Results 11 to 20 of about 81,851 (305)
Annals of Hepatology, 2019 Wilson's disease (WD), resulting from homozygote and compound heterozygote mutations in ATB7B, is an autosomal recessive disease. WD associated acute liver failure (ALF) is fatal, and a revised Wilson's disease prognostic index (RWPI) >11 is a reliable ...
Longgen Liu +5 more
doaj +2 more sources
, 2023 We analyzed findings in a same-gender couple discordant in their human immunodeficiency virus (HIV) status. The HIV+ partner was homozygous for CCR5 while his receptive HIV- partner was a CCR5Δ32 heterozygote with a C20S missense mutation in his CCR5 ...
Ghalib Alkhatib +13 more
core +1 more source
Heterozygote advantage and pleiotropy contribute to intraspecific color trait variability [PDF]
, 2022 The persistence of intrapopulation phenotypic variation typically requires some form of balancing selection since drift and directional selection eventually erode genetic variation. Heterozygote advantage remains a classic explanation for the maintenance
De Pasqual, Chiara +5 more
core +1 more source
Olfaction in Parkin heterozygotes and compound heterozygotes [PDF]
Neurology, 2011 While Parkinson disease (PD) is consistently associated with impaired olfaction, one study reported better olfaction among Parkin mutation carriers than noncarriers. Whether olfaction differs between Parkin mutation heterozygotes and carriers of 2 Parkin mutations (compound heterozygotes) is unknown.To assess the relationship between Parkin genotype ...
R N, Alcalay +33 more
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Keeping Track of the Genealogy of Heterozygotes Using Epigenetic Reference Codes and Breeding Tables
Frontiers in Behavioral Neuroscience, 2022 Studying neurobehavioral consequences of the hypofunctional dopamine transporter (DAT) across several generations entails the need to monitor allelic transmission to offspring, taking into account both maternal and paternal inheritance.
Anna Sara Liberati +3 more
doaj +1 more source
Curd Coconut: Its Mystery and Potentialities (Review Article)
CORD, 2013 Curd coconut (CC) is a rare abnormality in the meat of the coconut which is thicker than normal and is fluffy and soft like curd. Being more delicious than normal coconut, CC is favored by people who eat it as dessert.
Narong Chomchalow
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Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient
Frontiers in Genetics, 2023 Background: Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. Mutations in the WASHC5 gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8).
Shan-Yu Gao +8 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Idiopathic focal segmental glomerulosclerosis (FSGS) is a relatively frequent kidney disorder that manifest clinically as proteinuria and progressive loss of renal function. Genetic factors play a dominant role in the occurrence of FSGS.
Yu-Xing Liu +17 more
doaj +1 more source
HETEROZYGOTES FOR ATYPICAL CHOLINESTERASE
British Journal of Anaesthesia, 1982 Three hundred and thirty-two patients undergoing electroconvulsive therapy received thiopentone and suxamethonium. In 31 the duration of the apnoea was greater than an assumed upper limit of normal of 240 s. Eight of these patients proved, on biochemical grounds, to be heterozygotes for the atypical gene. The reason why the heterozygous state is rarely
H, Owen, A R, Hunter
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Brain and Behavior, 2023 Background Up to 80% of women with X‐linked adrenoleukodystrophy (X‐ALD) develop symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's objective was to compare symptomatic versus asymptomatic women with X‐ALD regarding their
Lisa Schäfer +3 more
doaj +1 more source