Search

Your search keyword '"Hupalowska, Anna"' showing total 29 results
Start Over Author "Hupalowska, Anna"
29 results on '"Hupalowska, Anna"'

1. A Roadmap for the Human Gut Cell Atlas

Author

Zilbauer, Matthias, James, Kylie R., Kaur, Mandeep, Pott, Sebastian, Li, Zhixin, Burger, Albert, Thiagarajah, Jay R., Burclaff, Joseph, Jahnsen, Frode L., Perrone, Francesca, Ross, Alexander D., Matteoli, Gianluca, Stakenborg, Nathalie, Sujino, Tomohisa, Moor, Andreas, Bartolome-Casado, Raquel, Bækkevold, Espen S., Zhou, Ran, Xie, Bingqing, Lau, Ken S., Din, Shahida, Magness, Scott T., Yao, Qiuming, Beyaz, Semir, Arends, Mark, Denadai-Souza, Alexandre, Coburn, Lori A., Gaublomme, Jellert T., Baldock, Richard, Papatheodorou, Irene, Ordovas-Montanes, Jose, Boeckxstaens, Guy, Hupalowska, Anna, Teichmann, Sarah A., Regev, Aviv, Xavier, Ramnik J., Simmons, Alison, Snyder, Michael P., and Wilson, Keith T.

Published
2023
Full Text
View/download PDF

4. Mapping the Human Body at Cellular Resolution -- The NIH Common Fund Human BioMolecular Atlas Program

Author

Snyder, Michael P, Lin, Shin, Posgai, Amanda, Atkinson, Mark, Regev, Aviv, Rood, Jennifer, Rosen, Orit, Gaffney, Leslie, Hupalowska, Anna, Satija, Rahul, Gehlenborg, Nils, Shendure, Jay, Laskin, Julia, Harbury, Pehr, Nystrom, Nicholas A, Bar-Joseph, Ziv, Zhang, Kun, Börner, Katy, Lin, Yiing, Conroy, Richard, Procaccini, Dena, Roy, Ananda L, Pillai, Ajay, Brown, Marishka, and Galis, Zorina S

Subjects
Quantitative Biology - Other Quantitative Biology
Abstract

Transformative technologies are enabling the construction of three dimensional (3D) maps of tissues with unprecedented spatial and molecular resolution. Over the next seven years, the NIH Common Fund Human Biomolecular Atlas Program (HuBMAP) intends to develop a widely accessible framework for comprehensively mapping the human body at single-cell resolution by supporting technology development, data acquisition, and detailed spatial mapping. HuBMAP will integrate its efforts with other funding agencies, programs, consortia, and the biomedical research community at large towards the shared vision of a comprehensive, accessible 3D molecular and cellular atlas of the human body, in health and various disease settings., Comment: 20 pages, 3 figures

Published
2019
Full Text
View/download PDF

5. The Human Tumor Atlas Network: Charting Tumor Transitions across Space and Time at Single-Cell Resolution.

Author

Rozenblatt-Rosen, Orit, Regev, Aviv, Oberdoerffer, Philipp, Nawy, Tal, Hupalowska, Anna, Rood, Jennifer E, Ashenberg, Orr, Cerami, Ethan, Coffey, Robert J, Demir, Emek, Ding, Li, Esplin, Edward D, Ford, James M, Goecks, Jeremy, Ghosh, Sharmistha, Gray, Joe W, Guinney, Justin, Hanlon, Sean E, Hughes, Shannon K, Hwang, E Shelley, Iacobuzio-Donahue, Christine A, Jané-Valbuena, Judit, Johnson, Bruce E, Lau, Ken S, Lively, Tracy, Mazzilli, Sarah A, Pe'er, Dana, Santagata, Sandro, Shalek, Alex K, Schapiro, Denis, Snyder, Michael P, Sorger, Peter K, Spira, Avrum E, Srivastava, Sudhir, Tan, Kai, West, Robert B, Williams, Elizabeth H, and Human Tumor Atlas Network

