UHS-Dept

Research Publications of Human Genetics


  • Shahzad K, Bock F, Al-Dabet MM, Gadi I, Kohli S, Nazir S, Ghosh S, Ranjan S, Wang H, Madhusudhan T, Nawroth PP and Isermann B. Caspase-1, but Not Caspase-3, Promotes Diabetic Nephropathy. J Am Soc Nephrol. 2016;27:2270-5.

  • Shahzad K, Bock F, Al-Dabet MM, Gadi I, Nazir S, Wang H, Kohli S, Ranjan S, Mertens PR, Nawroth PP and Isermann B. Stabilization of endogenous Nrf2 by minocycline protects against Nlrp3-inflammasome induced diabetic nephropathy. Sci Rep. 2016;6:34228.

  • Kohli S, Ranjan S, Hoffmann J, Kashif M, Daniel EA, Al-Dabet MM, Bock F, Nazir S, Huebner H, Mertens PR, Fischer KD, Zenclussen AC, Offermanns S, Aharon A, Brenner B, Shahzad K, Ruebner M and Isermann B. Maternal extracellular vesicles and platelets promote preeclampsia via inflammasome activation in trophoblasts. Blood. 2016;128:2153-2164.

  • Wolter J, Schild L, Bock F, Hellwig A, Gadi I, Al-Dabet MM, Ranjan S, Ronicke R, Nawroth PP, Petersen KU, Mawrin C, Shahzad K and Isermann B. Thrombomodulin-dependent protein C activation is required for mitochondrial function and myelination in the central nervous system. J Thromb Haemost. 2016;14:2212-2226.

  • Madhusudhan T, Wang H, Dong W, Ghosh S, Bock F, Thangapandi VR, Ranjan S, Wolter J, Kohli S, Shahzad K, Heidel F, Krueger M, Schwenger V, Moeller MJ, Kalinski T, Reiser J, Chavakis T and Isermann B. Defective podocyte insulin signalling through p85-XBP1 promotes ATF6-dependent maladaptive ER-stress response in diabetic nephropathy. Nat Commun. 2015;6:6496.

  • Dong W*, Wang H*, Shahzad K*, Bock F, Al-Dabet MM, Ranjan S, Wolter J, Kohli S, Hoffmann J, Dhople VM, Zhu C, Lindquist JA, Esmon CT, Grone E, Grone HJ, Madhusudhan T, Mertens PR, Schluter D and Isermann B. Activated Protein C Ameliorates Renal Ischemia-Reperfusion Injury by Restricting Y-Box Binding Protein-1 Ubiquitination. * equal contributing first author J Am Soc Nephrol. 2015;26:2789-99.

  • Shahzad K, Bock F, Dong W, Wang H, Kopf S, Kohli S, Al-Dabet MM, Ranjan S, Wolter J, Wacker C, Biemann R, Stoyanov S, Reymann K, Soderkvist P, Gross O, Schwenger V, Pahernik S, Nawroth PP, Grone HJ, Madhusudhan T and Isermann B. Nlrp3-inflammasome activation in non-myeloid-derived cells aggravates diabetic nephropathy. Kidney Int. 2015;87:74-84.

  • Bock F, Shahzad K, Vergnolle N and Isermann B. Activated protein C based therapeutic strategies in chronic diseases. Thromb Haemost. 2014;111:610-7.

  • Wang H, Vinnikov I, Shahzad K, Bock F, Ranjan S, Wolter J, Kashif M, Oh J, Bierhaus A, Nawroth P, Kirschfink M, Conway EM, Madhusudhan T and Isermann B. The lectin-like domain of thrombomodulin ameliorates diabetic glomerulopathy via complement inhibition. Thromb Haemost. 2012;108:1141-53.

  • Munir Ahmad Bhinder, Muhammad Yasir Zahoor, Haleema Sadia, Muhammad Qasim, Rukhsana Perveen, Ghulam Murtaza Anjum, Muhammad Iqbal, Najeeb Ullah, Ali Muhammad Waryah (2018). SE33 locus as reliable genetic marker for forensic DNA analysis system. Accepted in Turkish Journal of Medical Sciences.

  • Munir Ahmad Bhinder (2017). Consanguineous Marriage: A Peril for Coming Generation. Journal of Genetic Disorders. Vol.1 No.1:08.

  • Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Khushnooda Ramzan, Munir Ahmad Bhinder, Hussain Shakeel, Muhammad Iqbal, Asim Aslam, Wasim Shehzad, Huma Arshad Cheema, Habib ur Rehman (2017). Genetic analysis of FBPase deficiency in nine consanguineous Pakistani families. Journal of pediatric endocrinology & metabolism: 30 (11):1203-1210.

  • Munir Ahmad Bhinder, Muhammad Waqar Arshad, Muhammad Yasir Zahoor, Wasim Shehzad, Muhammad Tariq and Muhammad Imran Shabbir (2017). Junctional Epidermolysis Bullosa (non-Herlitz type). Journal of College of Physicians and Surgeons of Pakistan. 27 (5): 308-310

  • Muhammad Iqbal, Muhammad A. Baig, Munir A. Bhinder, Muhammad Y. Zahoor (2016). Factors causing mental retardation. Asian Journal of Natural & Applied Sciences: 5(3) : 28-37

  • Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Sibtain Afzal, Munir A. Bhinder, Ihsan Ullah, Huma Arshad Cheema, Khushnooda Ramzan and Wasim Shehzad (2016). Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. Journal of pediatric endocrinology & metabolism: JPEM 29(3):327-32

