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https://www.readbyqxmd.com/read/30512150/-genetic-analysis-of-a-46-xy-female-with-sex-reversal-due-to-duplication-of-nr0b1-gene
#1
Shengfang Qin, Xueyan Wang, Yunxing Li
OBJECTIVE: To explore the pathogenesis of a 46,XY female with sex reversal. METHODS: Peripheral blood lymphocytes of the patient were subjected to G-banding karyotype analysis. Sex chromosomes were analyzed with fluorescence in situ hybridization (FISH). SRY gene was analyzed by Sanger sequencing. The whole exome of the patient was subjected to next generation sequencing. Copy number variations (CNVs) of the NR0B1, SF1, SRY, SOX9 and WNT4 genes were validated by multiplex ligation-dependent probe amplification (MLPA)...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30509117/gaba-promotes-%C3%AE-cell-proliferation-but-does-not-overcome-impaired-glucose-homeostasis-associated-with-diet-induced-obesity
#2
Ashley Untereiner, Shaaban Abdo, Alpana Bhattacharjee, Himaben Gohil, Farzaneh Pourasgari, Neke Ibeh, Mi Lai, Battsetseg Batchuluun, Anthony Wong, Nicholas Khuu, Ying Liu, Dana Al Rijjal, Neil Winegarden, Carl Virtanen, Beverley A Orser, Over Cabrera, Gabor Varga, Jonathan Rocheleau, Feihan F Dai, Michael B Wheeler
γ-Aminobutyric acid (GABA) administration has been shown to increase β-cell mass, leading to a reversal of type 1 diabetes in mice. Whether GABA has any effect on β cells of healthy and prediabetic/glucose-intolerant obese mice remains unknown. In the present study, we show that oral GABA administration ( ad libitum) to mice indeed increased pancreatic β-cell mass, which led to a modest enhancement in insulin secretion and glucose tolerance. However, GABA treatment did not further increase insulin-positive islet area in high fat diet-fed mice and was unable to prevent or reverse glucose intolerance and insulin resistance...
December 3, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/30476341/all-trans-retinoic-acid-disrupts-development-in-ex-vivo-cultured-fetal-rat-testes-ii-modulation-of-mono-2-ethylhexyl-phthalate-toxicity
#3
Daniel J Spade, Susan J Hall, Jeremy D Wortzel, Gerardo Reyes, Kim Boekelheide
Humans are universally exposed to low levels of phthalate esters (phthalates), which are used to plasticize polyvinyl chloride. Phthalates exert adverse effects on the development of seminiferous cords in the fetal testis through unknown toxicity pathways. To investigate the hypothesis that phthalates alter seminiferous cord development by disrupting retinoic acid signaling in the fetal testis, gestational day 15 fetal rat testes were exposed for 1-3 days to 10-6 M all-trans retinoic acid (ATRA) alone or in combination with 10-6 to 10-4 M mono-(2-ethylhexyl) phthalate (MEHP) in ex vivo culture...
November 26, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/30475758/targeted-regulation-by-rock2-on-bladder-carcinoma-via-wnt-signaling-under-hypoxia
#4
Junfeng Luo, Zhengda Lou, Junzheng Zheng
Bladder cancer is frequently occurred in urinary system and has complicated pathogenesis factors including both genetics and environmental factors that have not been fully illustrated. Hypoxia can further induce tumor progression. ROCK2 has abnormal expression in various tumors but its expression or functional role in bladder cancer have not been illustrated. In vitro cultured bladder cancer cell line T24 was randomly assigned into control group, hypoxia group (prepared under hypoxic culture), and ROCK2 siRNA group (transfected with ROCK2 siRNA after hypoxia treatment)...
