Results 51 to 60 of about 6,439 (248)

Hermansky-Pudlak syndrome

Muller Journal of Medical Sciences and Research, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma   +4 more
doaj   +1 more source

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]

, 2019
Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret, Berberovic, Zorana, Clary, Dave, Eskandarian, Mohammad, Flenniken, Ann M, International Mouse Phenotyping Consortium, Lloyd, KC Kent, McKerlie, Colin, Moore, Bret A, Moshiri, Ala, Moshiri, Ata S, Murphy, Christopher J, Newbigging, Susan, Nutter, Lauryl MJ, Owen, Celeste, Thomasy, Sara M   +15 more
core  

Automated Profiling of Social Behaviors to Assess the Genetic Basis of Evolution of Aggressive Behaviors in Astyanax mexicanus

Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, EarlyView.
ABSTRACT Across the animal kingdom, social behaviors such as aggression are critical for survival and reproductive success. While there is significant variation in social behaviors within and between species, the genetic mechanisms underlying natural variation in social behaviors are poorly understood.
Renee Mapa, Stefan Choy, Solomia Lapko, Allison Kimmel, Isabel Carino‐Bazan, Johanna E. Kowalko   +5 more
wiley   +1 more source

An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

Indian Journal of Ophthalmology, 2014
A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism ...
J Saravanan, A Rajendraprasad, S Priyadharshni   +2 more
doaj   +1 more source

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism

Frontiers in Genetics, 2021
BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene.
Linya Ma, Jianjian Zhu, Jing Wang, Yazhou Huang, Jibo Zhang, Chao Wang, Yuan Zhou, Dan Peng, Dan Peng   +8 more
doaj   +1 more source

Tricomegalia essencial: relato de caso [PDF]

, 2013
The present study reports two cases of symptomatic essential trichomegaly. Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, vernal keratoconjunctivitis,
Belfort, Rubens Junior, Muccioli, Cristina, Nascimento, Heloisa Moraes do, Rossetto, Julia Dutra   +3 more
core   +3 more sources

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood [PDF]

, 2018
Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes.
Brasch, F. (Frank), Griese, M. (Matthias), Grosse-Onnebrink, J. (Joerg), Guenther, A. (Andreas), Hengst, M. (Meike), Ley-Zaporozhan, J. (Julia), Mahavadi, P. (Poornima), Naehrlich, L. (Lutz), Reu, S. (Simone), Schuch, L.A. (Luise A.), Skanke, L.Hø. (Lars Høsøien), Terheggen-Lagro, S. (Suzanne)   +11 more
core   +5 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet, Clément Pruvot, Zoé Manssens, Wadih Abou‐Chahla, Sébastien Buche   +4 more
wiley   +1 more source