Results 231 to 240 of about 123,315 (302)

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Genotype and clinical phenotype characteristics of MAX germline mutation-associated pheochromocytoma/paraganglioma syndrome. [PDF]

Front Endocrinol (Lausanne)
Lian B, Lu J, Fang X, Zhang Y, Wang W, He Y, Yu H, Li F, Wang J, Chen W, Qi X.   +10 more
europepmc   +1 more source

From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort

British Journal of Haematology, EarlyView.
Targeted next‐generation sequencing combined with a structured interpretative framework integrating gene–disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying ...
Alessandra Giannella, Fabrizio Vianello, Simone Zoletto, Arianna Magrini, Ilaria Gianesello, Gianni Binotto, Nicolo’ Danesin, Jessica Ceccato, Giulia Gualtiero, Maria Piazza, Samuela Carraro, Valeria Carabotta, Francesco Cinetto, Alessandro Cellini, Marco Carraro, Carmela Gurrieri, Laura Pavan, Francesco Piazza, Andrea Visentin, Walter Ageno, Livio Trentin, Giulio Ceolotto   +21 more
wiley   +1 more source

Novel <i>LZTR1</i> germline mutation as a mechanism of resistance to osimertinib in <i>EGFR</i>-mutated lung adenocarcinoma: a case report. [PDF]

Transl Lung Cancer Res
Park W, Fricke J, Mambetsariev I, Velasquez G, Nadaf-Rahrov R, Dingal ST, Kim P, Babikian R, Amini A, Afkhami M, Salgia R.   +10 more
europepmc   +1 more source

Diagnosis and management of neutropenia in adults: Expert guidance

British Journal of Haematology, EarlyView.
Severe neutropenia can result from decreased production of neutrophil precursors in the bone marrow, as in the case of severe congenital neutropenia, or from increased utilization of neutrophils or their accelerated destruction as for drug‐induced neutropenia or autoimmune neutropenia. Severe chronic neutropenia increases susceptibility to bacterial or
Karl Welte, Cornelia Zeidler, Julia Skokowa, Sabine Mellor‐Heineke, Audrey Anna Bolyard, David Dale   +5 more
wiley   +1 more source

Correction for Zhu et al., Population size interacts with reproductive longevity to shape the germline mutation rate. [PDF]

Proc Natl Acad Sci U S A
europepmc   +1 more source

Fertility Preservation in BRCA1/2 Germline Mutation Carriers: An Overview. [PDF]

Life (Basel)
Silvestris E, Cormio G, Loizzi V, Corrado G, Arezzo F, Petracca EA.   +5 more
europepmc   +1 more source

The ‘Prostate Cancer Screening for People at Genetic Risk of Aggressive Disease’ (PATROL) study

BJU International, EarlyView.
Background Inherited (germline) pathogenic and likely pathogenic variants (gPVs) in key genes associated with increased risk of prostate cancer (PCa) now warrant more attentive PCa screening per National Comprehensive Cancer Network (NCCN) guidelines—e.g., BRCA2, HOXB13, ATM, BRCA1, MSH2, MSH6, CHEK2 and TP53.
Heather H. Cheng, Kara N. Maxwell, Keyan Salari, Matthew R. Cooperberg, Kristin Follmer, Joanne M. Jeter, Grace Jun, Daniel J. Lee, Hiten D. Patel, Edward M. Schaeffer, Alexandra O. Sokolova, Erika M. Wolff, Daniel W. Lin   +12 more
wiley   +1 more source

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

Brain Pathology, EarlyView.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood, Gabriel Zangirolani, Jinho Lee, Melanie H. Hakar, Tanaya Neff, Kevin Y. Zhang, Christopher L. Corless   +6 more
wiley   +1 more source

Artificial intelligence‐based statistical modeling delineates architectural distortion in focal cortical dysplasia

Brain Pathology, EarlyView.
Histopathological identification of subtle cortical architectural abnormalities in focal cortical dysplasia (FCD) resections remains challenging. We investigated if artificial intelligence (AI)‐based morphometric and spatial analysis of NeuN‐stained cortical sections could detect neuronal architectural disorganization in epilepsy resections, including ...
Andrew Cannon, Roland Tian, Blake Ebner, Robert E. Watson Jr., Brian Burkett, Jamie Van Gompel, Lily C. Wong‐Kisiel, Christopher P. Hartley, Roger K. Moreira, Aditya Raghunathan   +9 more
wiley   +1 more source