Zobrazeno 1 - 10
of 150
pro vyhledávání: '"platelet with granules"'
Autor:
Vanessa M.A. Woods, Lisette J. Latorre-Rey, Franziska Schenk, Marcel G.E. Rommel, Thomas Moritz, Ute Modlich
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 27, Iss , Pp 774-786 (2022)
Platelets are anucleate blood cells that are shed from megakaryocytes (MKs) into the bloodstream to maintain hemostasis and promote wound healing after vascular injury. To carry out their functions, platelets become activated and release bioactive su
Externí odkaz:
https://doaj.org/article/426d508b45ff45f785edcba6b6c9e530
Autor:
Anna Lecchi, Silvia La Marca, Eti A Femia, Antonia Lenz, Doris Boeckelmann, Andrea Artoni, Flora Peyvandi, Barbara Zieger
Publikováno v:
Platelets, Vol 31, Iss 7, Pp 960-963 (2020)
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human HPS genes, characterized by oculocutaneous albinism (OCA) and bleeding diathesis associated to platelet δ-storage pool defect (SPD). We report a cas
Externí odkaz:
https://doaj.org/article/f4ac22932f4545faacc47745185a9f98
Autor:
Manisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, Lieven Lagae, Daniel Greene, Chantal Thys, Chris Van Geet, NIHR BioResource, Kathleen Stirrups, Kate Downes, Ernest Turro, Kathleen Freson
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 9-16 (2019)
Abstract Background Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in SLC18A2, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoa
Externí odkaz:
https://doaj.org/article/fc61d66386ba4d82840c3f4a32dfd91f
Akademický článek
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Publikováno v:
Alʹmanah Kliničeskoj Mediciny, Vol 0, Iss 30, Pp 83-87 (2016)
Apheresis and pooled platelet concentrates, stored at 22°C during 5 days, were studied with morho-functional platelet rate analysis, based on vital cell staining and registration with fluorescent microscope. It was revealed that apheresis and pooled
Externí odkaz:
https://doaj.org/article/0822f60e7124405d9b1bdc26e405983b
Publikováno v:
Research and Practice in Thrombosis and Haemostasis
Research and Practice in Thrombosis and Haemostasis, Vol 3, Iss 4, Pp 566-577 (2019)
Research and Practice in Thrombosis and Haemostasis, Vol 3, Iss 4, Pp 566-577 (2019)
Autism spectrum disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder that is caused by gene-environment interactions. To improve its diagnosis and treatment, numerous efforts have been undertaken to identify reliable biomarkers fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96772a5028d910422fd939ace48b6346
http://europepmc.org/articles/PMC6781926
http://europepmc.org/articles/PMC6781926
Autor:
Nihr BioResource, Jaak Jaeken, Lieven Lagae, Ernest Turro, Kate Downes, Kathleen Stirrups, Daniel Greene, Manisha Padmakumar, Chantal Thys, Kathleen Freson, Vincent Ramaekers, Chris Van Geet
Publikováno v:
JIMD Reports
JIMD Reports, Vol 47, Iss 1, Pp 9-16 (2019)
JIMD Reports, Vol 47, Iss 1, Pp 9-16 (2019)
BACKGROUND: Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in SLC18A2, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoamines in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3b08241cafc99cf9adb6e02286386c
http://europepmc.org/articles/PMC6498820
http://europepmc.org/articles/PMC6498820
Akademický článek
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Autor:
Flora Peyvandi, Eti A. Femia, Doris Boeckelmann, Anna Lecchi, Silvia La Marca, Barbara Zieger, Andrea Artoni, Antonia Lenz
Publikováno v:
Platelets. 31(7)
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 humansequencing revealed a novel pathogenic homozygous variant (NM_032383.4:c.7T, p.Gln3*) resulting in a premature stop codon at the amino acid 3. Moreove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9218e37135471944abd6951e75e7c8
https://pubmed.ncbi.nlm.nih.gov/31880485
https://pubmed.ncbi.nlm.nih.gov/31880485
Akademický článek
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