Search Our Scientific Publications & Authors

Genes (Basel) 2022 Jun 16;13(6). Epub 2022 Jun 16.

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 75471, Aljouf, Saudi Arabia.

Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination. Read More

Respir Res 2022 Jun 23;23(1):167. Epub 2022 Jun 23.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by improper biogenesis of lysosome-related organelles (LROs). Lung fibrosis is the leading cause of death among adults with HPS-1 and HPS-4 genetic types, which are associated with defects in the biogenesis of lysosome-related organelles complex-3 (BLOC-3), a guanine exchange factor (GEF) for a small GTPase, Rab32. LROs are not ubiquitously present in all cell types, and specific cells utilize LROs to accomplish dedicated functions. Read More

Prog Retin Eye Res 2022 Jun 18:101091. Epub 2022 Jun 18.

Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Emma Center for Personalized Medicine (ECPM), Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Department of Ophthalmology, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, the Netherlands. Electronic address:

Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. Combining our data with those of the literature, we propose a single functional genetic retinal signalling pathway that includes all 22 currently known human albinism disease genes. Read More

Intern Med 2022 Jun 7. Epub 2022 Jun 7.

Department of Respiratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, Japan.

A 26-year-old Japanese woman was admitted with a 1-month history of diarrhea, a high fever for a few days, and exacerbation of dyspnea. She was treated with an antifibrotic drug and long-term oxygen therapy for Hermansky-Pudlak syndrome-related pulmonary fibrosis. New ground-glass attenuation appeared on chest computed tomography (CT), and a colon biopsy showed an inflammatory cell accumulation with a high titer of myeloperoxidase (MPO)-specific anti-neutrophil cytoplasmic antibodies (ANCA). Read More

J Osteopath Med 2022 Jun 8. Epub 2022 Jun 8.

KCU-GME Advanced Dermatology and Cosmetic Surgery, Oviedo, FL, USA.

Respir Res 2022 May 4;23(1):112. Epub 2022 May 4.

Human Biochemical Genetics Section, National Human Genome Research Institute (NHGRI), National Institute of Health (NIH), Bethesda, MD, 20892, USA.

Background: HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF). Hps1 (pale ear) is a naturally occurring HPS-1 mouse model that exhibits high sensitivity to bleomycin-induced pulmonary fibrosis (PF). Traditional methods of administering bleomycin as an intratracheal (IT) route to induce PF in this model often lead to severe acute lung injury and high mortality rates, complicating studies focusing on pathobiological mechanisms or exploration of therapeutic options for HPSPF. Read More

Cancers (Basel) 2022 Mar 30;14(7). Epub 2022 Mar 30.

School of Molecular Biosciences, Washington State University Vancouver, Vancouver, WA 98686, USA.

Melanin is the pigment that protects DNA from ultraviolet (UV) damage by absorbing excess energy. Melanin is produced in a process called melanogenesis. When melanogenesis is altered, diseases such as albinism result. Read More

Transplant Direct 2022 Apr 23;8(4):e1303. Epub 2022 Mar 23.

Lung Transplant Program, Columbia University Irving Medical Center, NewYork-Presbyterian Hospital, New York, NY.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage defect with resultant bleeding diathesis, and pulmonary fibrosis. The bleeding diathesis associated with HPS had long been considered a contraindication to lung transplantation; consequently, few reports of successful lung transplantation for HPS exist.

Methods: In the largest case series on lung transplant for HPS, we describe the characteristics of 11 lung transplant candidates with HPS-related pulmonary fibrosis, and the management and outcomes of 7 patients who underwent lung transplantation. Read More

Front Cell Dev Biol 2021 17;9:743124. Epub 2022 Feb 17.

Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Rare Disease Center, National Center for Children's Health, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, Beijing, China.

The Weibel-Palade body (WPB) is one of the lysosome-related organelles (LROs) in endothelial cells, whose main content is von Willebrand factor (vWF). The biogenesis of LROs is regulated by the Hermansky-Pudlak syndrome (HPS) protein-associated complexes through transporting cargo proteins to WPBs. Our previous studies have shown that HPS6, a subunit of BLOC-2 complex, is likely involved in the maturation of WPBs. Read More

J Vis Exp 2022 02 12(180). Epub 2022 Feb 12.

Department of Microbiology and Cell Biology, Indian Institute of Science, Bangalore KA 560012, India;

Recycling endosomes (REs) are tubular-vesicular organelles generated from early/sorting endosomes in all cell types. These organelles play a key role in the biogenesis of melanosomes, a lysosome-related organelle produced by melanocytes. REs deliver the melanocyte-specific cargo to premature melanosomes during their formation. Read More

Pediatr Allergy Immunol 2022 02;33(2):e13748

Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.

