Associated Papers
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Okamura K et al.
The Journal of Dermatology, 2025
Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone.
Ono Y et al.
Internal Medicine (tokyo, Japan), 2024
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.
Hu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Arcot Sadagopan K et al.
Ophthalmic Genetics, 2023
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
Liu T et al.
Pigment Cell & Melanoma Research, 2021
Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report.
Kato Y et al.
Bmc Pulmonary Medicine, 2020
Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.
Uchida T et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
Speckled lentiginous nevus in a patient with Hermansky-Pudlak syndrome type 1.
Mai S et al.
The Journal of Dermatology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.
Ishihara J et al.
Bmc Gastroenterology, 2019
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.
Okamura K et al.
Pigment Cell & Melanoma Research, 2018
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Wei A et al.
Pigment Cell & Melanoma Research, 2016
Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.
Li N et al.
Experimental and Therapeutic Medicine, 2016
Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia.
Furuhashi K et al.
Internal Medicine (tokyo, Japan), 2014
The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
Wei A et al.
Journal of Dermatological Science, 2009
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Vincent LM et al.
Molecular Genetics and Metabolism, 2009
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
Ito S et al.
The Journal of Investigative Dermatology, 2005
Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1.
Natsuga K et al.
The Journal of Investigative Dermatology, 2005
Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene.
Kobashi Y et al.
Internal Medicine (tokyo, Japan), 2005
Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome.
Suzuki T et al.
Journal of Dermatological Science, 2004
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
Hermos CR et al.
Human Mutation, 2002
HPS gene mutations in Hermansky-Pudlak syndrome.
Spritz RA et al.
American Journal of Human Genetics, 1999
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism.
Arcot Sadagopan K et al.
Ophthalmic Genetics, 0