Full Text Journal Articles by
Author Maleeha Azam

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Effect of gasotransmitters treatment on expression of hypertension, vascular and cardiac remodeling and hypertensive nephropathy genes in left ventricular hypertrophy.

Ashfaq Ahmad, Zainab Riaz, Munavvar Abdul Sattar, Safia Akhtar Khan, Edward James John, Sumbal Rashid, Syed Tahir Abbas Shah, Muhammad Arshad Rafiq, Maleeha Azam, Raheel Qamar,

BACKGROUND:Cardiac and renal dysfunction are often co-morbid pathologies leading to worsening prognosis resulting in difficulty in therapy of left ventricular hypertrophy (LVH). The aim of the current study was to determine the changes in expression of human ortholog genes of hypertension, vascular and cardiac remodeling and hypertensive nephropathy phenotypes under ... Read more >>

Gene (Gene)
[2020, 737:144479]

Cited: 0 times

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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Sohail A Paracha, Maleeha Azam, Ilse Kern, Justyna Iwaszkiewicz, Omer Farooq, Constantin J Pournaras, Ariane Malcles, Mateusz Kecik, Carlo Rivolta, Waqar Muzaffar, Aziz Qurban, Liaqat Ali, Yacine Aggoun, Federico A Santoni, Periklis Makrythanasis, Jawad Ahmed, Raheel Qamar, Muhammad T Sarwar, L Keith Henry, Stylianos E Antonarakis,

In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared with normal. Three-dimensional modeling of this variant has indicated that it likely causes displacement of the ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, 29(4):618-623]

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Association of IGF1 and VEGFA polymorphisms with diabetic retinopathy in Pakistani population.

Netasha Khan, Andrew D Paterson, Delnaz Roshandel, Ali Raza, Muhammad Ajmal, Nadia K Waheed, Maleeha Azam, Raheel Qamar,

AIMS:The incidence of microvascular complications, including diabetic retinopathy (DR), increases with duration of type 2 diabetes (T2D). Meta-GWAS have reported numerous single-nucleotide polymorphisms (SNPs) associated with T2D; however, no loci, achieving genome-wide significance has been reported for DR. Vascular endothelial growth factor A (VEGFA) and insulin-like growth factor 1 (IGF1) ... Read more >>

Acta Diabetol (Acta diabetologica)
[2020, 57(2):237-245]

Cited: 0 times

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Implementation of public health genomics in Pakistan.

Moeen Riaz, Jane Tiller, Muhammad Ajmal, Maleeha Azam, Raheel Qamar, Paul Lacaze,

There has been considerable recent progress in the implementation of public health genomics policy throughout the developed world. However, in the developing world, genetic services still remain limited, or unavailable to most. Here, we discuss challenges and opportunities related to the implementation of public health genomics in developing countries. We ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2019, 27(10):1485-1492]

Cited: 1 time

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Animal model and therapeutic prospects for left ventricular hypertrophy and associated renal complication

Ashfaq Ahmad, Zainab Riaz, Munavvar Abdul Sattar, Safia Akhtar Khan, Edward James John, Sumbal Arshad, Syed Tahir Abbas Shah, Muhammad Arshad Rafiq, Maleeha Azam, Raheel Qamar,

Abstract Cardiac and renal dysfunction often co-occur and considerably worsen the prognosis leading to difficulty in therapy in left ventricular hypertrophy (LVH). The aim of this study was to elucidate changes in expression of human ortholog genes of hypertension, vascular and cardiac remodeling and hypertensive nephropathy phenotypes under normal, disease ... Read more >>

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Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population.

Humaira Ayub, Sobia Shafique, Aisha Azam, Irfan Muslim, Nauman A Qazi, Farah Akhtar, Muhammad Asim Khan, Adil Ayub, Shaheena Bashir, Bjorn Bakker, Shakil Ahmed, Maleeha Azam, Anneke I den Hollander, Raheel Qamar,

Age-related macular degeneration (AMD) is a disease of the elderly in which central vision is lost because of degenerative changes of the macula. The current study investigated the association of single-nucleotide polymorphisms (SNPs) with AMD in the Pakistani population. Four SNPs were analyzed in this study: rs1061170 in the CFH, ... Read more >>

Ann. Hum. Genet. (Annals of human genetics)
[2019, 83(4):285-290]

Cited: 0 times

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Molecular Mechanisms of Complement System Proteins and Matrix Metalloproteinases in the Pathogenesis of Age-Related Macular Degeneration.

