Search results for "Phenotype"

Copper homeostasis influences the circadian clock in Arabidopsis.

2010

Almost every aspect of plant physiology is influenced by diurnal and seasonal environmental cycles which suggests that biochemical oscillations must be a pervasive phenomenon in the underlying molecular organization. The circadian clock is entrained by light and temperature cycles, and controls a wide variety of endogenous processes that enable plants to anticipate the daily periodicity of environmental conditions. Several previous reports suggest a connection between copper (Cu) homeostasis and the circadian clock in different organisms other than plants. However, the nature of the Cu homeostasis influence on chronobiology remains elusive. Cytosolic Cu content could oscillate since Cu regu…

MicroRNAs and cellular phenotypy.

2010

This Essay explores the notion that specialized cells have unique vulnerabilities to environmental contingencies that microRNAs help to counteract. Given the ease with which new microRNAs evolve, they may serve as ideal facilitators for the emergence of new cell types.

Amplified fragment length polymorphism (AFLP) and biochemical typing of Photobacterium damselae subsp. damselae.

2002

Aims: The aim of the present study was to characterize subspecifically Photobacterium damselae subsp. damselae strains isolated from cultured Sparus aurata and Dicentrarchus labrax by means of phenotypic and molecular typing techniques (amplified fragment length polymorphism, AFLP). Methods and Results: Seventy-one strains of P. damselae subsp. damselae were isolated from 38 cultured fishes at different fish farms located on the Mediterranean coast near Valencia, Spain. Most fish studied were asymptomatic and some were recovered during infectious outbreaks. Phenotypic characterization revealed a considerable degree of variability within the subspecies, including some characters, such as pro…

DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling

2021

Introduction: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated to a lupus phenotype. It is unclear whether interferon signaling is sustained in DNASE1L3 deficiency in humans. Objectives: Here, we report on four patients with pathogenic variations in DNASE1L3, including 2 previously undescribed causal variants, and expand the phenotype from SLE to vasculitis with gut involvement. To explore whether or not the interferon cascade was strongly and sustainably induced, Interferon stimulated genes (ISGs) expression was assessed for each patient. …

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

2021

AbstractPurposePathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations.MethodsThrough an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3 and we reviewed previously published cases. All missense variants were mapped onto the 3D structure of the GABRB3 subunit and clinical phenotypes associated with the dif…

Investigations on the genetics and population genetics of the ?2 polymorphism

1970

The results of studies on 49 families with 107 children and various populations of Caucasoid, Negroid and Mongoloid origin concerning the genetics and population genetics of the β2-glycoprotein I polymorphism are reported. In general the genetical model proposed by Cleve (1968) is confirmed: two autosomal alleles BgN and BgD controlling the phenotypes Bg N-N, Bg N-D and Bg D-D. However, divergences from this model were found in two families. They indicate the assumption of non-genetic factors influencing the phenotype expression rather than more complicated genetical control mechanisms. Within Caucasoid populations phenotype and gene frequencies show almost a homogeneous distribution. This …

Genetic location and biochemical characterization of eye-colour mutants from natural populations of Drosophila melanogaster

1990

From six captures of Drosophila melanogaster carried out in three different habitats (cellar, vineyard, and pinewood) in two different seasons of the year (spring and autumn), 60 eye-colour mutations were isolated, which were reduced to 29 loci by means of allelism tests within and between populations. Forty-five of these mutations were analyzed genetically and biochemically; of these 33 turned out to be previously described mutants and mapped to a total of 17 loci. Twelve new mutants were discovered and they mapped to 12 new loci, distributed on chromosomes X, II, and III. The eye-colour mutants show large effects on the red and brown pigments. The high variability of the eye-colour loci …

Reciprocal translocation t(1;18)(p32;q21) in a patient with some phenotypical anomalies

1987

The authors report on a case of 1;18 translocation and request contact with any colleagues who have observed similar cases.

PNPLA3 and HSD17B13 gene variants exert opposite effects on fatty liver phenotypes: results from the FLAG cohort

2020

Genetic Heterogeneity and Phenotype Variation of Schizophrenia

1995

It is well proven that the manifestation of schizophrenia is under genetic control (Kendler and Diehl 1993). It is however less clear: 1. How relevant environmental factors are, and how they operate and interact with genetic factors. 2. If the genetic susceptibility is identical across the total population of schizophrenics (or at least across all subjects with familial schizophrenia), or if the specific genetic components vary across families. 3. What is transmitted in families of schizophrenics and how co-familial traits are related to genetic and genetic risk factors; are only disorders and symptoms that belong to the schizophrenic sepctrum transmitted or are neurophysiological, neuropsy…