@article{DornelasAntaoMoyesetal.2018, author = {Dornelas, Maria and Ant{\~a}o, Laura H. and Moyes, Faye and Bates, Amanda E. and Magurran, Anne E. and Adam, Dušan and Akhmetzhanova, Asem A. and Appeltans, Ward and Arcos, Jos{\´e} Manuel and Arnold, Haley and Ayyappan, Narayanan and Badihi, Gal and Baird, Andrew H. and Barbosa, Miguel and Barreto, Tiago Egydio and B{\"a}ssler, Claus and Bellgrove, Alecia and Belmaker, Jonathan and Benedetti-Cecchi, Lisandro and Bett, Brian J. and Bjorkman, Anne D. and Błażewicz, Magdalena and Blowes, Shane A. and Bloch, Christopher P. Bloch and Bonebrake, Timothy C. and Boyd, Susan and Bradford, Matt and Brooks, Andrew J. and Brown, James H. and Bruelheide, Helge and Budy, Phaedra and Carvalho, Fernando and Casta{\~n}eda-Moya, Edward and Chen, Chaolun Allen and Chamblee, John F. and Chase, Tory J. and Siegwart Collier, Laura and Collinge, Sharon K. and Condit, Richard and Cooper, Elisabeth J. and Cornelissen, J. Hans C. and Cotano, Unai and Crow, Shannan Kyle and Damasceno, Gabriella and Davies, Claire H. and Davis, Robert A. and Day, Frank P. and Degraer, Steven and Doherty, Tim S. and Dunn, Timothy E. and Durigan, Giselda and Duffy, J. Emmett and Edelist, Dor and Edgar, Graham J. and Elahi, Robin and Elmendorf, Sarah C. and Enemar, Anders and Ernest, S. K. Morgan and Escribano, Rub{\´e}n and Estiarte, Marc and Evans, Brian S. and Fan, Tung-Yung and Turini Farah, Fabiano and Loureiro Fernandes, Luiz and Farneda, F{\´a}bio Z. and Fidelis, Alessandra and Fitt, Robert and Fosaa, Anna Maria and Franco, Geraldo Antonio Daher Correa and Frank, Grace E. and Fraser, William R. and Garc{\´i}a, Hernando and Cazzolla Gatti, Roberto and Givan, Or and Gorgone-Barbosa, Elizabeth and Gould, William A. and Gries, Corinna and Grossman, Gary D. and Gutierr{\´e}z, Julio R. and Hale, Stephen and Harmon, Mark E. and Harte, John and Haskins, Gary and Henshaw, Donald L. and Hermanutz, Luise and Hidalgo, Pamela and Higuchi, Pedro and Hoey, Andrew and Van Hoey, Gert and Hofgaard, Annika and Holeck, Kristen and Hollister, Robert D. and Holmes, Richard and Hoogenboom, Mia and Hsieh, Chih-hao and Hubbell, Stephen P. and Huettmann, Falk and Huffard, Christine L. and Hurlbert, Allen H. and Ivanauskas, Nat{\´a}lia Macedo and Jan{\´i}k, David and Jandt, Ute and Jażdżewska, Anna and Johannessen, Tore and Johnstone, Jill and Jones, Julia and Jones, Faith A. M. and Kang, Jungwon and Kartawijaya, Tasrif and Keeley, Erin C. and Kelt, Douglas A. and Kinnear, Rebecca and Klanderud, Kari and Knutsen, Halvor and Koenig, Christopher C. and Kortz, Alessandra R. and Kr{\´a}l, Kamil and Kuhnz, Linda A. and Kuo, Chao-Yang and Kushner, David J. and Laguionie-Marchais, Claire and Lancaster, Lesley T. and Lee, Cheol Min and Lefcheck, Jonathan S. and L{\´e}vesque, Esther and Lightfoot, David and Lloret, Francisco and Lloyd, John D. and L{\´o}pez-Baucells, Adri{\`a} and Louzao, Maite and Madin, Joshua S. and Magn{\´u}sson, Borgþ{\´o}r and Malamud, Shahar and Matthews, Iain and McFarland, Kent P. and McGill, Brian and McKnight, Diane and McLarney, William O. and Meador, Jason and Meserve, Peter L. and Metcalfe, Daniel J. and Meyer, Christoph F. J. and Michelsen, Anders and Milchakova, Nataliya and Moens, Tom and Moland, Even and Moore, Jon and Moreira, Carolina Mathias and M{\"u}ller, J{\"o}rg and Murphy, Grace and Myers-Smith, Isla H. and Myster, Randall W. and Naumov, Andrew and Neat, Francis and Nelson, James A. and Nelson, Michael Paul and Newton, Stephen F. and Norden, Natalia and Oliver, Jeffrey C. and Olsen, Esben M. and Onipchenko, Vladimir G. and Pabis, Krzysztof and Pabst, Robert J. and Paquette, Alain and Pardede, Sinta and Paterson, David M. and P{\´e}lissier, Rapha{\"e}l and Pe{\~n}uelas, Josep and P{\´e}rez-Matus, Alejandro and Pizarro, Oscar and Pomati, Francesco and Post, Eric and Prins, Herbert H. T. and Priscu, John C. and Provoost, Pieter and Prudic, Kathleen L. and Pulliainen, Erkki and Ramesh, B. R. and Ramos, Olivia Mendivil and Rassweiler, Andrew and Rebelo, Jose Eduardo and Reed, Daniel C. and Reich, Peter B. and Remillard, Suzanne M. and Richardson, Anthony J. and Richardson, J. Paul and van Rijn, Itai and