Naima Mansoor, Fazli Wahid, Maleeha Azam, Khadim Shah, Anneke I den Hollander, Raheel Qamar, Humaira Ayub,

Age-related macular degeneration (AMD) is an eye disorder affecting predominantly the older people above the age of 50 years in which the macular region of the retina deteriorates, resulting in the loss of central vision. The key factors associated with the pathogenesis of AMD are age, smoking, dietary, and genetic ... Read more >>

Curr. Mol. Med. (Current molecular medicine)
[2019, 19(10):705-718]

Cited: 2 times

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Role of Nitric Oxide in the Cardiovascular and Renal Systems.

Ashfaq Ahmad, Sara K Dempsey, Zdravka Daneva, Maleeha Azam, Ningjun Li, Pin-Lan Li, Joseph K Ritter,

The gasotransmitters are a family of gaseous signaling molecules which are produced endogenously and act at specific receptors to play imperative roles in physiologic and pathophysiologic processes. As a well-known gasotransmitter along with hydrogen sulfide and carbon monoxide, nitric oxide (NO) has earned repute as a potent vasodilator also known ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2018, 19(9):]

Cited: 13 times

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CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.

Shahnaz Ibrahim, Saadia Maqbool, Maleeha Azam, Mohammad Perwaiz Iqbal, Raheel Qamar,

Three index patients with hyperhomocysteinemia and ocular anomalies were screened for cystathionine beta synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms. Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. Sanger sequencing was performed for CBS exonic sequences along with consensus splice ... Read more >>

Mol. Biol. Rep. (Molecular biology reports)
[2018, 45(3):353-360]

Cited: 1 time

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Interaction between nitric oxide and renal α1-adrenoreceptors mediated vasoconstriction in rats with left ventricular hypertrophyin Wistar Kyoto rats.

Ashfaq Ahmad, Munavvar A Sattar, Maleeha Azam, Safia A Khan, Owais Bhatt, Edward J Johns,

Left ventricular hypertrophy (LVH) is associated with decreased responsiveness of renal α1-adrenoreceptors subtypes to adrenergic agonists. Nitric oxide donors are known to have antihypertrophic effects however their impact on responsiveness of renal α1-adrenoreceptors subtypes is unknown. This study investigated the impact of nitric oxide (NO) and its potential interaction with ... Read more >>

PLoS One (PloS one)
[2018, 13(2):e0189386]

Cited: 3 times

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A 3' untranslated region polymorphism rs2304277 in the DNA repair pathway gene OGG1 is a novel risk modulator for urothelial bladder carcinoma.

Tayyaba Ahmed, Saira Nawaz, Rabia Noreen, Kashif Sardar Bangash, Abdur Rauf, Muhammad Younis, Khursheed Anwar, Muhammad Athar Khawaja, Maleeha Azam, Abid Ali Qureshi, Saeed Akhter, Lambertus A Kiemeney, Raheel Qamar, Syeda Hafiza Benish Ali,

Altered DNA repair capacity may affect an individual's susceptibility to cancers due to compromised genomic integrity. This study was designed to elucidate the association of selected polymorphisms in DNA repair genes with urothelial bladder carcinoma (UBC). OGG1 rs1052133 and rs2304277, XRCC1 rs1799782 and rs25487, XRCC3 rs861539, XPC rs2228001, and XPD ... Read more >>

Ann. Hum. Genet. (Annals of human genetics)
[2018, 82(2):74-87]

Cited: 1 time

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Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population.

