Article
Genetics & Heredity
Zureesha Sajid, Sairah Yousaf, Yar M. Waryah, Tauqeer A. Mughal, Tasleem Kausar, Mohsin Shahzad, Ali R. Rao, Ansar A. Abbasi, Rehan S. Shaikh, Ali M. Waryah, Saima Riazuddin, Zubair M. Ahmed
Summary: The study highlights the potential presence of pathological variants causing OCA in different genes, attributed to inter- and intra-familial locus heterogeneity. This is particularly important for highly inbred populations.
Article
Biotechnology & Applied Microbiology
Yuanyuan Xiao, Cong Zhou, Hanbing Xie, Shuang Huang, Jing Wang, Shanling Liu
Summary: This study identified multiple mutations in TYR and OCA2 in 18 OCA patients from southwest China, including two novel variants. The identification of these mutations is important for genetic counseling and disease management.
Article
Medical Laboratory Technology
Ma Thi Huyen Thuong, Luong Thi Lan Anh, Vu Phuong Nhung, Tran Thi Bich Ngoc, Hoang Thu Lan, Doan Kim Phuong, Nguyen Hai Ha, Nong Van Hai, Nguyen Dang Ton
Summary: This study identified a novel TYR gene mutation associated with oculocutaneous albinism, providing a scientific basis for the diagnosis and genetic counseling for at-risk couples.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Genetics & Heredity
Zilin Zhong, Zheng Zhou, Jianjun Chen, Jun Zhang
Summary: This study identified mutational alleles in a group of OCA patients through molecular analysis and predicted their pathogenicity. The study also reported three OCA cases for the first time in the Chinese population and identified two novel mutations.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, General & Internal
Muhammad Ikram Ullah, Muhammad Shakil, Adnan Riaz
Summary: The aim of this study was to recruit families with congenital oculocutaneous albinism (OCA) and identify mutations in the TYR and OCA2 genes, expanding the mutation spectrum. The findings revealed a common association of TYR and OCA2 mutations with consanguinity in the Pakistani population, aiding in genetic counseling and diagnostic outcomes.
PAKISTAN JOURNAL OF MEDICAL & HEALTH SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Camilla Rocca, Lucia Tiberi, Sara Bargiacchi, Viviana Palazzo, Samuela Landini, Elisa Marziali, Roberto Caputo, Francesca Tinelli, Viviana Marchi, Alessandro Benedetto, Angelica Pagliazzi, Giacomo Maria Bacci
Summary: This article provides a retrospective review of clinical data of patients with albinism and explores the relationship between genotype and phenotype. The study confirms the pathogenicity of common gene mutations and suggests the importance of comprehensive characterization in patients with isolated foveal hypoplasia for accurate diagnosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Beilei Jiang, Hua Zhang, Yuling Kan, Xueping Gao, Zhaoli Du, Quan Liu
Summary: This study reports on a Chinese family with OCA and identifies two novel variants in the OCA2 gene. By expanding the mutation spectrum of the gene, this finding contributes to a better understanding of the genetic basis of OCA.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Stacie K. Loftus, Linnea Lundh, Dawn E. Watkins-Chow, Laura L. Baxter, Erola Pairo-Castineira, Ian J. Jackson, William S. Oetting, William J. Pavan, David R. Adams
Summary: Oculocutaneous albinism (OCA) is a heritable disorder of pigment production, and a complex structural variant (CxSV) in the OCA2 gene involving a 143 kb inverted segment has been identified as a potential genetic cause in some affected individuals. This discovery highlights the importance of comprehensive genetic testing for a complete molecular diagnosis in individuals with OCA who do not have identifiable mutations in known OCA genes.
Article
Zoology
Hadia Gul, Abdul Haleem Shah, Ricardo Harripaul, Anna Mikhailov, Ejaz Ullah Khan, Wasim Shah, Nisar Ahmad, John B. Vincent, Muzammil Ahmad Khan
Summary: Oculocutaneous albinism (OCA) is a rare genetic disorder characterized by reduced pigmentation in hair, skin, and eyes. A study on a consanguineous family from Pakistan identified a novel mutation in the OCA2 gene, supporting the high incidence of OCA2 gene mutations in Pakistani families.