November 11, 2018: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/30458290/the-effect-of-colchicum-pusillum-in-human-colon-cancer-cells-via-wnt-%C3%AE-catenin-pathway
#5
Eda Becer, Duygu Yiğit Hanoğlu, Hilal Kabadayı, Azmi Hanoğlu, Seda Vatansever, Dudu Özkum Yavuz, Filiz Meriçli, Ali Hikmet Meriçli
OBJECTIVE: Colchicum pusillum belongs to the family Colchicaceae that particularly rich in tropolonic alkaloids. The aim of this study was to investigate the cytotoxicity and in vitro anticancer activity of Colchicum pusillum ethanolic extract on Colo-320 primer and Colo-741 metastatic colon adenocarcinoma cell lines. MATERIALS AND METHODS: Colchicum pusillum was collected and extracted with ethanol. Different concentrations of Colchicum pusillum extract were incubated for 24 h and 48 h with Colo-320 and Colo-741 cells...
November 17, 2018: Gene
https://www.readbyqxmd.com/read/30457351/relationship-of-wnt4-gene-with-the-risk-of-epithelial-ovarian-cancer-a-han-chinese-population-based-association-study
#6
Juanjuan Zhang, Penghua Zhang, Yunfeng Shen, Mei Yang, Hongxia Zou, Hongliang Liu
OBJECTIVE: In China, epithelial ovarian cancer (EOC) patients account for the majority of ovarian cancer patients. The pathogenesis of EOC, one of the most lethal gynecological malignancies, remains unclear. Recently, the role of WNT4 in gynecological disease and tumor development was reported, and a suspicious association of WNT4 with EOC was identified in Europeans. However, the contributions of the WNT4 gene to EOC and the underlying molecular mechanisms remains largely unknown. To determine whether the WNT4 gene is associated with EOC, this study investigated polymorphisms of the WNT4 gene in Han Chinese individuals...
November 17, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30446521/female-sex-development-and-reproductive-duct-formation-depend-on-wnt4a-in-zebrafish
#7
Michelle E Kossack, Samantha K High, Rachel E Hopton, Yi-Lin Yan, John H Postlethwait, Bruce W Draper
In laboratory strains of zebrafish, sex determination occurs in the absence of a typical sex chromosome and it is not known what regulates the proportion of animals that develop as males or females. Many sex determination and gonad differentiation genes that act downstream of a sex chromosome are well conserved among vertebrates, but studies that test their contribution to this process have mostly been limited to mammalian models. In mammals, WNT4 is a signaling ligand that is essential for ovary and Müllerian duct development, where it antagonizes the male-promoting FGF9 signal...
November 16, 2018: Genetics
https://www.readbyqxmd.com/read/30439483/a-comparative-transcriptomic-study-on-developmental-gonads-provides-novel-insights-into-sex-change-in-the-protandrous-black-porgy-acanthopagrus-schlegelii
#8
Kai Zhang, Jin Xu, Zhiwei Zhang, Yu Huang, Zhiqiang Ruan, Shuyin Chen, Fei Zhu, Xinxin You, Chaofeng Jia, Qian Meng, Ruobo Gu, Xueqiang Lin, Junmin Xu, Pao Xu, Zhiyong Zhang, Qiong Shi
Protandrous black porgy (Acanthopagrus schlegelii) is a popular and valuable commercial marine fish in China and East Asian countries. Controlling and managing its breeding has been an imperative step towards obtaining a sustainable supply of this fish in aquaculture production systems. Therefore, study on the molecular mechanisms of sex change in black porgy has both scientific and commercial importance. Previously, we identified some candidate genes related to sex determination and differentiation from a high-quality genome assembly of the black porgy...
November 12, 2018: Genomics
https://www.readbyqxmd.com/read/30353040/spontaneous-premature-birth-as-a-target-of-genomic-research
#9
REVIEW
Mikko Hallman, Antti Haapalainen, Johanna M Huusko, Minna K Karjalainen, Ge Zhang, Louis J Muglia, Mika Rämet
Spontaneous preterm birth is a serious and common pregnancy complication associated with hormonal dysregulation, infection, inflammation, immunity, rupture of fetal membranes, stress, bleeding, and uterine distention. Heredity is 25-40% and mostly involves the maternal genome, with contribution of the fetal genome. Significant discoveries of candidate genes by genome-wide studies and confirmation in independent replicate populations serve as signposts for further research. The main task is to define the candidate genes, their roles, localization, regulation, and the associated pathways that influence the onset of human labor...
