56 results match your criteria: "Advanced Centre for Human Genetics[Affiliation]"
BMC Med Genomics
November 2024
Advanced Centre for Human Genetics, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which inevitably results in a deficiency of the SMN protein. In present study, we investigated the potential role of telomere attrition in SMA patients.
View Article and Find Full Text PDFDiscov Oncol
April 2024
Department of Hematology, SKIMS, Srinagar, 190011, J&K, India.
Background: Fragile histidine triad (FHIT) has been documented to play a vital role in various cancers including acute lymphoblastic leukemia (ALL). Keeping in view the plausible role of FHIT gene, we aimed to examine DNA promoter hypermethylation and mRNA expression in ALL cases in Kashmir (North India).
Methods: A total of 66 cases of ALL were analyzed for FHIT mRNA expression and promoter methylation by qRT-PCR and Methylation Specific-PCR (MS-PCR) respectively.
Curr Pharm Biotechnol
March 2024
Department of Biochemistry & Biotechnology, Faculty of Science, Annamalai University, Annamalainagar, 608002, Tamil Nadu, India
Background: Deregulated DNA damage response (DDR) network is implicated in cancer progression and therapy resistance.
Objective: The present study was designed to investigate whether nimbolide, an anticancer neem limonoid, targets key components of the DDR signalling pathway in cellular and animal models of oral squamous cell carcinoma (OSCC).
Methods: OSCC cells (SCC-4 and SCC-9), 7,12-dimethylbenz[a]anthracene (DMBA)-induced hamster buccal pouch (HBP) carcinoma model, chemoresistant OSCC patient-derived xenograft (PDX) model established in athymic nude mice, and tissue sections from patients with oral premalignant/malignant disease were used for the study.
Cancer Metastasis Rev
March 2024
Department of Human Genetics-Precision Medicine in Diabetes, Obesity and Cancer Program, Sidra Medicine, Doha, Qatar.
Cancer is a complex disease displaying a variety of cell states and phenotypes. This diversity, known as cancer cell plasticity, confers cancer cells the ability to change in response to their environment, leading to increased tumor diversity and drug resistance. This review explores the intricate landscape of cancer cell plasticity, offering a deep dive into the cellular, molecular, and genetic mechanisms that underlie this phenomenon.
View Article and Find Full Text PDFBiomedicines
December 2023
Department of Community Medicine, Sher-i-Kashmir Institute of Medical Sciences, Srinagar 190006, India.
Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting in an additional chromosome. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. Positive correlation exists between maternal age, particularly in advanced cases, and the global annual incidence is over 200,000 cases.
View Article and Find Full Text PDFExp Oncol
October 2023
Department of Neurosurgery, Sher-I-Kashmir Institute of Medical Sciences, Srinagar 190011, J&K, India.
Background: Malignant gliomas are the most frequent and lethal brain tumors. Their molecular aspects remain intangible but current studies have pointed to certain genetic polymorphic loci that pose the risk. The polymorphic sequence variations of the epidermal growth factor receptor gene (EGFR) pathway play a vital role in the glioma risk, and the EGFR variants (216G>T and 191C>A) are identified to affect the risk for the development of different tumors including glioma.
View Article and Find Full Text PDFCancer Genet
November 2023
Department of Pathology, SKIMS, Srinagar, J & K, India.
Background: Either deletion or co-deletion of chromosomal arms 1p or 19q is a characteristic and early genetic event in oligodendroglial tumors that is associated with a better prognosis and enhanced response to therapy. Information of 1p/19q status is now regarded as the standard of care when managing oligodendroglial tumors for therapeutic options in anticipation of the increased survival and progression-free survival times associated with it. Keeping this in view, we first time attempted to establish the FISH based detection of 1p/19q deletion in glioma tissue samples to evaluate its role and involvement in the disease.
View Article and Find Full Text PDFGene
August 2023
Department of Urology, Sheri-Kashmir Institute of Medical Sciences, (SKIMS), Srinagar 190011, J&K, India. Electronic address:
Background: Urinary bladder urothelial carcinoma (UBUC) and upper tract urothelial carcinoma (UTUC) harbor analogous morphology with comparable cytogenetic changes as well as prognostic factors but their similar biological activities still remain controversial. SLITRK6 gene has been demonstrated to have distinct role in urothelial cancers with a distinction between UTUC and UBUC.
Method: The study included a total of 80 patients of urothelial carcinoma including 60 UBUC and 20 UTUC cases.
Saudi Pharm J
January 2023
Advanced Centre for Human Genetics, Sher I Kashmir Institute of Medical Sciences Soura, Srinagar 190011, Kashmir, India.
