Results 11 to 20 of about 113,813 (285)
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
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 +7 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
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
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
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
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
Pesquisa Agropecuária Brasileira, 2009 The objective of this work was to distinguish the parental source of alleles in heterozygous progeny using semiquantitative polymerase chain reaction (PCR) in maize endosperm.
Francielle Alline Martins +4 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
Gene dynamics of toll-like receptor 4 through a population bottleneck in an insular population of water voles (Arvicola amphibius) [PDF]
, 2015 Acknowledgments We would like to thank all colleagues who have contributed to fieldwork and sampling during this study. We would especially like to thank Marius Wenzel and Sandra Telfer for collaboration with different aspects of the study, and Dave ...
Douglas, Alex +3 more
core +2 more sources