Results 101 to 110 of about 501,602 (328)

IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID

Iranian Journal of Allergy, Asthma and Immunology, 2011
SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing.
Sepideh Safaei, Zahra Pourpak, Mostafa Moin, Massoud Houshmand   +3 more
doaj  

Local Immunodeficiency: Minimal Networks and Stability [PDF]

arXiv, 2018
Some basic aspects of the recently discovered phenomenon of local immunodeficiency \cite{pnas} generated by antigenic cooperation in cross-immunoreactivity (CR) networks are investigated. We prove that local immunodeficiency (LI) that's stable under perturbations already occurs in very small networks and under general conditions on their parameters ...
arxiv  

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

Clinical effectiveness and treatment satisfaction between two triple‐therapy regimens in treating neuropathic pain: A real‐world data

Ibrain, EarlyView., 2023
This study compared the clinical effectiveness and treatment satisfaction of Pregabalin and Gabapentin triple therapy for neuropathic pain in a real‐world setting. The primary outcome measured the reduction in mean Self‐Administered Leeds Assessment of Neuropathic Symptoms and Signs pain score value from baseline to 12 weeks posttreatment.
Nithya Raju, Samyuktha Villavan, Saranya Ravi, Roja Murugesan, Panneerselvam Theivendren, Vennila Jaganathan, Redlin Jani Rajan, Krupanidhi Karunanithi   +7 more
wiley   +1 more source

Severe Combined Immunodeficiency with Cartilage-Hair Hypoplasia: In Vitro Response to Thymosin and Attempted Reconstitution [PDF]

, 1976
Russell W. Steele, Howard A. Britton, Claude T Anderson, William T. Kniker   +3 more
openalex   +1 more source

Application of humanized mice in the safety experiments of antibody drugs

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract of this review highlights the critical role of humanized mice in the safety evaluation of antibody drugs. First, the inherent immunogenicity of antibody drugs can lead to the production of antidrug antibodies and hypersensitivity reactions on repeated administration.
Zhimin Sun, Mengyun Gu, Zixuan Yang, Lei Shi, Liyuan Zhao, Minhui Zheng, Yan Wang, Wei Zhang, Kexin Han, Naping Tang   +9 more
wiley   +1 more source

Identification of bioactive compounds and molecular targets of Fuke Huahuang formulation to treat vaginitis

Animal Models and Experimental Medicine, EarlyView.
Fuke Huahuang formulation (FHF) is used to treat vaginitis, and it exerts a promising anti‐inflammatory effect in clinical use. However, the detailed components and mechanisms of FHF for treating vaginitis remain unreported, and further preclinical evaluation is required to reveal its potential pharmacological activities against vaginitis.
Huiyu Liu, Jie Mo, Cheng Liang, Qingting Chen, Bin Yang, Jiaqi Liu   +5 more
wiley   +1 more source

Associations between early‐life and in utero infections and cytomegalovirus‐positive acute lymphoblastic leukemia in children

International Journal of Cancer, Volume 152, Issue 5, Page 845-853, 1 March 2023., 2023
What's new? Cytomegalovirus (CMV) infection early in life likely contributes to the development of childhood acute lymphoblastic leukemia (ALL), owing to CMV‐induced alterations in immune function. In the present study, the relationship between risk of childhood ALL and exposure to CMV in utero or early life was investigated among children with ALL who
Rachel E. Gallant, Katti Arroyo, Catherine Metayer, Alice Y. Kang, Adam J. de Smith, Joseph L. Wiemels   +5 more
wiley   +1 more source