Results 191 to 200 of about 163,521 (283)

A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report. [PDF]

Medicine (Baltimore)
Cao GH, Zhang AQ, Dong Y, Fan LL, Yin JY, Tang LL, Li YL.   +6 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication. [PDF]

EMBO Rep
Buco PAV, Castillo-Tandazo W, Chalk AM, Pilcher C, Holien JK, Heierhorst J, Tan TY, Koren A, Smeets MF, Walkley CR.   +9 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Pangenomic structural variant patterns reflect evolutionary diversification in Brassica napus. [PDF]

Genome Biol
Afsharyan NP, Golicz AA, Snowdon RJ.
europepmc   +1 more source

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

International Journal of Cancer, EarlyView.
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

Pilot evaluation of optical genome mapping in chronic lymphocytic leukemia: complementing FISH analysis. [PDF]

BMC Cancer
Erdem S, Bayrak Tokaç AG, Aday A, Karaca D, Mutlu MB, Çefle K, Yenerel MN, Öztürk Ş, Kalayoğlu Beşışık S.   +8 more
europepmc   +1 more source

bacNeo: A Computational Toolkit for Identifying Bacteria‐Derived Neoantigens in Human Cancers

iMetaMed, EarlyView.
We present bacterial neoantigen (bacNeo), a multi‐omics‐based computational software to classify bacterial components (BACC), type bacteria‐bound HLA alleles (BACH), and prioritize bacterial peptides as neoantigens (BACP). Bacterial neoantigen potential is quantified by score for peptide antigenicity recognition & kinetics (SPARK), enabling ...
Yunzhe Wang, Li Yuan, Katie W. Gu, Xiangdong Cheng, Bo Wen, Zhao Zhang   +5 more
wiley   +1 more source

Serum levels of PTEN and progranulin as potential diagnostic and prognostic biomarkers for severe pneumonia in the elderly. [PDF]

PeerJ
Ge Y, Lu W, Liu J, Liang H, Xu L.
europepmc   +1 more source

SPARK: A webserver for comprehensive search and analysis of testicular single‐cell transcriptomic data covering full lifecycle and pathology

iMetaOmics, EarlyView.
SPARK is an interactive platform hosting 189,232 human testicular single‐cell transcriptomes across normal and infertile conditions. It enables automated, code‐free analysis and visualization, providing a powerful resource to explore cellular and molecular dynamics in male reproduction and infertility.
Lina Cui, Xiaojian Lu, Hui Cai, Ziyan Zhuang, Yifei Guo, Qiaoling Jiang, Zhe Zhang, Hui Jiang, Xiaoyan Wang, Jingtao Guo   +9 more
wiley   +1 more source