Results 121 to 130 of about 44,772 (247)

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

International Journal of Cancer, Volume 159, Issue 3, Page 797-808, 1 August 2026.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang, Flavia Paternostro, Agnieszka Wozniak, Lore De Cock, Luna De Sutter, Kimberly Verbeeck, Ulla Vanleeuw, Daniël Gorgels, Che‐Jui Lee, Raf Sciot, Patrick Schöffski   +10 more
wiley   +1 more source

Plexiform Neurofibroma Without Neurofibromatosis Type 1 [PDF]

, 2020
Plexiform neurofibroma (PNF) is a particular subtype of benign nerve sheath tumors with a reticular growth pattern not respecting tissue borders and involving several nerve branches or fascicles.
Uwe Wollina, Schönlebe, Jacqueline, Wollina, Uwe, Jacqueline Schönlebe   +3 more
core   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Neurofibromatosis type 1

Muller Journal of Medical Sciences and Research, 2013
P Chaitra, M Ramesh Bhat
doaj   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Multiple Oral and Eyelid Nodules in a Pediatric Patient

Oral Diseases, EarlyView.
Caique Mariano Pedroso, Paulo Victor Mendes Penafort, Patrícia Vitor de Souza, Fernanda M. Pascon, Regina Maria Punppin‐Rontani, Beatriz Frolini Paulo Cherve, Rachel Marinho Robim, Regina Maria Holanda de Mendonça, Marcio Ajudarte Lopes, Pablo Agustin Vargas, Alan Roger Santos‐Silva   +10 more
wiley   +1 more source

Quantitative Control of Transposable Elements: From Genome Plasticity to Immune Regulatory Circuits

Cell Biochemistry and Function, Volume 44, Issue 7, July 2026.
ABSTRACT Transposable elements (TEs) constitute nearly half of the human genome and are increasingly recognized as context‐dependent regulators of genome function rather than passive repetitive DNA. This Review synthesizes classical and recent evidence on TE biology, including TE classification, mechanisms of mobilization, host restriction pathways ...
Irving Jesús Reyes‐Barragán
wiley   +1 more source

Renal artery rupture with lethal outcome in a patient with neurofibromatosis type 1: Case report and review of literature

Journal of International Medical Research
Neurofibromatosis type 1 is an autosomal dominant disorder. The vasculopathy of neurofibromatosis type 1 may rarely comprise stenosis, occlusion, aneurysm, pseudoaneurysm, and arteriovenous deformity, and it often presents as rupture of an undiagnosed ...
Jisun Lee, Yook Kim
doaj   +1 more source

Solitary Nodule in the Hard Palate

Oral Diseases, EarlyView.
Sara Lia Gonçalves de Lima, Poliana Soares Cruz, Maria Gabriela Candido Dias, Láysa Tavares de Melo, Laura Maria dos Santos Reis Rocha de Castro, Felipe Paiva Fonseca, Brunno Santos de Freitas Silva   +6 more
wiley   +1 more source