Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I
, 2013 Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant disorder. Deletion or mutation of the TRPS1 gene leads to the tricho-rhino-phalangeal syndromes type I or type III.
Nan, Xu +6 more
core +1 more source
Identification of a novel BRAF Thr599dup mutation in lung adenocarcinoma
Open Medicine, 2018 BRAF mutations are known as oncogenic drivers of non-small cell lung cancer (NSCLC). BRAF inhibition has demonstrated anti-tumor activity in patients with BRAF V600E mutant NSCLC. Further molecular screening for novel BRAF thr599dup mutation is warranted.
Zhang Xuefei +6 more
doaj +1 more source
Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential
FEBS Letters, EarlyView.Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta +3 more
wiley +1 more source
The role of PIK3CA gene mutations in colorectal cancer and the selection of treatment strategies
Frontiers in PharmacologyPIK3CA gene encodes the p110α catalytic subunit of PI3K, which regulates the PI3K/AKT/mTOR signaling pathway. PIK3CA gene mutation is one of the most common mutations in colorectal cancer (CRC), affecting about 15%–20% of CRC patients.
Haitao Wang +3 more
doaj +1 more source
An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes
FEBS Letters, EarlyView.GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg +14 more
wiley +1 more source
Structure‐forward targeting of claudins with synthetic binders
FEBS Letters, EarlyView.Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley +1 more source
Evolution strategies with q-Gaussian mutation for dynamic optimization problems [PDF]
, 2010 This article is posted here with permmission from IEEE - Copyright @ 2010 IEEEEvolution strategies with q-Gaussian mutation, which allows the self-adaptation of the mutation distribution shape, is proposed for dynamic optimization problems in this paper.
Yang, S +5 more
core +1 more source
Prognostic analysis of patients with mutant and wild-type EGFR gene lung adenocarcinoma
Cancer Management and Research, 2019 Hongmei Zheng, Yuting Zhang, Yuting Zhan, Sile Liu, Junmi Lu, Juan Feng, Xia Wu, Qiuyuan Wen, Songqing FanDepartment of Pathology, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, People’s Republic of ChinaPurpose: The
Zheng H +8 more
doaj
Discerning protein pools by selective staining with self‐labeling tags
FEBS Letters, EarlyView.Cell surface proteins have an intra‐ and extracellular pool. Combining genetic fusion to self‐labeling tags that can be addressed with small molecule fluorophores allows separating these pools. We highlight recent developments and techniques for state‐of‐the‐art interrogation of cell surface proteins in the complex tissue setting.
Kati Fischermanns, Johannes Broichhagen
wiley +1 more source
Genetic studies of familial myeloproliferative disorders [PDF]
, 2007 Hereditary thrombocythemia (HT) is an autosomal dominant disorder with clinical features resembling sporadic essential thrombocythemia. HT families share similar clinical symptoms caused by heterogeneous genetic alterations.
Liu, Kun
core +1 more source