Results 161 to 170 of about 607,896 (303)

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger   +28 more
wiley   +1 more source

Malignancies in patients with inborn errors of immunity: insights from 20-years of clinical experience in Qatar. [PDF]

open access: yesFront Immunol
Khalil SM   +9 more
europepmc   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh   +5 more
wiley   +1 more source

Nicotinamide-mediated clinical improvement in CEBPE-related immunodeficiency. [PDF]

open access: yesPediatr Allergy Immunol
Dwivedi P   +9 more
europepmc   +1 more source

Leptin May Promote Eosinophilic CRSwNP Progression by Enhancing Eosinophil Chemotaxis and Angiogenesis Under a Type 2 Inflammatory Milieu

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyp (CRSwNP) is a heterogeneous Type 2 inflammatory disease characterized by enhanced eosinophilic infiltration. Both innate and adaptive immunity are involved in the onset and progression of CRSwNP.
Yuki Sonoda   +4 more
wiley   +1 more source

TNF receptor–related factor 3 inactivation promotes the development of intrahepatic cholangiocarcinoma through NF‐κB‐inducing kinase–mediated hepatocyte transdifferentiation

open access: yesHepatology, EarlyView., 2022
Abstract Background and Aims Intrahepatic cholangiocarcinoma (ICC) is a deadly but poorly understood disease, and its treatment options are very limited. The aim of this study was to identify the molecular drivers of ICC and search for therapeutic targets.
Yuto Shiode   +16 more
wiley   +1 more source

Beyond Nature's Blueprint: Macrocyclic Peptides Containing Unnatural Amino Acids in Therapeutic Development

open access: yesAngewandte Chemie, EarlyView.
Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma   +5 more
wiley   +2 more sources

Robotic subxiphoid-optical thymectomy for Good's syndrome in a severely immunocompromised patient: a case report. [PDF]

open access: yesTransl Lung Cancer Res
Kawanishi R   +9 more
europepmc   +1 more source

Microbial‐Metabolite Signatures Are Associated With Glucocorticoid Responsiveness in Chronic Rhinosinusitis With Nasal Polyps

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang   +7 more
wiley   +1 more source

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