Syeda Hafiza Benish Ali, Kashif Sardar Bangash, Abdur Rauf, Muhammad Younis, Khursheed Anwar, Raja Khurram, Muhammad Athar Khawaja, Maleeha Azam, Abid Ali Qureshi, Saeed Akhter, Lambertus A Kiemeney, Raheel Qamar,

Urothelial bladder carcinoma (UBC) is the most common among urinary bladder neoplasms. We carried out a preliminary study to determine the genetic etiology of UBC in Pakistani population, for this 25 sequence variants from 17 candidate genes were studied in 400 individuals by using polymerase chain reaction-based techniques. Multivariate logistic ... Read more >>

Fam. Cancer (Familial cancer)
[2017, 16(4):577-594]

Cited: 4 times

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TNF-α Genetic Predisposition and Higher Expression of Inflammatory Pathway Components in Keratoconus.

Muneeza Arbab, Saira Tahir, Muhammad Khizar Niazi, Mazhar Ishaq, Alamdar Hussain, Pir Muhammad Siddique, Sadia Saeed, Wajid Ali Khan, Raheel Qamar, Azeem Mehmood Butt, Maleeha Azam,

To date keratoconus (KC) pathogenesis is undefined; however, the involvement of inflammatory pathways in disease development is becoming apparent. In the present study, we investigated the role of a promoter region polymorphism rs1800629 (-308G>A) in the inflammatory pathway component TNF-α and its effects on the expression of TNF-α and downstream ... Read more >>

Invest. Ophthalmol. Vis. Sci. (Investigative ophthalmology & visual science)
[2017, 58(9):3481-3487]

Cited: 5 times

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Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Maleeha Maria, Ideke J C Lamers, Miriam Schmidts, Muhammad Ajmal, Sulman Jaffar, Ehsan Ullah, Bilal Mustafa, Shakeel Ahmad, Katia Nazmutdinova, Bethan Hoskins, Erwin van Wijk, Linda Koster-Kamphuis, Muhammad Imran Khan, Phil L Beales, Frans P M Cremers, Ronald Roepman, Maleeha Azam, Heleen H Arts, Raheel Qamar,

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell's signaling hub. In the current study, a combination of mutation ... Read more >>

Sci Rep (Scientific reports)
[2016, 6:34764]

Cited: 6 times

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Up Regulation of cystathione γ lyase and Hydrogen Sulphide in the Myocardium Inhibits the Progression of Isoproterenol-Caffeine Induced Left Ventricular Hypertrophy in Wistar Kyoto Rats.

Ashfaq Ahmad, Munavvar A Sattar, Hassaan A Rathore, Mohammed H Abdulla, Safia A Khan, Maleeha Azam, Nor A Abdullah, Edward J Johns,

Hydrogen sulphide (H2S) is an emerging molecule in many cardiovascular complications but its role in left ventricular hypertrophy (LVH) is unknown. The present study explored the effect of exogenous H2S administration in the regression of LVH by modulating oxidative stress, arterial stiffness and expression of cystathione γ lyase (CSE) in ... Read more >>

PLoS ONE (PloS one)
[2016, 11(3):e0150137]

Cited: 5 times

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Cystathione gamma lyase/Hydrogen Sulphide Pathway Up Regulation Enhances the Responsiveness of α1A and α1B-Adrenoreceptors in the Kidney of Rats with Left Ventricular Hypertrophy.

Ashfaq Ahmad, Munavvar A Sattar, Maleeha Azam, Mohammed H Abdulla, Safia A Khan, Fayyaz Hashmi, Nor A Abdullah, Edward J Johns,

The purpose of the present study was to investigate the interaction between H2S and NO (nitric oxide) in the kidney and to evaluate its impact on the functional contribution of α1A and α1B-adrenoreceptors subtypes mediating the renal vasoconstriction in the kidney of rats with left ventricular hypertrophy (LVH). In rats ... Read more >>

PLoS ONE (PloS one)
[2016, 11(5):e0154995]

Cited: 2 times

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Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.

Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, Katharina Dannhausen, Maleeha Azam, Raheel Qamar, Bart P Leroy, Fanny Depasse, Thomas Langmann, Elfride De Baere,

The aim of this study was to unravel the molecular pathogenesis of an unusual retinitis pigmentosa (RP) phenotype observed in a Turkish consanguineous family. Homozygosity mapping revealed two candidate genes, SAMD7 and RHO. A homozygous RHO mutation c.448G > A, p.E150K was found in two affected siblings, while no coding ... Read more >>

Sci Rep (Scientific reports)
[2016, 6:21307]

Cited: 5 times

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Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy.

