Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.29271/jcpsp.2020.05.553 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management.
Mol Biol Rep
December 2024
Translational Genomics Laboratory, COMSATS University Islamabad, Taramri Chock, Park Road, Islamabad, 45550, Pakistan.
Background: Methylmalonic acidemia (MMA), type mut (0) is a rare type of genetic inborn error of metabolism (IEM) that is caused by aberrant malonyl-CoA mutase activity. Diagnosing IEM can be challenging due to its inherited onset and varying degrees of severity.
Methods And Results: In the present study, a consanguineous Pakistani family suspected of IEM was genetically analyzed using whole exome sequencing.
Laparoscopic management of variant ductal and vascular anatomy in children with choledochal cysts.
J Minim Access Surg
November 2024
Department of Pediatric Surgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Introduction: Variations in biliary ductal and hepatic vascular anatomy increase the complexity of surgery for choledochal cysts (CDC). The laparoscopic approach for the management of paediatric CDCs with variant anatomy is underreported. This study aimed to describe anatomical variations, operative techniques and early outcomes of laparoscopic hepaticojejunostomy (HJ) in children with CDCs and variant anatomy.
View Article and Find Full Text PDFIn vitro evaluation of promiscuity and toxicity of a small molecule targeting wild and T164I β2-adrenergic receptors.
Bioorg Chem
December 2024
Bioinformatics Research Laboratory, LeGene Biosciences Pvt Ltd, 91-A, Sector A, Mahalakshmi Nagar, Indore 452010, Madhya Pradesh, India; In silico Research Laboratory, Eminent Biosciences, 91-A, Sector A, Mahalakshmi Nagar, Indore 452010, Madhya Pradesh, India. Electronic address:
Inhaled β2 agonists form the first-line treatment for bronchial asthma due to their superior bronchodilator effects. In our previous studies, we have identified a significant association of Thr164Ile (T164I) polymorphism (C491T, rs1800088) in the β2 adrenergic receptor (β2AR) with refractoriness to β2 agonists like salbutamol. Utilizing molecular modeling approaches, we have demonstrated the suboptimal binding of salbutamol as a plausible rationale behind the refractoriness observed in asthmatics.
View Article and Find Full Text PDFExcitatory amino acids as therapeutic agents: Reversing neurodegenerative trajectory by tackling excitotoxicity.
Neurol Sci
November 2024
Department of Pharmacy, Guru Ghasidas Vishwavidyalaya (A Central University), Bilaspur Chhattisgarh, 495009, India.
Neurodegenerative diseases pose significant challenges to healthcare systems globally due to their complex etiology and relentless progression, often rendering conventional treatments ineffective. Recent advances have spotlighted excitatory amino acids, particularly D-amino acids, once considered as products of metabolism of the microbiota or deriving from food intake. This review explores the role of D-amino acids in mitigating excitotoxicity-a process characterized by excessive calcium influx through aberrant N-methyl-D-aspartate receptor (NMDAR) activation, which is implicated in the pathogenesis of diseases like Alzheimer's disease.
View Article and Find Full Text PDFIncrease in blood derived mitochondrial DNA copy number in strabismus patients.
J AAPOS
December 2024
Pakistan Academy of Sciences, Islamabad, Federal Capital, Pakistan; Science and Technology Sector, ICESCO, Rabat, Kingdom of Morocco.
Background: Abnormalities in mitochondrial energy homeostasis can lead to various disorders, including ocular motility aberrations. Previous studies have suggested the involvement of mitochondrial aberrations in strabismus etiology. We compared the blood-derived mitochondrial DNA (mtDNA) copy number from comitant strabismus patients with that from age-matched controls, and also compared expression of mitochondrial biogenesis genes in a separate set of extraocular muscle samples from strabismic and control subjects.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!