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眼皮肤或眼白化病

Oculocutaneous or ocular albinism

ORPHA:98706疾病组中国目录 第1批 · 2

近两年的全球研究 1,301L2

2024/08 起在 Europe PMC 检索所得,按发表时间倒序显示最近 20 篇。本病的检索词较宽泛,命中数可能偏高,请以标题为准。标题未译成中文——自动翻译需要接入 LLM 服务,尚未引入。

  • 2026-08
    A Reproducible Electroporation Strategy for CRISPR-Cas9 RNP and mRNA Delivery in Fish Embryos
    Marine biotechnology (New York, N.Y.) · DOI · Europe PMC
  • 2026-07
    Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing
    European journal of human genetics : EJHG · DOI · Europe PMC
  • 2026-07
    The Role of SLC24A5 (NCKX5) in Human Skin Pigmentation: The Importance of Cation Transport Activity
    Journal of molecular biology · DOI · Europe PMC
  • 2026-07
    Transcriptomic analyses link changes in gene expression to defects in pigment cell differentiation and eye morphogenesis in a zebrafish model for Oculocutaneous Albinism Type 2
    Developmental biology · DOI · Europe PMC
  • 2026-07
    Air pollution and autism-like traits: Sensitive periods and joint effects of exposure to sources and constituents of fine particulate matter
    Environmental research · DOI · Europe PMC
  • 2026-07
    Spots All Over: Records of Piebaldism in Red-Tailed Squirrel <i>Syntheosciurus granatensis</i> in Northwestern Ecuador
    Ecology and evolution · DOI · Europe PMC
  • 2026-07
    Pseudo-Choroidal Melanocytosis in Birdshot Chorioretinitis: A Case Series from a Prospective Cohort
    Ocular immunology and inflammation · DOI · Europe PMC
  • 2026-07
    The relationship between foveal anatomy and retinal function in oculocutaneous albinism
    Documenta ophthalmologica. Advances in ophthalmology · DOI · Europe PMC
  • 2026-07
    A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish
    Pigment cell & melanoma research · DOI · Europe PMC
  • 2026-07
    Re-Identification of the Panamanian Guna/Kuna/Cuna OCA2 Founder Association Through Two American-Born Siblings
    American journal of medical genetics. Part A · DOI · Europe PMC
  • 2026-07
    Acute hydrops in late-presentation keratoconus associated with oculocutaneous albinism
    BMJ case reports · DOI · Europe PMC
  • 2026-07
    Atypical Fundus in X-Linked Ocular Albinism With GPR143 Variant
    JAMA ophthalmology · DOI · Europe PMC
  • 2026-06荟萃分析系统综述综述
    Skin cancer and actinic keratosis in people with albinism: a systematic review and meta-analysis
    Anais brasileiros de dermatologia · DOI · Europe PMC
  • 2026-06
    Congenital grouped albinotic spots of the retinal pigment epithelium-a case report
    Documenta ophthalmologica. Advances in ophthalmology · DOI · Europe PMC
  • 2026-06
    Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report
    Turkish journal of anaesthesiology and reanimation · DOI · Europe PMC
  • 2026-06
    Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders
    JCI insight · DOI · Europe PMC
  • 2026-06病例报告
    <i>OCA2</i> common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic
    Molecular genetics and metabolism reports · DOI · Europe PMC
  • 2026-06开放获取
    Familial p.(Ala73Thr) Variant in <i>GNB2</i> Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma
    Clinical case reports · DOI · Europe PMC
  • 2026-06开放获取
    Multi-omic analysis of deep learning-derived phenotypes links ophthalmic imaging to cardiovascular and neurological traits
    Nature cardiovascular research · 被引 1 · DOI · Europe PMC
  • 2026-06
    Melanin Deficiency Is Associated with Immune Homeostasis in the Critically Endangered Yangtze Sturgeon (<i>Acipenser dabryanus</i>)
    International journal of molecular sciences · DOI · Europe PMC

在中国开展的临床试验 3L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实,并与主治医生商量。

当前没有检索到登记为可入组的试验。

宽泛匹配的在招试验(3 项)

这些试验只被更宽泛的病名命中(例如用「帕金森病」检索「青年型帕金森病」),很可能并不针对本病。逐条看标题再判断。

  • 尚未开始招募宽泛匹配NCT05970900
    Preoperative Imatinib Mesylate Combined With Rectal-sparing Surgery in Patients With c-KIT Gene-mutant Rectal GIST
    III 期 · 干预性 · 2023/10/01Fujian Medical University Union Hospital
    中国研究中心 1 个:Fuzhou
  • 招募中宽泛匹配NCT07559864
    Comparing Regorafenib Combined With Envafolimab to Physician's Choice in Patients With Metastatic Gastrointestinal Stromal Tumors Harboring KIT Exon 17 Mutations Refractory to Standard Treatment
    II 期 · 干预性 · 2025/07/14Jian Li
    中国研究中心 1 个:Beijing
  • 招募中宽泛匹配NCT07313618
    Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)
    早期 I 期 · 干预性 · 2025/12/22West China Hospital
    中国研究中心 1 个:Chengdu

外部标识与链接

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
  • 中文病名:Orphanet 中文包,冻结于 2020-06-01
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)