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Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
Abstract: Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement disorder, ataxia, and eventually death. Diagnosis is often delayed due to the rarity of the conditions. Results: Here, we report a case presenting with clinical features of CLN2, carrying a homozygous novel nonsense variant in TPP1 (NM_000391:c.C832T, (p.Q278*), rs1352347549). Moreover, we performed a comprehensive literature review regarding previously identified disease-causing TPP1 mutations and genotype-phenotype correlations. Conclusion: Depending on the type of mutation, different phenotypes are observed in patients with CLN2, suggesting that the severity of phenotypes is related to the genotype of the patients
Teaching Practice Handbook
A reference book for EFL teachers in training. The book has been revised and updated in line with changes in teacher training, and reflects the Cambridge / RSA CTEFLA assessment guidelines.
Molecular Pathogenesis of Colorectal Cancer
Colorectal cancer has for more than two decades served as the paradigm for the multi-step concept of cancer initiation and progression. Perhaps more than any other organ site, cancer of the colon is extensively characterized at the molecular level. We are now entering a time when molecular classification, rather than histologic classification, of cancer subtypes is driving the development of clinical trials with emerging targeted therapies. The book will focus on the progression from the identification of mutations that drive colorectal cancer initiation and progression to the search for novel therapies to treat the disease.
Four Corners Level 3 Student's Book A with Self-study CD-ROM
Four Corners is an integrated four-skills English course for adults and young adults. Four Corners Student's Book A with Self-study CD-ROM, Level 3 is designed for low intermediate students requiring a thorough presentation of basic grammar, vocabulary, and functional language. Units 1-6 cover high-interest topics such as style, interesting lives, our world, personalities, and the environment. In Four Corners, multiple speaking activities in every lesson tied to measurable outcomes help students and teachers see the results of their learning. Additional 'Keep Talking' activities help students develop fluency. As with other levels of Four Corners, an extensive set of print and electronic course components is available to help develop students' communication and confidence.
Brain Mechanisms in Problem Solving and Intelligence
This book is the outcome of a decade of research on the neu roanatomical mechanisms of learning in the young laboratory rat. It is essentially a discourse on the functional organization of the brain in relation to problem-solving ability and intelli gence. During the period between 1980 and 1989, well over 1000 weanling albino rats were subjected to localized brain damage (or sham operations in the case of the controls) under deep anesthesia and aseptic surgical conditions, were allowed tore cover, and subsequently were tested on a wide variety of prob lems designed to measure general learning ability. Since vir tually every part of the brain rostral to the medulla has been explored with les...
Materials Evaluation and Design for Language Teaching
Providing integrated and wide-ranging coverage of the topic, this is the ideal book for those studying or practising language teaching or applied linguistics.
Studies on Periodontal Disease
The chapters of Studies on Periodontal Disease comprise four parts. Part 1 provides basic sciences from the general to the particular. The findings of cell culture and animal models supply the mechanism between periodontal disease and oxidative stress. In part 2, human clinical studies are mainly addressed. The effects of periodontal therapy on circulating oxidative stress are also discussed. The relationships between periodontal disease and systemic diseases are examined in part 3. The involvement of oxidative stress and inflammation are discussed through in vivo and in vitro study results. Part 4 discusses future strategies, including the effects of antioxidants and nutrition on periodontal disease. This thorough examination of the relationship between oxidative stress and periodontal disease is essential reading for researchers in oxidative stress and periodontal clinicians, alike.
DNA and Histone Methylation as Cancer Targets
This book will focus on DNA and histone methylation in epigenetics and describe how it is involved in the molecular mechanisms responsible for the development of cancer. Chapters will summarize the current knowledge of the molecular basis of DNA and histone methylation and explain how it is involved in cancer, describe the features of DNA and histone methylation associated with particular types of cancer, diagnostic/therapeutic applications, and future directions of DNA and histone methylation as cancer targets.
Developing Courses in English for Specific Purposes
Presented in two parts, this book firstly introduces core considerations in ESP course development drawing on examples from a wide range of ESP and EAP courses. Secondly four case studies show how experienced ESP teachers and course developers went about developing courses to meet the needs of their particular learners.
