Results 131 to 140 of about 67,683 (260)

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional studyCapsule Summary

JAAD International
Background: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder characterized by NF1 gene mutations. The well-described manifestations of NF1 are primarily derived from European populations.
Zhichao Wang, MD, Xing Hu, MD, PhD, Haoyang Mo, MD, Minxue Shen, PhD, Carlos G. Romo, MD, PhD, Katya Vera, BA, Zhixiong Liu, MD, PhD, Qingfeng Li, MD, PhD, Chuntao Li, MD, PhD, Kavita Y. Sarin, MD, PhD   +9 more
doaj   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1442-1451, June 2026.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Clinicopathological characteristics of patients with inoperable non‐small cell lung cancer harboring circulating NRF2 pathway mutations

The Journal of Pathology, Volume 269, Issue 2, Page 164-181, June 2026.
Abstract Lung cancer is the leading cause of global cancer‐related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2‐related factor 2 (NRF2) is a redox‐regulated transcription factor frequently dysregulated in non‐small cell lung cancer (NSCLC), leading to aggressive disease and resistance to therapy.
Jouni Härkönen, Satu Tiainen, Jouni Kujala, Linnea Muhonen, Ponnuswamy Mohanasundaram, Tuomas Tikkanen, Ina Pöhner, Tommi Patinen, Simone Adinolfi, Juha P Väyrynen, Päivi Auvinen, Arto Mannermaa, Petri Pölönen, Tuomas Rauramaa, Anna‐Liisa Levonen   +14 more
wiley   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Loss of neurofibromin induces inflammatory macrophage phenotypic switch and retinal neovascularization via GLUT1 activation

Cell Reports
Summary: Persons with neurofibromatosis type 1 (NF1) exhibit enhanced glucose metabolism, which is replicated in Nf1-mutant mice. Inflammatory macrophages invest NF1-associated tumors, and targeting macrophages appears efficacious in NF1 models ...
Yusra Zaidi, Rebekah Tritz, Nida Zaidi, Faisal Nabi, Syed Adeel H. Zaidi, Abdelhakim Morsy, Valerie Harris, Rilee Racine, Farlyn Z. Hudson, Zsuzsanna Bordan, Simone Kennard, Robert Batori, Yuqing Huo, Gabor Csanyi, Eric J. Belin de Chantemèle, Kecheng Lei, Nicholas M. Boulis, David J. Fulton, Rizwan Hasan Khan, Ruth B. Caldwell, Brian K. Stansfield   +20 more
doaj   +1 more source

Conditional survival in glioblastoma: The evolution of prognostic factors over time

International Journal of Cancer, Volume 158, Issue 10, Page 2571-2580, 15 May 2026.
What's New? Neurooncologists rely on glioblastoma risk stratification systems for incorporating known disease‐ and patient‐specific factors at diagnosis. Although useful for general comparison and disease monitoring, these estimates are less informative for patients who survive beyond various time intervals post‐diagnosis.
Timothy Mueller, Flavio Vasella, Julia Velz, Stefanos Voglis, Kevin Akeret, Luis Padevit, Morton Schubert, Jonathan Weller, Sarah Brüningk, Elisabeth Rushing, Johannes Sarnthein, Dorothee Gramatzki, Levin Häni, Andreas Raabe, Anna M. Zeitlberger, Oliver Bozinov, Emilie Le Rhun, Michael Weller, Luca Regli, Marian C. Neidert   +19 more
wiley   +1 more source

Ccl5 establishes an autocrine high-grade glioma growth regulatory circuit critical for mesenchymal glioblastoma survival [PDF]

, 2017
Gutmann, David H, Hambardzumyan, Dolores, Ma, Yu, Pan, Yuan, Smithson, Laura J   +4 more
core   +2 more sources

The HIT Network for Children and Adolescents With CNS Tumors Facilitates Improvements of Diagnostic Assessments, Multimodal Treatments, Individual Counseling, and Research in Germany, Austria, and Switzerland

Pediatric Blood &Cancer, Volume 73, Issue 5, May 2026.
ABSTRACT Background The HIT network was established in 2000 to create a population‐based structure aiming to improve survival rates and reduce late effects for children with central nervous system (CNS) tumors by conducting comprehensive clinical trials.
Stefan Rutkowski, Michael C. Frühwald, Gudrun Fleischhack, Stephan Tippelt, Pablo Hernáiz‐Driever, Olaf Witt, Astrid Gnekow, Christof Kramm, Matthias Eyrich, Johannes E. A. Wolf, Hermann Müller, Carsten Friedrich, Uwe R. Kordes, Denise Obrecht‐Sturm, Petra Ketteler, Barbara von Zezschwitz, Pascal Johann, Dominik Sturm, Karoline Nemes, Stefan Schönberger, Till Milde, Brigitte Bison, Monika Warmuth‐Metz, Torsten Pietsch, Ulrich Schüller, Arend Koch, David Capper, Martin Hasselblatt, Christian Thomas, Christian Hagel, Stefan M. Pfister, Felix Sahm, David T. W. Jones, Martin U. Schuhmann, Jürgen Krauss, Pedram Emami, Ahmed El Damaty, Rolf D. Kortmann, Rudolf Schwarz, Jürgen Debus, Mechthild Krause, Fabian Pohl, Holger Ottensmeier, Lisa Bußenius, Katja Baust, Andreas Faldum, Cecile Ronckers, Desiree Grabow, Martin Benesch, Thomas Perwein, Karin Dieckmann, Irene Slavc, Johannes Gojo, Nicolas U. Gerber, André O. von Bueren, Katrin Scheinemann, Gabriele Calaminus, Beate Timmermann, Ulrich‐Wilhelm Thomale, Martin Mynarek   +59 more
wiley   +1 more source

Tumor mutational burden as a determinant of metastatic dissemination patterns

Molecular Oncology, Volume 20, Issue 5, Page 1364-1378, May 2026.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal, Andrea Moreno‐Manuel, Miguel Salvadó‐Pertierra, Cristina Santos‐Vivas, Rebeca Sanz‐Pamplona   +4 more
wiley   +1 more source