Search Results - "Mak, C Y"
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Deregulated Gab2 phosphorylation mediates aberrant AKT and STAT3 signaling upon PIK3R1 loss in ovarian cancer
Published in Nature communications (12-02-2019)“…Copy number loss of PIK3R1 (p85α) most commonly occurs in ovarian cancer among all cancer types. Here we report that ovarian cancer cells manifest a spectrum…”
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Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology
Published in Nature communications (28-03-2022)“…To identify genetic determinants of airway dysfunction, we performed a transcriptome-wide association study for asthma by combining RNA-seq data from the nasal…”
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3
SOX9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression
Published in PLoS genetics (01-11-2011)“…Cartilage and endochondral bone development require SOX9 activity to regulate chondrogenesis, chondrocyte proliferation, and transition to a non-mitotic…”
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4
p85β regulates autophagic degradation of AXL to activate oncogenic signaling
Published in Nature communications (08-05-2020)“…PIK3R2 encodes the p85β regulatory subunit of phosphatidylinositol 3-kinase and is frequently amplified in cancers. The signaling mechanism and therapeutic…”
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5
Rise in intraocular pressure with elevator travel in post-vitrectomy patients
Published in Scientific reports (28-08-2023)“…To evaluate the impact of elevator travel on intraocular pressure after vitreoretinal surgery with gas tamponade. Patients undergoing pars plana vitreoretinal…”
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6
Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness
Published in Scientific reports (22-07-2022)“…Variability in response to short-acting β 2 -agonists (e.g., albuterol) among patients with asthma from diverse racial/ethnic groups may contribute to asthma…”
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Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function
Published in JAMA neurology (01-10-2014)“…The identification of a patient with a rare form of severe dysbetalipoproteinemia allowed the study of the consequences of total absence of apolipoprotein E…”
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Brief Report: Whole‐Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-09-2016)“…Objective Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome‐wide association studies have…”
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Author Correction: Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology
Published in Nature communications (03-10-2022)Get full text
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10
OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps
Published in Genome Biology (01-12-2017)“…We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and…”
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11
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Published in Human genomics (05-10-2023)“…Abstract Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single…”
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Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium
Published in Nature communications (12-10-2020)“…Coronavirus disease 2019 (COVID-19) is caused by SARS-CoV-2, an emerging virus that utilizes host proteins ACE2 and TMPRSS2 as entry factors. Understanding the…”
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13
Expression of SMARCD1 interacts with age in association with asthma control on inhaled corticosteroid therapy
Published in Respiratory research (28-01-2020)“…Global gene expression levels are known to be highly dependent upon gross demographic features including age, yet identification of age-related genomic…”
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14
Epidemiology of myopia and prevention of myopia progression in children in East Asia: a review
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01-12-2018)“…Myopia (short-sightedness) exhibits high prevalence in East Asia. Methods to mitigate myopia progression are important in preventing the vision-threatening…”
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15
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Published in Npj genomic medicine (28-12-2022)“…RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance…”
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Fundus Autofluorescence and Optical Coherence Tomography Characteristics in Different Stages of Central Serous Chorioretinopathy
Published in Journal of ophthalmology (2021)“…Objective. To describe the morphological changes on fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) imaging at…”
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The Contemporary Role of Photodynamic Therapy in the Treatment of Pachychoroid Diseases
Published in Journal of ophthalmology (2021)“…Recent advances in retinal imaging technology have improved our understanding in the pathogenesis and evolvement of various chorioretinal diseases. Central…”
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Drugging IGF-1R in cancer: New insights and emerging opportunities
Published in Genes & diseases (01-01-2023)“…The insulin-like growth factor (IGF) axis plays important roles in cancer development and metastasis. The type 1 IGF receptor (IGF-1R) is a key member in the…”
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An epistatic interaction between pre-natal smoke exposure and socioeconomic status has a significant impact on bronchodilator drug response in African American youth with asthma
Published in BioData mining (03-07-2020)“…Asthma is one of the leading chronic illnesses among children in the United States. Asthma prevalence is higher among African Americans (11.2%) compared to…”
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Bicycle and Motorcycle Wheel Spoke Injury in Children
Published in Journal of orthopaedic surgery (Hong Kong) (01-04-2015)“…Purpose. To review bicycle and motorcycle wheel spoke injuries around the foot and ankle in 24 children. Methods. Medical records of 12 boys and 12 girls aged…”
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