Saba Saleem, Aisha Azam, Sundus Ijaz Maqsood, Irfan Muslim, Shaheena Bashir, Nosheen Fazal, Moeen Riaz, Syeda Hafiza Benish Ali, Muhammad Khizar Niazi, Mazhar Ishaq, Nadia Khalida Waheed, Raheel Qamar, Maleeha Azam,

In the present study we determined the association of angiotensin converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms with diabetic retinopathy (DR) and its sub-clinical classes in Pakistani type 2 diabetic patients. A total of 353 diabetic subjects including 160 DR and 193 diabetic non retinopathy (DNR) as ... Read more >>

PLoS One (PloS one)
[2015, 10(12):e0144557]

Cited: 8 times

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Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.

Celia Zazo Seco, Arnaud P Giese, Sobia Shafique, Margit Schraders, Anne M M Oonk, Mike Grossheim, Jaap Oostrik, Tim Strom, Rashmi Hegde, Erwin van Wijk, Gregory I Frolenkov, Maleeha Azam, Helger G Yntema, Rolien H Free, Saima Riazuddin, Joke B G M Verheij, Ronald J Admiraal, Raheel Qamar, Zubair M Ahmed, Hannie Kremer,

Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin. Besides, the previously reported c.272 T>C functional missense variant in CIB2 ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2016, 24(4):542-549]

Cited: 9 times

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Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I den Hollander, Lonneke Haer-Wigman, Rob W J Collin, Muhammad Imran Khan, Raheel Qamar, Frans P M Cremers,

BACKGROUND:Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases ... Read more >>

PLoS One (PloS one)
[2015, 10(3):e0119806]

Cited: 9 times

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Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

Zehra Agha, Zafar Iqbal, Maleeha Azam, Humaira Ayub, Lisenka E L M Vissers, Christian Gilissen, Syeda Hafiza Benish Ali, Moeen Riaz, Joris A Veltman, Rolph Pfundt, Hans van Bokhoven, Raheel Qamar,

Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals with ID identified novel genes implicated in the disease. Therefore the purpose of the present study was to identify the genetic cause of ID in one syndromic and two non-syndromic Pakistani families. ... Read more >>

PLoS ONE (PloS one)
[2014, 9(11):e112687]

Cited: 7 times

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The molecular basis of retinal dystrophies in pakistan.

Muhammad Imran Khan, Maleeha Azam, Muhammad Ajmal, Rob W J Collin, Anneke I den Hollander, Frans P M Cremers, Raheel Qamar,

The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease. RDs are the most frequent cause of inherited blindness worldwide. To ... Read more >>

Genes (Basel) (Genes)
[2014, 5(1):176-195]

Cited: 10 times

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Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar,

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened ... Read more >>

PLoS One (PloS one)
[2014, 9(6):e100146]

Cited: 26 times

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A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Zehra Agha, Zafar Iqbal, Maleeha Azam, Maimoona Siddique, Marjolein H Willemsen, Tjitske Kleefstra, Christiane Zweier, Nicole de Leeuw, Raheel Qamar, Hans van Bokhoven,

We report on a consanguineous Pakistani family with a severe congenital microcephaly syndrome resembling the Seckel syndrome and Jawad syndrome. The affected individuals in this family were born to consanguineous parents of whom the mother presented with mild intellectual disability (ID), epilepsy and diabetes mellitus. The two living affected brothers ... Read more >>

Gene (Gene)
[2014, 538(1):30-35]

Cited: 5 times

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A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

Muhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, Yar Muhammad Khan, Maleeha Azam, Nadia Khalida Waheed, Christian P Hamel, Tamar Ben-Yosef, Elfride De Baere, Robert K Koenekoop, Rob W J Collin, Raheel Qamar, Frans P M Cremers,

Retinitis pigmentosa (RP) is the most frequent inherited retinal disease, which shows a relatively high incidence of the autosomal-recessive form in Pakistan.Genome-wide high-density single-nucleotide polymorphism (SNP) microarrays were used to identify homozygous regions shared by affected individuals of one consanguineous family. DNA of three affected and two healthy siblings was ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2014, 51(7):444-448]

Cited: 21 times

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