Results 31 to 40 of about 1,423,917 (266)
Association of ABCC8 and KCNJ11 gene variants with type 1 diabetes in south Indians
Egyptian Journal of Medical Human Genetics, 2021 Background Type 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel and regulates the secretion of ...
Shilpa Reddy +7 more
doaj +1 more source
Кардиоваскулярная терапия и профилактика, 2022 The formation of biobanks in the structure of scientific and treatment and diagnostic institutions with prospects for interregional integration is a fundamental link in monitoring and predicting diseases of various origins, creating and testing highly ...
R. S. Kalinin +16 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian +13 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan +1 more
wiley +1 more source
Egyptian Journal of Medical Human GeneticsBackground −1031 (T/C) and AA for − 308 (G/A) showing a higher risk for disease susceptibility (OR = 3.5 and 8.7, respectively) and severity (OR = 1.99 and 8.59, respectively). Elevated levels of all biochemical markers were significantly correlated with
M. L. N. Deepika +2 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar +7 more
wiley +1 more source
Genetics of Alzheimer's Disease [PDF]
Dementia and Neurocognitive Disorders, 2018 Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-HLA-DRB1 ...
openaire +2 more sources
Different DNA Sequencing Using DNA Graphs: A Study
Applied Sciences, 2022 Natural genetic material may shed light on gene expression mechanisms and aid in the detection of genetic disorders. Single Nucleotide Polymorphism (SNP), small insertions and deletions (indels), and major chromosomal anomalies are all chromosomal ...
Abdulaziz M. Alanazi +3 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction The use of herbal medical preparation (HMP) is rising among pediatric oncology patients, often to manage treatment‐related symptoms. Their effectiveness remains uncertain, and the risk of herb–drug interactions is underestimated.
Orianne Mahot +6 more
wiley +1 more source
The genetics of Ménière's disease.
The application of clinical genetics, 2015 Our understanding of the genetic basis of Ménière's disease (MD) is still limited. Although the familial clustering and the geographical and racial differences in incidence strongly suggest a certain role for genetic factors in the development of MD, no convincing evidence for an association with any gene exists, at present.
Giuseppe Chiarella +2 more
openaire +2 more sources