Results 41 to 50 of about 4,832 (184)

Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis) [PDF]

, 2017
Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain ...
Campbell, M. S., Cassidy, P. B., Chirife, A., Clayton, F. C., Eroh, G. D., Florell, S. R., Leachman, S. A., Maron, C. F., Rowntree, V. J., Seger, J., Valenzuela, L. O.   +10 more
core   +5 more sources

Hermansky Pudlak Syndrome Associated Pulmonary Fibrosis

Online Journal of Health & Allied Sciences, 2022
Hermansky-Pudlak syndrome (HPS) was first described by Dr. Frantisek Hermansky and Dr. Paulus Pudlak in 1959. HPS is relatively common in Puerto Rico, in the north-western region of the island.
Navakumar Manickam, Kannan Gopalan, Vandhana Manoharan, Seethalakshmi Ganga Vellaisamy   +3 more
doaj  

Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics

Frontiers in Pharmacology, 2021
Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis.
Pamela Velázquez-Díaz, Erika Nakajima, Parand Sorkhdini, Ashley Hernandez-Gutierrez, Adam Eberle, Dongqin Yang, Yang Zhou   +6 more
doaj   +1 more source

Making the invisible visible [PDF]

, 2016
In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from ...
Ando, Attié, Badolato, Barnett, Basmanav, Betz, Bin, Boissy, Bondurand, Bultema, Byers, Clark, Courcet, Cui, Cullinane, Cullinane, Dauphinee, Dell’Angelica, Di Pietro, Edery, Fischer, Gerondopoulos, Giebel, Giebel, Helip-Wooley, Hume, Hume, Iqbal, Ji, Kono, Kumano, Lee, Li, Lugassy, Lugassy, Luzio, Maurice A.M. van Steensel, McGlinchey, Miyamura, Murphy, Ménasché, Ménasché, Nagle, Newton, Olivares, Pastural, Pingault, Planko, Potterf, Puri, Qiu, Sato-Jin, Sckolnick, Sepulveda, Setty, Singh, Sitaram, Sánchez-Martín, Tassabehji, Tassabehji, Theos, Uttam, Vachtenheim, Van Raamsdonk, Van Steensel, Van Steensel, Weber, Wei, Wilson, Winder, Wu, Yamaguchi, Zazo Seco, Zhang, Zucca   +74 more
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Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. [PDF]

, 2016
Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants.
Greene, Daniel, NIHR BioResource, Richardson, Sylvia, Turro, Ernest   +3 more
core   +8 more sources

A Role of Phosphatidylserine in the Function of Recycling Endosomes

Frontiers in Cell and Developmental Biology, 2021
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 ...
Junya Hasegawa, Yasunori Uchida, Kojiro Mukai, Shoken Lee, Tatsuyuki Matsudaira, Tomohiko Taguchi   +5 more
doaj   +1 more source

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis [PDF]

, 2015
Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management.
Abboud, Miguel, Akar, Himmet Haluk, Belen, Burcu, Ben Bdira, Eya, Bryceson, Yenan T., Chiang, Samuel C. C., Devecioglu, Omer, Erichsen, Hans Christian, Fadoo, Zehra, Henter, Jan-Inge, Hästbacka, Johanna, Kaya, Zuhre, Lagerstedt-Robinson, Kristina, Meeths, Marie, Mottonen, Merja, Nordenskjold, Magnus, Nunes, Susana, Patiroglu, Turkan, Sabel, Magnus, Saribeyoglu, Ebru Tugrul, Tesi, Bianca, Tvedt, Tor Henrik, Unal, Ekrem, Unal, Sule, Unuvar, Aysegul, Yeoh, Allen E. J.   +25 more
core   +3 more sources

Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish [PDF]

, 2018
Hermansky-Pudlak syndrome (HPS) is a human autosomal recessive disorder that is characterized by oculocutaneous albinism and a deficiency of the platelet storage pool resulting from defective biogenesis of lysosome-related organelles (LROs).
Chen, Tianbing, Cui, Zongbin, Huang, Kaiyao, Mao, Lin, Song, Guili, Yang, Huihui   +5 more
core   +1 more source

Hermansky Pudlak Syndrome Type 2:A Rare Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2020
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by Oculocutaneous Albinism (OCA), platelet disorder, and ceroid accumulation. It is common in North West Puerto Rico region, and the incidence reported is 1/500000.
Yogesh Chhaparwal , Mathangi Kumar, Shubha Chhaparwal   +2 more
doaj  

Genetic variants associated with Hermansky-Pudlak syndrome

Platelets, 2020
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico   +5 more
doaj   +1 more source