Rocha, Ricardo and Rivera-Monroy, Victor H. and Rixen, Christian and Robinson, Kevin P. and Rodrigues, Ricardo Ribeiro and de Cerqueira Rossa-Feres, Denise and Rudstam, Lars and Ruhl, Henry and Ruz, Catalina S. and Sampaio, Erica M. and Rybicki, Nancy and Rypel, Andrew and Sal, Sofia and Salgado, Beatriz and Santos, Flavio A. M. and Savassi-Coutinho, Ana Paula and Scanga, Sara and Schmidt, Jochen and Schooley, Robert and Setiawan, Fakhrizal and Shao, Kwang-Tsao and Shaver, Gaius R. and Sherman, Sally and Sherry, Thomas W. and Siciński, Jacek and Sievers, Caya and da Silva, Ana Carolina and da Silva, Fernando Rodrigues and Silveira, Fabio L. and Slingsby, Jasper and Smart, Tracey and Snell, Sara J. and Soudzilovskaia, Nadejda A. and Souza, Gabriel B. G. and Souza, Flaviana Maluf and Souza, Vin{\´i}cius Castro and Stallings, Christopher D. and Stanforth, Rowan and Stanley, Emily H. and Sterza, Jos{\´e} Mauro and Stevens, Maarten and Stuart-Smith, Rick and Suarez, Yzel Rondon and Supp, Sarah and Tamashiro, Jorge Yoshio and Tarigan, Sukmaraharja and Thiede, Gary P. and Thorn, Simon and Tolvanen, Anne and Toniato, Maria Teresa Zugliani and Totland, {\O}rjan and Twilley, Robert R. and Vaitkus, Gediminas and Valdivia, Nelson and Vallejo, Martha Isabel and Valone, Thomas J. and Van Colen, Carl and Vanaverbeke, Jan and Venturoli, Fabio and Verheye, Hans M. and Vianna, Marcelo and Vieira, Rui P. and Vrška, Tom{\´a}š and Vu, Con Quang and Vu, Lien Van and Waide, Robert B. and Waldock, Conor and Watts, Dave and Webb, Sara and Wesołowski, Tomasz and White, Ethan P. and Widdicombe, Claire E. and Wilgers, Dustin and Williams, Richard and Williams, Stefan B. and Williamson, Mark and Willig, Michael R. and Willis, Trevor J. and Wipf, Sonja and Woods, Kerry D. and Woehler, Eric J. and Zawada, Kyle and Zettler, Michael L.}, title = {BioTIME: A database of biodiversity time series for the Anthropocene}, series = {Global Ecology and Biogeography}, volume = {27}, journal = {Global Ecology and Biogeography}, doi = {10.1111/geb.12729}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-222846}, pages = {760-786}, year = {2018}, abstract = {Motivation The BioTIME database contains raw data on species identities and abundances in ecological assemblages through time. These data enable users to calculate temporal trends in biodiversity within and amongst assemblages using a broad range of metrics. BioTIME is being developed as a community-led open-source database of biodiversity time series. Our goal is to accelerate and facilitate quantitative analysis of temporal patterns of biodiversity in the Anthropocene. Main types of variables included The database contains 8,777,413 species abundance records, from assemblages consistently sampled for a minimum of 2 years, which need not necessarily be consecutive. In addition, the database contains metadata relating to sampling methodology and contextual information about each record. Spatial location and grain BioTIME is a global database of 547,161 unique sampling locations spanning the marine, freshwater and terrestrial realms. Grain size varies across datasets from 0.0000000158 km2 (158 cm2) to 100 km2 (1,000,000,000,000 cm2). Time period and grain BioTIME records span from 1874 to 2016. The minimal temporal grain across all datasets in BioTIME is a year. Major taxa and level of measurement BioTIME includes data from 44,440 species across the plant and animal kingdoms, ranging from plants, plankton and terrestrial invertebrates to small and large vertebrates. Software format .csv and .SQL.