PAKISTAN JOURNAL OF ZOOLOGY
(2022)
Review
Dermatology
Emily Z. Ma, Albert E. Zhou, Karl M. Hoegler, Amor Khachemoune
Summary: Oculocutaneous albinism is a rare genetic disorder characterized by reduced melanin biosynthesis, leading to hypopigmented skin, eyes, and hair, as well as ocular manifestations. It is most prevalent in African countries. Individuals with oculocutaneous albinism are more susceptible to skin damage and skin cancers due to lack of UV protection. Psychosocial factors and poor education contribute to the challenges faced by African albino individuals in seeking skin cancer treatment and sun damage prevention.
ARCHIVES OF DERMATOLOGICAL RESEARCH
(2023)
Article
Integrative & Complementary Medicine
Bei Xu, Xiaofei Chen, Hongyi Li
Summary: This study investigates the types of oculocutaneous albinism (OCA) and mutations in the Chinese population. The results show that OCA1 is the most common type of albinism in China. The study provides valuable insights for identifying new therapeutic targets.
ALTERNATIVE THERAPIES IN HEALTH AND MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Fehmida F. Khan, Naima Khan, Sakina Rehman, Amir Ejaz, Uzma Ali, Muhammad Erfan, Zubair M. Ahmed, Muhammad Naeem
Summary: This study identified the underlying genetic causes of EB phenotypes in seven large consanguineous families from different regions of Pakistan, revealing multiple pathogenic variants and reporting the first case of recessively inherited EBS-Ogna associated with a homozygous variant in the PLEC gene. The research highlights the clinical and genetic diversity of EB in the Pakistani population and expands the mutation spectrum of EB, providing potential benefits for prenatal diagnosis and genetic counseling.
Article
Oncology
Shuhan Si, Xueyuan Jia, Lidan Xu, Qian Qin, Jie Wu, Wei Ji, Kexian Dong, Xuelong Zhang, Lin Cao, Hao Wang, Peng Liu, Rongrong Wang, Jing Bai, Songbin Fu, Yun Huang, Wenjing Sun
Summary: This study aimed to identify the genetic variants of a northern Chinese family with OCA1. A missense variant c.107G > C:p.C36S and an intron variant c.1037-7 T > A:p.G346Efs*11 in TYR gene were discovered and confirmed as the pathogenic variants for this OCA1 family.
PIGMENT CELL & MELANOMA RESEARCH
(2023)
Article
Genetics & Heredity
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid M. Baig, Peter Nuernberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Summary: Intellectual disability (ID) is a condition characterized by significant limitations in cognitive functioning and adaptive behavior, with genetic predisposition accounting for 50% of the etiology. In this study, two consanguineous Pakistani families presenting severe ID and developmental delay were recruited. Whole exome sequencing (WES) was performed on the probands and variants were prioritized based on population frequency, predicted pathogenicity, and functional relevance. Homozygous pathogenic variants in the genes MBOAT7 and TRAPPC9 were identified through WES data analysis. The pathogenicity of these variants was supported by co-segregation analysis and in silico tools. This study expands the mutation spectrum and provides additional evidence for the involvement of MBOAT7 and TRAPPC9 in the development of ID.
Article
Genetics & Heredity
Linya Ma, Jianjian Zhu, Jing Wang, Yazhou Huang, Jibo Zhang, Chao Wang, Yuan Zhou, Dan Peng
Summary: This study identified 31 variants in 28 Chinese OCA2 families, including 12 novel variants, and highlighted the potential role of a cluster of missense variants in OCA2 pathogenesis. These findings contribute to the diagnosis and management of OCA2-related disorders.
