Results 91 to 100 of about 55,531 (223)

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

FBXO47 regulates centromere pairing as key component of centromeric SCF E3 ligase in mouse spermatocytes

Communications Biology
Centromere pairing is crucial for synapsis in meiosis. This study delves into the Skp1-Cullin1-F-box protein (SCF) E3 ubiquitin ligase complex, specifically focusing on F-box protein 47 (FBXO47), in mouse meiosis.
Ani Ma, Yali Yang, Lianbao Cao, Lijun Chen, Jian V. Zhang   +4 more
doaj   +1 more source

Immunohistochemistry as a tool for identifying EGFR amplification in CNS tumors

Brain Pathology, EarlyView.
EGFR gene amplification constitutes a diagnostic hallmark for glioblastoma, IDH‐wildtype (GB, IDH‐WT). Herein, we demonstrated that EGFR IHC is a highly specific and sensitive biomarker for identifying EGFR amplification and should be part of the neuropathologist's routine panel of antibodies.
Arnault Tauziède‐Espariat, Mary Bah, Farah Sassi, Noémie Pucelle, Charlotte Berthaud, Marion Mandoula, Zeina Dababou, Noah Carnes, Leïla Brissez, Lauren Hasty, Euphrasie Servant, Alice Métais, Pascale Varlet   +12 more
wiley   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, EarlyView.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

BOLL‐Containing Aggregates Mediate the Translational Regulation During Human Oogenesis

Cell Proliferation, EarlyView.
This work elucidates that BOLL‐containing aggregate‐mediated translational control is essential for human oogenesis. These aggregates recruit PABPC1 and FXR1 to activate the translation of U‐rich mRNAs encoding cell cycle proteins, thereby ensuring successful meiotic progression.
Ying Li, Lingya Mao, Boyuan Liang, Longxin Xie, Wenpei Xiang, Kehkooi Kee   +5 more
wiley   +1 more source

Immune cells composition in the skin and subcutaneous adipose tissue of patients with systemic sclerosis

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objectives Systemic sclerosis (SSc) is a rare, chronic autoimmune disease characterized by fibrosis of the skin and/or internal organs. Emerging evidence suggests that subcutaneous adipose tissue may contribute to systemic inflammation and fibrosis in SSc.
Marija Geroldinger‐Simić, Ana E. Aguilar González, Gerald Exler, Georg Stary   +3 more
wiley   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Hematopathology Practice in the Digital Era: What has Changed?

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematopathology workflows are complex, since they include numerous data points necessary for guiding further testing, diagnosis, and patient management. The workflows start with complete blood cell counts, with subsequent morphologic evaluation of peripheral blood (PB) and bone marrow (BM).
Olga Pozdnyakova
wiley   +1 more source