Results 211 to 220 of about 640,277 (286)

The First Heterozygous <i>TWNK</i> Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases. [PDF]

Biomolecules
Lopergolo D, Berti G, Gallus GN, Bianchi S, Santorelli FM, Malandrini A, De Stefano N.   +6 more
europepmc   +1 more source

Functional assessment of inherited myeloid neoplasm‐associated SAMD9L germline variants via Monoallelic CRISPR modelling

British Journal of Haematology, EarlyView.
Summary While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate ‘Myeloid malignancies with germline predisposition’ as a distinct clinical entity, carrying major implications for clinical care and research.
Elena Vuelta, Alessandro Liquori, Matias Morín, Lucia Soletto, Miguel Ángel Marugal, Marta Santiago‐Balsera, Miguel Gallardo, Miguel Ángel Moreno‐Pelayo, José Cervera, Alejandra Sanjuan‐Pla   +9 more
wiley   +1 more source

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report. [PDF]

Sci Prog
Cadena-Ullauri S, Tamayo-Trujillo R, Paz-Cruz E, Guevara-Ramírez P, Ruiz-Pozo VA, Cuenca FA, Zambrano AK.   +6 more
europepmc   +1 more source

ALT phenotype assessment in IDH‐mutant astrocytoma supports biologic consequence of ATRX missense mutations

Brain Pathology, EarlyView.
A meaningful subset of IDH‐mutant astrocytoma harbors ATRX missense variants that retain ATRX IHC immunoreactivity yet exhibit functional ALT activation, supporting the biologic relevance of these missense mutations.
Oguzhan O. Kizilkaya, Kevin Y. Zhang, Mohamed Sherief, Debraj Mukherjee, Chetan Bettegowda, Matthias Holdhoff, Victoria Croog, Solmaz Sahebjam, David O. Kamson, Jordina Rincon‐Torroella, Karisa C. Schreck, Charles G. Eberhart, Alan Meeker, Calixto‐Hope G. Lucas   +13 more
wiley   +1 more source

Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases. [PDF]

Nucleic Acids Res
Bhat SY, Bhattacharya A, Li H, Cui X, Lueck JD, Goldman YE, Cooperman BS.   +6 more
europepmc   +1 more source

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other embryonal tumors

Brain Pathology, EarlyView.
Resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other CNS embryonal tumors are provided. Abstract WHO CNS5 mandates integrated histo‐molecular classification of medulloblastomas (MBs) and other CNS embryonal tumors. However, advanced molecular diagnostics remain inaccessible in many low‐ and lower‐middle‐
Chitra Sarkar, Maysa Al‐Hussaini, Vani Santosh, Vaishali Suri, Sung‐Hye Park, Yue‐Shan Piao, Tarik Tihan, Ho‐Keung Ng, Michael Buckland, Rakesh Jalali, Yonehiro Kanemura, Pieter Wesseling, Takashi Komori   +12 more
wiley   +1 more source

Marked improvement in severe pulmonary arterial hypertension following airway infection in a patient with a heterozygous BMP9 nonsense mutation: a case report. [PDF]

Eur Heart J Case Rep
Sakurai M, Yamaguchi Y, Takasawa K, Hosokawa S, Ishii T.   +4 more
europepmc   +1 more source

Elucidating PI3K/AKT/PTEN Pathway Alterations at Single‐Cell Level in CTCs From HR+/HER2− Metastatic Breast Cancer

Cancer Science, EarlyView.
Single CTC analysis revealed extensive inter‐ and intra‐patient heterogeneity of PI3K/AKT/PTEN pathway alterations in HR+/HER2− metastatic breast cancer, capturing both SNVs and CNAs, including PTEN loss‐of‐function events. Longitudinal CTC profiling also uncovered dynamic clonal evolution, highlighting its potential to complement tissue and ctDNA ...
Tania Rossi, Michela Palleschi, Caterina Gianni, Filippo Merloni, Alessandra Virga, Sara Bandini, Davide Angeli, Michela Tebaldi, Roberta Maltoni, Paola Ulivi, Antonino Musolino   +10 more
wiley   +1 more source

A novel nonsense mutation in <i>SCAF4</i> associated with fliedner-zweier syndrome: a case report and review of the literature. [PDF]

Front Genet
Chen Z, Zhao J, Fan X, Xuan X, Zhao X.
europepmc   +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