Results 71 to 80 of about 241,061 (333)

Missense Mutation in AR-CGD

, 2012
Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known nicotinamide adenine dinucleotide phosphate (NADPH) -oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to
Hüseyin Avcılar, M. Yavuz Köker
openaire   +4 more sources

Circulating tumor DNA (ctDNA) trajectories predict survival in trifluridine/tipiracil‐treated metastatic colorectal cancer patients

Molecular Oncology, EarlyView.
The authors applied joint/mixed models that predict mortality of trifluridine/tipiracil‐treated metastatic colorectal cancer patients based on circulating tumor DNA (ctDNA) trajectories. Patients at high risk of death could be spared aggressive therapy with the prospect of a higher quality of life in their remaining lifetime, whereas patients with a ...
Matthias Unseld, Stefan Kühberger, Ricarda Graf, Christine Beichler, Markus Braun, Nadia Dandachi, Ellen Heitzer, Gerald W. Prager   +7 more
wiley   +1 more source

Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency

Romanian Journal of Laboratory Medicine, 2019
Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) caused by SERPING1 mutations is a rare monogenic disorder characterized by a high frequency of de novo mutations, allelic heterogeneity and populational differences.
Gábos Gabriella, Moldovan Dumitru, Dobru Daniela, Mihály Enikő, Bara Noémi, Nădășan Valentin, Hutanu Adina, Csép Katalin   +7 more
doaj   +1 more source

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

Rare missense mutations in P2RY11 in narcolepsy with cataplexy [PDF]

Brain, 2017
The sleep disorder narcolepsy with cataplexy is characterized by a highly specific loss of hypocretin (orexin) neurons, leading to the hypothesis that the condition is caused by an immune or autoimmune mechanism. All genetic variants associated with narcolepsy are immune-related. Among these are single nucleotide polymorphisms in the P2RY11-EIF3G locus.
Degn, Matilda, Dauvilliers, Yves, Dreisig, Karin, Lopez, Régis, Pfister, Corinne, Pradervand, Sylvain, Rahbek Kornum, Birgitte, Tafti, Mehdi   +7 more
openaire   +3 more sources

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. [PDF]

PLoS ONE, 2017
OBJECTIVE:N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD).
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang   +11 more
doaj   +1 more source

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively.
Anton, J., Armstrong, J., Artuch, R., Asteggiano, Carla Gabriela, Balcells, S., Delgado, María Andrea, Grinberg, D., Lapunzina, P., Martorell, L., Nevado, J., Sangorrin, A., Sarrión, P., Torner, F., Urreizti, R., Vilaseca, M. A.   +14 more
core   +1 more source

MET and NF2 alterations confer primary and early resistance to first‐line alectinib treatment in ALK‐positive non‐small‐cell lung cancer

Molecular Oncology, EarlyView.
Alectinib resistance in ALK+ NSCLC depends on treatment sequence and EML4‐ALK variants. Variant 1 exhibited off‐target resistance after first‐line treatment, while variant 3 and later lines favored on‐target mutations. Early resistance involved off‐target alterations, like MET and NF2, while on‐target mutations emerged with prolonged therapy.
Jie Hu, Ning Ding, Xiaobo Xu, Yedan Chen, Yong Zhang, Jingwen Liu, Jiebai Zhou, Hairong Bao, Donghui Zhang, Yijun Song, Yang Shao, Yuanlin Song   +11 more
wiley   +1 more source

Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E. [PDF]

PLoS ONE, 2013
The HOXB13 missense mutation G84E (rs138213197) is associated with increased risk of prostate cancer, but the current estimate of increased risk has a wide confidence interval (width of 95% confidence interval (CI) >200-fold) so the point estimate of 20 ...
Robert J MacInnis, Gianluca Severi, Laura Baglietto, James G Dowty, Mark A Jenkins, Melissa C Southey, John L Hopper, Graham G Giles   +7 more
doaj   +1 more source