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https://www.readbyqxmd.com/read/29731694/the-role-of-some-adam-proteins-and-activation-of-the-insulin-growth-factor-related-pathway-in-colorectal-cancer
#1
REVIEW
Katarzyna Walkiewicz, Ewa Nowakowska-Zajdel, Paweł Kozieł, Małgorzata Muc-Wierzgoń
Colorectal cancer (CRC) is the third most common malignant neoplasm worldwide. In Poland, colorectal cancer ranks second in tumor incidence regardless of sex; moreover, there has been a steady increase in the incidence of CRC. CRC results from complex interactions between inherited susceptibility, clinical conditions and environmental/lifestyle-related risk factors such as physical inactivity, smoking, alcohol consumption, high-fat/low-fiber diet, and obesity/overweight. The activation of pathways associated with insulin resistance and insulin-like growth factors (IGF) appears to be the epidemiological link between the metabolic syndrome and the development of CRC, which is of particular importance...
2018: Central-European Journal of Immunology
https://www.readbyqxmd.com/read/29656128/agrobacterium-rhizogenes-mediated-transformation-of-a-dioecious-plant-model-silene-latifolia
#2
Vojtech Hudzieczek, Radim Cegan, Tomas Cermak, Nela Bacovska, Zuzana Machalkova, Karel Dolezal, Lucie Plihalova, Daniel Voytas, Roman Hobza, Boris Vyskot
Silene latifolia serves as a model species to study dioecy, the evolution of sex chromosomes, dosage compensation and sex-determination systems in plants. Currently, no protocol for genetic transformation is available for this species, mainly because S. latifolia is considered recalcitrant to in vitro regeneration and infection with Agrobacterium tumefaciens. Using cytokinins and their synthetic derivatives, we markedly improved the efficiency of regeneration. Several agrobacterial strains were tested for their ability to deliver DNA into S...
April 12, 2018: New Biotechnology
https://www.readbyqxmd.com/read/29609661/all-male-hybrids-of-a-tetrapod-pelophylax-esculentus-share-its-origin-and-genetics-of-maintenance
#3
Marie Doležálková-Kaštánková, Nicolas B M Pruvost, Jörg Plötner, Heinz-Ulrich Reyer, Karel Janko, Lukáš Choleva
BACKGROUND: Sexual parasites offer unique insights into the reproduction of unisexual and sexual populations. Because unisexuality is almost exclusively linked to the female sex, most studies addressed host-parasite dynamics in populations where sperm-dependent females dominate. Pelophylax water frogs from Central Europe include hybrids of both sexes, collectively named P. esculentus. They live syntopically with their parental species P. lessonae and/or P. ridibundus. Some hybrid lineages consist of all males providing a chance to understand the origin and perpetuation of a host-parasite (egg-dependent) system compared to sperm-dependent parthenogenesis...
April 2, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29556235/exome-sequencing-diagnoses-x-linked-moesin-associated-immunodeficiency-in-a-primary-immunodeficiency-case
#4
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29482223/efficacy-of-exome-targeted-capture-sequencing-to-detect-mutations-in-known-cerebellar-ataxia-genes
#5
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr
Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. Objectives: To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence...
February 26, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29473197/heritability-of-the-airway-structure-and-head-posture-using-twin-study
#6
J-H Kang, J Sung, Y-M Song, Y-H Kim
Inherited traits of obstructive sleep apnoea (OSA) may have link to the heritability of the airway anatomy. The aim of this study was to investigate heritability of the airway anatomy by comparing skeletal and soft tissue features of Korean monozygotic twins (MZ) and dizygotic twins (DZ). In total, 72 participants (mean age, 41.5 ± 5.9 years; 40 males, 32 females) including 48 MZ (24 pairs) and 24 DZ (12 pairs) with same sex were participated. The craniofacial, craniovertebral, hyoideal and pharyngeal parameters were measured using lateral cephalograms...
May 2018: Journal of Oral Rehabilitation
https://www.readbyqxmd.com/read/29456765/peripheral-blood-epi-signature-of-claes-jensen-syndrome-enables-sensitive-and-specific-identification-of-patients-and-healthy-carriers-with-pathogenic-mutations-in-kdm5c
#7
Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I Rodenhiser, Charles Schwartz, Bekim Sadikovic
Background: Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with hemizygous mutations in KDM5C present with intellectual disability and facial dysmorphism, while most heterozygous female carriers are asymptomatic. We hypothesized that loss of Kdm5c function may influence other components of the epigenomic machinery including DNA methylation in affected patients...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29430636/sex-differences-in-life-span-females-homozygous-for-the-x-chromosome-do-not-suffer-the-shorter-life-span-predicted-by-the-unguarded-x-hypothesis
#8
Martin Brengdahl, Christopher M Kimber, Jack Maguire-Baxter, Urban Friberg
Life span differs between the sexes in many species. Three hypotheses to explain this interesting pattern have been proposed, involving different drivers: sexual selection, asymmetrical inheritance of cytoplasmic genomes, and hemizygosity of the X(Z) chromosome (the unguarded X hypothesis). Of these, the unguarded X has received the least experimental attention. This hypothesis suggests that the heterogametic sex suffers a shortened life span because recessive deleterious alleles on its single X(Z) chromosome are expressed unconditionally...