Subjects
Human Tumor Atlas Network, Humans, Neoplasms, Cell Transformation, Neoplastic, Genomics, Atlases as Topic, Single-Cell Analysis, Tumor Microenvironment, Precision Medicine, AI, Cancer Moonshot, Human Tumor Atlas, cancer transitions, data integration, data visualization, metastasis, pre-cancer, resistance, single-cell genomics, spatial genomics, spatial imaging, tumor, Human Genome, Clinical Research, Genetics, Cancer, Bioengineering, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Crucial transitions in cancer-including tumor initiation, local expansion, metastasis, and therapeutic resistance-involve complex interactions between cells within the dynamic tumor ecosystem. Transformative single-cell genomics technologies and spatial multiplex in situ methods now provide an opportunity to interrogate this complexity at unprecedented resolution. The Human Tumor Atlas Network (HTAN), part of the National Cancer Institute (NCI) Cancer Moonshot Initiative, will establish a clinical, experimental, computational, and organizational framework to generate informative and accessible three-dimensional atlases of cancer transitions for a diverse set of tumor types. This effort complements both ongoing efforts to map healthy organs and previous large-scale cancer genomics approaches focused on bulk sequencing at a single point in time. Generating single-cell, multiparametric, longitudinal atlases and integrating them with clinical outcomes should help identify novel predictive biomarkers and features as well as therapeutically relevant cell types, cell states, and cellular interactions across transitions. The resulting tumor atlases should have a profound impact on our understanding of cancer biology and have the potential to improve cancer detection, prevention, and therapeutic discovery for better precision-medicine treatments of cancer patients and those at risk for cancer.

Published
2020

6. The human body at cellular resolution: the NIH Human Biomolecular Atlas Program

Author

Snyder, Michael P, Lin, Shin, Posgai, Amanda, Atkinson, Mark, Regev, Aviv, Rood, Jennifer, Rozenblatt-Rosen, Orit, Gaffney, Leslie, Hupalowska, Anna, Satija, Rahul, Gehlenborg, Nils, Shendure, Jay, Laskin, Julia, Harbury, Pehr, Nystrom, Nicholas A, Silverstein, Jonathan C, Bar-Joseph, Ziv, Zhang, Kun, Börner, Katy, Lin, Yiing, Conroy, Richard, Procaccini, Dena, Roy, Ananda L, Pillai, Ajay, Brown, Marishka, Galis, Zorina S, Cai, Long, Trapnell, Cole, Jackson, Dana, Nolan, Garry, Greenleaf, William James, Plevritis, Sylvia, Ahadi, Sara, Nevins, Stephanie A, Lee, Hayan, Schuerch, Christian Martijn, Black, Sarah, Venkataraaman, Vishal Gautham, Esplin, Ed, Horning, Aaron, Bahmani, Amir, Sun, Xin, Jain, Sanjay, Hagood, James, Pryhuber, Gloria, Kharchenko, Peter, Bodenmiller, Bernd, Brusko, Todd, Clare-Salzler, Michael, Nick, Harry, Otto, Kevin, Wasserfall, Clive, Jorgensen, Marda, Brusko, Maigan, Maffioletti, Sergio, Caprioli, Richard M, Spraggins, Jeffrey M, Gutierrez, Danielle, Patterson, Nathan Heath, Neumann, Elizabeth K, Harris, Raymond, deCaestecker, Mark, Fogo, Agnes B, van de Plas, Raf, Lau, Ken, Yuan, Guo-Cheng, Zhu, Qian, Dries, Ruben, Yin, Peng, Saka, Sinem K, Kishi, Jocelyn Y, Wang, Yu, Goldaracena, Isabel, Ye, DongHye, Burnum-Johnson, Kristin E, Piehowski, Paul D, Ansong, Charles, Zhu, Ying, Desai, Tushar, Mulye, Jay, Chou, Peter, Nagendran, Monica, Teichmann, Sarah A, Paten, Benedict, Murphy, Robert F, Ma, Jian, Kiselev, Vladimir Yu, Kingsford, Carl, and Ricarte, Allyson