September 18, 2018: Pediatric Research
https://www.readbyqxmd.com/read/30341100/-drosophila-ror-is-a-nervous-system-specific-co-receptor-for-wnt-ligands
#10
Caroline Ripp, Julia Loth, Iveta Petrova, Karen Linnemannstöns, Monique Ulepic, Lee Fradkin, Jasprien Noordermeer, Andreas Wodarz
Wnt ligands are secreted glycoproteins that control many developmental processes and are crucial for homeostasis of numerous tissues in the adult organism. Signal transduction of Wnts involves the binding of Wnts to receptor complexes at the surface of target cells. These receptor complexes are commonly formed between a member of the Frizzled family of seven-pass transmembrane proteins and a co-receptor, which is usually a single-pass transmembrane protein. Among these co-receptors are several with structural homology to receptor tyrosine kinases, including Ror, PTK7, Ryk and MUSK...
November 2, 2018: Biology Open
https://www.readbyqxmd.com/read/30337651/macrophages-promote-epithelial-proliferation-following-infectious-and-non-infectious-lung-injury-through-a-trefoil-factor-2-dependent-mechanism
#11
Li-Yin Hung, Debasish Sen, Taylor K Oniskey, Jeremey Katzen, Noam A Cohen, Andrew E Vaughan, Wildaliz Nieves, Anatoly Urisman, Michael F Beers, Matthew F Krummel, De'Broski R Herbert
Coordinated efforts between macrophages and epithelia are considered essential for wound healing, but the macrophage-derived molecules responsible for repair are poorly defined. This work demonstrates that lung macrophages rely upon Trefoil factor 2 to promote epithelial proliferation following damage caused by sterile wounding, Nippostrongylus brasiliensis or Bleomycin sulfate. Unexpectedly, the presence of T, B, or ILC populations was not essential for macrophage-driven repair. Instead, conditional deletion of TFF2 in myeloid-restricted CD11cCre TFF2 flox mice exacerbated lung pathology and reduced the proliferative expansion of CD45- EpCAM+ pro-SPC+ alveolar type 2 cells...
October 18, 2018: Mucosal Immunology
https://www.readbyqxmd.com/read/30329139/all-trans-retinoic-acid-disrupts-development-in-ex-vivo-cultured-fetal-rat-testes-i-altered-seminiferous-cord-maturation-and-testicular-cell-fate
#12
Daniel J Spade, Edward Dere, Susan J Hall, Christoph Schorl, Richard N Freiman, Kim Boekelheide
Exposure to excess retinoic acid disrupts the development of the mammalian testicular seminiferous cord. However, the molecular events surrounding retinoic acid-driven loss of cord structure have not previously been examined. To investigate the mechanisms associated with this adverse developmental effect, fetal rat testes were isolated on gestational day 15, after testis determination and the initiation of cord development, and cultured in media containing all-trans retinoic acid (ATRA; 10-8 to 10-6 M) or vehicle for 3 days...
October 17, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/30254435/in-vitro-molecular-study-of-wound-healing-using-biosynthesized-bacteria-nanocellulose-silver-nanocomposite-assisted-by-bioinformatics-databases
#13
Mona Moniri, Amin Boroumand Moghaddam, Susan Azizi, Raha Abdul Rahim, Saad Wan Zuhainis, Mohammad Navaderi, Rosfarizan Mohamad
Background: In recent years, bacterial nanocellulose (BNC) based nanocomposites have been developed to promote healing property and antibacterial activity of BNC wound dressing. Molecular study can help to better understanding about interaction of genes and pathways involved in healing progression. Objectives: The aim of this study was to prepare bacterial nanocellulose/silver (BNC/Ag) nanocomposite films as ecofriendly wound dressing in order to assess their physical, cytotoxicity and antimicrobial properties...