FRONTIERS IN GENETICS
(2021)
Article
Biology
Muhammad Farhat Ullah, Absar Ali, Aqsa Majeed, Aqsa Ijaz, Abdulla Albastaki, Muhammad Ijaz Khan, Muhammad Ramzan Khan, Huda Ahmed Alghamdi, Mohammed Abdulrahman Alshahrani
Summary: This study aimed to estimate the population and mutational parameters of 13 RM Y-STRs markers in 13 unrelated males born in Gilgit, Pakistan. The results showed that these markers have high mutation rates and strong discriminating capacity. However, further research is needed to better characterize these markers in diverse Pakistani groups.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Review
Computer Science, Information Systems
Muhammad Samiullah, Waqar Aslam, Muhammad Asghar Khan, Haya Mesfer Alshahrani, Hany Mahgoub, Ako Muhammad Abdullah, M. Ikram Ullah, Chien-Ming Chen
Summary: This article introduces the issues in image encryption schemes, such as inefficient encryption architectures, nonstandard formats of image datasets, weak randomness of chaos-based PRNGs, omitted S-boxes, and unconvincing security metrics. It proposes a new taxonomy of image encryption based on chaotic systems, hyperchaotic systems, and DNA to assess the impact of these issues on performance and security metrics. The research focuses on studying recent encryption architectures using various confusion and diffusion methods, and evaluating their performance and security using a cipher rating criterion that categorizes ciphers into different classes.
WIRELESS COMMUNICATIONS & MOBILE COMPUTING
(2022)
Review
Biochemistry & Molecular Biology
Muhammad Atif, Abdullah Alsrhani, Farrah Naz, Muhammad Ikram Ullah, Ayman Ali Mohammed Alameen, Muhammad Imran, Hasan Ejaz
Summary: The adenosine nucleoside has diverse effects on human tissues through the activation of various cell surface receptors, particularly the A(2A) adenosine receptors. These receptors are involved in regulating vasodilation, platelet function, protection against ischemic damage, and the modulation of sensorimotor neurons in the basal ganglia. A(2A) receptors also have negative regulatory effects on the antitumor and proinflammatory actions of activated T cells. Inhibition of the adenosinergic pathway, particularly the A(2A) adenosine receptors, holds promise as a target for future immunotherapeutic strategies to enhance antitumor immunity.
MOLECULAR BIOLOGY REPORTS
(2022)
Review
Genetics & Heredity
Muhammad Ikram Ullah
Summary: Oculocutaneous albinism is an autosomal recessive genetic disorder characterized by a lack of melanin pigment in the skin, hair, and eyes. In the Pakistani population, this condition is common and has been associated with consanguineous marriages. Various genetic mutations have been identified in different types of albinism in Pakistani families.
Article
Energy & Fuels
Aftab Rafiq, Saimoon Tehseen, Taskeen Ali Khan, Muhammad Awais, Asma Rabbani Sodhozai, Chaudhary Hassan Javed, Muhammad Farhat Ullah, Naeem Ali, Mohammad Y. Alshahrani, M. Ijaz Khan, Ahmed M. Galal
Summary: The effectiveness of antibiotic therapy is diminishing due to the widespread bacterial antimicrobial resistance, posing a threat to human and animal health. To combat this global health problem, the implementation of new antimicrobial strategies, such as nanotechnology, is becoming necessary. In this study, chitosan-based hydrogels were used to carry biosynthesized silver nanoparticles for infection control and fast wound healing. The nanoparticles showed effective antimicrobial properties against various microbes, and the nanoparticle-loaded hydrogels effectively controlled bacterial infection and promoted wound healing without scar formation.
BIOMASS CONVERSION AND BIOREFINERY
(2022)
Review
Biochemistry & Molecular Biology
Muhammad Ikram Ullah, Ayman Ali Mohammed Alameen, Ziad H. Al-Oanzi, Lienda Bashier Eltayeb, Muhammad Atif, Muhammad Usman Munir, Hasan Ejaz
Summary: Liver cirrhosis is a complication of persistent chronic liver disease and is associated with mechanisms such as hypoalbuminemia, impaired amino acid turnover, and micronutrient deficiencies. Zinc, an essential micronutrient, plays a critical role in cellular metabolism and is involved in various biological processes. Abnormalities in liver function can lead to zinc deficiency, which affects cellular, endocrine, immune, sensory, and skin functions.