Subjects
Human Genome, Genetics, Networking and Information Technology R&D, Bioengineering, Aging, Atlases as Topic, Biomedical Research, Female, Health, Humans, International Cooperation, Male, Models, Anatomic, Molecular Biology, National Institutes of Health (U.S.), Organ Specificity, Single-Cell Analysis, United States, q-bio.OT, General Science & Technology
Abstract

Transformative technologies are enabling the construction of threedimensional (3D) maps of tissues with unprecedented spatial and molecularresolution. Over the next seven years, the NIH Common Fund Human BiomolecularAtlas Program (HuBMAP) intends to develop a widely accessible framework forcomprehensively mapping the human body at single-cell resolution by supportingtechnology development, data acquisition, and detailed spatial mapping. HuBMAPwill integrate its efforts with other funding agencies, programs, consortia,and the biomedical research community at large towards the shared vision of acomprehensive, accessible 3D molecular and cellular atlas of the human body, inhealth and various disease settings.

Published
2019

9. Human Developmental Cell Atlas: milestones achieved and the roadmap ahead

Author

Haniffa, Muzlifah, primary, Taylor, Deanne, additional, Linnarsson, Sten, additional, Aronow, Bruce, additional, Bader, Gary, additional, Camara, Pablo, additional, Camp, J. Gray, additional, Chédotal, Alain, additional, Copp, Andrew, additional, Etchevers, Heather, additional, Giacobini, Paolo, additional, Gottgens, Berthold, additional, Guo, Guoji, additional, Hupalowska, Anna, additional, James, Kylie, additional, Kirby, Emily, additional, Kriegstein, Arnold, additional, Lundeberg, Joakim, additional, Marioni, John, additional, Meyer, Kerstin, additional, Niakan, Kathy, additional, Nilsson, Mats, additional, Olabi, Bayanne, additional, Pe'er, Dana, additional, Regev, Aviv, additional, Rood, Jennifer, additional, Rozenblatt-Rosen, Orit, additional, Satija, Rahul, additional, Teichmann, Sarah, additional, Treutlein, Barbara, additional, Vento-Tormo, Roser, additional, and Webb, Simone, additional

Published
2020
Full Text
View/download PDF

10. Toward a Common Coordinate Framework for the Human Body

Author

Rood, Jennifer E., primary, Stuart, Tim, additional, Ghazanfar, Shila, additional, Biancalani, Tommaso, additional, Fisher, Eyal, additional, Butler, Andrew, additional, Hupalowska, Anna, additional, Gaffney, Leslie, additional, Mauck, William, additional, Eraslan, Gökçen, additional, Marioni, John C., additional, Regev, Aviv, additional, and Satija, Rahul, additional

Published
2019
Full Text
View/download PDF

11. Toward a Common Coordinate Framework for the Human Body

Author

Rood, Jennifer E, Stuart, Tim, Ghazanfar, Shila, Biancalani, Tommaso, Fisher, Eyal, Butler, Andrew, Hupalowska, Anna, Gaffney, Leslie, Mauck, William, Eraslan, Gökçen, Marioni, John C, Regev, Aviv, Satija, Rahul, Marioni, John [0000-0001-9092-0852], and Apollo - University of Cambridge Repository

Subjects
Diagnostic Imaging, Anatomic Variation, Humans, Reference Standards, Physical Examination
Abstract

Understanding the genetic and molecular drivers of phenotypic heterogeneity across individuals is central to biology. As new technologies enable fine-grained and spatially resolved molecular profiling, we need new computational approaches to integrate data from the same organ across different individuals into a consistent reference and to construct maps of molecular and cellular organization at histological and anatomical scales. Here, we review previous efforts and discuss challenges involved in establishing such a common coordinate framework, the underlying map of tissues and organs. We focus on strategies to handle anatomical variation across individuals and highlight the need for new technologies and analytical methods spanning multiple hierarchical scales of spatial resolution.

