Results 61 to 70 of about 3,635 (200)

A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction [PDF]

, 2018
We identified a novel heterozygous ITGB3 p.T720del mutation in a pedigree with macrothrombocytopenia exhibiting aggregation dysfunction. Platelet aggregation induced by ADP and collagen was significantly reduced, while ristocetin aggregation was normal ...
Nakagawa, Masao, Goto, Hideki, Masao Nakagawa, Teshima, Takanori, Onozawa, Masahiro, Kunishima, Shinji, Shinji Kunishima, Hashimoto, Daigo, Kahata, Kaoru, Kohei Okada, Hayasaka, Koji, Migita, Ohsuke, Daigo Hashimoto, Hata, Kenichiro, Koji Hayasaka, Takahiro Yamada, Kenichiro Hata, Yamada, Takahiro, Ohsuke Migita, Hideki Goto, Naohiro Miyashita, Takeshi Kondo, Miyashita, Naohiro, Kaoru Kahata, Okada, Kohei, Kondo, Takeshi, Masahiro Onozawa, Takanori Teshima   +27 more
core   +1 more source

A Phytosterolemia Patient Presenting Exclusively with Macrothrombocytopenia and Stomatocytic Hemolysis

, 2011
Background: Phytosterolemia is a rare autosomal recessive lipid storage disease. It is caused by mutations of ABCG5 and ABCG8 genes and characterized by the increased plasma levels of plant sterols.
Changgeng Ruan, Jianying Liang, Xia Bai, Lijuan Cao, Gaifeng Wang, Zhaoyue Wang   +5 more
core   +1 more source

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

Haematologica, 2013
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets.
Roberta Bottega, Alessandro Pecci, Erica De Candia, Nuria Pujol-Moix, Paula G. Heller, Patrizia Noris, Daniela De Rocco, Gian Marco Podda, Ana C. Glembotsky, Marco Cattaneo, Carlo L. Balduini, Anna Savoia   +11 more
doaj   +1 more source

Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells

Scientific Reports, 2021
Macrothrombocytopenia is a common pathology of missense mutations in genes regulating actin dynamics. Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 exhibits a variety of clinical manifestations, including ...
Etsuko Daimon, Yukinao Shibukawa, Suganya Thanasegaran, Natsuko Yamazaki, Nobuhiko Okamoto   +4 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation [PDF]

, 2002
GATA1 is the X-linked transcriptional activator required for megakaryocyte and erythrocyte differentiation. Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation ...
Hoylaerts, Marc, Vermylen, Jozef, Mariën, Paul, Matthijs, Gert, Thys, Chantal, Freson, Kathleen, Van Geet, Christel   +6 more
core   +1 more source

Expanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001–2023)

British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.
Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim, Jae Hee Lee, Talya Wittmann Dayagi, Robert J. Klaassen, Yves D. Pastore, Sharon Abish, MacGregor Steele, Catherine Corriveau‐Bourque, Vicky R. Breakey, Roona Sinha, Soumitra Tole, Lisa Goodyear, Josee Brossard, Stephanie Villeneuve, Bruce Crooks, Meera Rayar, Laura Wheaton, Sara Ogle, Michaela Cada, Hongbing Li, Rinu Mathew, Yigal Dror   +21 more
wiley   +1 more source

ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia

, 2017
peer reviewedThe most common cause of thrombocytopenia in children is immune thrombocytopenia. Nevertheless, some atypical cases should evoke the hypothesis of genetic thrombocytopenia. Indeed, in the past years, 30 new genes had been described in the
David, Bianca-Andreea
core   +1 more source

Prevalence of constitutional macrothrombocytopenia in the immigrants of Northern and Eastern states of India

Indian Journal of Pathology and Microbiology, 2020
Background: Thrombocytopenia is generally alarming to both clinicians and patients as the consequence can be disastrous. However, some of the conditions associated with thrombocytopenia can be innocuous.
Hima Sree Edupuganti, Vani Krishnamurthy
doaj   +1 more source

RhoA is essential for maintaining normal megakaryocyte ploidy and platelet generation. [PDF]

PLoS ONE, 2013
RhoA plays a multifaceted role in platelet biology. During platelet development, RhoA has been proposed to regulate endomitosis, proplatelet formation, and platelet release, in addition to having a role in platelet activation.
Aae Suzuki, Jae-Won Shin, Yuhuan Wang, Sang H Min, Morty Poncz, John K Choi, Dennis E Discher, Chris L Carpenter, Lurong Lian, Liang Zhao, Yangfeng Wang, Charles S Abrams   +11 more
doaj   +1 more source