Results 231 to 240 of about 2,688,249 (266)

Improving access to gene therapy for rare diseases

Disease Models & Mechanisms
Thomas A. Fox, Claire Booth
doaj   +1 more source

Analysis of genetic overlap between inborn errors of immunity and neurodevelopmental disorders

Serra I, de Koning M, van der Spek PJ, Dalm VA, Badura A.   +4 more
europepmc   +1 more source

Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives. [PDF]

Immunother Adv
IJspeert H, Dalm VASH, van Zelm MC, Edwards ESJ.   +3 more
europepmc   +1 more source

Clade V MLO Genes Are Negative Modulators of Cucumber Defence Response to Meloidogyne incognita

Molecular Plant Pathology, Volume 26, Issue 4, April 2025.
Clade V MLO genes providing susceptibility to Meloidogyne incognita can be deployed for nematode resistance breeding in cucumbers. ABSTRACT Cucumber production is seriously constrained by Meloidogyne incognita. Because no resistance resources to the pathogen have been reported, disabling susceptibility genes may represent a novel breeding strategy to ...
Xiaoxiao Xie, Jian Ling, Shaoyun Dong, Mingjuan Zhai, Junru Lu, Jianlong Zhao, Xueyong Yang, Xin Dong, Yan Li, Richard G. F. Visser, Yuling Bai, Zhenchuan Mao, Shengping Zhang, Bingyan Xie   +13 more
wiley   +1 more source

Comparative Clinical and Imaging‐Based Evaluation of Therapeutic Modalities in CNS Embryonal Tumours With PLAGL Amplification

Neuropathology and Applied Neurobiology, Volume 51, Issue 2, April 2025.
ABSTRACT Aims Embryonal tumours with PLAGL1 or PLAGL2 amplification (ET, PLAGL) show substantial heterogeneity regarding their clinical characteristics and have been treated inconsistently, resulting in diverse outcomes. In this study, we aimed to evaluate the clinical behaviour of ET, PLAGL and elucidate their response pattern across the different ...
Michaela‐Kristina Keck, Anna Tietze, Brigitte Bison, Shivaram Avula, Julien Engelhardt, Cécile Faure‐Conter, Tanguy Fenouil, Dominique Figarella‐Branger, Einar Goebell, Johannes Gojo, Christine Haberler, Juhana Hakumäki, James T. Hayden, Laura S. Korhonen, Ewa Koscielniak, Christof M. Kramm, Mariëtte E. G. Kranendonk, Maarten Lequin, Louise E. Ludlow, David Meyronet, Per Nyman, Ingrid Øra, Thomas Perwein, Jouni Pesola, Tuomas Rauramaa, Roel Reddingius, David Samuel, Antoinette Y. N. Schouten‐van Meeteren, Alexandra Sexton‐Oates, Alexandre Vasiljevic, Thekla von Kalle, Annika K. Wefers, Pieter Wesseling, Josef Zamecnik, Michal Zapotocky, Katja von Hoff, David T. W. Jones   +36 more
wiley   +1 more source

Editorial: Inborn Errors of Immunity (IEI) breaking immune homeostasis and tolerance: a key role for T regulatory cells. [PDF]

Front Immunol
De Rosa V, Sogkas G, Bacchetta R.
europepmc   +1 more source

Loss of the vitamin A receptor RBPR2 in mice disrupts whole‐body retinoid homeostasis and the quantitative balance regulating retinylidene protein synthesis

The FASEB Journal, Volume 39, Issue 5, 15 March 2025.
Schematic representation outlining the proposed role of the vitamin A receptor RBPR2 in maintaining whole‐body retinoid homeostasis. Abstract The distribution of stored dietary vitamin A/all‐trans‐retinol (ROL) from the liver throughout the body is critical for maintaining retinoid function in peripheral tissues and for generating visual pigments for ...
Rakesh Radhakrishnan, Matthias Leung, Anjelynt Lor, Swati More, Glenn P. Lobo   +4 more
wiley   +1 more source

Inborn errors of immunity with susceptibility to S. aureus infections. [PDF]

Front Pediatr
Kurz H, Lehmberg K, Farmand S.
europepmc   +1 more source

Complications of the Bacillus Calmette-Guerin vaccine as an early warning sign of inborn errors of immunity: a report of 197 patients. [PDF]

Front Immunol
Fazlollahi MR, Goudarzi A, Nourizadeh M, Alizadeh Z, Tajik S, Badalzadeh M, Sarafzadeh SA, Mahlooji Rad M, Adab Z, Moradi L, Razaghian A, Sabetkish N, Pourpak Z, Moin M.   +13 more
europepmc   +1 more source