Published
2019
Full Text
View/download PDF

12. The human body at cellular resolution: the NIH Human Biomolecular Atlas Program

Author

Lin, Shin, Posgai, Amanda, Atkinson, Mark, Regev, Aviv, Rood, Jennifer, Rozenblatt-Rosen, Orit, Gaffney, Leslie, Hupalowska, Anna, Satija, Rahul, Gehlenborg, Nils, Shendure, Jay, Laskin, Julia, Harbury, Pehr, Nystrom, Nicholas A., Silverstein, Jonathan C., Bar-Joseph, Ziv, Zhang, Kun, Börner, Katy, Lin, Yiing, Conroy, Richard, Procaccini, Dena, Roy, Ananda L., Pillai, Ajay, Brown, Marishka, Galis, Zorina S., Cai, Long, Trapnell, Cole, Jackson, Dana, Snyder, Michael P., Nolan, Garry, Greenleaf, William James, Plevritis, Sylvia, Ahadi, Sara, Nevins, Stephanie A., Lee, Hayan, Schuerch, Christian Martijn, Black, Sarah, Venkataraaman, Vishal Gautham, Esplin, Ed, Horning, Aaron, Bahmani, Amir, Sun, Xin, Jain, Sanjay, Hagood, James, Pryhuber, Gloria, Kharchenko, Peter, Bodenmiller, Bernd, Brusko, Todd, Clare-Salzler, Michael, Nick, Harry, Otto, Kevin, Wasserfall, Clive, Jorgensen, Marda, Brusko, Maigan, Maffioletti, Sergio, Caprioli, Richard M., Spraggins, Jeffrey M., Gutierrez, Danielle, Patterson, Nathan Heath, Neumann, Elizabeth K., Harris, Raymond, deCaestecker, Mark, Fogo, Agnes B., van de Plas, Raf, Lau, Ken, Yuan, Guo-Cheng, Zhu, Qian, Dries, Ruben, Yin, Peng, Saka, Sinem K., Kishi, Jocelyn Y., Wang, Yu, Goldaracena, Isabel, Ye, DongHye, Burnum-Johnson, Kristin E., Piehowski, Paul D., Ansong, Charles, Zhu, Ying, Desai, Tushar, Mulye, Jay, Chou, Peter, Nagendran, Monica, Teichmann, Sarah A., Paten, Benedict, Murphy, Robert F., Ma, Jian, Kiselev, Vladimir Yu., Kingsford, Carl, Ricarte, Allyson, Keays, Maria, Akoju, Sushma A., Ruffalo, Matthew, Vella, Margaret, McCallum, Chuck, Cross, Leonard E., Friedman, Samuel H., Heiland, Randy, Herr, Bruce, Macklin, Paul, Quardokus, Ellen M., Record, Lisel, Sluka, James P., Weber, Griffin M., Blood, Philip D., Ropelewski, Alexander J., Shirey, William E., Scibek, Robin M., Mabee, Paula, Lenhardt, W. Christopher, Robasky, Kimberly, Michailidis, Stavros, Marioni, John, Butler, Andrew, Stuart, Tim, Fisher, Eyal, Ghazanfar, Shila, Eraslan, Gokcen, Biancalani, Tommaso, Vaishnav, Eeshit D., Roy, Ananda, Galis, Zorina, Srinivas, Pothur, Pawlyk, Aaron, Sechi, Salvatore, Wilder, Elizabeth, Anderson, James, and Apollo - University of Cambridge Repository

Subjects
45/91, 82/80, 45, 631/114/2398, Perspective, 631/208/212, 45/23, 38/39
Abstract

Transformative technologies are enabling the construction of three-dimensional maps of tissues with unprecedented spatial and molecular resolution. Over the next seven years, the NIH Common Fund Human Biomolecular Atlas Program (HuBMAP) intends to develop a widely accessible framework for comprehensively mapping the human body at single-cell resolution by supporting technology development, data acquisition, and detailed spatial mapping. HuBMAP will integrate its efforts with other funding agencies, programs, consortia, and the biomedical research community at large towards the shared vision of a comprehensive, accessible three-dimensional molecular and cellular atlas of the human body, in health and under various disease conditions.

