Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Bernice Lo"'
Autor:
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-17 (2024)
Abstract Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies. Methods He
Externí odkaz:
https://doaj.org/article/b4266c219952427a95b95677aa94733a
Autor:
Satanay Hubrack, Maryam Ali Al-Nesf, Nourhen Agrebi, Christophe Raynaud, Mohammed Abu Khattab, Merlin Thomas, Tayseer Ibrahim, Salma Taha, Said Dermime, Maysaloun Merhi, Michal Kulinski, Martin Steinhoff, Patrick Tang, Bernice Lo
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract MAIT cells have been shown to be activated upon several viral infections in a TCR-independent manner by responding to inflammatory cytokines secreted by antigen-presenting cells. Recently, a few studies have shown a similar activation of MAI
Externí odkaz:
https://doaj.org/article/549c712b924949f8b6e4d46b8a7dc804
Autor:
Joanne M. Hildebrand, Bernice Lo, Sara Tomei, Valentina Mattei, Samuel N. Young, Cheree Fitzgibbon, James M. Murphy, Abeer Fadda
Publikováno v:
Cell Death and Disease, Vol 12, Iss 4, Pp 1-9 (2021)
Abstract Maturity-onset diabetes of the young, MODY, is an autosomal dominant disease with incomplete penetrance. In a family with multiple generations of diabetes and several early onset diabetic siblings, we found the previously reported P33T PDX1
Externí odkaz:
https://doaj.org/article/e61c565fec3c4a6ca53884f5c59289ba
Autor:
Ahmad A. Al-Shaibi, Ussama M. Abdel-Motal, Satanay Z. Hubrack, Alex N. Bullock, Amna A. Al-Marri, Nourhen Agrebi, Abdulrahman A. Al-Subaiey, Nazira A. Ibrahim, Adrian K. Charles, Mamoun Elawad, Holm H. Uhlig, Bernice Lo, Saad R. Al-Kaabi, Muneera J. Al-Mohannadi, Fayaz A. Mir, Simon P.L. Travis, Anthony K. Akobeng, Fatma Al-Mudahka
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 5, Pp 1809-1830 (2021)
Background & Aims: The gastrointestinal epithelium plays a crucial role in maintaining homeostasis with the gut microbiome. Mucins are essential for intestinal barrier function and serve as a scaffold for antimicrobial factors. Mucin 2 (MUC2) is the
Externí odkaz:
https://doaj.org/article/5ba41cf384b742d58abb789f5c058425
Autor:
Niusha Sharifinejad, Mahnaz Jamee, Majid Zaki-Dizaji, Bernice Lo, Mohammadreza Shaghaghi, Hamed Mohammadi, Farhad Jadidi-Niaragh, Shiva Shaghaghi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi, Gholamreza Azizi
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Background: Zeta-Chain Associated Protein Kinase 70 kDa (ZAP-70) deficiency is a rare combined immunodeficiency (CID) caused by recessive homozygous/compound heterozygous loss-of-function mutations in the ZAP70 gene. Patients with ZAP-70 deficiency p
Externí odkaz:
https://doaj.org/article/5b693c19dc134c7fb9370573bf04bfd9
Autor:
Andrea Lisco, Chun-Shu Wong, Susan Price, Peiying Ye, Julie Niemela, Megan Anderson, Elizabeth Richards, Maura Manion, Harry Mystakelis, Morgan Similuk, Bernice Lo, Jennifer Stoddard, Sergio Rosenzweig, Christophe Vanpouille, Adam Rupert, Irina Maric, Ainhoa Perez-Diez, David Parenti, Peter D. Burbelo, V. Koneti Rao, Irini Sereti
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Externí odkaz:
https://doaj.org/article/0c02a451dd20455b95a189bfdc1f0bc9
Autor:
Andrea Lisco, Chun-Shu Wong, Susan Price, Peiying Ye, Julie Niemela, Megan Anderson, Elizabeth Richards, Maura Manion, Harry Mystakelis, Morgan Similuk, Bernice Lo, Jennifer Stoddard, Sergio Rosenzweig, Christophe Vanpouille, Adam Rupert, Irina Maric, Ainhoa Perez-Diez, David Parenti, Peter D. Burbelo, V. Koneti Rao, Irini Sereti
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Autoimmune lymphoproliferative syndrome (ALPS) is caused by germline or somatic loss of function FAS mutations resulting in impaired apoptosis and consequent expansion of T-lymphocytes causing organomegaly and autoimmune anemia, neutropenia and throm
Externí odkaz:
https://doaj.org/article/318ffdda9a354f6e903f114e3add0309
Autor:
Abeer Fadda, Mohamed Alsabbagh, Dhanya Vasudeva, Amira Saeed, Sara Aglan, Satanay Z Hubrack, Ruba Benini, Bernice Lo, Khaled Zamel
Epilepsy is one of the most common neurological disorders. The cost to the health system and the impact on quality of life for patients with intractable epilepsies and associated comorbidities is significant. Disease etiology and pathogenesis are sti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a47f12a03da7f5228548f4265d72033
https://doi.org/10.21203/rs.3.rs-2358929/v1
https://doi.org/10.21203/rs.3.rs-2358929/v1
Autor:
Mehmet C. Catak, Bengu Akcam, Sevgi Bilgic Eltan, Royala Babayeva, Ibrahim S. Karakus, Gamze Akgun, Dilek Baser, Alper Bulutoglu, Feyza Bayram, Nurhan Kasap, Ayca Kiykim, Gonca Hancioglu, Sefika I. Kokcu Karadag, Yasemin kendir Demirkol, Selime Ozen, Sukru Cekic, Dilek Ozcan, Neslihan Edeer Karaca, Ayse S. Sasihuseyinoglu, Murat Cansever, Esra Ozek Yucel, Zeynep Tamay, Derya U. Altintas, Cigdem Aydogmus, Fatih Celmeli, Haluk Cokugras, Nesrin Gulez, Ferah Genel, Ayse Metin, Sukru N. Guner, Necil Kutukculer, Sevgi Keles, Ismail Reisli, Sara S. Kilic, Alisan Yildiran, Elif Karakoc‐Aydiner, Bernice Lo, Ahmet Ozen, Safa Baris
© 2022 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.Background: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency and cytotoxic T-lymphocyte protein-4 (CTLA-4) insufficiency are recently described d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d0b7664b5951635514430e6e5152d4
https://hdl.handle.net/11424/289151
https://hdl.handle.net/11424/289151
Autor:
Asena Pinar Sefer, Salim Can, Alper Bulutoğlu, Dilek Başer, Ali Islek, Derya Ufuk Altintaş, Safa Baris, Elif Karakoç. Aydiner, Bernice Lo, Ahmet Ozen
Publikováno v:
Clinical Immunology. 250:109587