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https://www.readbyqxmd.com/read/28938749/the-testicular-transcriptome-associated-with-spermatogonia-differentiation-initiated-by-gonadotrophin-stimulation-in-the-juvenile-rhesus-monkey-macaca-mulatta
#1
Suresh Ramaswamy, William H Walker, Paula Aliberti, Rahil Sethi, Gary R Marshall, Alyxzandria Smith, Seyedmehdi Nourashrafeddin, Alicia Belgorosky, Uma R Chandran, Mark P Hedger, Tony M Plant
STUDY QUESTION: What is the genetic landscape within the testis of the juvenile rhesus monkey (Macaca mulatta) that underlies the decision of undifferentiated spermatogonia to commit to a pathway of differentiation when puberty is induced prematurely by exogenous LH and FSH stimulation? SUMMARY ANSWER: Forty-eight hours of gonadotrophin stimulation of the juvenile monkey testis resulted in the appearance of differentiating B spermatogonia and the emergence of 1362 up-regulated and 225 down-regulated testicular mRNAs encoding a complex network of proteins ranging from enzymes regulating Leydig cell steroidogenesis to membrane receptors, and from juxtacrine and paracrine factors to transcriptional factors governing spermatogonial stem cell fate...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938747/prevalence-of-endocrine-and-genetic-abnormalities-in-boys-evaluated-systematically-for-a-disorder-of-sex-development
#2
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, M McMillan, A I Purvis, E S Tobias, R McGowan, S F Ahmed
STUDY QUESTION: What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER: An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS KNOWN ALREADY: Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938745/a-closer-look-at-expanded-carrier-screening-from-a-pgd-perspective
#3
Carolina Vaz-de-Macedo, Joyce Harper
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called 'expanded carrier screening'. While the ultimate aim of these panels is to increase the reproductive autonomy of the individuals and couples by providing preconception knowledge that could lead to the broadest range of available options, including PGD, we argue that: (i) Given the number and heterogeneity of the conditions included in panels, it cannot be guaranteed that a couple who tests positive for one of those conditions will be eligible for PGD; patients should be informed of this potential limitation before undertaking screening...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938739/sequence-variants-of-khdrbs1-as-high-penetrance-susceptibility-risks-for-primary-ovarian-insufficiency-by-mis-regulating-mrna-alternative-splicing
#4
Binbin Wang, Lin Li, Ying Zhu, Wei Zhang, Xi Wang, Beili Chen, Tengyan Li, Hong Pan, Jing Wang, Kehkooi Kee, Yunxia Cao
STUDY QUESTION: Does a novel heterozygous KHDRBS1 variant, identified using whole-exome sequencing (WES) in two patients with primary ovarian insufficiency (POI) in a pedigree, cause defects in mRNA alternative splicing? SUMMARY ANSWER: The heterozygous variant of KHDRBS1 was confirmed to cause defects in alternative splicing of many genes involved in DNA replication and repair. WHAT IS KNOWN ALREADY: Studies in mice revealed that Khdrbs1 deficient females are subfertile, which manifests as delayed sexual maturity and significantly reduced numbers of secondary and pre-antral follicles...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938721/the-draft-genome-sequence-of-a-desert-tree-populus-pruinosa
#5
Wenlu Yang, Kun Wang, Jian Zhang, Jianchao Ma, Jianquan Liu, Tao Ma
Populus pruinosa is a large tree that grows in deserts and shows distinct differences in both morphology and adaptation compared to its sister species, P. euphratica. Here we present a draft genome sequence for P. pruinosa and examine genomic variations between the 2 species. A total of 60 Gb of clean reads from whole-genome sequencing of a P. pruinosa individual were generated using the Illumina HiSeq2000 platform. The assembled genome is 479.3 Mb in length, with an N50 contig size of 14.0 kb and a scaffold size of 698...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28938719/population-wide-sampling-of-retrotransposon-insertion-polymorphisms-using-deep-sequencing-and-efficient-detection
#6
Qichao Yu, Wei Zhang, Xiaolong Zhang, Yongli Zeng, Yeming Wang, Yanhui Wang, Liqin Xu, Xiaoyun Huang, Nannan Li, Xinlan Zhou, Jie Lu, Xiaosen Guo, Guibo Li, Yong Hou, Shiping Liu, Bo Li