March 2018: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/29360964/deciphering-the-link-between-doubly-uniparental-inheritance-of-mtdna-and-sex-determination-in-bivalves-clues-from-comparative-transcriptomics
#9
Charlotte Capt, Sébastien Renaut, Fabrizio Ghiselli, Liliana Milani, Nathan A Johnson, Bernard E Sietman, Donald T Stewart, Sophie Breton
Bivalves exhibit an astonishing diversity of sexual systems and sex-determining mechanisms. They can be gonochoric, hermaphroditic or androgenetic, with both genetic and environmental factors known to determine or influence sex. One unique sex-determining system involving the mitochondrial genome has also been hypothesized to exist in bivalves with doubly uniparental inheritance (DUI) of mtDNA. However, the link between DUI and sex determination remains obscure. In this study, we performed a comparative gonad transcriptomics analysis for two DUI-possessing freshwater mussel species to better understand the mechanisms underlying sex determination and DUI in these bivalves...
February 1, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29360959/disentangling-the-causes-for-faster-x-evolution-in-aphids
#10
Julie Jaquiéry, Jean Peccoud, Tiphaine Ouisse, Fabrice Legeai, Nathalie Prunier-Leterme, Anais Gouin, Pierre Nouhaud, Jennifer A Brisson, Ryan Bickel, Swapna Purandare, Julie Poulain, Christophe Battail, Claire Lemaitre, Lucie Mieuzet, Gael Le Trionnaire, Jean-Christophe Simon, Claude Rispe
The faster evolution of X chromosomes has been documented in several species, and results from the increased efficiency of selection on recessive alleles in hemizygous males and/or from increased drift due to the smaller effective population size of X chromosomes. Aphids are excellent models for evaluating the importance of selection in faster-X evolution because their peculiar life cycle and unusual inheritance of sex chromosomes should generally lead to equivalent effective population sizes for X and autosomes...
February 1, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29335026/congenital-anomalies-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#11
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen
BACKGROUND: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 were evaluated. METHODS: One thousand four hundred ten patients with NF1 were identified by searching the medical records related to inpatient and outpatient hospital visits of patients with an associated diagnosis for NF1 in 1987-2011...
January 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29297813/prevalence-of-cystinuria-in-servals-leptailurus-serval-in-the-united-states
#12
Sarah A Cannizzo, Mindy Stinner, Suzanne Kennedy-Stoskopf
Cystinuria is a condition caused by defects in amino acid transport within the kidneys and small intestines. It has been reported in humans, dogs, domestic cats, ferrets, nondomestic canids, and nondomestic felids, including servals ( Leptailurus serval). Genetic mutations have been identified in dogs, humans, and domestic cats. Cystinuria usually follows an autosomal recessive inheritance, although it can be autosomal dominant and sex linked. The primary objective of this study was to screen urine samples dried on filter paper from captive servals in the United States for cystinuria by using the cyanide-nitroprusside screening test...
December 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/29214050/paternal-phylogeographic-structure-of-the-brown-bear-ursus-arctos-in-northeastern-asia-and-the-effect-of-male-mediated-gene-flow-to-insular-populations
#13
Daisuke Hirata, Tsutomu Mano, Alexei V Abramov, Gennady F Baryshnikov, Pavel A Kosintsev, Koichi Murata, Ryuichi Masuda
Background: Sex-biased dispersal is widespread among mammals, including the brown bear ( Ursus arctos ). Previous phylogeographic studies of the brown bear based on maternally inherited mitochondrial DNA have shown intraspecific genetic structuring around the northern hemisphere. The brown bears on Hokkaido Island, northern Japan, comprise three distinct maternal lineages that presumably immigrated to the island from the continent in three different periods. Here, we investigate the paternal genetic structure across northeastern Asia and assess the connectivity among and within intraspecific populations in terms of male-mediated gene flow...
2017: Zoological Letters
https://www.readbyqxmd.com/read/29188318/myocardial-strain-using-cardiac-mr-feature-tracking-and-speckle-tracking-echocardiography-in-duchenne-muscular-dystrophy-patients
#14
Bryan Siegel, Laura Olivieri, Heather Gordish-Dressman, Christopher F Spurney
Duchenne muscular dystrophy (DMD) is an inherited X-linked disorder with an incidence of 1 in 3500 male births, and cardiomyopathy is becoming the leading cause of death. While Cardiac MRI (CMR) and late gadolinium enhancement (LGE) are important tools in recognizing myocardial involvement, myocardial strain imaging may demonstrate early changes and allow patients to avoid gadolinium contrast. We performed CMR feature tracking (FT) and echo-based speckle tracking (STE) strain measures on DMD patients and age/sex matched controls who had received a CMR with contrast and transthoracic echocardiogram...