Published
2019

13. Heterogeneity in Oct4 and Sox2 Targets Biases Cell Fate in 4-Cell Mouse Embryos

Author

Goolam, Mubeen, Scialdone, Antonio, Graham, Sarah J.L., Macaulay, Iain C., Jedrusik, Agnieszka, Hupalowska, Anna, Voet, Thierry, Marioni, John C., Zernicka-Goetz, Magdalena, Marioni, John [0000-0001-9092-0852], Zernicka-Goetz, Magdalena [0000-0002-7004-2471], and Apollo - University of Cambridge Repository

Subjects
Homeodomain Proteins, Pluripotent Stem Cells, Biochemistry, Genetics and Molecular Biology(all), Gene Expression Profiling, SOXB1 Transcription Factors, Gene Expression Regulation, Developmental, Embryo, Mammalian, Article, Epigenesis, Genetic, CARD Signaling Adaptor Proteins, Mice, Blastocyst, SOXB2 Transcription Factors, Animals, CDX2 Transcription Factor, Gene Regulatory Networks, Single-Cell Analysis, Octamer Transcription Factor-3, Transcription Factors
Abstract

Summary The major and essential objective of pre-implantation development is to establish embryonic and extra-embryonic cell fates. To address when and how this fundamental process is initiated in mammals, we characterize transcriptomes of all individual cells throughout mouse pre-implantation development. This identifies targets of master pluripotency regulators Oct4 and Sox2 as being highly heterogeneously expressed between blastomeres of the 4-cell embryo, with Sox21 showing one of the most heterogeneous expression profiles. Live-cell tracking demonstrates that cells with decreased Sox21 yield more extra-embryonic than pluripotent progeny. Consistently, decreasing Sox21 results in premature upregulation of the differentiation regulator Cdx2, suggesting that Sox21 helps safeguard pluripotency. Furthermore, Sox21 is elevated following increased expression of the histone H3R26-methylase CARM1 and is lowered following CARM1 inhibition, indicating the importance of epigenetic regulation. Therefore, our results indicate that heterogeneous gene expression, as early as the 4-cell stage, initiates cell-fate decisions by modulating the balance of pluripotency and differentiation., Graphical Abstract, Highlights • Oct4 and Sox2 targets such as Sox21 are highly heterogeneous in the 4-cell embryo • Depleting Sox21 levels leads to upregulation of Cdx2 and extra-embryonic fate • Sox21 expression responds to the histone H3R26 methyltransferase CARM1 • Heterogeneous gene expression initiates cell-fate decisions at the 4-cell stage, Heterogeneous gene expression in 4-cell stage in mouse embryos contributes to cell-fate decisions, with lower levels of Sox21 promoting extra-embryonic fate over pluripotency.

Published
2016

15. Building a high-quality Human Cell Atlas.

Author

Rozenblatt-Rosen, Orit, Shin, Jay W., Rood, Jennifer E., Hupalowska, Anna, Human Cell Atlas Standards and Technology Working Group, Ardlie, Kristin, Clatworthy, Menna, Carninci, Piero, Enard, Wolfgang, Greenleaf, William, Heyn, Holger, Lein, Edward, Levin, Joshua Z., Linnarsson, Sten, Lundberg, Emma, Meyer, Kerstin, Navin, Nicholas, Nolan, Garry, Teichmann, Sarah, and Voet, Thierry

Published
2021
Full Text
View/download PDF

16. Self-Organization of the Human Embryo in the Absence of Maternal Tissues

Author

Shahbazi, Marta N., primary, Jedrusik, Agnieszka, additional, Vuoristo, Sanna, additional, Recher, Gaelle, additional, Hupalowska, Anna, additional, Bolton, Virginia, additional, Fogarty, Norah M. E., additional, Campbell, Alison, additional, Devito, Liani G., additional, Ilic, Dusko, additional, Khalaf, Yakoub, additional, Niakan, Kathy K., additional, Fishel, Simon, additional, and Zernicka-Goetz, Magdalena, additional

