Results 51 to 60 of about 8,590 (232)
Frontiers in Genetics, 2020 IntroductionPathogenic variants in different genes have been described as involved in the development of familial focal segmental glomerulosclerosis (FSGS).
Michelle T. P. Riguetti +6 more
doaj +1 more source
Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area [PDF]
, 2018 Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and
Andrés, N. +2 more
core +2 more sources
A Point Mutation V419L in the Sodium Channel Gene from Natural Populations of Aedes aegypti Is Involved in Resistance to λ-Cyhalothrin in Colombia [PDF]
, 2018 Resistance to pyrethroids in mosquitoes is mainly caused by target site insensitivity known as knockdown resistance (kdr). In this work, we examined the point mutations present in portions of domains I, II, III, and IV of the sodium channel gene in Aedes
Granada, Yurany +3 more
core +3 more sources
Journal of Pediatric Genetics, 2019 Complete interferon-γ receptor 1 deficiency is a monogenic primary immunodeficiency caused by IFNGR1 germline defects, with autosomal dominant or recessive inheritance, which results in invasive mycobacterial diseases with varying degrees of severity ...
G. Bossi +10 more
semanticscholar +1 more source
Frequency of KLK3 gene deletions in the general population [PDF]
, 2016 Background One of the kallikrein genes ( KLK3) encodes prostate-specific antigen, a key biomarker for prostate cancer. A number of factors, both genetic and non-genetic, determine variation of serum prostate-specific antigen concentrations in the ...
Alghamdi, Osama +7 more
core +2 more sources
Genetics and Molecular Biology, 2017 Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events.
Siraprapa Tongkobpetch +5 more
doaj +1 more source
The power of many: when genetics met yeasts and high‐throughput
Biological Reviews, EarlyView.ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley +1 more source
Heteroskedasticity for weaning weight of Charolais-Zebu crossbred calves
Revista Brasileira de Zootecnia, 2012 The objective of the present study was to analyze models with genetic and/or residual heteroskedasticity for genetic evaluation of the weaning weight of Charolais-Zebu crossbred calves. Weaning weight data from 56,965 crossbred calves were analyzed using
Fábio Luiz Buranelo Toral +4 more
doaj +1 more source
HETEROZYGOSIS AND THE SURVIVAL OF YOUNG MICE IN TWO TEMPERATURES [PDF]
Quarterly Journal of Experimental Physiology and Cognate Medical Sciences, 1964 Inbred mice of strains A, A2G, C57BL and GFF, bred in a room kept at 21° C., were crossed to give all possible F1 types; an outbred stock was also derived from all four inbred strains. Similar matings were made among mice transferred, at the time of mating, to a room kept at ‐3° C.
openaire +2 more sources
Insect Science, EarlyView.A multilocus sequence typing approach is proposed to explore Halymorpha halys genetic diversity, taking into consideration both insect nuclear markers and markers from the gut symbiont “Candidatus Pantoa carbekii.” Increased information was revealed regarding the number of distinct holobiont haplotypes in native and invasive populations of the pest ...
Matteo Dho +6 more
wiley +1 more source