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A patient with TPCN2-related hypopigmentation and ocular phenotype.
Eur J Hum Genet
January 2025
Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.
View Article and Find Full Text PDFNanotherapy for Neural Retinal Regeneration.
Adv Sci (Weinh)
January 2025
Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology&Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Key Laboratory of Intelligent Diagnosis, Treatment and Prevention of Blinding Eye Diseases, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Retinal diseases can severely impair vision and even lead to blindness, posing significant threats to both physical and mental health. Physical retinal regenerative therapies are poised to revolutionize the treatment of various disorders associated with blindness. However, these therapies must overcome the challenges posed by the protective inner and outer blood‒retinal barriers.
View Article and Find Full Text PDFUnraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFSingle-cell sequencing in diabetic retinopathy: progress and prospects.
J Transl Med
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Department of Ophthalmology, Renmin Hospital of Wuhan University, Jiefang Road, Wuhan, Hubei, 430060, China.
Diabetic retinopathy is a major ocular complication of diabetes, characterized by progressive retinal microvascular damage and significant visual impairment in working-age adults. Traditional bulk RNA sequencing offers overall gene expression profiles but does not account for cellular heterogeneity. Single-cell RNA sequencing overcomes this limitation by providing transcriptomic data at the individual cell level and distinguishing novel cell subtypes, developmental trajectories, and intercellular communications.
View Article and Find Full Text PDFAntisense mediated blockade of Dickkopf 1 attenuates tumor survival, metastases and bone damage in experimental osteosarcoma.
Sci Rep
January 2025
Department of Medical Physiology, Texas A&M College of Medicine, Bryan, TX, 77807, USA.
Osteosarcoma (OS) is the most common primary bone malignancy. The canonical Wnt inhibitor Dickkopf-1 (Dkk-1) has been implicated in bone destruction, tumor survival and metastases during OS. We examined the role of Dkk-1 in OS disease progression and explored strategies for targeting its activity.
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