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Found 34611 matches. Displaying 131-140
Gleicher N, Barad DH
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Assessing in-vitro fertilisation at age 40 years

LANCET 2019 MAR 23; 393(10177):1181-1183
Esterhazy D, Mucida D
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A metabolic role for gut immune cells

NATURE 2019 FEB 7; 566(7742):49-50
[No abstract available] Gut immune cells have a role in food metabolism.The gut is an active site of immune defence against disease-causing microbes. A study in mice shows that a type of immune cell in the gut's wall also helps to regulate sugar and fat metabolism...
Luo ZW, Li M, Wu YX, Meng ZF, Martin L, Zhang LM, Ogunrinde E, Zhou ZJ, Qin SH, Wan Z, Westerink MAJ, Warth S, Liu H, Jin P, Stroncek D, Li QZ, Wang E, Wu XL, Heath S, Li ZH, Alekseyenko AV, Jiang W
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Systemic translocation of Staphylococcus drives autoantibody production in HIV disease

MICROBIOME 2019 FEB 14; 7(?):? Article 25
Increased autoreactive antibodies have been reported in HIV disease; however, the mechanism accounting for autoantibody induction in HIV remains unknown. Herein, we show that seasonal influenza vaccination induces autoantibody production (e.g., IgG anti-nuclear antibody (ANA) and anti-double-stranded DNA antibody (anti-dsDNA)) in some viral-suppressed antiretroviral therapy (ART)-treated HIV+ subjects, but not in healthy controls. These autoantibodies were not derived from antigen-specific B cells but from activated "bystander" B cells analyzed by single-cell assay and by study of purified polyclonal ANAs from plasma. To explore the mechanism of autoantibody generation in HIV+ subjects, plasma level of microbial products, gene expression profile of B cells, and B cell receptor (BCR) repertoires were analyzed. We found that autoantibody production was associated with increased plasma level of microbial translocation; the patients with high autoantibodies had skewed B cell repertoires and upregulation of genes related to innate immune activation in response to microbial translocation. By analyzing circulating microbial 16S rDNA in plasma, the relative abundance of Staphylococcus was found to be associated with autoantibody production in HIV+ subjects. Finally, we found that injection of heat-killed Staphylococcus aureus promoted germinal center B cell responses and autoantibody production in mice, consistent with the notion that autoantibody production in HIV+ patients is triggered by microbial products. Our results showed that translocation of Staphylococcus can promote B cell activation through enhancing germinal center response and induces autoantibody production. It uncovers a potential mechanism linking microbial translocation and autoimmunity in HIV+ disease and provides a strong rationale for targeting Staphylococcus to prevent autoantibody production.
Oleaga-Quintas C, Deswarte C, Moncada-Velez M, Metin A, Rao IK, Kanik-Yuksek S, Nieto-Patlan A, Guerin A, Gulhan B, Murthy S, Ozkaya-Parlakay A, Abel L, Martinez-Barricarte R, de Diego RP, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J
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A purely quantitative form of partial recessive IFN-gamma R2 deficiency caused by mutations of the initiation or second codon (vol 27, pg 3919, 2018)

HUMAN MOLECULAR GENETICS 2019 FEB 1; 28(3):524-524
Bonvin E, Radaelli E, Bizet M, Luciani F, Calonne E, Putmans P, Nittner D, Singh NK, Santagostino SF, Petit V, Larue L, Marine JC, Fuks F
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TET2-Dependent Hydroxymethylome Plasticity Reduces Melanoma Initiation and Progression