Active retrotransposons play important roles during evolution and continue to shape our genomes today, especially in genetic polymorphisms underlying a diverse set of diseases. However, studies of human retrotransposon insertion polymorphisms (RIPs) based on whole-genome deep sequencing at the population level have not been sufficiently undertaken, despite the obvious need for a thorough characterization of RIPs in the general population. Herein, we present a novel and efficient computational tool called Specific Insertions Detector (SID) for the detection of non-reference RIPs...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28938691/concomitant-eml4-alk-rearrangement-and-egfr-mutation-in-non-small-cell-lung-cancer-patients-a-literature-review-of-100-cases
#7
REVIEW
Giuseppe Lo Russo, Martina Imbimbo, Giulia Corrao, Claudia Proto, Diego Signorelli, Milena Vitali, Monica Ganzinelli, Laura Botta, Nicoletta Zilembo, Filippo de Braud, Marina Chiara Garassino
The discovery of EGFR mutations and EML4-ALK gene rearrangements has radically changed the therapeutic scenario for patients with advanced non-small cell lung cancer. ALK and EGFR tyrosine-kinase inhibitors showed better activity and efficacy than standard chemotherapy in the first and second line treatment settings, leading to a clear advantage in overall survival of advanced non-small cell lung cancer patients harboring these genetic alterations. Historically the coexistence of EGFR mutations and EML4-ALK rearrangements in the same tumor has been described as virtually impossible...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938685/a-case-control-study-of-the-association-between-the-egfr-gene-and-glioma-risk-in-a-chinese-han-population
#8
Mengdan Yan, Jingjie Li, Na He, Xugang Shi, Shuli Du, Bin Li, Tianbo Jin
The Epidermal Growth Factor Receptor gene has been reported to be involved in the progression of gliomas which is one of the deadliest primary brain tumors in humans. To determine potential association between EGFR and glioma risk, we performed a case-control study with 394 glioma patients and 298 cancer-free controls in which captured a total of 8 tag single nucleotide polymorphisms of EGFR gene from Xi'an, China. SPSS 19.0 statistical packages, χ(2) test, genetic model analysis and SHEsis software platform were analyzed s the variants in EGFR gene associations with glioma risk...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938649/family-based-whole-exome-sequencing-of-atopic-dermatitis-complicated-with-cataracts
#9
Wenxin Luo, Wangdong Xu, Lin Xia, Dan Xie, Lin Wang, Zaipei Guo, Yue Cheng, Yi Liu, Weimin Li
BACKGROUND: Atopic dermatitis (AD) is a common skin disorder with elevated prevalence. Cataract induced by AD rarely occurs in adolescent and young adult patients, which is also called atopic cataract. Using whole exome sequencing, we aimed to explore genetic alterations among AD and atopic cataract. RESULT: We recruited a 19 year-old Chinese male with AD accompanied with cataracts, his father with AD and his mother without AD or cataract. Through analysis of the exomic sequence of the 3 individuals from the same family, we identified that with respect to AD, there were 162 genes mutated in both this patient and his father but not in his mother...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938645/sex-specific-association-of-sh2b3-and-smarca4-polymorphisms-with-coronary-artery-disease-susceptibility
#10
Yuqiang Ji, Yanbin Song, Qingwen Wang, Pengcheng Xu, Zhao Zhao, Xia Li, Nan Wang, Tianbo Jin, Chao Chen
To determine whether sex differences affect the association between genetic polymorphisms and coronary artery disease (CAD) in the Chinese Han population, we conducted a study comparing the frequency of SH2B3 and SMARCA4 variants in 456 CAD patients (291 men, 165 women) and 685 age-matched controls (385 men, 300 women). Ten single nucleotide polymorphisms (SNPs) in SH2B3 and SMARCA4 were genotyped using MassARRAY technology. Allelic and genotypic models and haplotype frequencies were compared between groups...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938640/association-of-two-obesity-related-gene-polymorphisms-lepg2548a-rs7799039-and-leprq223r-rs1137101-with-the-risk-of-breast-cancer
#11
Hui Luan, Hong Zhang, Ying Li, Ping Wang, Lifei Cao, Honglan Ma, Qing Cui, Gang Tian
