Molecular characterization of autosomal recessive non syndromic hearing loss in selected families from District Mardan, Pakistan.

Deafness is the most common sensory disorder, which affects 1/1000 neonates globally. Genetic factors are major contributors for hearing impairment. This study was conducted to explore the linkage of DFNB loci and their mutations with NSHL in selected Pakistani families.

Potential Risk Factors for Breast Cancer in Pakistani Women.

Background: Breast cancer is the most common female malignancy worldwide and its incidence is on the rise in Pakistan. The aim of this case-control study was to quantify the association of various risk factors with breast cancer risk among Pakistani women.

Materials And Methods: A total of 2,246 women were studied, including 1,238 women with histologically confirmed breast cancer patients and age matched control subjects (N=1008) without breast cancer and other chronic diseases.

Association of the CYP17-34T/C Polymorphism with Pancreatic Cancer Risk.

Pancreatic cancer is a leading cause of fatality worldwide. Several population studies have been conducted on genetic diagnosis of pancreatic cancer but the results from epidemiologic studies are very limited. CYP17A gene has a role in disease formation but its influence on pancreatic cancer is unclear.

Associations of Most Prevalent Risk Factors with Lung Cancer and Their Impact on Survival Length.

Lung cancer is one of the most common malignancies in the world. Its incidence and mortality rates are on the rise in Pakistan. However, epidemiological studies to identify common lung cancer determinants in the Pakistani population have been limited.

Evaluation of the p53 Arg72Pro polymorphism and its association with cancer risk: a HuGE review and meta-analysis.

Codon 72 is a hotspot of polymorphisms in the TP53 gene, which encodes a hub protein in the protein-protein interaction network of p53. It is thus a central player in the apoptotic pathway, preventing cancer. A large number of articles have been published exploring its association with an increased susceptibility to most common cancers.

Association of the rs1042522 polymorphism with increased risk of prostate adenocarcinoma in the Pakistani population and its HuGE review.

Prostate adenocarcinoma is one of the leading causes of cancer related mortality in men but still limited knowledge is available about its associated functional SNPs including rs1042522 (Pro72Arg). The present study was undertaken to explore the association of this SNP with susceptibility to prostate adenocarcinoma along with its structural and functional impacts in the Pakistani population in a case-control study. Three-dimensional structure of human TP53 with Pro72Arg polymorphism was predicted through homology modeling, refined and validated for detailed structure-based assessment.

Study of PKRBD in HCV genotype 3a infected patients in response to interferon therapy in Pakistani population.

Background: Hepatitis C virus (HCV) is a major cause of liver cirrhosis and hepatocellular carcinoma and infects about 3% world population. Response to interferon therapy depends upon the genotype of the virus and factors associated with the host. Despite a good response to interferon therapy, a considerable number of genotype 3a infected patients remains unalleviated.

Effect of missense mutations on structure and interaction of anaplastic Lymphoma kinase (ALK) in neuroblastom.

Neuroblastoma is a cancer of the sympathetic nervous system, accounting for upto 15% of childhood cancer mortality. It can occur in many areas but most of them begin in the abdomen in the adrenal gland and can spread to the bones and other areas. http://en.

Receptor modification as a therapeutic approach against viral diseases.

Poliovirus causes flaccid paralysis through the destruction of motor neurons in the CNS. Susceptibility to its infection is mainly due to the interaction in between the surface capsid proteins and its receptors on the host cell surface, important for binding, penetration and other necessary events during early infection. Receptor modification is a new approach to treat viral diseases by the modification of target proteins structure.

Sequence and structure based assessment of nonsynonymous SNPs in hypertrichosis universalis.

Hairs are complex structures, making a protective layer and serves different biological functions. TRPS1, a transcription factor is one of the candidate genes causing congenital hypertrichosis, an excessive hair growth at inappropriate body parts. SNPs of TRPS1 were retrieved from dbSNP which were screened by SIFT and PolyPhen servers based on their functional impacts.

Abberent expression analysis of LMNA gene in hutchinson-gilford progeria syndrome.

Hutchinson-Gilford progeria syndrome (HGPS) is caused by de novo dominant point mutations of the genes encoding nuclear lamina proteins, leading towards premature aging. A protein sequence is subjected to mutations in nature which can affect the function and folding pattern of the protein by different ways. Mutations involved in HGPS were identified and were substituted in the seed sequence retrieved from the UniProt database to get the mutated versions.