[HTML][HTML] Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
[HTML][HTML] Saliva as a potential non-invasive liquid biopsy for early and easy diagnosis/prognosis of head and neck cancer
Head and neck squamous cell carcinomas (HNSCCs) are the most devastating diseases in
India and southeast Asia. It is a preventable and curable disease if detected early. Tobacco …
India and southeast Asia. It is a preventable and curable disease if detected early. Tobacco …
[HTML][HTML] Forensic proteomics
Protein is a major component of all biological evidence, often the matrix that embeds other
biomolecules such as polynucleotides, lipids, carbohydrates, and small molecules. The …
biomolecules such as polynucleotides, lipids, carbohydrates, and small molecules. The …
[HTML][HTML] Cytochrome b5 reductases: Redox regulators of cell homeostasis
The cytochrome-b 5 reductase (CYB5R) family of flavoproteins is known to regulate
reduction-oxidation (redox) balance in cells. The five enzyme members are highly …
reduction-oxidation (redox) balance in cells. The five enzyme members are highly …
[HTML][HTML] Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications
C Strafella, V Caputo, A Termine, S Barati… - Genes, 2020 - mdpi.com
Angiotensin-converting enzyme 2 (ACE2) has been recognized as the entry receptor of the
novel severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2). Structural and …
novel severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2). Structural and …
Breast cancer and DDT: putative interactions, associated gene alterations, and molecular pathways
VP Jayaseelan, A Ramesh, P Arumugam - Environmental Science and …, 2021 - Springer
The global burden of cancer has recorded an ever-increasing trend in the developing world.
The GLOBOCAN, 2018 report has ranked breast cancer (BC) as the second (11.6%) most …
The GLOBOCAN, 2018 report has ranked breast cancer (BC) as the second (11.6%) most …
[HTML][HTML] Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives
Primary immunodeficiencies comprise a group of inborn errors of immunity that display
significant clinical and genetic heterogeneity. Next-generation sequencing techniques and …
significant clinical and genetic heterogeneity. Next-generation sequencing techniques and …
Assigning function to SNPs: considerations when interpreting genetic variation
Assigning function to single nucleotide polymorphisms (SNPs) to understand the
mechanisms that link genetic and phenotypic variation and disease is an area of intensive …
mechanisms that link genetic and phenotypic variation and disease is an area of intensive …
[HTML][HTML] Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database
KS Park - Molecular genetics and metabolism reports, 2021 - Elsevier
Background The genetic prevalence of Pompe disease was estimated based on the
proportion of individuals who have a causative genotype in a general population database …
proportion of individuals who have a causative genotype in a general population database …
[HTML][HTML] Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a common cause of infertility in women,
characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases …
characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases …