Results 21 to 30 of about 3,635 (200)

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia [PDF]

Turkish Journal of Hematology
Başak Bostankolu Değirmenci, Hamza Polat   +1 more
doaj   +2 more sources

Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy

Frontiers in Genetics, 2021
To investigate refractory hypercholesterolemia, a female patient and relatives were subjected to whole-genome sequencing. The proband was found to have compound heterozygous substitutions p. Arg446Gln and c.1118+3G>T in ABCG5, one of two genes causing
Libin Deng, Libin Deng, Libin Deng, Jingsong Xu, Wei Chen, Shicheng Guo, Robert D. Steiner, Qi Chen, Zhujun Cheng, Yanmei Xu, Bei Yao, Xiaoyan Li, Xiaozhong Wang, Keyu Deng, Steven J. Schrodi, Dake Zhang, Hongbo Xin   +16 more
doaj   +1 more source

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding

Frontiers in Pediatrics, 2021
Inherited macrothrombocytopenia (IMTP) is a rare disorder characterized by a reduced platelet count and abnormally large platelets. The main clinical symptom of IMTP is mild bleeding in some patients.
Fang-Mei Luo, Fang-Mei Luo, Liang-Liang Fan, Liang-Liang Fan, Yue Sheng, Yi Dong, Lv Liu   +6 more
doaj   +1 more source

Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey

Frontiers in Cardiovascular Medicine, 2022
We reported a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations.
Alena S. Limonova, Alexandra I. Ershova, Alexey N. Meshkov, Anna V. Kiseleva, Mikhail G. Divashuk, Mikhail G. Divashuk, Marina V. Kurkina, Oxana M. Drapkina   +7 more
doaj   +1 more source

Individualized Bleeding Risk Assessment through Thromboelastography: A Case Report of May–Hegglin Anomaly in Preterm Twin Neonates

Children, 2021
May–Hegglin anomaly (MHA) is a rare autosomal dominant disorder in the spectrum of myosin heavy chain-related disorders (MYH9-RD), characterized by congenital macrothrombocytopenia and white blood cell inclusions.
Ilaria Amodeo, Genny Raffaeli, Federica Vianello, Giacomo Cavallaro, Valeria Cortesi, Francesca Manzoni, Giacomo S. Amelio, Silvia Gulden, Fabio Mosca, Stefano Ghirardello   +9 more
doaj   +1 more source

Macrothrombocytopenia and stomatocytosis in sitosterolaemia

British Journal of Haematology, 2021
SCOPUS: no ...
Safiatou Diallo, Anne Demulder, Kathleen Freson, Alina Ferster, Laurence Rozen   +4 more
openaire   +3 more sources

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia [PDF]

, 2016
The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in hemostasis. During the last 4 decades, it has become apparent that loss of function of any 1 of 3 of the
Greene, D, Simeoni, I, Stephens, JC, Hart, DP, Mumford, AD, Kelly, AM, Penkett, CJ, Roughley, C, Huizinga, EG, Laffan, MA, Tait, RC, Papadia, S, Sivapalaratnam, S, Freson, K, Kunishima, S, Downes, K, Nurden, P, Astle, WJ, Lentaigne, C, Ouwehand, WH, Stirrups, K, Peerlinck, K, Westbury, SK, Perry, DJ, Turro, E   +24 more
core   +2 more sources

Inherited macrothrombocytopenias on the rise [PDF]

Blood, 2014
In this issue of Blood, Manchev et al describe a consanguineous family with severe macrothrombocytopenia and bleeding symptoms where exome sequencing revealed a homozygous missense mutation in the PRKACG gene (p.74Ile>Met) encoding the γ-catalytic subunit of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA).
Carolina Landolt-Marticorena, Walter H. A. Kahr   +1 more
openaire   +2 more sources

DataSheet1_Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy.doc

, 2021
To investigate refractory hypercholesterolemia, a female patient and relatives were subjected to whole-genome sequencing. The proband was found to have compound heterozygous substitutions p.
Shicheng Guo (171219), Bei Yao (803835), Xiaoyan Li (117291), Dake Zhang (708874), Jingsong Xu (6992267), Wei Chen (23863), Robert D. Steiner (11244483), Xiaozhong Wang (353073), Qi Chen (144168), Hongbo Xin (2571013), Zhujun Cheng (6917414), Yanmei Xu (421361), Steven J. Schrodi (9197675), Keyu Deng (830504), Libin Deng (522588)   +14 more
core   +1 more source

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

Frontiers in Genetics, 2023
The CDC42 (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle progression, motility, migration, proliferation ...
Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak   +9 more
doaj   +1 more source