Ophthalmology 2022 06 11;129(6):708-718. Epub 2022 Feb 11.

Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, Tübingen, Germany; Foveal Development Investigators Group.

Purpose: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH).

Design: Multicenter, observational study.

Participants: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). Read More

Liver Int 2022 04 15;42(4):864-870. Epub 2022 Feb 15.

Precision Medicine - Department of Transfusion Medicine and Hematology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, Milan, Italy.

Liver diseases remain unexplained in up to 30% of adult patients; genetic analysis could help establish the correct diagnosis. In six adult patients with cryptogenic liver disease, we performed whole-exome sequencing (WES) and evaluated the individual predisposition to progressive fatty liver disease by polygenic risk scores (PRS). In one patient, WES was allowed to diagnose the Hermansky-Pudlak syndrome. Read More

Pigment Cell Melanoma Res 2022 05 13;35(3):290-302. Epub 2022 Feb 13.

Department of Dermatology, Tongren Hospital, Capital Medical University, Beijing, China.

Hermansky-Pudlak syndrome (HPS) is characterized by defects of multiple tissue-specific lysosome-related organelles (LROs), typically manifesting with oculocutaneous albinism or ocular albinism, bleeding tendency, and in some cases with pulmonary fibrosis, inflammatory bowel disease or immunodeficiency, neuropsychological disorders. Eleven HPS subtypes in humans and at least 15 subtypes in mice have been molecularly identified. Current understanding of the underlying mechanisms of HPS is focusing on the defective biogenesis of LROs. Read More

Front Pharmacol 2021 19;12:786937. Epub 2022 Jan 19.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.

Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. Interestingly, patients with HPS type 2 (HPS-2) or HPS type 10 (HPS-10) present additionally with an immunological defect. We investigated three patients (IP1, IP2, and IP3) who suffer from a bleeding diathesis. Read More

Life (Basel) 2021 Dec 23;12(1). Epub 2021 Dec 23.

Center of Excellence in Genomic Medicine Research, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.

Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of low or missing pigmentation in the eyes, hair, and skin. Multiple types of OCA, including Hermansky-Pudlak syndrome 6 (), are distinguished by their genetic cause and pigmentation pattern. is characterized by OCA, nose bleeding due to platelet dysfunction, and lysosome storage defect. Read More

Front Cell Dev Biol 2021 24;9:783857. Epub 2021 Dec 24.

Department of Health Chemistry, Graduate School of Pharmaceutical Sciences, University of Tokyo, Tokyo, Japan.

Cells internalize proteins and lipids in the plasma membrane (PM) and solutes in the extracellular space by endocytosis. The removal of PM by endocytosis is constantly balanced by the replenishment of proteins and lipids to PM through recycling pathway. Recycling endosomes (REs) are specific subsets of endosomes. Read More

J Eur Acad Dermatol Venereol 2022 Apr 31;36(4):536-546. Epub 2021 Dec 31.

Department of Dermatology, University of California Irvine, Irvine, CA, USA.

Long eyelashes have been popularized and many commercially available products exist to achieve eyelash growth as a desired cosmetic effect. Eyelash trichomegaly may be induced by medications, procedures, or be related to medical conditions; however, the exact mechanisms that govern eyelash growth are not well elucidated. This study aims to identify and summarize aetiologies associated with eyelash trichomegaly. Read More

Acta Chim Slov 2021 Sep;68(3):683-692

Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much as 20 out of 25 patients, genetic variants explaining their clinical phenotype were identified. Read More

Ann Coloproctol 2021 Nov 19. Epub 2021 Nov 19.

Department of General Surgery, Marmara University School of Medicine, Istanbul, Turkey.

Hermansky-Pudlak syndrome (HPS) is a rare genetic disease consisting of the triad of oculocutaneous albinism, bleeding diathesis, and pigmented reticuloendothelial cells. In HPS patients' granulomatous colitis could be an additional feature and perianal abscess could be seen in such patients. We report a patient with HPS-associated granulomatous colitis, refractory to medical treatment, and perianal involvement. Read More

Respir Res 2021 Nov 4;22(1):284. Epub 2021 Nov 4.

Department of Drug Discovery for Lung Diseases, Graduate School of Medicine, Kyoto University, Yoshida Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan.