Published
2016
Full Text
View/download PDF

17. The human body at cellular resolution: the NIH Human Biomolecular Atlas Program.

Author

HuBMAP Consortium, Writing Group, Snyder, Michael P., Lin, Shin, Posgai, Amanda, Atkinson, Mark, Regev, Aviv, Rood, Jennifer, Rozenblatt-Rosen, Orit, Gaffney, Leslie, Hupalowska, Anna, Satija, Rahul, Gehlenborg, Nils, Shendure, Jay, Laskin, Julia, Harbury, Pehr, Nystrom, Nicholas A., Silverstein, Jonathan C., Bar-Joseph, Ziv, and Zhang, Kun

Abstract

Transformative technologies are enabling the construction of three-dimensional maps of tissues with unprecedented spatial and molecular resolution. Over the next seven years, the NIH Common Fund Human Biomolecular Atlas Program (HuBMAP) intends to develop a widely accessible framework for comprehensively mapping the human body at single-cell resolution by supporting technology development, data acquisition, and detailed spatial mapping. HuBMAP will integrate its efforts with other funding agencies, programs, consortia, and the biomedical research community at large towards the shared vision of a comprehensive, accessible three-dimensional molecular and cellular atlas of the human body, in health and under various disease conditions. HuBMAP supports technology development, data acquisition, and spatial analyses to generate comprehensive molecular and cellular three-dimensional tissue maps. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

20. Erratum: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Author

Kolanczyk, Mateusz, primary, Krawitz, Peter, additional, Hecht, Jochen, additional, Hupalowska, Anna, additional, Miaczynska, Marta, additional, Marschner, Katrin, additional, Schlack, Claire, additional, Emmerich, Denise, additional, Kobus, Karolina, additional, Kornak, Uwe, additional, Robinson, Peter N, additional, Plecko, Barbara, additional, Grangl, Gernot, additional, Uhrig, Sabine, additional, Mundlos, Stefan, additional, and Horn, Denise, additional

Published
2015
Full Text
View/download PDF

21. Metaphase I arrest in LT/Sv mouse oocytes involves the spindle assembly checkpoint

Author

Hupalowska, Anna, Kalaszczynska, Ilona, Hoffmann, Steffen, Tsurumi, Chizuko, Kubiak, Jacek, Polanski, Zbigniew, Ciemerych, Maria, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)

Subjects
MESH: Adenine, Chromosomal Proteins, Non-Histone, MESH: Chromosome Segregation, Fluorescent Antibody Technique, Antineoplastic Agents, Cell Cycle Proteins, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Spindle Apparatus, MESH: Anaphase, Microtubules, MESH: Nocodazole, Chromosomes, MESH: Oocytes, Mice, MESH: Cell Cycle Proteins, MESH: Mice, Inbred C57BL, MESH: RNA, MESH: Chromosomal Proteins, Non-Histone, Chromosome Segregation, Animals, MESH: Animals, MESH: Metaphase, MESH: Fluorescent Antibody Technique, MESH: Mice, Calcimycin, Metaphase, MESH: Mitotic Spindle Apparatus, MESH: Calcimycin, MESH: Mice, Inbred CBA, MESH: Microtubules, Adenine, Nocodazole, Mice, Inbred C57BL, MESH: Meiosis, Meiosis, Mice, Inbred CBA, Oocytes, MESH: Antineoplastic Agents, RNA, MESH: Chromosomes, Female, Anaphase, MESH: Female
Abstract

International audience; During meiotic maturation, the majority of oocytes from LT/Sv mice arrest at metaphase I. However, anaphase may be induced through parthenogenetic activation. If this happens within the ovary, it often results in the development of ovarian teratomas. Here, we show that the induction of first meiotic anaphase in LT/Sv oocytes results in incorrect chromosome segregation. In search of the molecular basis of this complex phenotype, we analyzed the localization/destruction of cohesins, as well as the function of the components of the spindle assembly checkpoint (SAC). Both localization and removal of meiotic cohesin REC8 from chromosomes are unperturbed. In contrast, there is prolonged localization of SAC proteins BUB1 and MAD2L1 (MAD2) at the metaphase I kinetochores in mutant oocytes compared with the wild-type. Interfering with BUB1 function through expression of a dominant-negative mutant protein resulted in the increase of the number of LT/Sv oocytes completing the first meiosis, which indicates SAC involvement in metaphase I arrest. These data show for the first time that there is a direct link between the SAC function and the heritable meiotic incompetence of a mammalian oocyte.

