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Your search keyword '"Fazal Rahim"' showing total 12 results
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12 results on '"Fazal Rahim"'

1. Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.

Author

Liu, Tao, Rahim, Fazal, Yang, Meng-Lei, Uddin, Meftah, Ye, Jing-Wei, Ali, Imtiaz, Raza, Yousaf, Mansoor, Abu, Shoaib, Muhammad, Hussain, Mujahid, Khan, Ihsan, Shah, Basit, Khan, Asad, Nisar, Ahmad, Ma, Hui, Xu, Bo, Shah, Wasim, and Shi, Qing-Hua

Abstract

Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella (MMAF). Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement. Mammalian sperm-associated antigen 17 (SPAG17) encodes a conserved axonemal protein of cilia and flagella, forming part of the C1a projection of the central apparatus, with functions related to ciliary/flagellar motility, skeletal growth, and male fertility. This study investigated two novel homozygous SPAG17 mutations (M1: NM_206996.2, c.829+1G>T, p.Asp212_Glu276del; and M2: c.2120del, p.Leu707*) identified in four infertile patients from two consanguineous Pakistani families. These patients displayed the MMAF phenotype confirmed by Papanicolaou staining and scanning electron microscopy assays of spermatozoa. Quantitative real-time polymerase chain reaction (PCR) of patients' spermatozoa also revealed a significant decrease in SPAG17 mRNA expression, and immunofluorescence staining showed the absence of SPAG17 protein signals along the flagella. However, no apparent ciliary-related symptoms or skeletal malformations were observed in the chest X-rays of any of the patients. Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls. Immunofluorescence staining and Western blot analyses of spermatogenesis-associated protein 17 (SPATA17), a component of the C1a projection, and sperm-associated antigen 6 (SPAG6), a marker of the spring layer, revealed disrupted expression of both proteins in the patients' spermatozoa. Altogether, these findings demonstrated that SPAG17 maintains the integrity of spermatozoal flagellar axoneme, expanding the phenotypic spectrum of SPAG17 mutations in humans. [ABSTRACT FROM AUTHOR]

Published
2025
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2. A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families.

Author

Hussain, Ansar, Zhang, Huan, Zubair, Muhammad, Shah, Wasim, Khan, Khalid, Ali, Imtiaz, Raza, Yousaf, Zeb, Aurang, Abbas, Tanveer, Ahmed, Nisar, Rahim, Fazal, Mustafa, Ghulam, Uddin, Meftah, Ullah, Nadeem, Abbas, Musavir, Khan, Muzammil Ahmad, Ma, Hui, Yang, Bo, and Shi, Qing-Hua

Abstract

Multiple morphological abnormalities of the flagella (MMAF) represent a severe form of sperm defects leading to asthenozoospermia and male infertility. In this study, we identified a novel homozygous splicing mutation (c.871-4 ACA>A) in the adenylate kinase 7 (AK7) gene by whole-exome sequencing in infertile individuals. Spermatozoa from affected individuals exhibited typical MMAF characteristics, including coiled, bent, short, absent, and irregular flagella. Transmission electron microscopy analysis showed disorganized axonemal structure and abnormal mitochondrial sheets in sperm flagella. Immunofluorescence staining confirmed the absence of AK7 protein from the patients' spermatozoa, validating the pathogenic nature of the mutation. This study provides direct evidence linking the AK7 gene to MMAF-associated asthenozoospermia in humans, expanding the mutational spectrum of AK7 and enhancing our understanding of the genetic basis of male infertility. [ABSTRACT FROM AUTHOR]

Published
2025
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5. Hazara University Reports Findings in Alzheimer Disease (Synthesis, Biological Evaluation, Molecular Docking and Dynamic Simulation of Novel Benzofuran Derivatives As Potential Agents Against Alzheimer's Disease).

Subjects
CENTRAL nervous system diseases, ALZHEIMER'S disease, MOLECULAR structure, BINDING sites, COENZYMES, ACETYLCHOLINESTERASE
Abstract

A recent study conducted at Hazara University in Mansehra, Pakistan, focused on synthesizing novel benzofuran derivatives as potential agents against Alzheimer's Disease. The derivatives showed inhibitory activities against acetylcholinesterase and butyrylcholinesterase enzymes, with some analogues displaying better inhibitory activity than the standard drug Donepezil. Molecular docking and simulation studies were used to confirm the binding interaction between the derivatives and enzyme active sites. This research was supported by King Abdulaziz University and has been peer-reviewed. [Extracted from the article]

Published
2025

6. Researchers from Department of Chemistry Report New Studies and Findings in the Area of Cancer (A Versatile Inhibitory Approach and Molecular Mechanism On Cancer Cells and Cholinesterase Enzymes: Synthesis, Dft, Admet and Molecular Docking of...).