Many studies have been performed to investigate the correlation of leptin (LEP) and leptin receptor (LEPR) polymorphisms with breast cancer (BC) risk, however the results are inconclusive. To obtain a more precise estimation, we conducted this meta-analysis. We searched PubMed, EMBASE, and Web of Science databases to identify qualified studies. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to evaluate the association. Eight eligible studies (2,124 cases and 5,476 controls) for LEP G2548A (rs7799039) polymorphism, and thirteen studies (5,282 cases and 6,140 controls) for LEPR Q223R (rs1137101) polymorphism were included in our study...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938604/inflammation-and-stem-markers-association-to-pim1-pim2-kinase-induced-tumors-in-breast-and-uterus
#12
Manuel-Pedro Jiménez-García, Antonio Lucena-Cacace, María-José Robles-Frías, Irene Ferrer, Maja Narlik-Grassow, Carmen Blanco-Aparicio, Amancio Carnero
The PIM family of Ser/Thr kinase proteins has been implicated in tumorigenesis at different levels. PIM proteins are overexpressed in several tumor types and have been associated with chemoresistance. However, their role in hormone-dependent female tissues has not been explored, especially in the uterus, breast and ovary. We generated conditional transgenic mice with confined expression of human PIM1 or PIM2 genes in these tissues. We characterized the tumoral response to these genetic alterations corroborating their role as oncogenes since they induce hyperproliferation in all tissues and tumors in mammary gland and uterus...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938558/human-menstrual-blood-derived-mesenchymal-stem-cells-as-a-cellular-vehicle-for-malignant-glioma-gene-therapy
#13
Xiao-Jun Wang, Bing-Yu Xiang, Ya-Hui Ding, Lu Chen, Hai Zou, Xiao-Zhou Mou, Charlie Xiang
Despite many advances in conventional treatment strategies, there is no effective treatment modality for malignant gliomas. Gene therapy may offer a promising option for gliomas and several gene therapy approaches have shown anti-tumor efficiency in previous studies. Mesenchymal stem cell-based gene therapies, in which stem cells are genetically engineered to express therapeutic molecules, have shown tremendous potential because of their innate homing ability. In this study, human menstrual blood-derived MSCs (MenSC), a novel type of multipotential MSCs displays tropism for human malignant glioma when used as a gene delivery vehicle for therapeutics...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938539/dissemination-of-macrolides-fusidic-acid-and-mupirocin-resistance-among-staphylococcus-aureus-clinical-isolates
#14
Xingmei Liu, Shanshan Deng, Jinwei Huang, Yaling Huang, Yu Zhang, Qin Yan, Yanhong Wang, Yanyue Li, Chengfu Sun, Xu Jia
As an increasingly common cause of skin infections worldwide, the prevalence of antibiotic-resistant Staphylococcus aureus (S. aureus) across China has not been well documented. This literature aims to study the resistance profile to commonly used antibiotics, including macrolides, fusidic acid (FA) and mupirocin, and its relationship to the genetic typing in 34 S. aureus strains, including 6 methicillin-resistant S. aureus (MRSA), isolated from a Chinese hospital. The MIC results showed 27 (79.4%), 1 (2.9%) and 6 (17...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938490/expression-of-contactin-4-is-associated-with-malignant-behavior-in-pheochromocytomas-and-paragangliomas
#15
Lucie Evenepoel, Francien H van Nederveen, Lindsey Oudijk, Thomas G Papathomas, David F Restuccia, Eric J T Belt, Wouter W de Herder, Richard A Feelders, Gaston J H Franssen, Marc Hamoir, Dominique Maiter, Aurel Perren, Henri J L M Timmers, Susanne van Eeden, Laurent Vroonen, Selda Aydin, Mercedes Robledo, Miikka Vikkula, Ronald R de Krijger, Winand N M Dinjens, Alexandre Persu, Esther Korpershoek
Context: Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine, usually benign tumors. Currently, the only reliable criterion of malignancy is the presence of metastases. Objective: The aim was to identify genes associated with malignancy in PPGL. Design: Transcriptomic profiling was performed on 40 benign and 11 malignant PPGL. Genes showing a significantly different expression between benign and malignant PPGL with a ratio ≥ 4 were confirmed, and subsequently tested in an independent series by qRT-PCR...
