Results 51 to 60 of about 1,365 (154)

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

Sunscreen and Photoprotection Habits for Patients With Porphyria and Non‐Porphyric Photosensitivity Conditions

Photodermatology, Photoimmunology &Photomedicine, Volume 41, Issue 4, July 2025.
ABSTRACT Background/Objectives Individuals with photosensitivity diseases, including porphyria, face significant challenges in managing their condition due to heightened sensitivity to ultraviolet (UV) and visible light. Comprehensive photoprotection strategies are essential and prioritize environmental modifications, behavioral adjustments, protective
David Bajek, Robert Dawe, Ewan Eadie, Victoria A. McGuire, Sally Ibbotson   +4 more
wiley   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +2 more sources

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Photocarcinogenesis of the skin: Current status and future trends

The Kaohsiung Journal of Medical Sciences, Volume 41, Issue 4, April 2025.
Abstract Solar radiation is essential for life on Earth but is also a major contributor to skin carcinogenesis. Solar radiation, particularly ultraviolet (UV) B (280–320 nm) and UVA (320–400 nm), induces photocarcinogenesis via various pathways. UV light can directly cause DNA damage, resulting in genetic mutations if not repaired correctly.
Ting‐Ting Yang, Cheng‐Che E. Lan
wiley   +1 more source

Erythropoietic Protoporphyria Masquerading as Angioedema in a 4-Year-Old Female

Allergy, Asthma & Clinical Immunology, 2006
Angioedema is a common presentation with a broad differential, including rare disorders with which an allergist must be familiar. Our objective was to report a case of swelling of the hands and feet mimicking angioedema with hepatomegaly in a 4-year-old ...
Wang Helen C, Yousef Ejaz
doaj   +1 more source

Increased Mitochondrial Superoxide Level Is Partially Associated With Vemurafenib‐Induced Renal Tubular Toxicity

Basic &Clinical Pharmacology &Toxicology, Volume 136, Issue 4, April 2025.
Vemurafenib (VEM) induces renal tubular toxicity through mitochondrial dysfunction and lysosomal abnormalities. Superoxide production is a key factor, and mitochondrial antioxidant XJB‐5‐131 partially alleviated this toxicity. Autophagy impairment is also suggested.
Akimasa Sanagawa, Hiroshi Takase
wiley   +1 more source

Cord blood porphyrin analysis in neonates at risk of inheriting protoporphyria: An observational cohort study

British Journal of Haematology, Volume 207, Issue 3, Page 1148-1151, September 2025.
Danja Schulenburg‐Brand, Russell Peek, Lucy Bentley, Rebecca Swingler, Yana T. Pavlova, Robert S. Dawe, Victoria A. McGuire   +6 more
wiley   +1 more source

Real‐world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X‐linked protoporphyria

The Journal of Dermatology, Volume 52, Issue 3, Page 416-422, March 2025.
Abstract Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) are rare genetic disorders. There are limited data regarding how these disorders are managed in real‐world settings. The aim of this study was to document the characteristics and treatment patterns among patients diagnosed with EPP or XLP in general real‐world settings in ...
Samuel M. Silver, Katherine Houghton, Abby Hitchens, Valérie Derrien Ansquer, Malgorzata Ciepielewska   +4 more
wiley   +1 more source

Recurrent hepatic flares after SARS-CoV-2 vaccination in a patient with erythropoietic protoporphyria: A case report

Rare
Erythropoietic protoporphyria (EPP) is a rare genetic disorder that can lead to liver complications in a subset of patients. We describe the case of a 36-year-old woman with genetically confirmed EPP who developed acute liver injury following the second ...
Francesca Granata, Simona Leoni, Valeria Di Stefano, Anna Ludovica Fracanzani, Giovanna Graziadei   +4 more
doaj   +1 more source