Results 211 to 220 of about 436,450 (285)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Neutrophil Antigen Presentation Reprograms the Tumor Microenvironment and Elicits Durable and Broad Antitumor Immunity. [PDF]

Cancer Res Commun
Wang H, Meng Q, Ito Y, Kusumakar K, Mayadas T.   +4 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Insights into cephalochordate genome and gene evolution from the early-diverging amphioxus <i>Asymmetron lucayanum</i>. [PDF]

Proc Natl Acad Sci U S A
Ren Y, Miao Z, Lin CY, Yang L, Li H, Holland LZ, Cho SJ, Yu JK, Yue JX.   +8 more
europepmc   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

Major Histocompatibility Complex Immunogenetic Diversity Differs Substantially Across Sea Turtle Species and Genomic Regions. [PDF]

Genome Biol Evol
Martin KR, Adkins JL, Chea V, Sarkis CM, Phillips KF, Forsman AM, Seney EE, Komoroske LM, Mansfield KL, Savage AE.   +9 more
europepmc   +1 more source

Nanostructured Lipid Carriers Overcome the Low Immunogenicity of M2e Peptide via Surface Click Chemistry Conjugation, Improving the Anti‐M2e Antibody Response

Advanced NanoBiomed Research, EarlyView.
1) Nanostructured lipid carriers efficiently vectorize low‐immunogenic M2e peptide. 2) M2e peptide conjugation via click chemistry preserves the peptide key epitopes. 3) Forty M2e peptides per nanoparticle are sufficient to induce robust immune responses.
Louis Bourlon, Carole Fournier, Antoine Hoang, Christine Charrat, Alban Lepetitcolin, Jessica Morlieras, Fabrice Navarro, Patrice N. Marche   +7 more
wiley   +1 more source

Development of advanced humanized models: The future of pre-clinical testing of immune therapies? [PDF]

Mol Ther Oncol
Bayliss RJ.
europepmc   +1 more source

MHC-Antikörper [PDF]

, 2019
openaire   +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source