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sex-linked inheritance

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https://www.readbyqxmd.com/read/29335026/congenital-anomalies-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#1
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
#2
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
#3
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
#4
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...
November 29, 2017: 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
#5
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
#6
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
#7
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
#8
REVIEW
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...
October 9, 2017: Toxicology Letters
https://www.readbyqxmd.com/read/28980227/sex-determining-mechanism-in-avians
#9
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
#10
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
https://www.readbyqxmd.com/read/28852243/genealogy-study-of-three-generations-of-patients-with-bipolar-mood-disorder-type-i
#11
Bahman Salehi, Sara Khoz, Bahman Sadeghi, Manouchehr Amanat, Mona Salehi
INTRODUCTION: The purpose of this research is genealogy examination of three generation of bipolar mood disorder Type I patients. METHODS: Patients selected using Poisson sampling method from 100 patients with bipolar mood disorder Type I, referring to a psychiatric center of Amir Kabir Hospital of Arak, Iran. Examine issues such as physical ailments, psychological review of living and deceased family members of each patient, drawn family pedigree using pedigree chart, check the relationship of the different pattern of the autosomal dominant and recessive disease, sex-linked dominant and recessive and linked to Y chromosome have been performed on patients...
July 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28821382/sex-linked-behavior-evolution-stability-and-variability
#12
REVIEW
Cordelia Fine, John Dupré, Daphna Joel
Common understanding of human sex-linked behaviors is that proximal mechanisms of genetic and hormonal sex, ultimately shaped by the differential reproductive challenges of ancestral males and females, act on the brain to transfer sex-linked predispositions across generations. Here, we extend the debate on the role of nature and nurture in the development of traits in the lifetime of an individual, to their role in the cross-generation transfer of traits. Advances in evolutionary theory that posit the environment as a source of trans-generational stability, and new understanding of sex effects on the brain, suggest that the cross-generation stability of sex-linked patterns of behavior are sometimes better explained in terms of inherited socioenvironmental conditions, with biological sex fostering intrageneration variability...
July 29, 2017: Trends in Cognitive Sciences
https://www.readbyqxmd.com/read/28821346/sex-linked-behavior-evolution-stability-and-variability
#13
REVIEW
Cordelia Fine, John Dupré, Daphna Joel
Common understanding of human sex-linked behaviors is that proximal mechanisms of genetic and hormonal sex, ultimately shaped by the differential reproductive challenges of ancestral males and females, act on the brain to transfer sex-linked predispositions across generations. Here, we extend the debate on the role of nature and nurture in the development of traits in the lifetime of an individual, to their role in the cross-generation transfer of traits. Advances in evolutionary theory that posit the environment as a source of trans-generational stability, and new understanding of sex effects on the brain, suggest that the cross-generation stability of sex-linked patterns of behavior are sometimes better explained in terms of inherited socioenvironmental conditions, with biological sex fostering intrageneration variability...
September 2017: Trends in Cognitive Sciences
https://www.readbyqxmd.com/read/28816587/dna-methylation-independent-growth-restriction-and-altered-developmental-programming-in-a-mouse-model-of-preconception-male-alcohol-exposure
#14
Richard C Chang, William M Skiles, S Chronister Sarah, Haiqing Wang, Gabrielle I Sutton, Yudhishtar S Bedi, Matthew Snyder, Charles R Long, Michael C Golding
The preconception environment is a significant modifier of dysgenesis and the development of environmentally-induced disease. To date, Fetal Alcohol Spectrum Disorders (FASDs) have been exclusively associated with maternal exposures, yet emerging evidence suggests male-inherited alterations in the developmental program of sperm may be relevant to the growth-restriction phenotypes of this condition. Using a mouse model of voluntary consumption, we find chronic preconception male ethanol exposure associates with fetal growth restriction, decreased placental efficiency, abnormalities in cholesterol trafficking, sex-specific alterations in the genetic pathways regulating hepatic fibrosis, and disruptions in the regulation of imprinted genes...
