PMC Articles for MedGen (Select 482606) - PMC

Mizuki Momoi, Yoshinori Katsumata, Hiroyoshi Kunimoto, Takumi Inami, Fuyuki Miya, Atsushi Anzai, Shinichi Goto, Ayaka Miura, Yoshiki Shinya, Takahiro Hiraide, Kohsuke Shirakawa, Jin Endo, Keiichi Fukuda, Masaki Ieda, Kenjiro Kosaki, Hideaki Nakajima, Masaharu Kataoka

J Am Heart Assoc. 2024 Dec 3; 13(23): e035498. Published online 2024 Nov 27. doi: 10.1161/JAHA.124.035498

PMCID:: PMC11681603

Abstract Article PDF–1.4M

Select item 116752466.

Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females

Olivia Morris, Michele Morris, Shawn Jobe, Disha Bhargava, Jena M. Krueger, Sanjana Arora, Jeremy W. Prokop, Cynthia Stenger

Genes (Basel) 2024 Dec; 15(12): 1522. Published online 2024 Nov 27. doi: 10.3390/genes15121522

PMCID:: PMC11675246

Abstract Article PDF–4.5M

Select item 116744807.

Rapid Detection of PML::RARA Fusions in Acute Promyelocytic Leukemia: CRISPR/Cas9 Nanopore Sequencing with Adaptive Sampling

William Middlezong, Victoria Stinnett, Michael Phan, Brian Phan, Laura Morsberger, Melanie Klausner, Jen Ghabrial, Natalie DeMetrick, Jing Zhu, Trisha James, Aparna Pallavajjala, Christopher D. Gocke, Maria R. Baer, Ying S. Zou

Biomolecules. 2024 Dec; 14(12): 1595. Published online 2024 Dec 13. doi: 10.3390/biom14121595

PMCID:: PMC11674480

Abstract Article PDF–1.8M

Select item 116703528.

A distinct subgroup of AML resembling the APL immunophenotype is associated with DIC

Pan Li, Li Liu, Fuling Zhou

BMC Cancer. 2024; 24: 1576. Published online 2024 Dec 26. doi: 10.1186/s12885-024-13348-6

PMCID:: PMC11670352

Abstract Article PDF–2.7M

Select item 116657439.

Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis

Charlotte Cunningham-Rundles, Jean-Laurent Casanova, Bertrand Boisson

Hematology Am Soc Hematol Educ Program. 2024 Dec 6; 2024(1): 137-142. Published online 2024 Dec 6. doi: 10.1182/hematology.2024000538

PMCID:: PMC11665743

Abstract Article PDF–189K

Select item 1166554510.

Pegylated interferon: the who, why, and how

Jean-Jacques Kiladjian

Hematology Am Soc Hematol Educ Program. 2024 Dec 6; 2024(1): 535-540. Published online 2024 Dec 6. doi: 10.1182/hematology.2024000577

PMCID:: PMC11665545

Abstract Article PDF–222K

Select item 1165972811.

The β‐Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia

Chen Qian, Chaoyu Huang, Qinghui Luo, Kaili Qin, Yangyang Wu, Lin Liao, Qian Zhang, Liqun Xiang, Jie Yan

J Clin Lab Anal. 2024 Dec; 38(24): e25123. Published online 2024 Dec 12. doi: 10.1002/jcla.25123

PMCID:: PMC11659728

Abstract Article PDF–1.2M

Select item 1165950512.

Low vitamin C status and hypermobility‐related disorders in patients with bleeding disorder of unknown cause

Eva Leinøe, Halla Fridriksdottir, Andreas Ørslev Rasmussen, Eva Funding, Anne Louise Tølbøll Sørensen, Peter Kampmann, Jens Lykkesfeldt, Maria Rossing

Haemophilia. 2024 Nov; 30(6): 1366–1372. Published online 2024 Sep 23. doi: 10.1111/hae.15099

PMCID:: PMC11659505

Abstract Article PDF–608K

Select item 1165948813.