Subjects
MOLECULAR structure, SCHIFF base derivatives, SULFUR compounds, COENZYMES, NEWSPAPER editors
Abstract

Researchers from the Department of Chemistry in Abbottabad, Pakistan, have published a study on potential inhibitors for cancer and Alzheimer's disease. The study highlights the effectiveness of thiadiazole/oxadiazole based Schiff base derivatives, with compound 1 showing promising inhibition against liver, breast, and lung cancer cells. The research also identifies compound 9 as a potent anti-Alzheimer agent. In vitro biological activity was further analyzed through molecular docking, DFT, and ADMET studies to understand the compounds' binding interactions and pharmacokinetic profiles. The study was supported by the University Higher Education Fund at King Khalid University and has been peer-reviewed. [Extracted from the article]

Published
2025

7. Findings from Department of Chemistry Update Understanding of Diabetes Research (Insights Into the Role of Potent Thiadiazole Based Schiff Base Derivatives In Targeting Type-ii Diabetes: a Combine In-vitro and In-silico Approaches).

Subjects
GLYCOSIDASES, MOLECULAR structure, SULFUR compounds, ALPHA-glucosidases, COENZYMES
Abstract

Researchers in Abbottabad, Pakistan, have developed a novel series of thiadiazole-based Schiff base analogues to target enzymes involved in hyperglycemia, such as alpha-amylase and alpha-glucosidase. These analogues showed promising inhibitory activities compared to a known drug, acarbose. Compound (20) with a tri-fluoromethyl group demonstrated the most effective inhibitory activity. The study also included molecular docking and ADME analysis to explore drug likeness and toxicity. For more information, readers can contact the Department of Chemistry at Abbottabad University of Science and Technology in Pakistan. [Extracted from the article]

Published
2025

8. First Affiliated Hospital of University of Science and Technology China (USTC) Researcher Updates Understanding of Male Infertility (Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of...).

Subjects
MEDICAL sciences, MALE reproductive health, MALE infertility, PHYSICAL sciences, WESTERN immunoblotting
Abstract

Researchers at the First Affiliated Hospital of University of Science and Technology China (USTC) have identified two novel homozygous SPAG17 mutations in infertile patients from consanguineous Pakistani families. These mutations were associated with multiple morphological abnormalities of spermatozoal flagella, leading to male infertility. The study found that SPAG17 plays a crucial role in maintaining the integrity of spermatozoal flagellar axoneme, expanding the understanding of SPAG17 mutations in humans. The research highlights the importance of genetic factors in male infertility and provides insights into potential causes of impaired sperm motility. [Extracted from the article]

Published
2025

9. New Findings from Hazara University Update Understanding of Life Science (Insight Into in Vitro Thymidine Phosphorylase and in Silico Molecular Docking Studies: Identification of Hybrid Thiazole Bearing Schiff Base D

Subjects
Schiff bases -- Research, Enzymes -- Research, Physical fitness -- Research, Health
Abstract

2025 MAR 8 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Fresh data on Life Science are presented in a new report. According [...]

Published
2025

10. Investigators at Imam Abdulrahman Bin Faisal University Discuss Findings in Life Science (Identification of New Structure of Indol-3-acetyl-arylsulfonohydrazide As Potent A-glucosidase and A-amylase Inhibitors and Molecular Docking)

Subjects
Amylases -- Reports -- Research, Physical fitness -- Research -- Reports, Health
Abstract

2025 MAR 8 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Research findings on Life Science are discussed in a new report. According [...]

Published
2025

11. Findings from Department of Chemistry Update Understanding of Diabetes Research (Insights Into the Role of Potent Thiadiazole Based Schiff Base Derivatives In Targeting Type-ii Diabetes: a Combine In-vitro and In-silico Approaches)

Subjects
Research, Physical fitness -- Research, Schiff bases -- Research, Amylases -- Research
Abstract

2025 FEB 15 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Investigators publish new report on Diabetes Research. According to news reporting originating [...]

Published
2025

12. First Affiliated Hospital of University of Science and Technology China (USTC) Researcher Updates Understanding of Male Infertility (Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of ...)

Subjects
Reports, Physical fitness -- Reports, Male infertility -- Reports, Infertility, Male -- Reports
Abstract

2025 JAN 11 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Research findings on male infertility are discussed in a new report. According [...]

Published
2025

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