Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism [0.03%]
基于合子分析OCA2变异在曲菌素皮肤眼睛 albinism中的作用
Meredith F Gillis,Madeleine R Ames,Linnea Lundh et al.
Meredith F Gillis et al.
OCA2, a melanosome transmembrane spanning protein, functions to regulate melanosomal pH, optimizing production of melanin pigment. OCA2 is one of eight non-syndromic autosomal recessive oculocutaneous albinism (OCA) loci and is the second m...
A Short Report on Melanocyte/Melanoma Culture, Senescence, and Reproducibility [0.03%]
黑素细胞/黑色素瘤培养、衰老和重复性的简短报告
Lionel Larue;ESPCR Working Group;Duarte C Barral,Veronique Delmas,Sara Egea-Rodriguez et al.
Lionel Larue;ESPCR Working Group;Duarte C Barral et al.
At the 2025 ESPCR (European Society for Pigment Cell Research) meeting in Erlangen, a workshop on "Pigment Cell Models: Sensitivity, Innovation, and the Challenges of Cell Culture" brought together researchers to discuss technical, methodol...
QUILPEN Provides Independent and Label-Free Single-Cell Quantification of Pigmentation Dynamics and Organelle Content [0.03%]
QUILPEN提供独立且无标签的单细胞色素动力学和细胞器含量定量方法
Rebecca G Zitnay,Shukran Alizada,Tarek E Moustafa et al.
Rebecca G Zitnay et al.
The relationship between melanogenesis, pigmentation, and melanocyte behavior is complex. In melanocytes, pigmentation is often associated with differentiation, yet mature melanocytes vary in pigment content. In melanoma, pigmentation-linke...
Epidermotropic Metastatic Melanoma Presenting as Eruptive Primary Melanomas [0.03%]
呈现在皮的转移性黑色素瘤表现为爆发性原发性黑色素病
Jennifer Strong,Mitchell J Winkie,Patrick Hallaert et al.
Jennifer Strong et al.
We report on the use of molecular profiling to diagnose epidermotropic metastatic melanoma (EMM) in a patient who presented with eruptive primary melanomas. On histopathology, the patient's metastatic lesions resembled superficial spreading...
Independent BRAF Fusion Genes Cause Pigmented Nevi in Ring Chromosome 7 Syndrome [0.03%]
独立的BRAF融合基因可导致7号环状染色体综合征患者的皮色素斑(nevus)
Akira Miyazaki,Takuya Takeichi,Mai Ota et al.
Akira Miyazaki et al.
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma [0.03%]
CDKN2A阴性儿童和青少年肢端 melanoma 的罕见胚系变异
Peter A Johansson,Jane M Palmer,Linh T Bui-Raborn et al.
Peter A Johansson et al.
Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a significant role, involving a combination of high-, intermediate- and low-penetrance genes. Melanoma in children ...
Recent Advances in Systemic Biomarkers for Immunotherapy in Advanced and Metastatic Melanoma [0.03%]
晚期和转移性黑色素瘤免疫治疗的系统生物标志物最新进展
Chih-Yi Ho,Yu-Wen Cheng,Yang-Yi Chen
Chih-Yi Ho
Immune checkpoint inhibitor (ICI) therapy has been widely utilized across various cancer types, including melanoma. It has emerged as a first-line treatment option for metastatic melanoma. By targeting checkpoint proteins such as programmed...
Defining Important Aspects of Repigmentation in Vitiligo: Insights From Patients' Perspectives [0.03%]
从患者的角度看白癜复色的定义及重要性
Jolien Duponselle,Marlide R Jukema,Nicoline van Buchem-Post et al.
Jolien Duponselle et al.
Repigmentation is an essential outcome in vitiligo assessment, yet it remains broadly defined. While perspectives from vitiligo experts have been explored, gaining insights from patients is crucial for a more comprehensive understanding. Ul...
Extreme Tumor Mutational Burden Predicts Near-Curative Outcomes With Checkpoint Immunotherapy in Melanoma: Half the Eligible, Half the Cure [0.03%]
极高的肿瘤突变负荷可预测黑色素瘤患者使用免疫检查点抑制剂后近乎治愈的预后：仅有一半符合条件的病人接受了这种疗法，从而得到治愈的机会
Ming Zheng
Ming Zheng
Tumor-mutational burden (TMB) is a mechanistic surrogate of neo-antigen load and thus a plausible biomarker for response to immune checkpoint blockade (ICB). In melanoma, however, the extreme right tail of the mutational spectrum, known as ...