Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and aminoacid homology with the yeast DNA repair gene RAD10.

The human excision repair gene ERCC-7 was cloned after DNA mediated gene transfer to the CHO mutant 43-38, which is sensitive to ultraviolet light and mitomycin-C. We describe the cloning and sequence analysis of the ERCC-7 cDNA and partial characterization of the gene. ERCC.1 has a size of 15 kb and is located on human chromosome 19. The ERCC.1 precursor RNA is subject to alternative splicing of an internal 72 bp coding exon. Only the cDNA of the larger 1.1 kb transcript, encoding a protein of 297 amino acids, was able to confer resistance to ultraviolet light and mitomycin-C on 43-38 cells. Significant amino acid sequence homology was found between the ERCC.7 gene product and the yeast excision repair protein RADIO. The most homologous region displayed structural homology with DNA binding domains of various polypeptides

Localization of sequences related to the human RAD6 DNA repair gene on mouse Chromosomes 11 and 13

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47025/1/335_2004_Article_BF00352425.pd

Sialorrhea and salivary composition in patients with Parkinson's disease [Meeting Abstract]

[Abtract Not Available

Effect of Acorus calamus and Apium graveolens extracts on Egfr and Erbb2 in LNCaP cells

[Abtract Not Available

PLEURAL EFFUSION: A RARE COMPLICATION OF HEPATITIS A

Hepatitis A (HAV) infection, which is the most common form of hepatitis in the paediatric age group and which sometimes has a fulminant course, is endemic in Turkey, constituting one of the country's important health problems. Pleural effusion also represents a rare benign complication of acute HAV infections. We describe here a case of Hepatitis A who developed pleural effusion

Delay in diagnosis of hypopituitarism after traumatic head injury: A case report and review of the literature

Neuroendocrine complications are among important and frequently missed complications of traumatic brain injury. Hypopituitarism, the partial or complete insufficiency of anterior pituitary secretion may be underrecognized due to its subtle clinical manifestations in traumatic patients. We report a case of 14(1)/(2)-yearold girl who was admitted due to growth failure and had been diagnosed to have multiple hypophyseal hormone deficiency including thyroid-stimulating hormone, gonadotropins, adrenocorticotropin hormone which developed years after traumatic head injury

Presumed ocular tuberculosis in an immunocompetent eight-year-old boy

In recent years, tuberculosis has re-emerged as a serious public health problem, raising the possibility that tuberculous eye disease may also have become more prevalent. Ocular tuberculosis usually occurs in apparently healthy individuals. It is rarely observed in patients with active pulmonary disease. An eight-year-old boy was admitted to our department because of chronic granulomatous anterior uveitis on his left eye. His medical history was unremarkable. There were no systemic symptoms of tuberculosis. He had a positive purified protein derivative test reaction. In our case, the diagnosis of ocular tuberculosis was presumptive and depended upon indirect evidence. The patient was started on anti-tuberculosis therapy with three drugs, which were continued for 12 months, with complete healing of the ocular lesions, including a marked improvement in the gait of the patient. Tuberculosis remains one of the most important causes of morbidity and mortality in developing countries

Metriorhynchid crocodylomorphs from the lower Kimmeridgian of Southern Germany: evidence for a new large-bodied geosaurin lineage in Europe

Over the last two centuries, numerous exquisitely preserved thalattosuchian crocodylomorph skeletons have been found in the Jurassic strata of Southern Germany. While the majority of these specimens occur in Toarcian and upper Kimmeridgian–lower Tithonian deposits, thalattosuchian remains are otherwise rare in strata representing different stages of the Jurassic. Here, we describe skeletal elements from two large-bodied thalattosuchians attributable to the family Metriorhynchidae – these were recovered from lower Kimmeridgian sediments in Bavaria and Baden-Württemberg, respectively. These new metriorhynchid fossils are closely comparable in both stratigraphic age and dental morphology, and thus may be congeneric. Furthermore, our phylogenetic analysis suggests affinity with metriorhynchid remains from France, Switzerland, and the UK. We interpret these taxa as members of an as-yet unnamed geosaurine metriorhynchid lineage (herein termed the ‘E-clade’) from the Kimmeridgian and Tithonian of Europe, which appears to be related to species of Torvoneustes from England and Mexico, and Purranisaurus potens from Argentina, collectively contributing to ‘Subclade T’ of the tribe Geosaurini. Finally, the metriorhynchid material described herein suggests preservation as a ‘bloat and float’ carcass that underwent diagenetic dispersal within a limestone-marl-alternation deposited in an off-shore epicontinental marine environment

Some identities deriving from the nth power of a special matrix

In this paper, we consider the Horadam sequence and some summation formulas involving the terms of the Horadam sequence. We derive combinatorial identities by using the trace, the determinant and the n th power of a special matrix

Neuromuscular disease genetics in under-represented populations: increasing data diversity

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses \u27solved\u27 or \u27possibly solved\u27 ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% \u27solved\u27 and ∼13% \u27possibly solved\u27 outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally