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https://www.readbyqxmd.com/read/28635420/the-most-common-comorbidities-in-dandy-walker-syndrome-patients-a-systematic-review-of-case-reports
#1
Emelina Stambolliu, Myrsini Ioakeim-Ioannidou, Kimonas Kontokostas, Maria Dakoutrou, Antonis A Kousoulis
OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in <1 year old (40...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28633362/human-papillomavirus-related-oropharyngeal-cancer
#2
M Taberna, M Mena, M A Pavón, L Alemany, M L Gillison, R Mesía
High-risk (HR) human papillomavirus (HPV) is now recognised as the principal cause of the increasing incidence rates of oropharyngeal squamous cell carcinoma (OPSCC) in some parts of the world.The primary risk factor for developing HPV-related OPSCC is oral HPV-infection and the majority of oral HPV-infections are acquired by oral sex. Progression into a OPSCC includes persistent infection with evasion of immune response in the microenvironment, the activation of viral early genes (E6, E7) in basal epithelial cells, the deregulation of cell cycle and the accumulation of chromosomal instability...
June 15, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28632173/gene-expression-profiling-reveals-potential-players-of-left-right-asymmetry-in-female-chicken-gonads
#3
Zhiyi Wan, Yanan Lu, Lei Rui, Xiaoxue Yu, Fang Yang, Chengfang Tu, Zandong Li
Most female birds develop only a left ovary, whereas males develop bilateral testes. The mechanism underlying this process is still not completely understood. Here, we provide a comprehensive transcriptional analysis of female chicken gonads and identify novel candidate side-biased genes. RNA-Seq analysis was carried out on total RNA harvested from the left and right gonads on embryonic day 6 (E6), E12, and post-hatching day 1 (D1). By comparing the gene expression profiles between the left and right gonads, 347 differentially expressed genes (DEGs) were obtained on E6, 3730 were obtained on E12, and 2787 were obtained on D1...
June 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28632005/sleep-problems-and-life-satisfaction-as-predictors-of-health-in-men-with-sex-chromosome-aneuploidies
#4
Krister W Fjermestad, Simen Stokke
More knowledge is needed about men with sex chromosome aneuploidies (SCA). We present self-reported data from 53 men with SCA (Mage = 36.8 years, SD = 12.3, range 19-67). The Health Survey-Short Form (SF-36) measured eight health domains (physical functioning, role-physical, role-emotional, vitality, emotional health, social functioning, pain, general health). The Pittsburgh Sleep Quality Index measured sleep problems. The Personal Wellbeing Index measured satisfaction with eight life domains. Compared to norms, SCA reported poorer health (mean d = -0...
February 21, 2017: Behavioral Medicine
https://www.readbyqxmd.com/read/28630932/differential-intron-retention-in-jumonji-chromatin-modifier-genes-is-implicated-in-reptile-temperature-dependent-sex-determination
#5
Ira W Deveson, Clare E Holleley, James Blackburn, Jennifer A Marshall Graves, John S Mattick, Paul D Waters, Arthur Georges
In many vertebrates, sex of offspring is determined by external environmental cues rather than by sex chromosomes. In reptiles, for instance, temperature-dependent sex determination (TSD) is common. Despite decades of work, the mechanism by which temperature is converted into a sex-determining signal remains mysterious. This is partly because it is difficult to distinguish the primary molecular events of TSD from the confounding downstream signatures of sexual differentiation. We use the Australian central bearded dragon, in which chromosomal sex determination is overridden at high temperatures to produce sex-reversed female offspring, as a unique model to identify TSD-specific features of the transcriptome...
June 2017: Science Advances
https://www.readbyqxmd.com/read/28630649/a-complete-duplication-of-x-chromosome-resulting-in-a-tricentric-isochromosome-originated-by-centromere-repositioning
#6
N Villa, D Conconi, D Gambel Benussi, G Tornese, F Crosti, E Sala, L Dalprà, V Pecile
BACKGROUND: Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line. CASE PRESENTATION: We report a case of chromosome X complex rearrangement found in a prenatal diagnosis. The fetal karyotype showed a mosaicism with a 45,X cell line and a 46 chromosomes second line with a big marker, instead of a sex chromosome...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28630379/the-association-between-telomere-length-and-mortality-in-bangladesh
#7
Samantha G Dean, Chenan Zhang, Jianjun Gao, Shantanu Roy, Justin Shinkle, Mekala Sabarinathan, Maria Argos, Lin Tong, Alauddin Ahmed, Md Tariqul Islam, Tariqul Islam, Muhammad Rakibuz-Zaman, Golam Sarwar, Hasan Shahriar, Mahfuzar Rahman, Md Yunus, Joseph H Graziano, Lin S Chen, Farzana Jasmine, Muhammad G Kibriya, Habibul Ahsan, Brandon L Pierce
Telomeres are tandem repeat sequences at the end of chromosomes that bind proteins to protect chromosome ends. Telomeres shorten with age, and shorter leukocyte telomere length (TL) has been associated with overall mortality in numerous studies. However, this association has not been tested in populations outside of Europe and the U.S. We assessed the association between TL and subsequent mortality using data on 744 mortality cases and 761 age-/sex-matched controls sampled from >27,000 participants from three longitudinal Bangladeshi cohorts: Health Effects of Arsenic Longitudinal Study (HEALS), HEALS Expansion (HEALS-E), and Bangladesh Vitamin E and Selenium Trial (BEST)...
June 15, 2017: Aging
https://www.readbyqxmd.com/read/28630332/evolutionary-strata-on-young-mating-type-chromosomes-despite-the-lack-of-sexual-antagonism
#8
Sara Branco, Hélène Badouin, Ricardo C Rodríguez de la Vega, Jérôme Gouzy, Fantin Carpentier, Gabriela Aguileta, Sophie Siguenza, Jean-Tristan Brandenburg, Marco A Coelho, Michael E Hood, Tatiana Giraud
Sex chromosomes can display successive steps of recombination suppression known as "evolutionary strata," which are thought to result from the successive linkage of sexually antagonistic genes to sex-determining genes. However, there is little evidence to support this explanation. Here we investigate whether evolutionary strata can evolve without sexual antagonism using fungi that display suppressed recombination extending beyond loci determining mating compatibility despite lack of male/female roles associated with their mating types...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28628359/the-genetic-basis-for-sex-differences-in-obesity-and-lipid-metabolism
#9
Jenny C Link, Karen Reue
Men and women exhibit significant differences in obesity, cardiovascular disease, and diabetes. To provide better diagnosis and treatment for both sexes, it is important to identify factors that underlie the observed sex differences. Traditionally, sex differences have been attributed to the differential effects of male and female gonadal secretions (commonly referred to as sex hormones), which substantially influence many aspects of metabolism and related diseases. Less appreciated as a contributor to sex differences are the fundamental genetic differences between males and females, which are ultimately determined by the presence of an XX or XY sex chromosome complement...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28626004/sex-chromosome-evolution-heterochiasmy-and-physiological-qtl-in-the-salmonid-brook-charr-salvelinus-fontinalis
#10
Ben J G Sutherland, Ciro Rico, Céline Audet, Louis Bernatchez
Whole genome duplication can have large impacts on genome evolution, and much remains unknown about these impacts. This includes the mechanisms of coping with a duplicated sex determination system and whether this has an impact on increasing the diversity of sex determination mechanisms. Other impacts include sexual conflict, where alleles having different optimums in each sex can result in sequestration of genes into non-recombining sex chromosomes. Sex chromosome development itself may involve sex-specific recombination rate (i...
June 16, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28620252/an-immunological-approach-of-sperm-sexing-and-different-methods-for-identification-of-x-and-y-chromosome-bearing-sperm
#11
REVIEW
Shiv Kumar Yadav, Dharmendra Kumar Gangwar, Jarnail Singh, Chiranjeev Kumar Tikadar, V Vinoth Khanna, Sudha Saini, Sunny Dholpuria, Prabhat Palta, Radhey Shyam Manik, Manoj Kumar Singh, Suresh Kumar Singla
Separation of X- and Y-chromosome bearing sperm has been practiced for selection of desired sex of offspring to increase the profit in livestock industries. At present, fluorescence-activated cell sorter is the only successful method for separation of X- and Y-chromosome bearing sperm. This technology is based on the differences in DNA content between these two types of sperm and has been commercialized for bovine sperm. However, this technology still has problems in terms of high economic cost, sperm damage, and lower pregnancy rates compared to unsorted semen...
May 2017: Veterinary World
https://www.readbyqxmd.com/read/28619849/the-house-fly-y-chromosome-is-young-and-minimally-differentiated-from-its-ancient-x-chromosome-partner
#12
Richard P Meisel, Christopher A Gonzales, Hoang Luu
Canonical ancient sex chromosome pairs consist of a gene rich X (or Z) chromosome and a male- (or female-) limited Y (or W) chromosome that is gene poor. In contrast to highly differentiated sex chromosomes, nascent sex chromosome pairs are homomorphic or very similar in sequence content. Nascent sex chromosomes can arise if an existing sex chromosome fuses to an autosome or an autosome acquires a new sex-determining locus/allele. Sex chromosomes often differ between closely related species and can even be polymorphic within species, suggesting that nascent sex chromosomes arise frequently over the course of evolution...
June 15, 2017: Genome Research
https://www.readbyqxmd.com/read/28618411/prevalence-and-physical-distribution-of-sry-in-the-gonads-of-a-woman-with-turner-syndrome-phenotypic-presentation-tubal-formation-and-malignancy-risk
#13
Tamar G Baer, Christopher E Freeman, Claudia Cujar, Mahesh Mansukhani, Bahadur Singh, Xiaowei Chen, Rosanna Abellar, Sharon E Oberfield, Brynn Levy
Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du-plicated Yq chromosome...
June 15, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#14
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28612834/sex-chromosome-aneuploidies-and-copy-number-variants-a-further-explanation-for-neurodevelopmental-prognosis-variability
#15
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, Joris Andrieux, Séverine Audebert-Bellanger, Sabine Baron, Claire Beneteau, Frédéric Bilan, Odile Boute, Tiffany Busa, Valérie Cormier-Daire, Claude Ferec, Mélanie Fradin, Brigitte Gilbert-Dussardier, Sylvie Jaillard, Aia Jønch, Dominique Martin-Coignard, Sandra Mercier, Sébastien Moutton, Caroline Rooryck, Elise Schaefer, Marie Vincent, Damien Sanlaville, Cédric Le Caignec, Sébastien Jacquemont, Albert David, Bertrand Isidor
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV)...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28611373/is-there-any-clinical-relevant-difference-between-non-mosaic-klinefelter-syndrome-patients-with-or-without-androgen-receptor-variations
#16
Umberto Valente, Cinzia Vinanzi, Savina Dipresa, Riccardo Selice, Massimo Menegazzo, Massimo Iafrate, Carlo Foresta, Andrea Garolla
Klinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex hormones and sperm retrieval. Among 135 KS patients we found AR variations in eight subjects (5.9%). All variations but one caused a single amino acid substitution...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28611256/a-duplicated-truncated-amh-gene-is-involved-in-male-sex-determination-in-an-old-world-silverside
#17
Dilip Kumar Bej, Kaho Miyoshi, Ricardo S Hattori, Carlos A Strüssmann, Yoji Yamamoto
A master sex-determining gene, the Y chromosome-linked anti-Müllerian hormone (amhy), has been described in two New World atheriniform species but little is known on the distribution, evolution, and function(s) of this gene in other Atheriniformes. Interestingly, amhy has been found to coexist with temperature-dependent sex determination (TSD), providing a unique opportunity to explore the interplay between genotypic and environmental sex determination. In this study, the search for an amhy homologue was extended to an Old World atheriniform, the cobaltcap silverside Hypoatherina tsurugae (Atherinidae)...
June 13, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28611096/thymosin-beta-4-is-elevated-in-women-with-heart-failure-with-preserved-ejection-fraction
#18
Chester L Drum, Warren K Y Tan, Siew-Pang Chan, Leroy S Pakkiri, Jenny P C Chong, Oi-Wah Liew, Tze-Pin Ng, Lieng-Hsi Ling, David Sim, Kui-Toh G Leong, Daniel P S Yeo, Hean-Yee Ong, Fazlur Jaufeerally, Raymond C C Wong, Ping Chai, Adrian F Low, Pia Davidsson, Mathias Liljeblad, Ann-Sofi Söderling, Li-Ming Gan, Ratan V Bhat, Kristy Purnamawati, Carolyn S P Lam, A Mark Richards
BACKGROUND: Thymosin beta-4 (TB4) is an X-linked gene product with cardioprotective properties. Little is known about plasma concentration of TB4 in heart failure (HF), and its relationship with other cardiovascular biomarkers. We sought to evaluate circulating TB4 in HF patients with preserved (HFpEF) or reduced (HFrEF) ejection fraction compared to non-HF controls. METHODS AND RESULTS: TB4 was measured using a liquid chromatography and mass spectrometry assay in age- and sex-matched HFpEF (n=219), HFrEF (n=219) patients, and controls (n=219) from a prospective nationwide study...
June 13, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#19
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or azoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistently with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis...
June 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28610988/genome-wide-association-study-of-heart-rate-and-its-variability-in-hispanic-latino-cohorts
#20
Kathleen F Kerr, Christy L Avery, Henry J Lin, Laura M Raffield, Qian S Zhang, Brian L Browning, Sharon R Browning, Matthew P Conomos, Stephanie M Gogarten, Cathy C Laurie, Tamar Sofer, Timothy A Thornton, Chancellor Hohensee, Rebecca D Jackson, Charles Kooperberg, Yun Li, Raúl Méndez-Giráldez, Marco V Perez, Ulrike Peters, Alexander P Reiner, Zhu-Ming Zhang, Jie Yao, Nona Sotoodehnia, Kent D Taylor, Xiuqing Guo, Leslie A Lange, Elsayed Z Soliman, James G Wilson, Jerome I Rotter, Susan R Heckbert, Deepti Jain, Eric A Whitsel
BACKGROUND: Although time-domain measures of heart rate variability (HRV) are used to estimate cardiac autonomic tone and disease risk in multi-ethnic populations, the genetic epidemiology of HRV in Hispanics/Latinos has not been characterized. OBJECTIVE: Conduct a genome-wide association study (GWAS) of heart rate (HR) and its variability in the Hispanic Community Health Study / Study of Latinos, Multi-Ethnic Study of Atherosclerosis, and Women's Health Initiative Hispanic SNP-Health Association Resource project (n=13,767)...
June 10, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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