August 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938476/fetal-and-maternal-genetic-variants-influencing-neonatal-vitamin-d-status
#16
Ketil Størdal, Karl Mårild, German Tapia, Margareta Haugen, Arieh S Cohen, Benedicte A Lie, Lars C Stene
Objective: Several genetic polymorphisms determine vitamin D status. We aimed to estimate the strength of association of established 25-hydroyxvitamin D (25OHD) associated variants in the mother and in the fetus, with 25OHD concentration in newborn umbilical cord plasma. Methods: We randomly selected 578 mother and child dyads from the prospective Norwegian Mother and Child Cohort study (MoBa). 25OHD was assayed in maternal samples taken shortly after delivery and in cord samples...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938470/genetic-disruption-of-21-hydroxylase-in-zebrafish-causes-interrenal-hyperplasia
#17
Helen Eachus, Andreas Zaucker, James A Oakes, Aliesha Griffin, Meltem Weger, Tülay Güran, Angela Taylor, Abigail Harris, Andy Greenfield, Jonathan L Quanson, Karl-Heinz Storbeck, Vincent T Cunliffe, Ferenc Müller, Nils Krone
Congenital adrenal hyperplasia is a group of common inherited disorders leading to glucocorticoid deficiency. Most cases are caused by 21-hydroxylase deficiency (21OHD). The systemic consequences of imbalanced steroid hormone biosynthesis due to severe 21OHD remains poorly understood. Therefore, we have developed a zebrafish model for 21OHD, which focuses on the impairment of glucocorticoid biosynthesis. A single 21-hydroxylase gene (cyp21a2) is annotated in the zebrafish genome based on sequence homology. Our in silico analysis of the Cyp21a2 protein sequence suggests a sufficient degree of similarity for the usage of zebrafish cyp21a2 to model aspects of human 21OHD in vivo...
September 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938457/the-association-of-estrogen-receptor-%C3%AE-gene-variation-with-salt-sensitive-blood-pressure
#18
Worapaka Manosroi, Jia Wei Tan, Chevon M Rariy, Bei Sun, Mark O Goodarzi, Aditi R Saxena, Jonathan S Williams, Luminita H Pojoga, Jessica Lasky-Su, Jinrui Cui, Xiuqing Guo, Kent D Taylor, Yii-Der I Chen, Anny H Xiang, Willa A Hsueh, Leslie J Raffel, Thomas A Buchanan, Jerome I Rotter, Gordon H Williams, Ellen W Seely
Context: Hypertension in young women is uncommon compared to young men and older women. Estrogen appears to protect most women against hypertension with incidence increasing after menopause. Since some premenopausal women develop hypertension, estrogen may play a different role in these women. Genetic variations in the estrogen receptor (ER) are associated with cardiovascular disease. ER-β, encoded by ESR2, is the ER predominantly expressed in vascular smooth muscle. Objective: To determine an association of single nucleotide polymorphisms (SNPs) in ESR2 with salt-sensitivity of blood pressure (SSBP) and estrogen status in women...
September 5, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938448/novel-autosomal-dominant-pth-gene-signal-sequence-mutation-in-a-family-with-familial-isolated-hypoparathyroidism
#19
Luigia Cinque, Angelo Sparaneo, Laura Penta, Amedea Mencarelli, Daniela Rogaia, Susanna Esposito, Federico Pio Fabrizio, Filomena Baorda, Alberto Verrotti, Alberto Falorni, Gabriela Stangoni, Geoffrey N Hendy, Vito Guarnieri, Paolo Prontera
Context: Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein alpha 11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only 4 cases with homozygous and 2 cases with heterozygous mutations in the PTH gene have been reported. Objective: To clinically describe an FIH family and identify and characterize the causal gene mutation...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938432/mitochondrial-function-regulated-by-mitoguardin-1-2-is-crucial-for-ovarian-endocrine-functions-and-ovulation
#20
Xiao-Man Liu, Yin-Li Zhang, Shu-Yan Ji, Long-Wen Zhao, Wei-Na Shang, Dali Li, Zijiang Chen, Chao Tong, Heng-Yu Fan
The balances of mitochondrial dynamic changes, mitochondrial morphology, and mitochondrial number are critical in cell metabolism. Once disturbed, disorders in these processes generally cause diseases or even death in animals. We performed large-scale genetic screenings in fruit flies and discovered the new gene mitoguardin (miga) that encodes for a mitochondrial outer membrane protein. In order to examine the physiological functions of its mammalian homologs Miga1 and 2, we generated Miga1 and Miga2 single- and double-knockout mouse strains and found that the knockout mice were viable, but the females were subfertile...
August 23, 2017: Endocrinology
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