August 17, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28807754/transgenerational-effects-of-early-environmental-insults-on-aging-and-disease-incidence
#15
REVIEW
Mirela Ambeskovic, Tessa J Roseboom, Gerlinde A S Metz
Adverse early life experiences are major influences on developmental trajectories with potentially life-long consequences. Prenatal or early postnatal exposure to stress, undernutrition or environmental toxicants may reprogram brain development and increase risk of behavioural and neurological disorders later in life. Not only experience within a single lifetime, but also ancestral experience affects health trajectories and chances of successful aging. The central mechanism in transgenerational programming of a disease may be the formation of epigenetic memory...
August 12, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28771244/de-novo-and-rare-inherited-copy-number-variations-in-the-hemiplegic-form-of-cerebral-palsy
#16
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R MacDonald, Matthew J Gazzellone, Edward J Higginbotham, Craig Campbell, Gabrielle deVeber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna McCormick, Ronit Mesterman, Dawa Samdup, Christian R Marshall, Dimitri J Stavropoulos, Richard F Wintle, Stephen W Scherer
PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28768847/cross-sectional-analysis-of-a-large-cohort-with-x-linked-charcot-marie-tooth-disease-cmtx1
#17
MULTICENTER STUDY
Francis B Panosyan, Matilde Laura, Alexander M Rossor, Chiara Pisciotta, Giuseppe Piscosquito, Joshua Burns, Jun Li, Sabrina W Yum, Richard A Lewis, John Day, Rita Horvath, David N Herrmann, Michael E Shy, Davide Pareyson, Mary M Reilly, Steven S Scherer
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 different mutations) seen at the Inherited Neuropathies Consortium centers. RESULTS: We evaluated 87 males who had a mean age of 41 years (range 10-78 years) and 73 females who had a mean age of 46 years (range 15-84 years)...
August 29, 2017: Neurology
https://www.readbyqxmd.com/read/28743543/a-recurrent-synonymous-mutation-in-the-human-androgen-receptor-gene-causing-complete-androgen-insensitivity-syndrome
#18
Rafael Loch Batista, Andresa di Santi Rodrigues, Mirian Yumie Nishi, Nathalia Lisboa Gomes, José Antonio Diniz Faria, Daniela Rodrigues de Moraes, Luciani Renata Carvalho, Elaine Maria Frade Costa, Sorahia Domenice, Berenice Bilharinho Mendonca
Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS)...
November 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28659664/inherited-variation-in-cytokine-acute-phase-response-and-calcium-metabolism-genes-affects-susceptibility-to-infective-endocarditis
#19
Anastasia V Ponasenko, Anton G Kutikhin, Maria V Khutornaya, Natalia V Rutkovskaya, Natalia V Kondyukova, Yuri N Odarenko, Yana V Kazachek, Anna V Tsepokina, Leonid S Barbarash, Arseniy E Yuzhalin
Infective endocarditis (IE) is a septic inflammation of the endocardium. Recognition of microbial patterns, cytokine and acute phase responses, hemostasis features, and alterations in plasma lipid and calcium profile all have been reported to affect pathogenesis and clinical course of IE. Having recruited 123 patients with IE and 300 age-, sex-, and ethnicity-matched healthy blood donors, we profiled their genomic DNA for 35 functionally significant polymorphisms within the 22 selected genes involved in the abovementioned pathways, with the further genetic association analysis...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28566542/wolbachia-induced-meiotic-drive-and-feminization-is-associated-with-an-independent-occurrence-of-selective-mitochondrial-sweep-in-a-butterfly
#20
Mai Miyata, Tatsuro Konagaya, Kenji Yukuhiro, Masashi Nomura, Daisuke Kageyama
Maternally inherited Wolbachia endosymbionts manipulate arthropod reproduction in various ways. In the butterfly Eurema mandarina, a cytoplasmic incompatibility-inducing Wolbachia strain wCI and the associated mtDNA haplotypes are known to originate from the sister species Eurema hecabe, which offered a good case study for microbe-mediated hybrid introgression. Besides wCI, some females with the Z0 karyotype harbour a distinct Wolbachia strain wFem, which causes all-female production by meiotic drive and feminization...
May 2017: Biology Letters
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