Results 51 to 60 of about 7,531,846 (135)

Vitiligo

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 968-987, August 2025.
Summary Vitiligo is a common pigment disorder of the skin resulting in destruction of melanocytes. Non‐segmental vitiligo (NSV) is an autoimmune disorder. The etiopathogenesis of segmental vitiligo (SV) remains incompletely understood. Genetic predisposition and increased vulnerability of melanocytes towards stressors lead to a melanocyte‐specific CD8+
Markus Böhm, Adrian Tanew
wiley   +1 more source

Advanced drug delivery systems targeting to improve therapeutic outcomes in porphyria

, 2023
Porphyrias are known as disorders of the heme biosynthesis pathway. There are about eight metabolic disorders that make up the porphyrias. These eight metabolic disorders are porphyria cutanea tarda, acute intermittent porphyria, ALA-dehydratase ...
Dua, K, Pathak, S, Deruiter, J, Basetty, V, Dhanasekaran, M   +4 more
core   +1 more source

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

Molecular characterisation of erythropoietic protoporphyria in South Africa [PDF]

, 2006
Includes bibliographical ...
Parker, Michelle
core   +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

C-Terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

, 2008
All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, either c.1706-1709 delAGTG (p.E569GfsX24) or c.1699-1700 delAT
Deybach, Jean-Charles, Badminton, Michael N., Marsden, Joanne T., Ma, Yun, Grandchamp, Bernard, Corrigall, Anne V., Whatley, Sharon D., Gouya, Laurent, Mieli-Vergani, Giorgina, Holme, Alexander, Meissner, Peter N., Parker, Michelle, Ducamp, Sarah, Anstey, Alexander V., Badminton, Michael Norman, Beaumont, Carole, Holme, S. Alexander, Puy, Hervé, Anstey, Alexander Vincent, Elder, George H., Hift, Richard J.   +20 more
core   +1 more source

IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]

, 2010
Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
core   +1 more source

The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR) [PDF]

, 2010
Mental retardation (MR) is a handicap with severe implications not only for thosethat suffer from this disability, but also for their families, society and the welfaresystems which support them.
Carvill, Gemma
core   +1 more source

Cutaneous Sensitivity as a Unique Presentation of Liver Cirrhosis

, 2023
Introduction: We present a unique case of liver cirrhosis and cutaneous sensitivity secondary to X-linked protoporphyria. Case Description/Methods: An 18-year-old male presents with recurrent acneiform lesions on his back, neck, chest, and face along ...
Guivatchian, Elnaz, Jafri, Syed-Mohammed
core   +1 more source

Liver transplantation and primary liver cancer in porphyria

Liver International, Volume 45, Issue 3, March 2025.
Abstract The porphyrias are a heterogeneous group of metabolic disorders that result from defects in heme synthesis. The metabolic defects are present in all cells, but symptoms are mainly cutaneous or related to neuropathy. The porphyrias are highly relevant to hepatologists since patients can present with symptoms and complications that require liver
Mattias Lissing, Bruce Wang, Staffan Wahlin   +2 more
wiley   +1 more source