De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

Autor: Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S. Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O’Donnell-Luria, Travis H. Stracker

Publikováno v: iScience, Vol 27, Iss 6, Pp 109984- (2024)

Summary: The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants underlie the neurodevelopmental disorder (NDD) ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), characterized

Externí odkaz: https://doaj.org/article/9fee7cb1f61b4d7e99ce9dad37542610

A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2

Autor: Stephen J. Fleming, Bo Li, Mehrtash Babadi, Katherine J. Siddle, Donald E. Ingber, Alexandra-Chloé Villani, Pritha Sen, Adam Essene, Marty Ross, Kushal K. Dey, Yiming Yang, Shamsudheen K. Vellarikkal, Olga R. Brook, Isaac H. Solomon, Phylicia Dorceus, Siddharth S. Raju, Tyler Hether, Sebastian Niezen, Dan Zollinger, Alexander Sturm, Pardis C. Sabeti, Purushothama Rao Tata, Yury Popov, Timothy L. Tickle, Ioannis S. Vlachos, Carly G. K. Ziegler, Jonathan L. Hecht, Z. Gordon Jiang, Winston Hide, James R. Stone, Rajat M. Gupta, Linus T.-Y. Tsai, Sarah Warren, Jesse M. Engreitz, Jonathan H. Chen, Victoria M. Tran, Michael Leney-Greene, Daniel T. Montoro, Michelle Siciliano, Asa Segerstolpe, Graham Heimberg, Pourya Naderi, Stefan Riedel, Alkes L. Price, Lisa A. Cosimi, Tyler Harvey, Toni Delorey, Prajan Divakar, Deborah T. Hung, Malika Sud, Joshua Gould, Rachelly Normand, Shuting Zhang, Orit Rozenblatt-Rosen, Ayshwarya Subramanian, Donna M. Fitzgerald, Steven Gazal, Devan Phillips, Cristin McCabe, Joseph M. Beechem, Nick Barkas, Erroll H. Rueckert, Dejan Juric, Hui Ma, Jason Reeves, Ellen Todres, Orr Ashenberg, Domenic Abbondanza, Alex K. Shalek, Liuliu Pan, Erica Normandin, Caroline B. M. Porter, Mari Niemi, Samouil L. Farhi, Robert S. Rogers, Deepti Pant, Gyongyi Szabo, Yered Pita-Juárez, Liat Amir-Zilberstein, Melissa Rudy, Christoph Muus, Christopher J. Pinto, Andrea Ganna, Aviv Regev, Robin Fropf, Michal Slyper, Richard M. Novak, Daniel E. McLoughlin, Jenna Pfiffner-Borges, Robert F. Padera, Eric M. Miller, Jayaraj Rajagopal, Avinash Waghray, Nir Hacohen, Karthik A. Jagadeesh, Judit Jané-Valbuena, James Gomez, Zohar Bloom-Ackermann

Publikováno v: bioRxiv

The SARS-CoV-2 pandemic has caused over 1 million deaths globally, mostly due to acute lung injury and acute respiratory distress syndrome, or direct complications resulting in multiple-organ failures. Little is known about the host tissue immune and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a261ef5f1b07087db03ed09fb065f0
https://europepmc.org/articles/PMC7924267/

Rewiring of the cellular and inter-cellular landscape of the human colon during ulcerative colitis

Autor: Ashwin N. Ananthakrishnan, Orit Rozenblatt-Rosen, Jose Ordovas-Montanes, Sanja Vickovic, Matan Hofree, Lan T. Nguyen, Elizabeth A. Creasey, Malika Sud, Grace Burgin, Moshe Biton, Aviv Regev, Daniel B. Graham, Michal Slyper, Adam L. Haber, Julia Waldman, Mark J. Daly, Danielle Dionne, Garber Jj, Noga Rogel, Alexandra-Chloé Villani, Alex K. Shalek, Christopher Smillie, Desch An, Ramnik J. Xavier, Keri M. Sullivan, Rebecca H. Herbst, Hamed Khalili, Hongyan Huang, Elizabeth Andrews

Genome-wide association studies (GWAS) have revealed risk alleles for ulcerative colitis (UC), but their cell type and pathway specificities are often unknown. Here, we generate an atlas of 115,517 cells from the colon mucosa of seven UC patients and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a0228cef9c4db32929ddd72e6f282b9