Results 81 to 90 of about 13,098 (199)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.

PLoS Biology, 2019
Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferase KMT2D.
Maria de Los Angeles Serrano, Bradley L Demarest, Tarlynn Tone-Pah-Hote, Martin Tristani-Firouzi, H Joseph Yost   +4 more
doaj   +1 more source

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

S1 guideline sweat gland carcinoma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary The current classification of sweat gland carcinomas is based on histomorphological characteristics and distinguishes between more than 20 entities. Most patients are older, but some subtypes also affect middle‐aged and younger patients. The majority of tumors arise de novo. Sweat gland carcinomas have nonspecific clinical features.
Mirjana Ziemer, Michael Erdmann, Abbas Agaimy, Jürgen C. Becker, Almut Böer‐Auer, Doris Helbig, Cornelia Erfurt‐Berge, Alexander Frisman, Conrad Hempel, Ulrike Leiter, Friedegund Meier, Thomas Mentzel, Lara Racz, Silke Redler, Stefan Schliep, Clemens Seidel, Alpaslan Tasdogan, Jochen Utikal, Carsten Weishaupt, Selma Ugurel   +19 more
wiley   +1 more source

The Growth Supporting Role of ZDHHC11 Is Linked to the MEF2B–BCL6 Regulatory Circuit in Burkitt Lymphoma

International Journal of Cancer, Volume 159, Issue 6, Page 1535-1545, 15 September 2026.
MEF2B and BCL6 have established functions in germinal center B‐cell biology and lymphomagenesis. The mechanism of MEF2B deregulation and its significance for cell survival in Burkitt lymphoma however remain unclear. This study highlights MEF2B as a crucial transcription factor in Burkitt lymphoma and suggests ZDHHC11 as an upstream regulator of MEF2B ...
Lotteke J. Y. M. Ziel‐Swier, Karolina Rassek, Yichen Liu, Annika Seitz, Jasper Koerts, Debora de Jong, Bea Rutgers, Anastasiia Kompaniiets, Julia Przybył, Martine E. D. Chamuleau, Anke van den Berg, Agnieszka Dzikiewicz‐Krawczyk, Joost Kluiver   +12 more
wiley   +1 more source

Genomic profiling of Mexican patients with B‐cell precursor acute lymphoblastic leukemia reveals clinically significant somatic and potential germline variants

The Journal of Pathology: Clinical Research, Volume 12, Issue 5, September 2026.
Abstract B‐cell precursor acute lymphoblastic leukemia (preB‐ALL) is characterized by pathogenic variants currently used in precision oncology. However, the mutational landscape of Mexican children with preB‐ALL has not yet been thoroughly explored and defined in terms of the clinical significance.
Daniel Martínez Anaya, María del Rocío Juárez‐Velázquez, Ulises Juárez Figueroa, Michael Dean, Consuelo Salas Labadía, Marian Valladares Coyotecatl, Adriana Reyes León, Norma López Santiago, Luis Juárez Villegas, Marta Zapata Tarrés, Patricia Pérez‐Vera   +10 more
wiley   +1 more source

KMT2D Induces M1 Macrophage Polarization to Repress Non-small Cell Lung Cancer Progression via Transcription Activation of ITGAL

Iranian journal of pharmaceutical research
Background Recent evidence has demonstrated the crucial role of macrophage polarization in promoting non-small cell lung cancer (NSCLC) progression within the tumor microenvironment. Objectives This study investigated the possible regulatory mechanism of
Wen-Tao Wang, Jie Yang, Pengpeng Jiang
semanticscholar   +1 more source

First‐Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome

Prenatal Diagnosis, EarlyView.
Patrik Šimják, Jan Král, Dagmar Rašková, Monika Koudová, David Stejskal   +4 more
wiley   +1 more source

Decoding the Heterogeneity of Diffuse Large B‐Cell Lymphomas: A Comprehensive Genetic, Transcriptomic, and Phenotypic Profiling of B‐Cell Lymphoma Cell Lines

Hematological Oncology, Volume 44, Issue 5, September 2026.
ABSTRACT Diffuse large B‐cell lymphoma (DLBCL) is the most prevalent form of non‐Hodgkin lymphoma, exhibiting significant molecular and clinical heterogeneity. Advances in classification integrating phenotypic, genetic, and transcriptomic features have improved diagnosis and prognosis.
Marina Pérez‐Aguilera, Lucía Pedrosa, Sagrario Gómez, Sara Salazar‐Ortego, Ismael Fernández‐Miranda, Rafael Muñoz‐Viana, Paloma Martín‐Acosta, Beatriz L. Martín‐Lunas, Rebeca Jimeno, Natalia Yanguas‐Casás, Beatriz Horcajo, Giovana Roncador, José A. Martínez‐Climent, Ana Ortega‐Molina, Margarita Sánchez‐Beato   +14 more
wiley   +1 more source

KMT2D-deficiency destabilizes lineage progression in immature neural progenitors

Epigenetics Reports
Neurodevelopment is driven by the tightly regulated integration of chromatin shaping, transcription, and proliferation. Although KMT2D is known to catalyze activating H3K4 methylation marks at promoters and enhancers, its role in regulating early fate ...
Carly S. Golden, Pushpinder Bawa, Feiya Wang, Sandra Sulser Ponce De Leon, Olaf Bodamer, H. Joseph Yost, Maria A. Serrano   +6 more
doaj   +1 more source