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Last Updated: 02/24/2026

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Found 1728 publications

Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report - Erratum.

Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report - Erratum.

Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
Published: January 01, 2026

Analysis of multi-trait evolution across independently evolved cavefish populations reveals shared and independent evolution of suites of cave-associated traits.

Analysis of multi-trait evolution across independently evolved cavefish populations reveals shared and independent evolution of suites of cave-associated traits.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation.

Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.

A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.

Journal: Therapeutic advances in respiratory disease
Published: November 24, 2025

Hermansky-Pudlak Syndrome.

Hermansky-Pudlak Syndrome.

Journal: Clinics in chest medicine
Published: October 19, 2025

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1).

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1).

Journal: Investigative ophthalmology & visual science
Published: October 08, 2025

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting.

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting.

Journal: Case reports in pediatrics
Published: October 07, 2025

TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.

TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.

Journal: Investigative ophthalmology & visual science
Published: October 01, 2025

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.

Journal: The Journal of dermatology
Published: September 29, 2025

Spontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.

Spontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.

Journal: bioRxiv : the preprint server for biology
Published: September 26, 2025

OCA2 deficiency enhances TPC2 channel activity to reduce melanosomal pH and pigment production.

OCA2 deficiency enhances TPC2 channel activity to reduce melanosomal pH and pigment production.

Journal: The Journal of investigative dermatology
Published: September 22, 2025

Correction to "A Case of Metastasis of Giant Basal Cell Carcinoma in Oculocutaneous Albinism".

Correction to "A Case of Metastasis of Giant Basal Cell Carcinoma in Oculocutaneous Albinism".

Journal: The Journal of dermatology
Published: September 09, 2025
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Last Updated: 02/24/2026