Article
Biology
Aisha Farhana, Abdullah Alsrhani, Nazia Nazam, Muhammad Ikram Ullah, Yusuf Saleem Khan, Zafar Rasheed
Summary: Breast cancer has a high prevalence in females worldwide, and its treatment poses persistent challenges. This study explores the therapeutic potential of gold nanoparticles (AuNPs) in the regulation of microRNA and the protein MMP-9. The results show that AuNPs inhibit MMP-9 expression through the upregulation of microRNA-204-5p in breast cancer cells. Additionally, AuNPs also inhibit NF-?B activation. These findings demonstrate the novel therapeutic role of AuNPs in breast cancer.
Review
Pharmacology & Pharmacy
Ahmed Hjazi, Eishah Ghaffar, Waqas Asghar, Hasan Alauldeen Khalaf, Muhammad Ikram Ullah, Rosario Mireya Romero-Parra, Beneen M. Hussien, Adeeb Abdulally Abdulhussien Alazbjee, Yashwant Singh Bisht, Yasser Fakri Mustafa, Seyed Reza Hosseini-Fard
Summary: Long non-coding RNAs (lncRNA) have significant modulatory impacts on biological activities through altering gene transcription, epigenetic changes, and protein translation. CDKN2B-AS1, a recently discovered lncRNA, is elevated in various cancers and effectively connected to the control of critical cancer-associated biological pathways. CDKN2B-AS1 offers considerable therapeutic implications for usage as a diagnostic or treatment approach in cancer.
BIOCHEMICAL PHARMACOLOGY
(2023)
Review
Immunology
Ahmed Hjazi, Bayu Indra Sukmana, Sally Saad Ali, Hashem O. Alsaab, Jitendra Gupta, Muhammad Ikram Ullah, Rosario Mireya Romero-Parra, Ahmed H. R. Alawadi, Adeeb Abdulally Abdulhussien Alazbjee, Yasser Fakri Mustafa
Summary: The extracellular matrixes and microenvironmental signals regulate intercellular pathways and play an important role in osteogenesis. Circular RNA, a newly identified RNA, has been found to contribute to the osteogenesis process by regulating gene expression at various levels. Dysregulation of circRNAs has been observed in tumors and diseases, and their expression is changed during osteogenic differentiation. Understanding the role of circRNAs in osteogenesis can have implications for the diagnosis and treatment of bone diseases.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Biology
Muhammad Ikram Ullah, Zaira Rehman, Rubina Dad, Abdullah Alsrhani, Muhammad Shakil, Heba Bassiony Ghanem, Ayman Ali Mohammed Alameen, Mohamed Farouk Elsadek, Lienda Bashier Eltayeb, Sajjad Ullah, Muhammad Atif
Summary: This study aimed to determine the genetic basis of congenital cataract (CC) by sequencing the genes of four consanguineous families with CC. A known FYCO1 gene mutation was identified, which was predicted to affect protein activity. The findings expand the scientific knowledge of CC and provide insights for further research.
Article
Zoology
Abdullah Alsrhani, Aisha Farhana, Shahid Hussain, Muhammad Ikram Ullah
Summary: This study found that reduced serum levels of vitamin D are associated with abnormal thyroid function in HT patients.
PAKISTAN JOURNAL OF ZOOLOGY
(2023)
Article
Zoology
Muhammad Ikram Ullah
Summary: This study identifies a novel genetic mutation associated with a complex neurological disease in a Pakistani family. The results indicate significant genetic heterogeneity in the Pakistani population due to consanguinity. The use of next-generation sequencing technology has facilitated the identification of genes in complex disorders.
PAKISTAN JOURNAL OF ZOOLOGY
(2023)