Published
2008

22. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Author

Kolanczyk, Mateusz, primary, Krawitz, Peter, additional, Hecht, Jochen, additional, Hupalowska, Anna, additional, Miaczynska, Marta, additional, Marschner, Katrin, additional, Schlack, Claire, additional, Emmerich, Denise, additional, Kobus, Karolina, additional, Kornak, Uwe, additional, Robinson, Peter N, additional, Plecko, Barbara, additional, Grangl, Gernot, additional, Uhrig, Sabine, additional, Mundlos, Stefan, additional, and Horn, Denise, additional

Published
2014
Full Text
View/download PDF

26. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Author

Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, Barbara, Grangl, Gernot, Uhrig, Sabine, Mundlos, Stefan, and Horn, Denise

Subjects
X-linked intellectual disabilities, BRAIN abnormalities, CONGENITAL heart disease, CRANIOFACIAL abnormalities, DEVELOPMENTAL delay, HUMAN genetic variation, GENETICS
Abstract

Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. A recent study of a Canadian cohort identified homozygous sequence variants in the KIAA0196 gene, which encodes the WASH complex subunit strumpellin, as a cause for a form of RSS/3C syndrome. We have searched for genetic causes of a phenotype similar to RSS/3C syndrome in an Austrian family with two affected sons. To search for disease-causing variants, whole-exome sequencing (WES) was performed on samples from two affected male children and their parents. Before WES, CGH array comparative genomic hybridization was applied. Validation of WES and segregation studies was done using routine Sanger sequencing. Exome sequencing detected a missense variant (c.1670A>G; p.(Tyr557Cys)) in exon 15 of the CCDC22 gene, which maps to chromosome Xp11.23. Western blots of immortalized lymphoblastoid cell lines (LCLs) from the affected individual showed decreased expression of CCDC22 and an increased expression of WASH1 but a normal expression of strumpellin and FAM21 in the patients cells. We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here. A hypomorphic variant in CCDC22 was previously reported in association with a familial case of syndromic X-linked intellectual disability, which shows phenotypic overlap with RSS/3C syndrome. Thus, different inactivating variants affecting CCDC22 are associated with a phenotype similar to RSS/3C syndrome. [ABSTRACT FROM AUTHOR]

Published
2015
Full Text
View/download PDF

28. Self-organization of the human embryo in the absence of maternal tissues

Author

Shahbazi, Marta N., Jedrusik, Agnieszka, Vuoristo, Sanna, Recher, Gaelle, Hupalowska, Anna, Bolton, Virginia, Fogarty, Norah M. E., Campbell, Alison, Devito, Liani G., Ilic, Dusko, Khalaf, Yakoub, Niakan, Kathy K., Fishel, Simon, and Zernicka-Goetz, Magdalena

Abstract

Remodelling of the human embryo at implantation is indispensable for successful pregnancy. Yet it has remained mysterious because of the experimental hurdles that beset the study of this developmental phase. Here, we establish an in vitro system to culture human embryos through implantation stages in the absence of maternal tissues and reveal the key events of early human morphogenesis. These include segregation of the pluripotent embryonic and extra-embryonic lineages, and morphogenetic rearrangements leading to generation of a bilaminar disc, formation of a pro-amniotic cavity within the embryonic lineage, appearance of the prospective yolk sac, and trophoblast differentiation. Using human embryos and human pluripotent stem cells, we show that the reorganization of the embryonic lineage is mediated by cellular polarization leading to cavity formation. Together, our results indicate that the critical remodelling events at this stage of human development are embryo-autonomous, highlighting the remarkable and unanticipated self-organizing properties of human embryos.