March 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29180997/inherent-x-linked-genetic-variability-and-cellular-mosaicism-unique-to-females-contribute-to-sex-related-differences-in-the-innate-immune-response
#15
Zoltan Spolarics, Geber Peña, Yong Qin, Robert J Donnelly, David H Livingston
Females have a longer lifespan and better general health than males. Considerable number of studies also demonstrated that, after trauma and sepsis, females present better outcomes as compared to males indicating sex-related differences in the innate immune response. The current notion is that differences in the immuno-modulatory effects of sex hormones are the underlying causative mechanism. However, the field remains controversial and the exclusive role of sex hormones has been challenged. Here, we propose that polymorphic X-linked immune competent genes, which are abundant in the population are important players in sex-based immuno-modulation and play a key role in causing sex-related outcome differences following trauma or sepsis...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29064542/elevated-leukocyte-count-as-a-harbinger-of-systemic-inflammation-disease-progression-and-poor-prognosis-a-review
#16
Piotr Paweł Chmielewski, Bartłomiej Strzelec
Total leukocyte count increases significantly in response to infection, trauma, inflammation, and certain diseases. Factors affecting leukocyte count in healthy adults include sex, hormonal milieu, genetic inheritance, stress level, diet, nutrition, and lifestyle (e.g. tobacco-induced inflammatory changes, chronic psychological stress, etc.). To date, numerous studies have reported that high but normal leukocyte counts at baseline predict increased cardiovascular and noncardiovascular mortality in older adults...
October 24, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/29042182/are-endocrine-disrupting-compounds-environmental-risk-factors-for-autism-spectrum-disorder
#17
REVIEW
Amer Moosa, Henry Shu, Tewarit Sarachana, Valerie W Hu
Recent research on the etiology of autism spectrum disorder (ASD) has shifted in part from a singular focus on genetic causes to the involvement of environmental factors and their gene interactions. This shift in focus is a result of the rapidly increasing prevalence of ASD coupled with the incomplete penetrance of this disorder in monozygotic twins. One such area of environmentally focused research is the association of exposures to endocrine disrupting compounds (EDCs) with elevated risk for ASD. EDCs are exogenous chemicals that can alter endogenous hormone activity and homeostasis, thus potentially disrupting the action of sex and other natural hormones at all stages of human development...
October 23, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/29024790/dna-methylation-and-potential-multigenerational-epigenetic-effects-linked-to-uranium-chronic-low-dose-exposure-in-gonads-of-males-and-females-rats
#18
G Elmhiri, C Gloaguen, S Grison, D Kereselidze, C Elie, K Tack, M Benderitter, P Lestaevel, A Legendre, M Souidi
INTRODUCTION: An increased health problem in industrialised countries is the contemporary concern of public and scientific community as well. This has been attributed in part to accumulated environmental pollutants especially radioactive substances and the use of nuclear power plants worldwide. However, the outcome of chronic exposure to low doses of a radionuclide such as uranium remains unknown. Recently, a paradigm shift in the perception of risk of radiotoxicology has emerged through investigating the possibility of transmission of biological effects over generations, in particular by epigenetic pathways...
January 5, 2018: Toxicology Letters
https://www.readbyqxmd.com/read/28980227/sex-determining-mechanism-in-avians
#19
Asato Kuroiwa
The sex of birds is determined by inheritance of sex chromosomes at fertilization. The embryo with two Z chromosomes (ZZ) develops into a male; by contrast, the embryo with Z and W chromosomes (ZW) becomes female. Two theories are hypothesized for the mechanisms of avian sex determination that explain how genes carried on sex chromosomes control gonadal differentiation and development during embryogenesis. One proposes that the dosage of genes on the Z chromosome determines the sexual differentiation of undifferentiated gonads, and the other proposes that W-linked genes dominantly determine ovary differentiation or inhibit testis differentiation...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28902190/the-effects-of-outbreeding-on-a-parasitoid-wasp-fixed-for-infection-with-a-parthenogenesis-inducing-wolbachia-symbiont
#20
A R I Lindsey, R Stouthamer
Trichogramma wasps can be rendered asexual by infection with the maternally inherited symbiont Wolbachia. Previous studies indicate the Wolbachia strains infecting Trichogramma wasps are host-specific, inferred by failed horizontal transfer of Wolbachia to novel Trichogramma hosts. Additionally, Trichogramma can become dependent upon their Wolbachia infection for the production of female offspring, leaving them irreversibly asexual, further linking host and symbiont. We hypothesized Wolbachia strains infecting irreversibly asexual, resistant to horizontal transfer Trichogramma would show adaptation to a particular host genetic background...
December 2017: Heredity
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