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1994 1
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36 results

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Page 1
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A. Zanetti Drumond V, et al. Genet Res (Camb). 2021 Feb 2;2021:6652957. doi: 10.1155/2021/6652957. eCollection 2021. Genet Res (Camb). 2021. PMID: 33762894 Free PMC article. Review.
Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. ...
Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 …
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Nurden P, Stritt S, Favier R, Nurden AT. Nurden P, et al. Haematologica. 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. Haematologica. 2021. PMID: 33147934 Free PMC article. Review.
The ANO6 gene encoding a Ca2+-activated ion channel required for phospholipid scrambling is responsible for the rare Scott syndrome and decreased procoagulant activity. A novel EPHB2 defect in a familial bleeding syndrome demonstrates a role for this tyrosine …
The ANO6 gene encoding a Ca2+-activated ion channel required for phospholipid scrambling is responsible for the rare Scott syndrom …
Platelets and coagulation in thrombus formation: aberrations in the Scott syndrome.
van Geffen JP, Swieringa F, Heemskerk JW. van Geffen JP, et al. Thromb Res. 2016 May;141 Suppl 2:S12-6. doi: 10.1016/S0049-3848(16)30355-3. Thromb Res. 2016. PMID: 27207414 Review.
Many of the procoagulant platelet activities are altered in the Scott syndrome....
Many of the procoagulant platelet activities are altered in the Scott syndrome....
[Aarskog-Scott syndrome].
Matsuura N. Matsuura N. Nihon Rinsho. 2006 Sep 28;Suppl 3:395-9. Nihon Rinsho. 2006. PMID: 17022572 Review. Japanese. No abstract available.
Procoagulant platelets: Laboratory detection and clinical significance.
Tohidi-Esfahani I, Lee CSM, Liang HPH, Chen VMY. Tohidi-Esfahani I, et al. Int J Lab Hematol. 2020 Jun;42 Suppl 1:59-67. doi: 10.1111/ijlh.13197. Int J Lab Hematol. 2020. PMID: 32543068 Review.
Reduced levels of procoagulant platelets have been linked to bleeding in Scott's syndrome and haemophilia A patients, and elevated levels have been demonstrated in many thrombotic disorders, including identifying patients at higher risk for stroke recurrence. ...
Reduced levels of procoagulant platelets have been linked to bleeding in Scott's syndrome and haemophilia A patients, and elev …
Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.
Depeyre A, Schlund M, Gryseleyn R, Ferri J. Depeyre A, et al. J Oral Maxillofac Surg. 2018 Oct;76(10):2202-2208. doi: 10.1016/j.joms.2018.03.027. Epub 2018 Mar 29. J Oral Maxillofac Surg. 2018. PMID: 29689188 Review.
PURPOSE: Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by …
PURPOSE: Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. …
Cellular functions of TMEM16/anoctamin.
Oh U, Jung J. Oh U, et al. Pflugers Arch. 2016 Mar;468(3):443-53. doi: 10.1007/s00424-016-1790-0. Epub 2016 Jan 25. Pflugers Arch. 2016. PMID: 26811235 Free PMC article. Review.
ANO2 is involved in olfaction, whereas ANO6 works as a scramblase whose mutation causes a rare bleeding disorder, the Scott syndrome. ANO5 is associated with muscle and bone diseases. ...
ANO2 is involved in olfaction, whereas ANO6 works as a scramblase whose mutation causes a rare bleeding disorder, the Scott syndro …
Roles and regulation of phospholipid scramblases.
Kodigepalli KM, Bowers K, Sharp A, Nanjundan M. Kodigepalli KM, et al. FEBS Lett. 2015 Jan 2;589(1):3-14. doi: 10.1016/j.febslet.2014.11.036. Epub 2014 Dec 3. FEBS Lett. 2015. PMID: 25479087 Free article. Review.
Meanwhile, TMEM16 family members were identified to externalize phosphatidylserine in response to elevated calcium in Scott syndrome platelets, which is critical for activation of the coagulation cascade. ...
Meanwhile, TMEM16 family members were identified to externalize phosphatidylserine in response to elevated calcium in Scott syndro …
Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints.
Fouassier M, Babuty A, Debord C, Béné MC. Fouassier M, et al. Cytometry B Clin Cytom. 2020 Nov;98(6):464-475. doi: 10.1002/cyto.b.21892. Epub 2020 Jun 9. Cytometry B Clin Cytom. 2020. PMID: 32516490 Free article. Review.
Membrane labeling with antibodies to CD42a or CD41, respectively, useful to assess the genetic-related defects of Glanzmann thrombocytopenia and Bernard Soulier syndrome are then described. Platelet degranulation disorders are detailed in the next section, as they can be e …
Membrane labeling with antibodies to CD42a or CD41, respectively, useful to assess the genetic-related defects of Glanzmann thrombocytopenia …
Advances in our understanding of the molecular basis of disorders of platelet function.
Nurden A, Nurden P. Nurden A, et al. J Thromb Haemost. 2011 Jul;9 Suppl 1:76-91. doi: 10.1111/j.1538-7836.2011.04274.x. J Thromb Haemost. 2011. PMID: 21781244 Free article. Review.
Defects of secretion from delta-granules are accompanied by pigment defects in the Hermansky-Pudlak and Chediak-Higashi syndromes; they concern multiple genes and protein complexes involved in secretory organelle biogenesis and function. Quebec syndrome is linked to a tand …
Defects of secretion from delta-granules are accompanied by pigment defects in the Hermansky-Pudlak and Chediak-Higashi syndromes; they conc …
36 results