Results 101 to 110 of about 4,846,243 (320)

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

Journal of Allergy and Clinical Immunology: In Practice, 2019
Patient registries are instrumental for clinical research in rare diseases. They help to achieve a sufficient sample size for epidemiological and clinical research and to assess the feasibility of clinical trials.
M. Seidel, G. Kindle, B. Gathmann, I. Quinti, M. Buckland, J. V. van Montfrans, R. Scheible, Stephan Rusch, Lukas M. Gasteiger, B. Grimbacher, N. Mahlaoui, S. Ehl, M. Abinun, Michael H. Albert, S. Cohen, J. Bustamante, Andrew J. Cant, J. Casanova, Helen Chapel, G. de Saint Basile, E. de Vries, I. Dokal, J. Donadieu, A. Durandy, David J. Edgar, Teresa Español, Amos Etzioni, A. Fischer, B. Gaspar, R. Gatti, A. Gennery, S. Grigoriadou, Steven M. Holland, G. Janka, Maria Kanariou, Christoph Klein, H. Lachmann, D. Lilić, A. Manson, N. Martínez, I. Meyts, N. Moes, D. Moshous, B. Neven, Hans D. Ochs, C. Picard, E. Renner, F. Rieux-Laucat, Reinhard A. Seger, A. Soresina, D. Stoppa-Lyonnet, V. Thon, A. Thrasher, F. L. van de Veerdonk, A. Villa, C. Weemaes, K. Warnatz, Beata Wolska, Shen-Ying Zhang   +58 more
semanticscholar   +1 more source

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source

Hailey-Hailey disease: clinical, diagnostic and therapeutic update [PDF]

Anais Brasileiros de Dermatologia
Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes.
Adriana Maria Porro, Camila Arai Seque, Denise Miyamoto, Diego Vanderlei Medeiros da Nóbrega, Milvia Maria Simões e Silva Enokihara, Claudia Giuli Santi   +5 more
doaj   +1 more source

Rare disease landscape in Brazil : report of a successful experience in inborn errors of metabolism [PDF]

, 2016
Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private ...
Pena, Sérgio Danilo Juno, Giugliani, Roberto, Riegel, Mariluce, Souza, Carolina Fischinger Moura de, Schwartz, Ida Vanessa Doederlein, Vairo, Filippo Pinto e   +5 more
core  

Regulating Cells Fate and Function to Facilitate Bone Regeneration via Designing Programmable Bio‐Interactive Materials

Advanced Science, EarlyView.
This article aims to elucidate the biological mechanisms of bone repair and the evolution of material design, highlighting key cellular and molecular processes. It further proposes strategies and prospects for programmable bio‐interactive materials, which enable precisely guided bone tissue regeneration by dynamically regulating cell behavior and the ...
Qingrui Fan, Fuming Cao, Junqiang Mao, Pengbin Yin, Licheng Zhang, Jianjun Wang, Peifu Tang   +6 more
wiley   +1 more source

Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review

Current Opinion in Allergy and Clinical Immunology
Purpose of review Inborn errors of immunity with atopic phenotypes (IEIwA) are a subgroup of IEI that may present with severe and/or multiple atopic clinical manifestations.
Ivan Taietti, Francesco Catamerò, L. Lodi, M. Giovannini, Riccardo Castagnoli   +4 more
semanticscholar   +1 more source

The silent crisis: Economic burden of genetic disease diagnosis in lowand middle-income countries (LMICs) [PDF]

Scripta Medica
Genetic disorders, although secondary to infectious and non-communicable diseases in the global health priority agenda, are an important drain, albeit ill-defined, on the economies of lowand middle-income countries (LMICs) and on their health resources ...
Baig Atif Amin, Thein Khin Hla Hla, Htoo Phone Myint, Anwar Khawar, Chopra Hitesh, Chopra Shivani   +5 more
doaj   +1 more source

TAB2 Causes Neuronal Damage by Aggravating Microglia‐Mediated Neuroinflammation in Parkinson's Disease

Advanced Science, EarlyView.
In microglia, STAT3 upregulates TAB2, which promotes NF‐κB activation through its NZF domain‐mediated recognition of K63‐linked ubiquitin chains, leading to inflammatory cytokine release and subsequent neuronal injury. Lumacaftor suppresses TAB2 expression and directly binds the TAB2‐NZF domain to interrupt K63 ubiquitin recognition, thereby blocking ...
Yanhao Zhao, Zimeng Huang, Jianing Gao, Aolan Li, Huizhi Wang, Yingchuan Chen, Guanyu Zhu, Xin Zhang, Yin Jiang, Moxuan Zhang, Fangang Meng, Jianguo Zhang, Tingting Du   +12 more
wiley   +1 more source

Gene therapy for inborn errors of immunity: current clinical progress.

Annals of Allergy, Asthma & Immunology
Hematopoietic stem cell transplant has been the single curative treatment for inborn errors of immunity (IEI) and is recommended for the most severe IEI conditions, such as severe combined immunodeficiency (SCID).
Sathi P. Wijeyesinghe, J. Chinen
semanticscholar   +1 more source

Drought Stress Mediated Changes in Food Crops: Mechanisms and Remediation Strategies

Advanced Science, EarlyView.
This work presents a multi‐scale framework for flavonoid‐mediated drought tolerance in staple food crops, integrating ROS redox regulation, antioxidant defense, rhizosphere microbial interactions, and sustainable agronomic practices. This interdisciplinary model provides core insights to develop climate‐resilient cropping systems and enhance global ...
Xiaoyi Duan, Litao Wang, Tuuli‐Marjaana Koski, Lizhe An, Thomas Efferth, Yujie Fu   +5 more
wiley   +1 more source