Results 101 to 110 of about 29,886 (297)

Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. [PDF]

, 2007
CONTEXT: Limited screening suggests that three germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are not involved in sporadic pituitary tumorigenesis.
Barlier, Anne, Beckers, Albert, Bours, Vincent, Brue, Thierry, Cazabat, Laure, Daly, Adrian, Enjalbert, Alain, Jaffrain-Rea, Marie-Lise, Silvy, Monique, Tamagno, Gianluca, Trouillas, Jacqueline, Vanbellinghen, Jean-François   +11 more
core   +4 more sources

Targeting the GPX4–FUNDC1 Interaction with Magnesium Lithospermate B Attenuates Sepsis‐Associated Lung Injury

Advanced Science, EarlyView.
The diagram depicts the endothelial‐protective mechanism of magnesium lithospermate B (MLB) in sepsis‐associated lung injury. MLB binds GPX4 at Gly79, disrupts its interaction with FUNDC1, prevents mitophagy‐mediated GPX4 degradation, restores mitophagic flux, reduces ROS, and limits ferroptosis.
Zhixi Li, Chang Liu, Zhaoxue Ma, Dongyou Zheng, Renkai Wang, Yongjing Yu, Guangmin Chen, Chenglong Li, Yue Bu, Hang Cao, Bing Zhang   +10 more
wiley   +1 more source

Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry

Frontiers in Genetics, 2019
Background: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder and the leading genetic cause of infant mortality. Early detection of SMA through newborn screening (NBS) is essential to selecting pre-symptomatic treatment and ...
Yiming Lin, Yiming Lin, Chien-Hsing Lin, Xiaoshan Yin, Lin Zhu, Jianbin Yang, Yuyan Shen, Chiju Yang, Xigui Chen, Haili Hu, Qingqing Ma, Xueqin Shi, Yaping Shen, Zhenzhen Hu, Chenggang Huang, Xinwen Huang   +15 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia [PDF]

, 2012
BACKGROUND/AIM:X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadic hypogonadism. It is caused by deletions or point mutations of the NR0B1 gene, on Xp21. AHC can be associated with
Barbaro, Michela, Bens, Susanne, Brämswig, Jürgen, Haake, Andrea, Holterhus, Paul-Martin, Lopez-Siguero, Juan Pedro, Menken, Udo, Mix, Monika, Peter, Michael, Riepe, Felix G, Sippell, Wolfgang G, Wedell, Anna   +11 more
core   +1 more source

Genetic Heterogeneity in Uveal Melanoma Assessed by Multiplex Ligation-Dependent Probe Amplification

Investigative Opthalmology & Visual Science, 2010
To determine intratumor genetic heterogeneity in uveal melanoma (UM) by multiplex ligation-dependent probe amplification (MLPA) in formalin-fixed, paraffin-embedded (FFPE) tumor tissues.DNA was extracted from whole tumor sections and from two to nine different areas microdissected from 32 FFPE UMs.
Justyna, Dopierala, Bertil E, Damato, Sarah L, Lake, Azzam F G, Taktak, Sarah E, Coupland   +4 more
openaire   +2 more sources

Targeting IL27RA Enhances Immunotherapy in Triple‐Negative Breast Cancer by Modulating Tumor Cells and the Tumor Microenvironment

Advanced Science, EarlyView.
IL27RA upregulation drives immune evasion in TNBC by suppressing MHC‐I expression and reprogramming T/NK‐cell states, establishing an immune‐excluded tumor phenotype. Targeting this epithelial‐intrinsic IL27RA–PI3K/AKT axis offers a promising strategy to overcome immunotherapy resistance.
Jiachi Xu, Qian Long, Meirong Zhou, Qitong Chen, Jing Peng, Qingchun Liang, Danhua Zhang, Hui Zhou, Wenjun Yi   +8 more
wiley   +1 more source

ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.

PLoS ONE, 2013
Prevalence of ESR1 amplification in breast cancer is highly disputed and discrepancies have been related to different technical protocols and different scoring approaches.
Cathy B Moelans, Frederik Holst, Olaf Hellwinkel, Ronald Simon, Paul J van Diest   +4 more
doaj   +1 more source

Congenital adrenal hyperplasia: Diagnostic advances [PDF]

, 2018
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core   +1 more source

A conformational RNA zipper promotes intron ejection during non-conventional XBP1 mRNA splicing. [PDF]

, 2015
The kinase/endonuclease IRE1 is the most conserved signal transducer of the unfolded protein response (UPR), an intracellular signaling network that monitors and regulates the protein folding capacity of the endoplasmic reticulum (ER).
Acosta-Alvear, Diego, Mendez, Aaron S, Peschek, Jirka, Walter, Peter   +3 more
core   +1 more source

Multiplex Ligation-Dependent Probe Amplification [PDF]

The Journal of Molecular Diagnostics, 2006
Judith Jeuken, Sandra Cornelissen, Sandra Boots-Sprenger, Sabine Gijsen, Pieter Wesseling   +4 more
openaire   +1 more source