Results 61 to 70 of about 4,782 (148)

A Case of Hermansky–Pudlak Syndrome

Journal of Association of Pulmonologist of Tamil Nadu
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There
A. Vasudevan, Gayathri Devi Anur Ramakrishnan   +1 more
doaj   +1 more source

Generation of Hermansky–Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs)

Stem Cell Research, 2016
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by deficiencies in lysosome-related organelles such as melanosomes and platelet-dense granules. The disorder is classified into nine different subtypes (HPS1–HPS9) based
Jean Ann Maguire, Lin Lu, Jason A. Mills, Lisa M. Sullivan, Alyssa Gagne, Paul Gadue, Deborah L. French   +6 more
doaj   +1 more source

Mutational spectrum of the AP3B1 gene in an Iraqi family affected with Hermansky–Pudlak syndrome type 2

Egyptian Journal of Medical Human Genetics, 2023
Background Hermansky–Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive inherited disease present with partial oculocutaneous albinism, nystagmus, prolonged bleeding time, and immunodeficiency. Case presentation We aimed at identifying a genetic
Mostafa Neissi, Adnan Issa Al-Badran
doaj   +1 more source

Melanosomes at a glance [PDF]

, 2008
Melanosomes, the pigment granules that provide tissues with colour and photoprotection, are the cellular site of synthesis, storage and transport of melanin pigments.
Bolasco, G., Hume, AN., Seabra, MC., Wasmeier, C.   +3 more
core   +2 more sources

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A ...
Raghad N. Shihab, Rusul Thabit Hamid, Mostafa Neissi, Javad Mohammadi‐Asl, Motahareh Sheikh‐Hosseini, Elaheh Nekouei   +5 more
wiley   +1 more source

New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient

Reports, 2019
The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in HPS1-10 and their related genes, comprising the biogenesis of lysosome-related organelles complex 1 ...
Shinya Kato, Tsugumi Aoe, Akie Hamamoto, Hiroshi Takemori, Toshiya Nishikubo   +4 more
doaj   +1 more source

Molecular and clinical characterization of albinism in a large cohort of Italian patients. [PDF]

, 2011
PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.
Ciccodicola, A, de Berardinis, T, Di Iorio, V, FAZZI, Elisa Maria, Fecarotta, S, Fossarello, M, Galantuomo, Ms, Gargiulo, A, Iovine, A, Macaluso, C, Magli, A, Montefusco, S, Neri, A, Rossi, S, Signorini, S, Simonelli, F, Surace, Em, Testa, F   +17 more
core   +2 more sources

HERMANSKY-PUDLAK SYNDROME AND GRANULOMATOUS BOWEL INFLAMMATION – REVIEW ARTICLE AND CASE REPORT

Slovenska pediatrija, 2022
Hermansky-Pudlak syndrome (HPS) is a very rare genetically and phenotypically heterogeneous multisystemic disorder. It is mainly caused by impaired trafficking to lysosome-related organelles. Eleven genetic subtypes of HPS are currently recognised.
Urška Berden, Lidija Kitanovski, Darja Urlep   +2 more
doaj   +1 more source

Amiodarone-Induced Pulmonary Toxicity - A Frequently Missed Complication. [PDF]

, 2016
IntroductionAmiodarone is often used in the suppression of tachyarrhythmias. One of the more serious adverse effects includes amiodarone pulmonary toxicity (APT).
Dang, Natasha, Datta, Jyoti, Lam, Vinh, Singh, Navneet K, Sweidan, Alexander J   +4 more
core   +2 more sources