Published
2016
Full Text
View/download PDF

29. The human body at cellular resolution: the NIH Human Biomolecular Atlas Program

Author

Lin, Shin, Posgai, Amanda, Atkinson, Mark, Regev, Aviv, Rood, Jennifer, Rozenblatt-Rosen, Orit, Gaffney, Leslie, Hupalowska, Anna, Satija, Rahul, Gehlenborg, Nils, Shendure, Jay, Laskin, Julia, Harbury, Pehr, Nystrom, Nicholas A., Silverstein, Jonathan C., Bar-Joseph, Ziv, Zhang, Kun, Börner, Katy, Lin, Yiing, Conroy, Richard, Procaccini, Dena, Roy, Ananda L., Pillai, Ajay, Brown, Marishka, Galis, Zorina S., Cai, Long, Trapnell, Cole, Jackson, Dana, Snyder, Michael P., Nolan, Garry, Greenleaf, William James, Plevritis, Sylvia, Ahadi, Sara, Nevins, Stephanie A., Lee, Hayan, Schuerch, Christian Martijn, Black, Sarah, Venkataraaman, Vishal Gautham, Esplin, Ed, Horning, Aaron, Bahmani, Amir, Sun, Xin, Jain, Sanjay, Hagood, James, Pryhuber, Gloria, Kharchenko, Peter, Bodenmiller, Bernd, Brusko, Todd, Clare-Salzler, Michael, Nick, Harry, Otto, Kevin, Wasserfall, Clive, Jorgensen, Marda, Brusko, Maigan, Maffioletti, Sergio, Caprioli, Richard M., Spraggins, Jeffrey M., Gutierrez, Danielle, Patterson, Nathan Heath, Neumann, Elizabeth K., Harris, Raymond, DeCaestecker, Mark, Fogo, Agnes B., Van De Plas, Raf, Lau, Ken, Yuan, Guo-Cheng, Zhu, Qian, Dries, Ruben, Yin, Peng, Saka, Sinem K., Kishi, Jocelyn Y., Wang, Yu, Goldaracena, Isabel, Ye, DongHye, Burnum-Johnson, Kristin E., Piehowski, Paul D., Ansong, Charles, Zhu, Ying, Desai, Tushar, Mulye, Jay, Chou, Peter, Nagendran, Monica, Teichmann, Sarah A., Paten, Benedict, Murphy, Robert F., Ma, Jian, Kiselev, Vladimir Yu., Kingsford, Carl, Ricarte, Allyson, Keays, Maria, Akoju, Sushma A., Ruffalo, Matthew, Vella, Margaret, McCallum, Chuck, Cross, Leonard E., Friedman, Samuel H., Heiland, Randy, Herr, Bruce, Macklin, Paul, Quardokus, Ellen M., Record, Lisel, Sluka, James P., Weber, Griffin M., Blood, Philip D., Ropelewski, Alexander J., Shirey, William E., Scibek, Robin M., Mabee, Paula, Lenhardt, W. Christopher, Robasky, Kimberly, Michailidis, Stavros, Marioni, John, Butler, Andrew, Stuart, Tim, Fisher, Eyal, Ghazanfar, Shila, Eraslan, Gokcen, Biancalani, Tommaso, Vaishnav, Eeshit D., Roy, Ananda, Galis, Zorina, Srinivas, Pothur, Pawlyk, Aaron, Sechi, Salvatore, Wilder, Elizabeth, and Anderson, James

Subjects
45/91, 82/80, 45, 631/114/2398, Perspective, 631/208/212, 45/23, 38/39, 3. Good health
Abstract

Transformative technologies are enabling the construction of three-dimensional maps of tissues with unprecedented spatial and molecular resolution. Over the next seven years, the NIH Common Fund Human Biomolecular Atlas Program (HuBMAP) intends to develop a widely accessible framework for comprehensively mapping the human body at single-cell resolution by supporting technology development, data acquisition, and detailed spatial mapping. HuBMAP will integrate its efforts with other funding agencies, programs, consortia, and the biomedical research community at large towards the shared vision of a comprehensive, accessible three-dimensional molecular and cellular atlas of the human body, in health and under various disease conditions.

Catalog

Books, media, physical & digital resources
See catalog results