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Last Updated: 01/07/2026

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Found 1721 publications

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

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

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

Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.

Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.

Journal: Therapeutic advances in respiratory disease
Published: September 08, 2025

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Journal: Pigment cell & melanoma research
Published: September 05, 2025

A novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.

A novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.

Journal: Molecular biology reports
Published: August 22, 2025
Showing 1-12 of 1,721

Last Updated: 01/07/2026