Cell Commun Signal
January 2023
Division of Animal Biotechnology, Sher-E-Kashmir University of Agricultural Sciences and Technology of Kashmir, FV.Sc and A.H, Shuhama, Jammu and Kashmir, India.
SCARB1 belongs to class B of Scavenger receptors (SRs) that are known to be involved in binding and endocytosis of various pathogens. SRs have emerging role in regulating innate immunity and host-pathogen interactions by acting in co-ordination with Toll-like receptors.Query Little is known about the function of SCARB1 in milk-derived mammary epithelial cells (MECs).
View Article and Find Full Text PDFRep Pract Oncol Radiother
October 2022
Department of Urology and Kidney Transplant, SKIMS, J & K, India.
Background: The polymorphic variations of human telomerase reverse transcriptase () gene play an important role in predisposition to carcinogenesis. The current study aimed to elucidate the genetic predisposition to bladder cancer in two important variants, rs2736098 and rs2736100 of gene.
Materials And Methods: Confirmed 130 patients of bladder cancer and 200 healthy controls were genotyped by PCR-RFLP to determine different variants of rs2736098 and rs2736100.
J Family Med Prim Care
August 2022
Department of Clinical Biochemistry, University of Kashmir, Jammu and Kashmir, India.
Background: Polycystic ovarian syndrome (PCOS) is a highly prevalent endocrine disorder among females of fertile age. It has been speculated to be associated with low-grade chronic inflammation like other inflammatory response-driven multifactorial illnesses such as diabetes mellitus (DM) and cancer. Monocyte chemoattractant protein-1 (MCP-1) and plasminogen activator inhibitor-1 (PAI-1) are biomarkers of inflammation and endothelial dysfunction, respectively.
View Article and Find Full Text PDFFront Immunol
August 2022
Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, JK, India.
We systematically reviewed and summarized studies focusing on Bharat Biotech's Whole Virion Inactivated Corona Virus Antigen BBV152 (Covaxin), which is India's indigenous response to fighting the SARS-CoV-2 pandemic. Studies were searched for data on the efficacy, immunogenicity, and safety profile of BBV152. All relevant studies published up to March 22, 2022, were screened from major databases, and 25 studies were eventually inducted into the systematic review.
View Article and Find Full Text PDFInt J Environ Res Public Health
August 2022
Advanced Centre for Human Genetics, Sheri-Kashmir Institute of Medical Sciences, Srinagar 190011, India.
(1) Background globe. The etiology of CHDs is complex and involves both genetic and non-genetic factors. Although, significant progress has been made in deciphering the genetic components involved in CHDs, recent reports have revealed that mutations in Nk2 homeobox5 (NKX2-5) and actin alpha cardiac muscle1 (ACTC1) genes play a key role in CHDs such as atrial and ventricular septum defects.
View Article and Find Full Text PDFCurr Fungal Infect Rep
August 2022
Department of Radiology, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir 190011 India.
Purpose Of Review: More than half a billion people have been infected and 6.2 million killed by the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) since the start of the pandemic in 2019. Systemic glucocorticoids are a double-edged sword, on the one hand, life-saving in treating COVID-19 complications while on the other hand, potentially leading to life-and-limb-threatening opportunistic fungal infections.
View Article and Find Full Text PDFFront Oncol
July 2022
Advanced Centre for Human Genetics, Sher-I- Kashmir Institute of Medical Sciences, Srinagar, India.
Genetic instabilities exacerbated by the dysfunction of telomeres can lead to the development of cancer. Nearly 90% of all human malignancies are linked with telomere dysregulation and overexpression of telomerase, an enzyme that catalyzes the synthesis of telomeric DNA repeats at the ends of chromosomes. The burden of gastric cancer continues to inflict a deterring impact on the global health scenario, accounting for over one million new cases in 2020.
View Article and Find Full Text PDFJ Clin Med
July 2022
Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar 190011, India.
Pregnancy is controlled by several types of genes and the regulation of their expression is tightly controlled by miRNAs. The present study was carried out to explore the association between miR-125a polymorphic sequence variation and its expression and recurrent pregnancy loss (RPL) compared to full-term healthy controls. A total of 150 women that had experienced two or more RPLs and 180 healthy controls (two or more full-term pregnancies) were recruited, along with 50 product of conception (POC) samples from the corresponding RPL patients, and evaluated for miR-125a SNPs by the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP), which was confirmed by high resolution melting (HRM)/DNA sequencing.
View Article and Find Full Text PDFPharmaceutics
June 2022
Department of Medical Biotechnology, College of Applied Medical Sciences, Qassim University, Buraidah 51452, Saudi Arabia.
