Genetically proxied therapeutic prolyl-hydroxylase inhibition and cardiovascular risk

por Harlow, Charli E, Patel, Vickas V, Waterworth, Dawn M, Wood, Andrew R, Beaumont, Robin N, Ruth, Katherine S, Tyrrell, Jessica, Oguro-Ando, Asami, Chu, Audrey Y, Frayling, Timothy M
Publicado 2022

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

por Bando, Hironori, Brinkmeier, Michelle L, Castinetti, Frederic, Fang, Qing, Lee, Mi-Sun, Saveanu, Alexandru, Albarel, Frédérique, Dupuis, Clémentine, Brue, Thierry, Camper, Sally A
Publicado 2022

Failure of diet-induced transcriptional adaptations in alpha-synuclein transgenic mice

por Kilzheimer, Alexander, Hentrich, Thomas, Rotermund, Carola, Kahle, Philipp J, Schulze-Hentrich, Julia M
Publicado 2022

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

por Flex, Elisabetta, Albadri, Shahad, Radio, Francesca Clementina, Cecchetti, Serena, Lauri, Antonella, Priolo, Manuela, Kissopoulos, Marta, Carpentieri, Giovanna, Fasano, Giulia, Venditti, Martina, Magliocca, Valentina, Bellacchio, Emanuele, Welch, Carrie L, Colombo, Paolo C, Kochav, Stephanie M, Chang, Richard, Barrick, Rebekah, Trivisano, Marina, Micalizzi, Alessia, Borghi, Rossella, Messina, Elena, Mancini, Cecilia, Pizzi, Simone, De Santis, Flavia, Rosello, Marion, Specchio, Nicola, Compagnucci, Claudia, McWalter, Kirsty, Chung, Wendy K, Del Bene, Filippo, Tartaglia, Marco
Publicado 2022

The ILHBN: challenges, opportunities, and solutions from harmonizing data under heterogeneous study designs, target populations, and measurement protocols

por Chow, Sy-Miin, Nahum-Shani, Inbal, Baker, Justin T, Spruijt-Metz, Donna, Allen, Nicholas B, Auerbach, Randy P, Dunton, Genevieve F, Friedman, Naomi P, Intille, Stephen S, Klasnja, Predrag, Marlin, Benjamin, Nock, Matthew K, Rauch, Scott L, Pavel, Misha, Vrieze, Scott, Wetter, David W, Kleiman, Evan M, Brick, Timothy R, Perry, Heather, Wolff-Hughes, Dana L
Publicado 2022

Model-driven experimental design workflow expands understanding of regulatory role of Nac in Escherichia coli

por Park, Joon Young, Lee, Sang-Mok, Ebrahim, Ali, Scott-Nevros, Zoe K, Kim, Jaehyung, Yang, Laurence, Sastry, Anand, Seo, Sang Woo, Palsson, Bernhard O, Kim, Donghyuk
Publicado 2023

BLEND: a fast, memory-efficient and accurate mechanism to find fuzzy seed matches in genome analysis

por Firtina, Can, Park, Jisung, Alser, Mohammed, Kim, Jeremie S, Cali, Damla Senol, Shahroodi, Taha, Ghiasi, Nika Mansouri, Singh, Gagandeep, Kanellopoulos, Konstantinos, Alkan, Can, Mutlu, Onur
Publicado 2023

Pairwise ratio-based differential abundance analysis of infant microbiome 16S sequencing data

por Mildau, Kevin, te Beest, Dennis E, Engel, Bas, Gort, Gerrit, Lambert, Jolanda, Swinkels, Sophie H N, van Eeuwijk, Fred A
Publicado 2023

Environmental chemicals and endogenous metabolites in bile of USA and Norway patients with primary sclerosing cholangitis

por Grant, Caroline W, Juran, Brian D, Ali, Ahmad H, Schlicht, Erik M, Bianchi, Jackie K, Hu, Xin, Liang, Yongliang, Jarrell, Zachery, Liu, Ken H, Go, Young-Mi, Jones, Dean P, Walker, Douglas I, Miller, Gary W, Folseraas, Trine, Karlsen, Tom H, LaRusso, Nicholas F, Gores, Gregory J, Athreya, Arjun P, Lazaridis, Konstantinos N
Publicado 2023

scMEGA: single-cell multi-omic enhancer-based gene regulatory network inference

por Li, Zhijian, Nagai, James S, Kuppe, Christoph, Kramann, Rafael, Costa, Ivan G
Publicado 2023

Spectrum of auto-inflammatory diseases in Morocco: a monocentric experience

por Souali, Manal, Sakhi, Asmaa, Benbrahim Ansari, Ghita, Mikou, Nabiha, Bousfiha, Ahmed Aziz, Bouayed, Kenza
Publicado 2023

Exploring the perspective of patients with immune-mediated inflammatory diseases and care providers on the use of immunomodulatory drugs in infections: an interview study

por Opdam, Merel A A, Vriezekolk, Johanna E, Broen, J, den Broeder, Alfons A, Verhoef, Lise M
Publicado 2023

The social neuroscience of eating: an introduction to the special issue

por Hall, Peter A, Rolls, Edmund, Berkman, Elliot
Publicado 2022

Clinical image: spondylodiscitis as a complication of urosepsis caused by extracorporeal shock wave lithotripsy for kidney stones

por Gallina, Pasquale, Dardo, Maddalena, Pedone, Agnese, Travaglini, Fabrizio
Publicado 2023

Collateral damage: a case report of vertebral artery dissection and stroke in the young with persistent primitive trigeminal artery

por Caesar, Kymmi S, Maharaj, Dale A, Ramlakhansingh, Anil, Sinanan, Alexander, Ramsingh, Richard
Publicado 2023

Post thrombolytic alveolar hemorrhage: a case report

por Mardenli, Mahmoud, Ghabally, Mike, Horo, Barkhodan, Alkhatib, Qais, Raee, Malek
Publicado 2023

Cardiogenic shock secondary to stress-induced cardiomyopathy precipitated by severe diabetic ketoacidosis

por Gurreri, Riley, Poommipanit, Paul, Alghamdi, Abdullah
Publicado 2023

Cerebral venous sinus thrombosis after COVID-19 vaccination: a case report and literature review

por Elfil, Mohamed, Aladawi, Mohammad, Balian, Dmitry, Fahad, Ismail, Zhou, Daniel J, Villafuerte-Trisolini, Brian, Diesing, Thomas Scott
Publicado 2023

Pleomorphic adenoma of nasal septum, an unusual site: a case report from Nepal

por Aryal, Gyan Raj, Shrestha, Nischal, Basnet, Meenakshi, Shrestha, Oshan, Sharma, Pratikshya
Publicado 2023

Progressively confluent monkeypox lesions with necrosis

por Smith, Kolton, Tyson, Kelly, Hossain, Raeesa, Young, Alexandra, Melnick, Jillian
Publicado 2023