Background: Somatic cells differentiated from patient-specific human induced pluripotent stem cells (iPSCs) could be a useful tool in human cell-based disease research. Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder characterized by oculocutaneous albinism and a platelet dysfunction. HPS patients often suffer from lethal HPS associated interstitial pneumonia (HPSIP). Read More

Cells 2021 10 1;10(10). Epub 2021 Oct 1.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.

Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features. The genes associated with HPS encode for different BLOC- (biogenesis of lysosome-related organelles complex) complexes and for the AP-3 (adaptor protein-3) complex, respectively. These proteins are involved in maturation, trafficking, and the function of lysosome-related organelles (LROs) such as melanosomes and platelet δ-granules. Read More

Biomed Res Int 2021 24;2021:4535349. Epub 2021 Sep 24.

Departments of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, 050051, China.

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder with an autosomal recessive inherited pattern. It is mainly characterized by deficiencies in lysosome-related organelles, such as melanosomes and platelet-dense granules, and leads to albinism, visual impairment, nystagmus, and bleeding diathesis. A small number of patients will present with granulomatous colitis or fatal pulmonary fibrosis. Read More

mBio 2021 10 21;12(5):e0099421. Epub 2021 Sep 21.

Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Polyphosphates (polyP) are energy-rich polymers of inorganic phosphates assembled into chains ranging from 3 residues to thousands of residues in length. They are thought to exist in all cells on earth and play roles in an eclectic mix of functions ranging from phosphate homeostasis to cell signaling, infection control, and blood clotting. In the budding yeast Saccharomyces cerevisiae, polyP chains are synthesized by the vacuole-bound vacuolar transporter chaperone (VTC) complex, which synthesizes polyP while simultaneously translocating it into the vacuole lumen, where it is stored at high concentrations. Read More

Cold Spring Harb Mol Case Stud 2021 10 19;7(5). Epub 2021 Oct 19.

Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri 64108, USA.

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism and variable pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The diagnosis relies on clinical findings, platelet transmission electron microscopy studies showing absent dense granules, or the identification of a pathogenic genotype in one of 11 associated genes, including We report a 2-wk-old male with significant iris transillumination defects, a pale fundus, and mild corectopia found by clinical exome sequencing to have a previously reported pathogenic variant, c.972dupC p. Read More

Genes (Basel) 2021 07 19;12(7). Epub 2021 Jul 19.

Laboklin GmbH&Co.KG, Steubenstraße 4, 97688 Bad Kissingen, Germany.

A nonsense variant in , c.2420G>A or p.Trp807*, was recently discovered as the cause for a brown coat color termed cocoa in French Bulldogs. Read More

J Hered 2021 08;112(5):443-446

Department of Animal Sciences, UF Genetics Institute, University of Florida, 2250 Shealy Dr, Gainesville, FL, USA.

Chestnut coat color in horses is determined by a missense mutation within the MC1R gene. However, the intensity of the chestnut color can vary widely within individuals possessing this genotype. Here, we investigated this variation using standardized photographs of 96 horses. Read More

Clin Transl Med 2021 07;11(7):e471

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder which, in its most common and severe form, HPS-1, leads to fatal adult-onset pulmonary fibrosis (PF) with no effective treatment. We evaluated the role of the endocannabinoid/CB R system and inducible nitric oxide synthase (iNOS) for dual-target therapeutic strategy using human bronchoalveolar lavage fluid (BALF), lung samples from patients with HPS and controls, HPS-PF patient-derived lung fibroblasts, and bleomycin-induced PF in pale ear mice (HPS1 ). We found overexpression of CB R and iNOS in fibrotic lungs of HPSPF patients and bleomycin-infused pale ear mice. Read More

J AAPOS 2021 08 17;25(4):220.e1-220.e8. Epub 2021 Jul 17.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.

Purpose: To present a series of patients diagnosed with oculocutaneous albinism (OCA) based on clinical presentation who were later proven to have a different diagnosis.

Methods: The medical records of patients seen at the Pediatric Inherited Eye Disease Clinic of the University of Iowa from 1980 to 2018 who were eventually discovered to have an incorrect diagnosis of OCA were reviewed retrospectively.

Results: Eight pediatric patients presenting with clinical features suggestive of OCA which changed to a different diagnosis over time were identified. Read More

Front Med (Lausanne) 2021 15;8:607720. Epub 2021 Jun 15.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

Pulmonary fibrosis is characterized by abnormal interstitial extracellular matrix and cellular accumulations. Methods quantifying fibrosis severity in lung histopathology samples are semi-quantitative, subjective, and analyze only portions of sections. We sought to determine whether automated computerized imaging analysis shown to continuously measure fibrosis in mice could also be applied in human samples. Read More