(1) Background: Inflammation is one of the primary responses of the immune system and plays a key role in the pathophysiology of various diseases. Recent reports suggest that various phytochemicals exhibit promising anti-inflammatory and immunomodulation activities with relatively few undesirable effects, thus offering a viable option to deal with inflammation and associated diseases. The current study evaluates the anti-inflammatory and immunomodulatory effects of withaferin A (WA) in immune cells extracted from BALB/c mice.
View Article and Find Full Text PDFFront Genet
May 2022
Advanced Centre for Human Genetics, Sher-I- Kashmir Institute of Medical Sciences, Soura, India.
Bioinformatics is an amalgamation of biology, mathematics and computer science. It is a science which gathers the information from biology in terms of molecules and applies the informatic techniques to the gathered information for understanding and organizing the data in a useful manner. With the help of bioinformatics, the experimental data generated is stored in several databases available online like nucleotide database, protein databases, GENBANK and others.
View Article and Find Full Text PDFFront Pharmacol
March 2022
Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, India.
JAK/STAT signaling pathway is one of the important regulatory signaling cascades for the myriad of cellular processes initiated by various types of ligands such as growth factors, hormones, and cytokines. The physiological processes regulated by JAK/STAT signaling are immune regulation, cell proliferation, cell survival, apoptosis and hematopoiesis of myeloid and non-myeloid cells. Dysregulation of JAK/STAT signaling is reported in various immunological disorders, hematological and other solid malignancies through various oncogenic activation mutations in receptors, downstream mediators, and associated transcriptional factors such as STATs.
View Article and Find Full Text PDFFront Pharmacol
February 2022
Advanced Centre for Human Genetics, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India.
A ubiquitously expressed cytokine, transforming growth factor-beta (TGF-β) plays a significant role in various ongoing cellular mechanisms. The gain or loss-of-function of TGF-β and its downstream mediators could lead to a plethora of diseases includes tumorigenesis. Specifically, at the early onset of malignancy TGF-β act as tumour suppressor and plays a key role in clearing malignant cells by reducing the cellular proliferation and differentiation thus triggers the process of apoptosis.
View Article and Find Full Text PDFAnticancer Agents Med Chem
June 2022
Department of Biochemistry & Biotechnology, Faculty of Science, Annamalai University, Annamalainagar-608002, Tamil Nadu, India.
Background & Objective: The insulin/IGF-1R/PI3K/Akt signalling cascade is increasingly being linked to breast cancer development, with aldose reductase (AR) playing a key role in mediating the crosstalk between this pathway and angiogenesis. The current study was designed to investigate whether nimbolide, a neem limonoid, targets the oncogenic signaling network to prevent angiogenesis in breast cancer.
Methods: Breast cancer cells (MCF-7, MDA-MB-231), EAhy926 endothelial cells, MDA-MB-231 xenografted nude mice, and tumour tissues from breast cancer patients were used for the study.
Curr Urol
December 2021
Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, Jammu & Kashmir, India.
Background: The MNS16A variable number tandem repeat (VNTR) polymorphism of the human telomerase reverse transcriptase () gene acts as a regulator of promoter activity and has been shown to have a role in the predisposition toward various cancers. The current study aimed to investigate the association between MNS16A VNTR alleles and genetic predisposition to bladder cancer in the Kashmir region of northern India.
Materials And Methods: A total of 130 patients with bladder cancer and 170 age- and gender-matched healthy controls were included in this study.
Front Oncol
October 2021
Advanced Centre for Human Genetics, SKIMS, Srinagar, India.
Introduction: Glutathione S-transferase (GST) gene deletion or polymorphic sequence variations lead to decreased enzyme activity that influences susceptibility and response to chemotherapy in acute lymphoblastic leukemia (ALL). This case-control study investigated the association of GST gene polymorphisms with the etiology and therapeutic outcome of B-ALL among Kashmiri population.
Methods: A total of 300 individuals including 150 newly diagnosed B-ALL patients and an equal number of age and gender matched controls were genotyped for five GST gene polymorphisms by polymerase chain reaction-restriction fragment length polymorphism technique (PCR-RFLP) and multiplex PCR techniques.
Reprod Biomed Online
December 2021
Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), J&K-India.
Research Question: What is the association between VEGF gene sequence variants and its mRNA expression in recurrent pregnancy loss (RPL)? Vascular endothelial growth factor (VEGF) has a prominent role in pregnancy and affects pregnancy outcome. The association of VEGF gene 1154G>A, 634G>C and 583C>T polymorphic variations with cases of RPL and full-term fertile women as controls was investigated.
Design: Two hundred women with RPL and 240 women healthy controls were included.