  • Munir Ahmad Bhinder, Muhamad Iqbal, Muhammad Shahbaz, Muhammad Yasir Zahoor, Muhammad Wasim (2015) Avian Biodiversity of Bajwat wetland District Sialkot. The Journal of Animal and Plant Sciences. 25(3 Supp. 2) 2015 Special Issue. Page: 416-422

  • Shakeela Daud, Saqib Shahzad, Muhammad Shafique, Munir Ahmad Bhinder, Muhammad Niaz, Asif Naeem, Azam Ali, Zia-ur-Rehman, Tayyab Husnain. (2014). Optimization and validation of PCR for three hypervariable regions (HVI, HVII and HVIII) in human mitochondrial DNA. Advancements in life sciences. 1(3): 165-170

  • Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K,Riazuddin S, Riazuddin S, Ahmed ZM (2013). Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Otolaryngol Head Neck Surg. (June 2013) 149(3):478-87.

  • Ali M Waryah, Zubair M Ahmed, Munir A Bhinder, Daniel I Choo, Robert A Sisk, Mohsin Shahzad, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin and Saima Riazuddin. (2011) Molecular and clinical studies of X -linked deafness among Pakistani families. Journal of Human Genetics. 56(7):534-40

  • Byung Yoon Choi, Zubair M. Ahmed, Saima Riazuddin, Munir A. Bhinder, Mohsin Shahzad, Tayyab Husnain, Sheikh Riazuddin, Andrew J Griffith, Thomas B Friedman (2009). Identities and frequencies of mutations of the Otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clinical Genetics 75(3):237-243.

  • Byung Y choi, Saima Riazuddin, Zubair M Ahmed, Uzma Shaukat, Munir A. Bhinder, Shahid Y. Khan, Sheikh Riazuddin, John A. Butman, Andrew J. Griffith, Thomas B. Friedman. (2010) Variable Expressivity of FGF3 Mutations Associated with Deafness and LAMM Syndrome. Abstract# 1006, Volume:33 Page: 345 [Abstract published in Abstract book of 33rd ARO midwinter meeting, in Anaheim, USA]

  • Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K,Riazuddin S, Riazuddin S, Ahmed ZM (2013). Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Otolaryngol Head Neck Surg. 149(3):478-87.

  • Raza A, Firasat S, Khaliq S, Abid A, Shah SS, Mehdi SQ, Mohyuddin A. (2013) HLA class I and II polymorphisms in the Gujjar population from Pakistan. Immunol Invest. 42(8):691-700.

  • Ahmad, G., Ramadori, P., Martius, G., Sial, G.Z. and Ramadori, G., Transcriptional and translational regulation of HO-1 in the liver and muscle of TO- & LPS-treated IL-6 knockout mice., Antioxidants & Redox Signaling., Article in review.

  • Fatima S, Usman Z, Ali A, Mehmood S, Khaliq S. (2013) Analysis Of Inhibin Alpha (769g>A) Gene Mutations in Patients with Premature Ovarian Failure; Int. Conf. App. Mol. Biol. Med. pp98.

  • Usman Z, Fatima S, Ali A, Mehmood S, Khaliq S. (2013) Sequence analysis of Bone Morphogenetic Protein 15 (BMP15) Gene in patients of Premature Ovarian Failure. Int. Conf. App. Mol. Biol. Med. pp141.

  • Ejaz H, Ul-Haq I, Mahmood S, Zafar A, Mohsin Javed M.(2013) Detection of extended-spectrum ?-lactamases in Klebsiella pneumoniae: comparison of phenotypic characterization methods. Pak J Med Sci. 29(3):768-72.

  • Firasat S, Raza A, Abid A, Aziz T, Mubarak M, Naqvi SA, Rizvi SA, Mehdi SQ, Khaliq S. The effect of chemokine receptor gene polymorphisms (CCR2V64I, CCR5-59029G>A and CR5?32) on renal allograft survival in Pakistani transplant patients. Gene. 11(2):314-319 (2012).

  • Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet. 21(16)3681-3694 (2012).

  • Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SA, Mehdi SQ. A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene. 2012 Jul 10;502(2):133-7. Epub 2012 Apr 28.

  • Ajaz S, Khaliq S, Hashmi A, Rizvi SAH, Mehdi SQ. Polymorphisms in the Methylene Tetrahydrofolate Reductase Gene and their Unique Combinations are Associated with an Increased Susceptibility to the Renal Cell Carcinomas. Genet Test Mol Biomarkers. May;16(5):346-352 (2012).

  • Shahid S, Abid A, Mehdi SQ, Firasat S, Lanewala A, Naqvi SAA, Rizvi SAH, Khaliq S. Association of the ACE – II genotype with the risk of nephrotic syndrome in Pakistani children, Gene. 493:165-168 (2012).

  • Hajan S.S, Abid A, Shahid S, Khaliq S. Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype. J Pak Med Assoc. 61( 11) :1060-1064 (2011).

  • Ajaz S, Khaliq S, Abid A, Hassan AS, Hashmi A, Sultan G, Mohsin R, Mubarrak M, Naqvi SA, Rizvi SA, Mehdi SQ. Association of a Single-Nucleotide Polymorphism in the Promoter Region of the VEGF Gene with the Risk of Renal Cell Carcinoma. Genet Test Mol Biomarkers. 15(9): 653-657(2011).

  • Abid A, Akhtar N, Khaliq S, Mehdi SQ. Genetic heterogeneity for autosomal dominant familial hypertrophic cardiomyopathy in a Pakistani family. J Coll Physicians Surg. Pak. Apr;21(4):202-206. (2011).