Results 191 to 200 of about 22,467,747 (285)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Chromosomal and immune dysregulation underlying granular mitosis in glioblastoma

Brain Pathology, EarlyView.
Granular mitosis (GM) morphology is linked to PI3K/PTEN pathway alterations, chromosomal disorganization, and impaired innate immunity. Cells exhibiting GM morphology are associated with localized immune responses within their immediate spatial microenvironment.
Rachel Barboza, Xuan Wang, August Lin, Eric Liu, Pramath Kakodkar, Yayuan Zhao, Quinn Le, Christina A. Castellani, Qi Zhang   +8 more
wiley   +1 more source

Nearest‐neighbors assisted unsupervised analysis for methylation array profiling for central nervous system tumors

Brain Pathology, EarlyView.
The NN method identifies the five nearest reference dataset neighbors to a tested sample and provides an objective estimation of the tested sample methylation class cluster rather than relying on subjective visualization using dimensionality reduction methods such as UMAP and t‐SNE.
Mallika Gandham, Surendra Dasari, Cherisse Marcou, Stephanie Smoley, Matthew Isaacson, Caterina Giannini, Aditya Raghunathan, Rachael A. Vaubel, M. Adelita Vizcaino Villalobos, Aivi Nguyen, Jorge A. Trejo‐Lopez, Kenneth Aldape, Cristiane M. Ida   +12 more
wiley   +1 more source

The DNA/RNA Helicase SETX Maintains R‐Loop Homeostasis to Promote Chemoresistance in Ovarian Cancer

Cancer Science, EarlyView.
SETX maintains R‐loop homeostasis by resolving excessive R‐loops, thereby promoting tumor initiation and chemoresistance. Deficiency of SETX leads to accumulation of unsolved pathological R‐loops, resulting in irreparable DNA damage and ultimately leading to tumor suppression and chemosensitivity.
Zi‐Wei Hu, Tu‐Nan Xu, Zi‐Ying Wang, Xin Zheng, Duan‐Yong Feng, Xiao‐Min Wang, Er‐Suo Jin, Ming Ren, Xiao‐Min Yang, Xian‐Chao Zhang, Xuan Che, Wei‐Wei Pan, Zha‐Jun Zhan, Shu‐Qun Cheng   +13 more
wiley   +1 more source

Machine Learning‐Derived Immune Gene Signature Predicts Prognosis and Therapeutic Vulnerabilities in Multiple Myeloma

Cancer Science, EarlyView.
An immune‐related 12‐gene signature developed through integrative machine learning stratified overall survival across multiple myeloma cohorts and remained independently associated with outcome. Single‐cell, somatic mutation, and transcriptome‐based drug‐response analyses further linked the signature to multicellular bone marrow context, distinct ...
Kai Wang, Chenfei Zhao, Jingru Shi, Shiwei Liu, Yi Chen, Jujuan Wang, Zhengxu Sun, Sanmei Wang, Lei Fan, Jin Fan, Xiaoyan Qu   +10 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Repositioning Non‐Ablative Fractional Lasers ‐ Molecular and Histological Insights from a scoping review

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Near‐infrared non‐ablative fractional lasers (NAFL) are established for skin rejuvenation and scar treatment and have attracted interest for their expanding therapeutic potential. This scoping review aims to revisit and reposition NAFL within a fluence‐dependent continuum of tissue modulation, based on evidence from 27 studies of lasers ...
Guy Erlich, Uwe Paasch, Kevin Jacobsen, Merete Haedersdal, Uffe Høgh Olesen   +4 more
wiley   +1 more source

AB019. Clinical chromosomal microarray analysis in Singapore

Annals of Translational Medicine, 2017
Breana Cham, Angeline Lai
openaire   +2 more sources

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source