Results 271 to 280 of about 77,471 (339)

Mosaicism for Cohen–Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
Postzygotic EED mosaicism: c.1091G > T; p.(Trp364Leu) in a 12‐year‐old female with overgrowth–intellectual disability syndrome (Cohen–Gibson syndrome). Variant allele fractions: 31% blood, 30% saliva, 11%–17% buccal mucosa. This expands the spectrum of EED‐related disorders, highlighting mosaic screening for diagnosis, counselling, and future therapies.
Fei Song, Manuel Michels, Beate Betz, Walburga Vorhoff, Teresa Neuhann, Lisa Senninger, Dagmar Wieczorek   +6 more
wiley   +1 more source

Pathogenesis and molecular mechanisms of mutant TIE2-driven venous malformation. [PDF]

Angiogenesis
Bischoff LJ, Boscolo E.
europepmc   +1 more source

PIK3CA NP_006209.2:p.C420R [PDF]

, 2020
openaire   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Outcomes of elacestrant in patients with ER-positive, HER2-negative, ESR1-mutated metastatic breast cancer who received prior endocrine therapy and cyclin-dependent kinase inhibitor in a real-world setting. [PDF]

ESMO Open
Curigliano G, De Laurentiis M, Harbeck N, Kuemmel S, García-Sáenz JÁ, Bayona RS, Rea D, Okines A, Pistilli B, Sears E, Maitland J, Kloss S, Wasserman T, Ignatiadis M.   +13 more
europepmc   +1 more source

PIK3CA NP_006209.2:p.E545X [PDF]

, 2020
openaire   +1 more source

Genetic Evolution in BRCA1‐Associated Breast Cancer Reveals Early Driver Mutations Shaping Tumor Features and Prognosis

Cancer Science, Volume 117, Issue 10, Page 2863-2876, October 2026.
Multi‐region sequencing of 57 BRCA1‐associated breast cancers identified TP53 as the dominant initial driver, defining a triple‐negative subgroup with biallelic BRCA1 loss and elevated genomic instability. TP53 truncating mutations were enriched in BRCA1 carriers and linked to reduced HRD, EMT activation, and a trend toward worse survival.
Li Hu, Zhongwu Li, Qiting Wan, Xingyu Liao, Yaxin Zhang, Qian Liu, Xinyun Ding, Hua Meng, Yifan Wu, Jie Sun, Juan Zhang, Lu Yao, Ye Xu, Yuntao Xie   +13 more
wiley   +1 more source

Invasive lobular carcinoma harboring dual PIK3CA mutations and a CDH1 variant with prominent myxoid stroma: a case report. [PDF]

Int J Clin Exp Pathol
Koyanagi A, Kakumoto A, Kuroda H, Nakai M, Oshi M, Maeda I, Hirano A.   +6 more
europepmc   +1 more source

Genomic Evolution and Immune Contexture With Therapeutic Relevance in Pancreatic Neuroendocrine Neoplasms

Cancer Science, Volume 117, Issue 10, Page 2619-2635, October 2026.
Lineage‐dependent immunogenomic landscapes and biologically informed therapy in pancreatic neuroendocrine neoplasms. Pancreatic neuroendocrine neoplasms display lineage‐dependent immunogenomic landscapes, in which genomic alterations, epigenetic states, antigen‐presentation status, immune‐cell infiltration, and suppressive microenvironments co‐evolve ...
Yohei Tabe, Eito Nakagawa, Daisuke Asano, Eriko Katsuta, Daisuke Ban, Shogo Kumagai   +5 more
wiley   +1 more source

Hypoxia-induced exosomal LNCOC1 orchestrates bladder cancer progression via the YBX1/PIK3CA axis and serves as a potential liquid biopsy biomarker. [PDF]

Cell Oncol (Dordr)
Xu H, Yang C, Fu Q, Zeng S, Yang Y, Cao Z, Wang J, Xiao Y, Zhang X, Wang W.   +9 more
europepmc   +1 more source