Results 91 to 100 of about 34,178 (233)

Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene

Stem Cell Research
The NF1 gene is related to neurofibromatosis type 1 (NF1), which is an autosomal dominant disorder associated with multisystem involvement and epilepsy susceptibility. A human induced pluripotent stem cell (iPSC) line was derived from a pediatric patient
Fan Wu, Xinna Ji, Yanyan Gao, Wanting Liu, Yuanfang Lu, Aiyun Yang, Jianhua Wang, Qian Chen, Xue Zhang   +8 more
doaj   +1 more source

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

Comprehensive treatment of severe neurofibromatosis type 1 manifestations in the patient with NF1 mutation: c.240_241del(p.Y80fs)

Сибирский онкологический журнал
Background. Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor syndrome characterized by marked polymorphism of clinical manifestations. There is evidence of genotypic correlations in NF1 with more pronounced manifestations of the disease with
R. N. Mustafin
doaj   +1 more source

Circulating microRNA signatures reveal core and reversible dysregulation in obesity via machine learning

The Journal of Physiology, EarlyView.
Abstract figure legend Machine learning analysis of circulating microRNA (miRNA) profiles identified a minimal set of biomarkers that distinguish individuals with obesity from lean individuals both before and after weight‐loss intervention. Comparative analyses revealed heterogeneous molecular responses to weight reduction, with some miRNAs showing ...
Yuan Yue, Rajesh Katare, Jeremiah Deng, Daniel Alencar Da Costa, Patrick Manning   +4 more
wiley   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, Volume 73, Issue 9, September 2026.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Signaling Mutations Negate the Favorable Impact of NPM1 Mutations in Older Patients With Newly Diagnosed Acute Myeloid Leukemia Treated With VEN/HMA

American Journal of Hematology, Volume 101, Issue 9, Page 2246-2257, September 2026.
ABSTRACT Frameshift mutations in exon 12 of nucleophosmin 1 (NPM1 mut) are among the most common mutations in acute myeloid leukemia (AML) and have historically been considered favorable‐risk in the absence of FLT3‐ITD. In the European LeukemiaNet (ELN) 2024 risk‐classification for patients treated with hypomethylating agents plus venetoclax (HMA + VEN)
Fieke W. Hoff, Joshua F. Zeidner, Geeta Torlapati, Deedra Nicolet, Krzysztof Mrózek, Ying Huang, Alexander Li, Rina Li Welkie, Ronan T. Swords, Elie Traer, Eytan M. Stein, Tara L. Lin, Maria R. Baer, Vu H. Duong, William G. Blum, Martha L. Arellano, Wendy Stock, Olatoyosi Odenike, Rebecca L. Olin, Catherine C. Smith, Gary J. Schiller, Emily K. Curran, Onyee Chan, Christine McMahon, Michael Hochman, Kieran Sahasrabudhe, Charles Foucar, Jesus Gonzalez‐Lugo, Brittany Knick Ragon, Shivani V. Handa, Nyla A. Heerema, Timothy Chen, Molly Martycz, Mona Stefanos, Sonja G. Marcus, Leonard Rosenberg, Brian J. Druker, Ross L. Levine, Amy Burd, Ashley O. Yocum, Uma M. Borate, Alice S. Mims, Ann‐Katrin Eisfeld, John C. Byrd, Yazan F. Madanat   +44 more
wiley   +1 more source

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia

International Journal of Cancer, Volume 159, Issue 5, Page 1218-1227, 1 September 2026.
Acute myeloid leukemia adult cases often appear cytogenetically normal when analyzed with conventional karyotyping. However, acquired structural variants may escape routine detection. Here, optical genome mapping detected diverse genomic alterations in nearly half of the analyzed cytogenetically normal cases.
Tuuni Turtinen, Andriana Valkama, Christopher Wray, Sandra Vorimo, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +7 more
wiley   +1 more source

Radial Reconstruction With Fibular Free Flap Using CAD‐CAM and Virtual Surgical Planning in Pediatric Pseudoarthrosis due to Neurofibromatosis Type 1: A Case Report and Literature Review

Microsurgery, Volume 46, Issue 6, September 2026.
ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that causes skeletal dysplasia and congenital pseudoarthrosis of the forearm, which is very difficult to repair. The vascularized free fibular flap (FFF) is the standard treatment.
Alicia Dean, Manuel Román Torres, Concepción Centella Gutiérrez, Guillermo Rodríguez Martínez, Genoveva Molina Pérez, Francisco Alamillos Granados   +5 more
wiley   +1 more source

Eye Disorders in Neurofibromatosis (NF1)

Collegium antropologicum, 2005
Neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder with high index of spontaneous mutations and extremely varied and impredictible clinical manifestations. The aim of this work was to give an account of eye disorders in NF1. 132 patients of age 0-16 years with NF1 were followed up for 15 years.
Cerovski, Branimir, Sabol, Zlatko, Jukić, Tomislav, Katušić, Damir, Kordić, Rajko   +4 more
openaire   +3 more sources

Histiocytosis development and clinical variation through the lens of genomics

The Journal of Pathology, Volume 270, Issue 1, Page 23-39, September 2026.
Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps, Astrid GS van Halteren, Tom van Wezel, Pancras CW Hogendoorn   +3 more
wiley   +1 more source