Results 31 to 40 of about 27,023 (191)

Magnetic Resonance Imaging as a Complementary Diagnostic Tool for Aplastic Anemia

American Journal of Hematology, EarlyView.
Jeanette Walter, Peter Isfort, Susanne Isfort, Jens Panse, Katharina Lindemann‐Docter, Tim H. Brümmendorf, Fabian Beier   +6 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Characterizing a murine breast cancer mouse model reveals chromosomal abnormalities in structure and number of single‐cell clones and the presence of rare cancer stem cell‐like phenotypes

Animal Models and Experimental Medicine, EarlyView.
Characterizing a murine breast cancer mouse model reveals chromosomal abnormalities in structure and number of single‐cell clones and the presence of rare cancer stem cell‐like phenotypes. Abstract Realistic models for cancer research representing disease progression that commensurately respond to therapeutics consistent with clinical observation are ...
Quy Van‐Chanh Le, Zsuzsa S. Kocsis, Sisi Liang, Yanrui Li, Briony L. Gliddon, Sheree Bailey, Anh Thai‐Quynh Nguyen, Tyron Turnbull, Stuart M. Pitson, Zsolt Jurányi, Hien Le, Ivan Kempson   +11 more
wiley   +1 more source

Multimaterial Triphasic Scaffold Replicates Enthesis Microenvironment to Modulate Early Cell Responses

Advanced NanoBiomed Research, EarlyView.
A bioinspired triphasic scaffold integrating 3D printed polycaprolactone and electrospun poly(lactic‐co‐glycolic acid) is developed to replicate the organization of the tendon‐to‐bone enthesis. Cyclic mechanical stimulation induces spatially defined cell morphology and lineage‐related gene expression in human mesenchymal stem cells, highlighting the ...
Ginevra Pegollo, Simone Micalizzi, Girish Pattappa, Philipp Stahlhut, Jürgen Groll, Carmelo De Maria, Denitsa Docheva, Giovanni Vozzi   +7 more
wiley   +1 more source

Establishment of Interspecies Somatic Cell Nuclear Transfer and Transgene‐Free Inducible Pluripotent Stem Cells for Versatile Conservation of the Germplasm Resource of Wild Boar

Animal Research and One Health, EarlyView.
Conserving genetic material and even increasing genetic diversity is critical. To conduct the conservation of wild boar germplasm resources, we have successfully obtained healthy cloned wild boars for the first time using interspecies somatic cell nuclear transfer and established transgene‐free iPSCs that can be used to conduct iterative rounds of gene
Chen Gao, Xinyi Zhou, Shigang Gu, Jianbo Li, Jing Wang, Yurong Zhang, Wenxuan Zhao, Xinhua Wei, Liting Lu, Quanmin Zhao, Yongye Huang, Dawei Yu   +11 more
wiley   +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heiblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

Monocyte maturation pattern by flow cytometry expression of CD64, CD300e, and CD14 correlates to presence of myeloid neoplasm and helps identify blast equivalents in the setting of monocytic neoplasm

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract CD300e is a marker of mature monocytes in flow cytometry; however, there is limited detailed information on staining patterns in conjunction with other monocyte markers. We evaluated the flow cytometric staining patterns of CD64, CD14, and CD300e in 12 negative and 33 positive peripheral blood specimens and 16 negative and 56 positive bone ...
Jenny Zhang, Jacob Kaplan, Elizabeth Courville   +2 more
wiley   +1 more source

Imaging Flow Cytometry Detection of Cytogenetic Abnormalities in Circulating CD34+ Cells Predicts Leukemic Transformation in Myelofibrosis

Cytometry Part A, EarlyView.
ABSTRACT Myelofibrosis is a myeloproliferative neoplasm with potential to transform to acute myeloid leukemia. This evolution is unpredictable and current assays lack the sensitivity and applicability needed to predict this transformation. While population‐level data utilizing comprehensive genomic profiling can identify subgroups at higher risk of ...
Ruby M. Hamilton, Ryan J. Collinson, Henry Y. Hui, Zi Yun Ng, Hun S. Chuah, Malcolm Webb, Belinda B. Guo, Wendy N. Erber, Kathy A. Fuller   +8 more
wiley   +1 more source

Interpretation of in vitro concentration‐response data for risk assessment and regulatory decision‐making: Report from the 2022 IWGT quantitative analysis expert working group meeting

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Quantitative risk assessments of chemicals are routinely performed using in vivo data from rodents; however, there is growing recognition that non‐animal approaches can be human‐relevant alternatives. There is an urgent need to build confidence in non‐animal alternatives given the international support to reduce the use of animals in toxicity ...
Marc A. Beal, Guangchao Chen, Kerry L. Dearfield, Min Gi, Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Alexandra S. Long, David P. Lovell, Barbara L. Parsons, Stefan Pfuhler, John Wills, Andreas Zeller, George Johnson, Paul A. White   +14 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source