2018: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/30227435/conservation-of-ovary-specific-genes-foxl2-aromatase-and-rspo1-in-the-common-indian-garden-lizard-calotes-versicolor-that-lacks-chromosomal-or-temperature-dependent-sex-determination
#14
Priyanka, Vidisha Tripathi, Rajiva Raman
Foxl2,Rspo1, and Aromatase are genes important in the ovary developmental pathway in mammals and birds. Here, we show their presence in the lizard, Calotes versicolor, which is known to lack a chromosomal as well as a temperature-dependent mode of sex determination and has an indeterminate, bipotential gonad throughout embryonic development. The expression of the 3 genes, as well as that of CvSox9 and Wnt4 - the known testis and ovary pathway genes - was studied by RT-PCR and whole tissue RNA in situ hybridization (WRISH) on the developing mesonephros gonadal complex (MGC)...
September 15, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30226466/genetic-predisposition-to-uterine-leiomyoma-is-determined-by-loci-for-genitourinary-development-and-genome-stability
#15
Niko Välimäki, Heli Kuisma, Annukka Pasanen, Oskari Heikinheimo, Jari Sjöberg, Ralf Bützow, Nanna Sarvilinna, Hanna-Riikka Heinonen, Jaana Tolvanen, Simona Bramante, Tomas Tanskanen, Juha Auvinen, Outi Uimari, Amjad Alkodsi, Rainer Lehtonen, Eevi Kaasinen, Kimmo Palin, Lauri A Aaltonen
Uterine leiomyomas (ULs) are benign tumors that are a major burden to women's health. A genome-wide association study on 15,453 UL cases and 392,628 controls was performed, followed by replication of the genomic risk in six cohorts. Effects of the risk alleles were evaluated in view of molecular and clinical characteristics. 22 loci displayed a genome-wide significant association. The likely predisposition genes could be grouped to two biological processes. Genes involved in genome stability were represented by TERT, TERC, OBFC1 - highlighting the role of telomere maintenance - TP53 and ATM ...
September 18, 2018: ELife
https://www.readbyqxmd.com/read/30212243/reciprocal-changes-of-h3k27ac-and-h3k27me3-at-the-promoter-regions-of-the-critical-genes-for-endometrial-decidualization
#16
Noriko Katoh, Keiji Kuroda, Junko Tomikawa, Hiroko Ogata-Kawata, Rie Ozaki, Asako Ochiai, Mari Kitade, Satoru Takeda, Kazuhiko Nakabayashi, Kenichiro Hata
AIM: Decidualization is essential for embryo implantation and placental development. We aimed to obtain transcriptome and epigenome profiles for primary endometrial stromal cells (ESCs) and in vitro decidualized cells. MATERIALS & METHODS: ESCs isolated from human endometrial tissues remained untreated (D0), or decidualized for 4 days (D4) and 8 days (D8) in the presence of 8-bromo-cAMP and progesterone. RESULTS: Among the epigenetic modifications examined (DNA methylation, H3K27ac, H3K9me3 and H3K27me3), the H3K27ac patterns changed most dramatically, with a moderate correlation with gene expression changes, upon decidualization...
