Results 61 to 70 of about 2,431,050 (332)

Development of an HPV Genotype Detection Platform Based on Aggregation-Induced Emission (AIE) and Flow-Through Hybridization Technologies

Molecules, 2022
Genetic mutations can cause life-threatening diseases such as cancers and sickle cell anemia. Gene detection is thus of importance for disease-risk prediction or early diagnosis and treatment.
Chun-Ho (Charlie) Ma, Liejun Li, Shuheng Cai, Pei Lin, Wing-Ki (Kristy) Lam, Tsz-Him (Ronald) Lee, Tsz-Kin (Ryan) Kwok, Longxu Xie, Tit-Sang (Tom) Kun, Ben-Zhong Tang   +9 more
doaj   +1 more source

FADS Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases [PDF]

, 2009
Long-chain polyunsaturated fatty acids (LC-PUFAs) play an important role in several physiological processes and their concentration in phospholipids has been associated with several complex diseases, such as atopic disease.
Heinrich, Joachim, Illig, Thomas, Koletzko, Berthold, Lattka, Eva   +3 more
core   +1 more source

RT‐PCR–Based Detection of Bone Marrow Involvement in Ewing Sarcoma: Diagnostic Validity and Prognostic Relevance

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background In Ewing sarcoma (EwS), metastases, including those to bone marrow (BM), are the main factors influencing prognosis. Although reverse transcription polymerase chain reaction (RT‐PCR) offers greater sensitivity, the current EWING protocol defines BM metastases solely using light microscopic detection.
Thanh Pham, Andreas Ranft, Victor Rechl, Susanne Jabar, Wolfgang Hartmann, Kim Falkenberg, Heribert Jürgens, Norbert Graf, Torsten Keßler, Markus Metzler, Thomas Klingebiel, Thorsten Simon, Martin Benesch, Uta Dirksen   +13 more
wiley   +1 more source

A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report

Journal of Biochemical and Clinical Genetics
Background: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to &
Aslı Guner Ozturk Demir, Akif Ayaz, Muhsin Elmas   +2 more
doaj   +1 more source

Graphical chain models for the analysis of complex genetic diseases: an application to hypertension [PDF]

, 2002
A crucial task in modern genetic medicine is the understanding of complex genetic diseases. The main complicating features are that a combination of genetic and environmental risk factors is involved, and the phenotype of interest may be complex ...
Di Serio, C., Vicard, P.
core   +1 more source

Oncogenic NRAS Mutation in Incipient Sarcomatous Transformation of Cystic Nephroma From a Patient With DICER1‐Related Tumor Predisposition Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Anaplastic sarcoma of the kidney (ASK) is a DICER1‐associated malignant tumor presumed to arise in a benign precursor, pediatric cystic nephroma (PCN). However, the initial oncogenic alteration(s) associated with malignant transformation are unknown.
Nahir Cortes‐Santiago, Sarah B. Whittle, Sarah Scollon, Sharon E. Plon, Sanjeev Vasudevan, Bryony J. Lucas, Angshumoy Roy   +6 more
wiley   +1 more source

Immuno-metabolic stress responses control longevity from mitochondrial translation inhibition in C. elegans

Nature Communications
Perturbing mitochondrial translation represents a conserved longevity intervention, with proteostasis processes proposed to mediate the resulting lifespan extension.
Iman Man Hu, Marte Molenaars, Yorrick R. J. Jaspers, Bauke V. Schomakers, Michel van Weeghel, Amber Bakker, Melanie Modder, Joseph P. Dewulf, Guido T. Bommer, Arwen W. Gao, Georges E. Janssens, Riekelt H. Houtkooper   +11 more
doaj   +1 more source

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management

Diagnostics, 2022
Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation ...
Chaolan Pan, Anqi Zhao, Ming Li
doaj   +1 more source

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera, Trotti, Davide, Wen, Xinmei, Westergard, Thomas   +3 more
core   +2 more sources

Genetics of Prion Disease

Current Opinion in Genetics & Development, 2011
Prion diseases or transmissible spongiform encephalopathies (TSEs) are neurodegenerative disorders of humans and animals for which there are no effective treatments or cure. They include Creutzfeldt-Jakob disease (CJD) in humans and sheep scrapie, bovine spongiform encephalopathy (BSE) and chronic wasting disease (CWD) in cervids.
Lloyd, Sarah E, Mead, Simon, Collinge, John   +2 more
openaire   +3 more sources