CANCER RESEARCH 2019 FEB 1; 79(3):482-494
Although numerous epigenetic aberrancies accumulate in melanoma, their contribution to initiation and progression remain unclear. The epigenetic mark 5-hydroxymethylcytosine (5hmC), generated through TET-mediated DNA modification, is now referred to as the sixth base of DNA and has recently been reported as a potential biomarker for multiple types of cancer. Loss of 5hmC is an epigenetic hallmark of melanoma, but whether a decrease in 5hmc levels contributes directly to pathogenesis or whether it merely results from disease progression-associated epigenetic remodeling remains to be established. Here, we show that NRAS-driven melanomagenesis in mice is accompanied by an overall decrease in 5hmC and specific 5hmC gains in selected gene bodies. Strikingly, genetic ablation of Tet2 in mice cooperated with oncogenic NRASQ61K to promote melanoma initiation while suppressing specific gains in 5hmC. We conclude that TET2 acts as a barrier to melanoma initiation and progression, partly by promoting 5hmC gains in specific gene bodies. Significance: This work emphasizes the importance of epigenome plasticity in cancer development and highlights the involvement of druggable epigenetic factors in cancer.
Okamato M, Gray JD, Larson CS, Kazim SF, Soya H, McEwen BS, Pereira AC
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Riluzole reduces amyloid beta pathology, improves memory, and restores gene expression changes in a transgenic mouse model of early-onset Alzheimer's disease (vol 8, 153, 2018)

TRANSLATIONAL PSYCHIATRY 2019 FEB 4; 9(?):? Article 61
Cantwell H, Nurse P
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A systematic genetic screen identifies essential factors involved in nuclear size control

PLOS GENETICS 2019 FEB; 15(2):? Article e1007929
Nuclear size correlates with cell size, but the mechanism by which this scaling is achieved is not known. Here we screen fission yeast gene deletion mutants to identify essential factors involved in this process. Our screen has identified 25 essential factors that alter nuclear size, and our analysis has implicated RNA processing and LINC complexes in nuclear size control. This study has revealed lower and more extreme higher nuclear size phenotypes and has identified global cellular processes and specific structural nuclear components important for nuclear size control. Author summary As cells grow and divide, the size of the nucleus is generally maintained as a fixed proportion of cell size. The mechanism by which this nuclear/cytoplasmic ratio is maintained is unclear. Previous studies have suggested that essential gene products may be important for nuclear size control. Therefore, we have exploited the genetic tractability of fission yeast to carry out a systematic genetic screen of deleted essential genes to identify those with aberrant nuclear size phenotypes. Our study has revealed 25 novel genes that influence nuclear size and our bioinformatic analyses have implicated both RNA processing and protein complexes connecting nuclear chromatin to the cytoskeleton in nuclear size control. Our work sheds light on the biological processes that contribute to nuclear size control in fission yeast contributing to our mechanistic understanding of nuclear scaling, a biological phenomenon that is conserved through evolution.
Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu QS, Timberlake AT, Dong WL, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang JW, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, Lopez-Giraldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT
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Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

NEURON 2019 FEB 6; 101(3):429-443.e4
Normal vascular development includes the formation and specification of arteries, veins, and intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common and severe neonatal brain arterio-venous malformations, shunting arterial blood into the brain's deep venous system through aberrant direct connections. Exome sequencing of 55 VOGM probands, including 52 parent-offspring trios, revealed enrichment of rare damaging de novo mutations in chromatin modifier genes that play essential roles in brain and vascular development. Other VOGM probands harbored rare inherited damaging mutations in Ephrin signaling genes, including a genome-wide significant mutation burden in EPHB4. Inherited mutations showed incomplete penetrance and variable expressivity, with mutation carriers often exhibiting cutaneous vascular abnormalities, suggesting a two-hit mechanism. The identified mutations collectively account for similar to 30% of studied VOGM cases. These findings provide insight into disease biology and may have clinical implications for risk assessment.
LaCava J
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RNA Binding Proteins as Regulators of Retrotransposon-Induced Exonization

BIOESSAYS 2019 FEB; 41(2):? Article 1800263
Capalbo A, Chokoshvili D, Dugoff L, Franasiak J, Gleicher N, Pennings G, Simon C
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Should the reproductive risk of a couple aiming to conceive be tested in the contemporary clinical context?

FERTILITY AND STERILITY 2019 FEB; 111(2):229-238