Results 51 to 60 of about 1,941 (169)
Hematology, Transfusion and Cell Therapy, 2023 Objective: Congenital Factor X (FX) deficiency is an autosomal recessive disorder with variable clinical severity associated with heterozygosis or homozygosis inheritance.
Hatice Mine Çakmak
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Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]
, 2015 Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
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Case Reports in Genetics, 2018 Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and ...
Nyamkhishig Sambuughin +7 more
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Systematic review and meta-analysis of genetic risk factors for neuropathic pain [PDF]
, 2018 Neuropathic pain (NP) is an increasingly common chronic pain state and a major health burden, affecting approximately 7-10% of the general population. Emerging evidence suggests that genetic factors could partially explain individual susceptibility to NP
Hébert, Harry L. +4 more
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PLoS ONE, 2020 Resolving the genetic architecture of painful neuropathy will lead to better disease management strategies. We aimed to develop a reliable method to re-sequence multiple genes in a large cohort of painful neuropathy patients at low cost.
Rowida Almomani +20 more
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Deep sequencing as a probe of normal stem cell fate and preneoplasia in human epidermis. [PDF]
, 2015 Using deep sequencing technology, methods based on the sporadic acquisition of somatic DNA mutations in human tissues have been used to trace the clonal evolution of progenitor cells in diseased states.
Simons, Benjamin D
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Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
Molecular Genetics & Genomic Medicine, 2020 Background Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole‐exome sequencing (WES)
Mandy H. Y. Tsang +14 more
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Pharmacogenomics of neuropathic pain
Journal of Neuroanaesthesiology and Critical Care, 2017 Variation in pain sensitivity and analgesic drug response is well recognized among individuals. Pharmacogenomics hypothesis dictates that a patient’s response to a drug or development of adverse drug effects may depend on variation in genetic profile, in
Vandana Sharma
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Birth delivery method affects expression of immune genes in lung and jejunum tissue of neonatal beef calves [PDF]
, 2017 peer-reviewedBackground Caesarean section is a routine veterinary obstetrical procedure employed to alleviate dystocia in cattle. However, CS, particularly before the onset of labour, is known to negatively affect neonatal respiration ...
Beltman, Marijke +6 more
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Genomics of lithium action and response [PDF]
, 2017 Lithium is the most successful mood stabiliser treatment for bipolar disorder. However, unlike conventional drugs that are designed to interact with a specific molecular target, the actions of lithium are distributed across many biological processes and ...
Pickard, Benjamin S.
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