A novel gene editing lexicon strategy for the haemophilia community: Research plan for development and preliminary results

Cedric Hermans, Leonard A. Valentino, Courtney D. Thornburg, Carmen Unzu, Mark A. Kay, Flora Peyvandi, Penni Smith, Wolfgang Miesbach, William McKeown, Glenn F. Pierce, Kate Khair, Steven W. Pipe, Katarina Starcevic, Monisha Pillai, Micheala Jones, Megan Chiao, Ilia Antonino, Craig Kessler

Haemophilia. 2024 Nov; 30(6): 1272–1280. Published online 2024 Oct 22. doi: 10.1111/hae.15108

PMCID:: PMC11659488

Abstract Article PDF–645K

Select item 1165948214.

Haemophilia testing of young girls in Canada: Describing the current recommendations for factor level and genetic testing and the experiences of Canadian parents

Megan Chaigneau, Julie Grabell, Emil Wijnker, Mackenzie Bowman, Paula James

Haemophilia. 2024 Nov; 30(6): 1393–1399. Published online 2024 Oct 5. doi: 10.1111/hae.15107

PMCID:: PMC11659482

Abstract Article PDF–254K

Select item 1165299415.

以肠系膜静脉血栓为突出表现的遗传性蛋白S缺乏症1例

金银姬, 刘蕊

Beijing Da Xue Xue Bao Yi Xue Ban. 2024 Dec 18; 56(6): 1106–1109. Chinese. Published online 2024 Oct 23. doi: 10.19723/j.issn.1671-167X.2024.06.026

PMCID:: PMC11652994

Article PDF–1.1M

Select item 1164089916.

Identifying Genes Associated With Proliferation, Immunity and Thrombosis in Paroxysmal Nocturnal Haemoglobinuria

Yali Du, David Wang, Qinglin Hu, Zhizhen Lai, Chen Yang, Huiwen He, Shuqing Wang, Huijuan Zhang, Peng Chen, Zepeng Li, Miao Chen, Bing Han

J Cell Mol Med. 2024 Dec; 28(23): e70295. Published online 2024 Dec 13. doi: 10.1111/jcmm.70295

PMCID:: PMC11640899

Abstract Article PDF–1.1M

Select item 1163517317.

Genetic Diagnosis and Prenatal Diagnosis of a Rare FVIII Family With Haemophilia A

Yaya Yang, Yidan Wang, Jian Gao

J Cell Mol Med. 2024 Dec; 28(23): e70275. Published online 2024 Dec 12. doi: 10.1111/jcmm.70275

PMCID:: PMC11635173

Abstract Article PDF–3.3M

Select item 1163075318.

Identifying X-chromosome variants associated with age-related macular degeneration

Michelle Grunin, Robert P Igo Jr, Yeunjoo E Song, Susan H Blanton, Margaret A Pericak-Vance, Jonathan L Haines, International Age-related Macular Degeneration Genomics Consortium

Hum Mol Genet. 2024 Dec 15; 33(24): 2085–2093. Published online 2024 Sep 26. doi: 10.1093/hmg/ddae141

PMCID:: PMC11630753

Abstract Article PDF–494K

Select item 1162920619.

Adeno-associated virus–based gene therapy for hemophilia A and B: a systematic review and meta-analysis

Saarang R. Deshpande, Keerthy Joseph, Jiayi Tong, Yong Chen, Allyson Pishko, Adam Cuker

Blood Adv. 2024 Dec 10; 8(23): 5957–5974. Published online 2024 Oct 9. doi: 10.1182/bloodadvances.2024014111

PMCID:: PMC11629206

Abstract Article PDF–2.3M

Select item 1161810020.

Long-term lineage commitment in haematopoietic stem cell gene therapy

Andrea Calabria, Giulio Spinozzi, Daniela Cesana, Elena Buscaroli, Fabrizio Benedicenti, Giulia Pais, Francesco Gazzo, Serena Scala, Maria Rosa Lidonnici, Samantha Scaramuzza, Alessandra Albertini, Simona Esposito, Francesca Tucci, Daniele Canarutto, Maryam Omrani, Fabiola De Mattia, Francesca Dionisio, Stefania Giannelli, Sarah Marktel, Francesca Fumagalli, Valeria Calbi, Sabina Cenciarelli, Francesca Ferrua, Bernhard Gentner, Giulio Caravagna, Fabio Ciceri, Luigi Naldini, Giuliana Ferrari, Alessandro Aiuti, Eugenio Montini

Nature. 2024; 636(8041): 162–171. Published online 2024 Oct 23. doi: 10.1038/s41586-024-08250-x

PMCID:: PMC11618100

Abstract Article PDF–22M

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