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Elucidating the Genetic Basis of Neurological Disorders in Pakistani Population

Thesis Info

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Author

Zafar Ali

Program

PhD

Institute

Pakistan Institute of Engineering and Applied Sciences

City

Islamabad

Province

Islamabad

Country

Pakistan

Thesis Completing Year

2017

Thesis Completion Status

Completed

Subject

Natural Sciences

Language

English

Link

http://prr.hec.gov.pk/jspui/bitstream/123456789/9029/1/Zafar%20Ali%20Thesis%20Final%20print.pdf

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726050485

Similar


Human brain development is a complex process involving many cellular pathways. Pathogenic mutations in genes controlling as a whole or in parts, any of these cellular processes result in neurological disorders. It is basically due to defective signaling function in central or peripheral nervous system. The clinical features of such disorders are extremely diverse and overlapping, with even greater genetic heterogeneity. They may either be simple, having Mendelian inheritance or they may be complex. Genetic factors play very important role both in simple and complex neurological diseases. The consequences of such diseases are usually devastating both for affected individuals, their families and society, mainly by affecting the qualities which make human special as person; the character, memory, cognition, communication and skilled movements. In the present study, 11 consanguineous Pakistani families having neurological disorders of Mendelian inheritance were investigated using next generation sequencing (NGS) technologies. Rare and disease causing variants mostly occur in coding part of genome. Whole exome sequencing (WES) was used as a method of choice in the current study because of the heterogeneous nature of neurological disorders both clinically and genetically. Variants obtained from WES were prioritized based on their inheritance pattern, disease association, functional relevance and pathogenicity score as predicted by different bioinformatics tools such as Mutation Taster and PolyPhen-2. Segregation of all the variants were confirmed using Sanger sequencing. Ten novel and one already reported mutation were identified in this study. At present there are no effective treatment strategies available for most of these diseases. Therefore, identification of gene/s and pathogenic variant/s in these diseases will help understand underlying molecular mechanisms better, and lead to improved strategies both for genetic counseling and potential therapeutics
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مطبوعات پروفیسر عبد الحق

مطبوعات پروفیسر عبد الحق
ا۔ اقبال کے ابتدائی افکار 1969ء
۲:تنقید اقبال اور دوسرے مضامین 1976ء
۳:فکر اقبال کی سرگذشت 1989ء
۴:عصری نعت ( تیسرا ایڈیشن) 2013ء
۵: شیخ ظہور الدین حاتم (مونو گراف) 2007ء
۶: اقبال اور اقبالیات (دوسرا ایڈیشن) 2009ء
۷: اقبال شاعر رنگیں نوا 2009ء
۸: رشید احمد صدیقی کا ثقافتی منظر نامہ 2010ء
۹:ترسیل و ترجمہ اردو اور ادارے 2010ء
۱۰:ذکرِ یارِ مہرباں 2012ء
۱۱: تبریک وتبصرے 2012ء
۱۲:اقبال کا حرف شیریں 2014ء
۱۳:شبلی اور معاصرین 2015ء
۱۴:محمد اقبال (مونو گراف) 2015ء
۱۵:علامہ اقبال (مونو گراف) 2016ء
۱۶:متن شناسی 2016ء
۱۷: انتخابِ حاتم 1977ء
۱۸: متاعِ سخن 1978ء
19 :اقبال کے شعری اسالیب 1978ء
۲۰: کلامِ حاتم (اردو کا دیوان اول) 1991ء
۲۱ :تنقیدی تصورات 1994ء
۲۲: تحقیقی تصورات 1995ء
۲۳:اقبال کی شعری وفکری جہات 1998ء
۲۴:رشید احمد صدیقی افکار و اسالیب 1999ء
۲۵ :مولانا ابو الکلام آزاد افکار و اسالیب 2003ء
۲۶:شمالی ہند کا پہلا اردو دیوان 2009ء
۲۷ :دیوان آزاد 2010ء
۲۸: خواجہ طارق محمود 2009ء
۲۹: سارے جہاں سے اچھا (اقبال مونوگراف)2009ء
۳۰: داکٹر محمد حسن افکار و اسالیب 2011ء
۳۱: تذکرۂ الٰہی (۳جلدیں) 2013ء
۳۲: خیالِ یارِ مہرباں 2013ء
۳۳: متاعِ فن 2013ء
۳۴: قطبی کا تیرہ ماسہ (زیرِ اشاعت) 2016ء
ترجمہ
۳۵: Virtues of Remembering (فضائلِ ذکر کا انگریزی میں ترجمہ) 1998ء
۳۶:عصری ملیالم کہانیاں (ہندی سے اردو ترجمہ) 1993ء
۳۷: بکھرے خیالات (اقبال کی زائری کا انگریزی سے اردور ترجمہ) تیسرا ایڈیشن 2015ء
۳۸: غدر 1815ء (اردو سے ہندی ترجمہ)2007ء
۳۹:لال بہادر شاستری (انگریزی سے اردو ترجمہ) 2002 ء

