Mohammad Dilawar Jan

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Genes disrupted in human microcephaly (meaning "small brain") define key regulators of neural progenitor proliferation and cell-fate specification. In comparison, genes mutated in human lissencephaly (lissos means smooth and cephalos means brain) highlight critical regulators of neuronal migration. Here, we report two families with extreme microcephaly and(More)
OBJECTIVE To evaluate patients presenting to healthcare facilities because of joint pain and subsequently diagnosed with rheumatoid arthritis. METHODS The prospective study was conducted from August 1, 2013,to January 20, 2014, at Jinnah Postgraduate Medical Centre, Karachi, and comprised patients presenting with joint pain. A questionnaire was used to(More)
Ebola Virus Disease (EVD) is a viral infectious disease. This virus has caused a number of outbreaks since its discovery in 1976 but the current West African outbreak is the biggest of all.1,2 Currently five countries in the West Africa are affected by this deadly disease viz, Liberia, Sierra Leone, Guinea, Nigeria and Mali. Mali is the newest to join the(More)
Breast cancer is the most commonly occurring and leading cause of cancer deaths among women globally. Hereditary cases account 5-10% of all the cases and CHEK2 is considered as a moderate penetrance breast cancer risk gene. CHEK2 plays a crucial role in response to DNA damage to promote cell cycle arrest and repair DNA damage or induce apoptosis. Our(More)
Stroke is a common cause of morbidity and mortality around the world. Intracranial large artery atherosclerosis (ICAD) is a frequent etiology of stroke in the South Asian population. There is a need for widely available screening tools to identify patients that are at high risk of stroke due to ICAD for aggressive risk management. This study describes the(More)
Breast cancer is very common and the leading cause of cancer deaths among women globally. Hereditary cases account for 510% of the total burden and CHEK2, which plays crucial role in response to DNA damage to promote cell cycle arrest and repair or induce apoptosis, is considered as a moderate penetrance breast cancer risk gene. Our objective in the current(More)
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