September 2018: Epigenomics
https://www.readbyqxmd.com/read/30194396/variants-associating-with-uterine-leiomyoma-highlight-genetic-background-shared-by-various-cancers-and-hormone-related-traits
#17
Thorunn Rafnar, Bjarni Gunnarsson, Olafur A Stefansson, Patrick Sulem, Andres Ingason, Michael L Frigge, Lilja Stefansdottir, Jon K Sigurdsson, Vinicius Tragante, Valgerdur Steinthorsdottir, Unnur Styrkarsdottir, Simon N Stacey, Julius Gudmundsson, Gudny A Arnadottir, Asmundur Oddsson, Florian Zink, Gisli Halldorsson, Gardar Sveinbjornsson, Ragnar P Kristjansson, Olafur B Davidsson, Anna Salvarsdottir, Asgeir Thoroddsen, Elisabet A Helgadottir, Katrin Kristjansdottir, Orri Ingthorsson, Valur Gudmundsson, Reynir T Geirsson, Ragnheidur Arnadottir, Daniel F Gudbjartsson, Gisli Masson, Folkert W Asselbergs, Jon G Jonasson, Karl Olafsson, Unnur Thorsteinsdottir, Bjarni V Halldorsson, Gudmar Thorleifsson, Kari Stefansson
Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-analysis of two genome-wide association studies of leiomyoma in European women (16,595 cases and 523,330 controls), uncovering 21 variants at 16 loci that associate with the disease. Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36...
September 7, 2018: Nature Communications
https://www.readbyqxmd.com/read/30188763/suppression-of-wnt-%C3%AE-catenin-signaling-by-egf-receptor-is-required-for-hair-follicle-development
#18
Swamy K Tripurani, Yan Wang, Ying-Xin Fan, Massod Rahimi, Lily Wong, Min-Hyung Lee, Matthew F Starost, Jeffrey S Rubin, Gibbes R Johnson
Mice that lack the epidermal growth factor receptor (EGFR) fail to develop a hair coat, but the mechanism responsible for this deficit is not completely understood. Here, we show that EGFR plays a critical role to attenuate wingless-type MMTV integration site family member (Wnt)/β-catenin signaling during postnatal hair follicle development. Genetic ablation of EGFR in mice resulted in increased mitotic activity in matrix cells, apoptosis in hair follicles, and impaired differentiation of epithelial lineages that form hair...
November 1, 2018: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/30136190/hgf-promotes-htr-8-svneo-cell-migration-through-activation-of-mapk-pka-signaling-leading-to-up-regulation-of-wnt-ligands-and-integrins-that-target-%C3%AE-catenin
#19
Piyush Chaudhary, Sudha Saryu Malhotra, Gosipatala Sunil Babu, Ranbir Chander Sobti, Satish Kumar Gupta
Inadequate migration and invasion of the trophoblast cells during embryo implantation is one of the reasons for pregnancy-related complications such as intrauterine growth restriction and preeclampsia. In the present study, relevance of WNT ligands and integrins associated with hepatocyte growth factor (HGF)-mediated migration of HTR-8/SVneo trophoblastic cells has been investigated. Treatment of HTR-8/SVneo cells with HGF led to a dose-dependent increase in their migration. RT-PCR studies revealed a significant increase in the transcripts of WNT4, WNT11, ITGA2, and ITGAV, which was further confirmed at protein level by Western blotting...
August 22, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/30076550/effect-of-tetramethyl-thiuram-disulfide-thiram-in-relation-to-tibial-dyschondroplasia-in-chickens
#20
Hui Zhang, Khalid Mehmood, Xiong Jiang, Wangyuan Yao, Mujahid Iqbal, Muhammad Waqas, Mujeeb Ur Rehman, Aoyun Li, Yaoqin Shen, Jiakui Li
Tetramethyl thiuram disulfide (thiram) is one of the important pesticides, which is extensively used in agriculture, but if it is combined with the cell membrane, then it causes membrane damage, bone morphogenic inactivation, and inhibited angiogenesis. Thiram has been considered a common cause of tibial dyschondrolplasia (TD) in various avian species, because it becomes the part of feed due to environmental contamination and its overuse in agriculture as pesticides or fungicide. However, there is no systematic study on the changes of the correlation indexes with toxic effect of the thiram in chickens...
October 2018: Environmental Science and Pollution Research International
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