ا حتساب اور احتساب بیوروکا تصور سیرت النبی ﷺ کے تناظر میں اجمالی جائزہ

The system of accountability is essential for the stability and development of any state. The department of accountability helps the Govt to evaluate the performance of its officer in order to block the way of corruption, dishonesty, and misuse of powers.  Holy Prophet (ﷺ) introduced a new department for accountability and said that his pledge is the best time for accountability and named his era khayr-ul-quroon. These departments are legislators, judiciary, and administration. The institutions of accountability are summoned today as the Accountability Bureau. The aim of these institutions was to do work for the welfare of mankind and save humanity from the oppression of human beings. At an early age, these institutions were nominated as Dewan al-Ahtsab, Dewan- al-Mazloum. In Khilafat Rashida, many institutions were built on these concepts, and the Muslim ruler who came after them gave a complete system of Accountability.  Later on, the names of these institutions were changed, but the aims of these institutions remained the same. This article explains the establishment of different types of accountability institutions in the era of the Holy Prophetﷺ and His companions and their function.

A Comparative Analsis of the Effect of Working Capital Management on the Profitability of Small and Large Companies Listed at Karachi Stock Exchange

Working Capital Management has an overriding impact on a firm’s profit performance. However, the profitability of large firms, unlike small ones, might show a different degree of sensitivity to the efficient management of working capital. Presumably small firms and large firms are different from each other in that working capital management may affect more (or less) the profitability of one or the other. One wonders as to which type of firms (small or large) exhibit more escalation in their profitability as a result of a decent management of their working capital. Exploring the answer to this query is the basic aim of this research dissertation. To do that, effect of working capital management was determined on the profitability of the two forms of organizations separately and then the results so derived were compared in order to determine the difference in the possible effect of WCM on profitability of the two organization types, if any. To serve the purpose, two distinct samples were made, one having all the SME’s listed in the Karachi Stock Exchange and the other including the largest non-financial firms of the country listed in KSE, the data of which was available. Related data was gathered for firms in both samples for a period of six years from 2003 to 2008. All the relevant and the required financial information was acquired from an official document titled, “Balance Sheet Analysis of Joint Stock Companies Listed on the Karachi Stock Exchange --- (2003-2008)”, formally published by the Statistics and DWH Department of the State Bank of Pakistan (SBP). This document contained the Balance Sheet analysis of all the non-financial firms listed on the Karachi Stock Exchange as at June 30, 2008. Hence the research was entirely based on the Secondary data. It should be stated that the financial corporations like Banking Companies, Insurance Companies, Leasing Companies and Modarabas etc. were not included in this study. A total of 40 (out of 93) small firms were included in the first sample (known as Sample 1) for six years which led to 240 firm-year observations. Similarly, 103 (out of 343) large companies were incorporated in the second sample (known as Sample 2) for six consecutive years leading to 618 firm-year observations. Working Capital Management was measured by the Cash Conversion Cycle. As for the measurement of profitability, two variables were used; the Return on Assets and the Operating Profit to Sales. The Pearson Product Moment Coefficient of Correlation and the Linear Regression Analysis were used to examine the relationship between the Cash Conversion Cycle and that of the profitability variables. The correlation analyses were separately made for all the firms included in the two samples individually and then for the pooled data of each sample collectively so as to make a clear comparison. As for the Regression, two separate analyses were made, one detecting the influence of working capital management on the Return on Assets, and the other finding out the impact of WCM on the Operating Profit to Sales for both the samples. Results of the individual Correlation analysis for the two samples did not present a clear picture of whether the indicators of WCM had more, or less, influence on the profitability of small, or large, firms or vice versa. However, a comparison of the results of the Pooled Correlation analysis of the two samples suggested that the indicators of working capital management had a more visible impact on the profitability of firms of relatively larger size. In the first Regression analysis (called the Regression Analysis ‘A’), no significant associations were detected between the indicators of WCM and the Return on Assets for Sample 1. As for Sample 2, one of the WCM indicators, however, was found to be negatively and significantly related with the Return on Assets. The Regression analysis ‘B’, nonetheless, brought very clear demarcation between the effects of WCM on the profitability (Operating Profit to Sales) of the two samples. On the one hand, a very few significant relationships were found between the indicators of WCM and the profitability for Sample 1. And in contrast, the pooled data of Sample 2 displayed highly significant relationships of Operating Profit to Sales with all the indicators of working capital management including the Inventory Conversion Period, Receivable Collection Period, Payable Deferral Period and the Cash Conversion Cycle. This is a clear indication of the fact that the efficiency of managing working capital has more constructive effect on the profitability of larger firms. Hence, it is suggested for the managers of large-sized corporations to redouble their thought on the effective and vigilant management of their working capital so as to invigorate profitability.