}, language = {en} } @phdthesis{Mueller2023, author = {M{\"u}ller, Jonathan}, title = {Charakterisierung von CEACAM1 in der Retina und Choroidea am Mausmodell}, doi = {10.25972/OPUS-30554}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-305546}, school = {Universit{\"a}t W{\"u}rzburg}, year = {2023}, abstract = {Carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) ist ein multifunktionales Zell-Zell Adh{\"a}sionsprotein, das in eine Vielzahl an zellul{\"a}ren Prozessen involviert ist, wie zum Beispiel der Differenzierung von Geweben, der Tumorsuppression, Metastasierung, Angiogenese und Apoptose. Außerdem hat es modulierende Eigenschaften auf die angeborene und erworbene Immunantwort. In der vorliegenden Arbeit charakterisierte ich initial die Lokalisation und die CEACAM1-exprimierenden Zelltypen im Auge und bestimmte quantitativ die Expression von Ceacam1 in der Retina und Choroidea zu unterschiedlichen Zeitpunkten. Es zeigte sich hierbei, dass Ceacam1 zu allen untersuchten Zeitpunkten, sowohl w{\"a}hrend der Entwicklung als auch im adulten retinalen und choroidalen Gewebe nachweisbar war. Mittels Immunhistochemie konnte die Expression von CEACAM1 im Corneaepithel, den Gef{\"a}ßen der Iris und des Ziliark{\"o}rpers, im nicht-pigmentierten Epithel des Ziliark{\"o}rpers, sowie in den retinalen und choroidalen Gef{\"a}ßen nachgewiesen werden. Durch Doppelf{\"a}rbung mit Kollagen IV konnte die endotheliale Expression von CEACAM1 in den Endothelzellen der Gef{\"a}ße best{\"a}tigt werden. Im zweiten Teil meiner Arbeit untersuchte ich die Funktion von CEACAM1 im Auge und verglich dazu wildtypische Retinae mit Cc1-/--Retinae. Es zeigten sich keine offensichtlichen morphologischen Ver{\"a}nderungen der retinalen Schichten und die anschließend durchgef{\"u}hrten morphometrischen Analysen der Schichtdicken der retinalen Neurone zeigte keine Anzeichen einer Neurodegeneration. Allerdings waren in Cc1-/--Retinae kleine Zysten und IBA1 positive, phagozytisch aktive Zellen im subneuroretinalen Raum, also dem Bereich zwischen RPE und den Außensegmenten der Photorezeptoren zu erkennen. Die anschließend durchgef{\"u}hrten Expressionsanalysen immunmodulierender Faktoren und von Mitgliedern des TGF-β-Signalwegs in retinalen und choroidealen Proben wildtypischer und Cc1-/--M{\"a}usen zeigten keine ver{\"a}nderte Expression f{\"u}r Iba1, Ccl2 sowie Tnf-α. Jedoch konnten signifikant erh{\"o}hte Werte f{\"u}r TGF-β1 in der Gruppe der 2-4 als auch der Gruppe der 9 Monate alten Cc1-/--Retinae im Vergleich zu wildtypischen Retinae nachgewiesen werden. Basierend auf den Daten der vorliegenden Arbeit kann geschlussfolgert werden, dass die Deletion von CEACAM1 unter physiologischen Bedingungen die Struktur der Retina und Choroidea nicht offensichtlich beeinflusst. Allerdings f{\"u}hrt die Deletion zu erh{\"o}hten Tgfβ1 Spiegeln in der Retina und zur Aktivierung und Akkumulation von IBA1 positiven Zellen im subneuroretinalen Raum.}, subject = {Angiogenese}, language = {de} } @article{DollVonaSchnappetal.2020, author = {Doll, Julia and Vona, Barbara and Schnapp, Linda and R{\"u}schendorf, Franz and Khan, Imran and Khan, Saadullah and Muhammad, Noor and Alam Khan, Sher and Nawaz, Hamed and Khan, Ajmal and Ahmad, Naseer and Kolb, Susanne M. and K{\"u}hlewein, Laura and Labonne, Jonathan D. J. and Layman, Lawrence C. and Hofrichter, Michaela A. H. and R{\"o}der, Tabea and Dittrich, Marcus and M{\"u}ller, Tobias and Graves, Tyler D. and Kong, Il-Keun and Nanda, Indrajit and Kim, Hyung-Goo and Haaf, Thomas}, title = {Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families}, series = {Genes}, volume = {11}, journal = {Genes}, number = {11}, issn = {2073-4425}, doi = {10.3390/genes11111329}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-219293}, year = {2020}, abstract = {The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for studying rare and novel forms of recessive HL. A combined exome sequencing, bioinformatics analysis, and gene mapping approach for 21 consanguineous Pakistani families revealed 13 pathogenic or likely pathogenic variants in the genes GJB2, MYO7A, FGF3, CDC14A, SLITRK6, CDH23, and MYO15A, with an overall resolve rate of 61.9\%. GJB2 and MYO7A were the most frequently involved genes in this cohort. All the identified variants were either homozygous or compound heterozygous, with two of them not previously described in the literature (15.4\%). Overall, seven missense variants (53.8\%), three nonsense variants (23.1\%), two frameshift variants (15.4\%), and one splice-site variant (7.7\%) were observed. Syndromic HL was identified in five (23.8\%) of the 21 families studied. This study reflects the extreme genetic heterogeneity observed in HL and expands the spectrum of variants in deafness-associated genes.}, language = {en} }