Results 11 to 20 of about 114,605 (302)
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
openaire +2 more sources
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
doaj +1 more source
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
Sex-related differences in chromatic sensitivity [PDF]
, 2008 Generally women are believed to be more discriminating than men in the use of colour names and this is often taken to imply superior colour vision. However, if both X-chromosome linked colour deficient males (~8%) and females (
J.A. HARLOW +7 more
core +1 more source
Direct Evidence on the Contribution of a Missense Mutation in GDF9 to Variation in Ovulation Rate of Finnsheep [PDF]
, 2014 peer-reviewedThe Finnish Landrace (Finnsheep) is a well known high-prolificacy sheep breed and has been used in many countries as a source of genetic material to increase fecundity of local breeds.
Hanrahan, James P, Mullen, Michael P.
core +5 more sources
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
Reliability assessment of null allele detection: inconsistencies between and within different methods [PDF]
, 2014 Microsatellite loci are widely used in population genetic studies, but the presence of null alleles may lead to biased results. Here we assessed five methods that indirectly detect null alleles, and found large inconsistencies among them.
Avise +31 more
core +1 more source
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
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
Evolutionary ecology of opsin gene sequence, expression and repertoire. [PDF]
, 2017 Linking molecular evolution to biological function is a long-standing challenge in evolutionary biology. Some of the best examples of this involve opsins, the genes that encode the molecular basis of light reception.
Owens, Gregory L, Rennison, Diana J
core +1 more source