Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants [0.03%]
日本白化病的更新分析：290个家系中的新型致病变异
Ken Okamura,Toru Saito,Naoki Oiso et al.
Ken Okamura et al.
We present an updated analysis of albinism in Japan, encompassing both oculocutaneous albinism (OCA) and ocular albinism (OA), based on 290 families, which expands our previous study by 100 additional families. The overall frequency distrib...
SASH1 Modulates Melanin Synthesis and Melanoma Cell Metastasis via Suppression of the TGF-β Signaling Pathway [0.03%]
SASH1通过抑制TGF-β信号通路调节黑色素合成和黑色素瘤细胞转移
Hongzhou Cui,Jianhua Hao,Qiong Wang et al.
Hongzhou Cui et al.
Dyschromatosis universalis hereditaria (DUH) is characterized by autosomal dominant inheritance and widespread involvement of hyperpigmentation and depigmentation. In our previous study, we identified mutations in the SH3 domain-containing ...
PD-1/PD-L1 Checkpoint Dysfunction in Vitiligo: Novel Pathogenic Insights and Therapeutic Innovation [0.03%]
白癜风中PD-1 / PD-L1检查点功能障碍：新的病理学见解和治疗创新
Heba Ahmed,Hanan R Nada,Ahmed Mourad et al.
Heba Ahmed et al.
Vitiligo, a chronic autoimmune disorder characterized by progressive melanocyte destruction, remains challenging to treat due to an incomplete understanding of underlying immune mechanisms. Recent clinical observations from cancer immunothe...
Combination of the Novel RAF Dimer Inhibitor Brimarafenib With the MEK Inhibitor Mirdametinib Is Effective Against NRAS Mutant Melanoma [0.03%]
新型RAF二聚体抑制剂Brimarafenib与MEK抑制剂Mirdametinib联合用药对NRAS突变黑色素瘤有效
Flavia L Tellenbach,Luzia Seiler,Mark Johnson et al.
Flavia L Tellenbach et al.
Metastatic melanoma, the most aggressive form of skin cancer, accounts for the majority of skin cancer-related deaths. While targeted kinase inhibitors have improved outcomes for patients with BRAF-mutated melanomas, their efficacy is often...
CPT1B-Mediated Fatty Acid Oxidation Induces Pigmentation in Solar Lentigo [0.03%]
CPT1B介导的脂肪酸氧化诱导太阳色斑形成
Yueun Choi,Uijeong Nam,Jihan Kim et al.
Yueun Choi et al.
Cellular senescence is associated with altered lipid metabolism, including increased cellular lipid uptake, upregulated lipid biosynthesis, and deregulated lipid breakdown. Previous studies have reported that carnitine palmitoyltransferase ...
An Integrated Investigation of SOX10 in Feather Color in Domestic Rock Pigeon (Columba livia) [0.03%]
家岩鸽(SOX10在家禽羽毛颜色中的综合调查)
Eric T Domyan,Shannon Baker,Whitney Brownlee et al.
Eric T Domyan et al.
The transcription factor SOX10 plays an important role in promoting determination and differentiation of melanocytes, and mutations affecting SOX10 expression or function often result in dramatic pigment phenotypes. In domestic rock pigeon,...
Pavel Pospíšil,Vendula Paculová,Ankush Prasad et al.
Pavel Pospíšil et al.
Chemiexcitation, the formation of electronically excited states via oxidative chemical reactions, has emerged as a potentially important contributor to skin photobiology beyond direct damage caused by ultraviolet (UV) radiation. This study ...
Proceeding Report of the Sixth Vitiligo International Symposium-December 13-15, 2024, Cairo, Egypt [0.03%]
第六届白癜风国际研讨会报告（2024年12月13日至15日，埃及开罗）
Samia Esmat,Marwa Abdallah,Dalia Bassiony et al.
Samia Esmat et al.
This article highlights the most recent updates in vitiligo that were presented in the sixth Vitiligo International Symposium, which was held in Cairo, Egypt from 13 to 15 December 2024. During this conference, worldwide vitiligo experts sh...
The Incorporation of Melanosomes by Senescent Keratinocytes Causes the Accumulation of Melanin due to Decreased Energy Metabolism [0.03%]
衰老角质形成细胞通过能量代谢下降摄取黑色素体导致黑色素沉积
Hiroko Yamazaki,Hideya Ando
Hiroko Yamazaki
In solar lentigo, a typical age-related pigmentary disorder of the skin, abundant melanin is deposited in the basal layer of keratinocytes and not spontaneously eliminated. The reason for the prolonged melanin accumulation in keratinocytes ...
Fusion Gene Detection in Driver Mutation-Negative Melanomas Using RNA-Based Anchored Multiplex Polymerase Chain Reaction [0.03%]
基于RNA的锚定多重聚合酶链反应在驱动基因阴性黑色素瘤中检测融合基因
Tokimasa Hida,Masashi Idogawa,Sayuri Sato et al.
Tokimasa Hida et al.
Advanced melanoma is typically treated with immune checkpoint inhibitors (ICIs) and targeted therapies. However, their efficacy is limited in acral and mucosal melanomas, which are more prevalent in non-White populations and often exhibit l...