We evaluated 513 NSCLC patients followed-up between January 2004 and November 2009 according to our registration data, retrospectively. Only 42 advanced stage NSCLC p...

autosomal dominant congenital cataract (adcc) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. heterozygous null mutations in the crystallin genes are the major cause of the adcc. this study aims to detect the mutational spectrum of four crystallin genes, cryba1/a3 , crybb1 , crybb2 and crygd in an iranian family. genomic dna was isolated from w...

introduction: duchene/ becker (dmd/bmd) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an x-linked recessive trait. the disease is caused by partial deletion in dystrophin gene. we developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected...

We screened the aldolase B gene in 14 unrelated Italian patients with hereditary fructose intolerance (HFI), and found two novel disease related mutations: a single nucleotide deletion in exon 2 (delta A20) that leads to an early stop codon, and a C-->T transition in exon 8 that substitutes an Arg with a Trp residue at codon 303 (R303W).

Objective: In the present study, we investigate the role of the NH2-terminal region of RyR2 in and the impact of a number of cardiomyopathy-associated RyR2 mutations on the termination of Ca release. Methods and Results: The 35-residue exon-3 region of RyR2 is associated with dilated cardiomyopathy. Single-cell luminal Ca imaging revealed that the deletion of the first 305 NH2-terminal residues...

Zusammenfassung Im Dezember 2020 hat der Gemeinsame Bundesausschuss beschlossen, dass das Screening auf spinale Muskelatrophie (SMA) in allgemeine Neugeborenenscreening aufgenommen werden soll. Grundlage dieser Entscheidung war die Tatsache, inzwischen gezielte Behandlungsmöglichkeiten für Patienten mit SMA zur Verfügung stehen und Zeitpunkt, zu dem Behandlung begonnen wird, entscheidend den Er...