Results 111 to 120 of about 6,319,608 (297)
Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case
Clinical Case ReportsWe report the case of a 13‐month‐old female with multiple congenital anomalies including microcephaly, generalized hypotonia, sensorineural hearing loss, visual impairment, alopecia, and hypoplastic kidneys with chronic kidney disease, and dysmorphic ...
Giavanna Verdi +6 more
doaj +1 more source
Medical genetics in clinical practice.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974 Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an analysis and discussion of the problems presented by these individuals.S. Afr. Med.
Beighton, P.H., Nelson, Matilda M.
openaire +3 more sources
FEBS Letters, EarlyView.Obesity raises blood levels of PAI‐1, a protein linked to metabolic dysfunction‐associated steatotic liver disease in people with obesity. In female mice fed a high‐fat diet, partially lowering PAI‐1 led to smaller subcutaneous fat cells and lower liver cholesterol, without changing body weight or insulin sensitivity.
Claudia E. Ramirez Bustamante +10 more
wiley +1 more source
iScienceSummary: Fetal hemoglobin (Hb F) is the strongest endogenous modifier of sickle cell disease (SCD) severity, but its genetic regulation varies across populations.
Nandini Shende +6 more
doaj +1 more source
Ligand‐dependent transcriptional heterogeneity in cell cycle gene expression delays G1/S entry
FEBS Letters, EarlyView.EGF and HRG induce distinct G1/S progression programs in ErbB2‐amplified BT474 breast cancer cells. Despite activating the potent ErbB2–ErbB3 heterodimer, HRG does not accelerate cell‐cycle entry. Instead, EGF promotes earlier restriction‐point passage via ERK–FOS signaling, whereas HRG activates the AKT–MYC axis, driving transcriptional heterogeneity ...
Ririn Rahmala Febri +5 more
wiley +1 more source
, 2006 Population genetics attempts to measure the influence of the causes of evolution, viz., mutation, migration, natural selection, and random genetic drift, by understanding the way those causes change the genetics of populations. But how does it accomplish
Millstein, Roberta L. +1 more
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Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery. [PDF]
Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED).
Elms, M +15 more
core +1 more source
Translophagy—A potential link between autophagy impairment and translational errors
FEBS Letters, EarlyView.Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk +11 more
wiley +1 more source
Leucine‐rich glioma inactivated 1 (LGI1) is a ganglioside‐binding protein
FEBS Letters, EarlyView.Neuronal hyperexcitability associated with a decrease/absence of the extracellular protein LGI1 has been suggested to be primarily due to the downregulation of Kv1 channel expression. The molecular mechanisms underlying this decrease have not yet been elucidated.
Kévin Debreux +7 more
wiley +1 more source
, 2010 This OER consists of an instructional sheet produced by GENIE CETL in the Department of Genetics. By the end of this material you would have learnt about: The way in which genes control the growth and development of an organism throughout its life ...
GENIE CETL
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