keyword
https://read.qxmd.com/read/38521976/landscape-of-genomic-structural-variations-in-indian-population-based-cohorts-deeper-insights-into-their-prevalence-and-clinical-relevance
#1
JOURNAL ARTICLE
Krithika Subramanian, Mehak Chopra, Bratati Kahali
Structural variations (SV) are large (> 50 bp) genomic rearrangements comprising deletions, duplications, insertions, inversions, and translocations. Studying SVs is important because they play active and critical roles in regulating gene expression, determining disease predispositions, and identifying population-specific differences among individuals of diverse ancestries. However, SV discoveries in the Indian population using whole-genome sequencing (WGS) has been limited. In this study, using short-read WGS having an average 42X depth of coverage, we identify and characterize 36,210 SVs from 529 individuals enrolled in population-based cohorts in India...
March 22, 2024: HGG advances
https://read.qxmd.com/read/38482432/a-centrosome-related-gene-signature-for-predicting-the-overall-survival-of-uveal-melanoma
#2
JOURNAL ARTICLE
Xin Yu, Xiaoyu Guo, Wenge Li, Juanjuan Li
BACKGROUND: Centrosome aberration (CA) plays a vital role in tumorigenesis and metastasis under pathophysiological conditions. The existence of CA was first reported in uveal melanoma (UVM) recently. Our study aimed to investigate the association of centrosome-related genes with UVM prognosis. METHODS: The Cancer Genome Atlas (TCGA)-UVM and Gene Expression Omnibus series (GSE) 22138 were included in the study. Least absolute shrinkage and selection operator (LASSO) and Cox regression were combined to screen out key genes and construct a centrosome-related gene signature...
February 29, 2024: Translational Cancer Research
https://read.qxmd.com/read/38072392/situs-ambiguus-is-associated-with-adverse-clinical-outcomes-in-children-with-primary-ciliary-dyskinesia
#3
JOURNAL ARTICLE
Kimberley R Kaspy, Sharon D Dell, Stephanie D Davis, Thomas W Ferkol, Margaret Rosenfeld, Scott D Sagel, Carlos Milla, Kenneth N Olivier, Andrew T Barber, Wallace Wee, Feng-Chang Lin, Lang Li, Emmanouil Rampakakis, Maimoona A Zariwala, Michael R Knowles, Margaret W Leigh, Adam J Shapiro
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement [situs solitus (SS)] or mirror image inversion [situs inversus totalis (SIT)]. RESEARCH QUESTION: Do patients with PCD and SA have worse clinical outcomes compared to those with SS or SIT? STUDY DESIGN AND METHODS: This cross-sectional, multicenter study evaluated participants ≤21 years with PCD...
December 8, 2023: Chest
https://read.qxmd.com/read/37998386/ciliary-ultrastructure-assessed-by-transmission-electron-microscopy-in-adults-with-bronchiectasis-and-suspected-primary-ciliary-dyskinesia-but-inconclusive-genotype
#4
JOURNAL ARTICLE
Ben O Staar, Jan Hegermann, Bernd Auber, Raphael Ewen, Sandra von Hardenberg, Ruth Olmer, Isabell Pink, Jessica Rademacher, Martin Wetzke, Felix C Ringshausen
Whole-exome sequencing has expedited the diagnostic work-up of primary ciliary dyskinesia (PCD), when used in addition to clinical phenotype and nasal nitric oxide. However, it reveals variants of uncertain significance (VUS) in established PCD genes or (likely) pathogenic variants in genes of uncertain significance in approximately 30% of tested individuals. We aimed to assess genotype-phenotype correlations in adults with bronchiectasis, clinical suspicion of PCD, and inconclusive whole-exome sequencing results using transmission electron microscopy (TEM) and ciliary image averaging by the PCD Detect software...
November 18, 2023: Cells
https://read.qxmd.com/read/37365321/genome-wide-association-study-identifies-novel-susceptibilities-to-adult-moyamoya-disease
#5
JOURNAL ARTICLE
Jin Pyeong Jeon, Eun Pyo Hong, Eun Jin Ha, Bong Jun Kim, Dong Hyuk Youn, Sungyoung Lee, Hee Chang Lee, Kang Min Kim, Sung Ho Lee, Won-Sang Cho, Hyun-Seung Kang, Jeong Eun Kim
Genome-wide association study has limited to discover single-nucleotide polymorphisms (SNPs) in several ethnicities. Here, we investigated an initial GWAS to identify genetic modifiers predicting with adult moyamoya disease (MMD) in Koreans. GWAS was performed in 216 patients with MMD and 296 controls using the large-scale Asian-specific Axiom Precision Medicine Research Array. A subsequent fine-mapping analysis was conducted to assess the causal variants associated with adult MMD. A total of 489,966 out of 802,688 SNPs were subjected to quality control analysis...
June 26, 2023: Journal of Human Genetics
https://read.qxmd.com/read/36873931/pathogenic-gene-variants-in-ccdc39-ccdc40-rsph1-rsph9-hydin-and-spef2-cause-defects-of-sperm-flagella-composition-and-male-infertility
#6
JOURNAL ARTICLE
I Aprea, A Wilken, C Krallmann, T Nöthe-Menchen, H Olbrich, N T Loges, G W Dougherty, D Bracht, C Brenker, S Kliesch, T Strünker, F Tüttelmann, J Raidt, H Omran
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting the function of motile cilia in several organ systems. In PCD, male infertility is caused by defective sperm flagella composition or deficient motile cilia function in the efferent ducts of the male reproductive system. Different PCD-associated genes encoding axonemal components involved in the regulation of ciliary and flagellar beating are also reported to cause infertility due to multiple morphological abnormalities of the sperm flagella (MMAF)...
2023: Frontiers in Genetics
https://read.qxmd.com/read/36245716/novel-compound-heterozygous-ccdc40-mutations-in-a-familial-case-of-primary-ciliary-dyskinesia
#7
JOURNAL ARTICLE
Liqing Zhao, Suqiu Huang, Wei Wei, Bingyao Zhang, Wenxiang Shi, Yongzhou Liang, Rang Xu, Yurong Wu
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the genetic basis for about 30% of PCD cases remains to be elucidated. Here, we present the identification and functional analysis of two novel mutations in the gene encoding coiled-coil domain-containing protein 40 (CCDC40), which are found in a familial case of PCD. These novel CCDC40 mutations, NM_017950.4: c.2236-2delA and c.2042_2046delTCACA, NP_060420...
2022: Frontiers in Pediatrics
https://read.qxmd.com/read/35869935/pathogenic-variants-identified-using-whole-exome-sequencing-in-chinese-patients-with-primary-ciliary-dyskinesia
#8
JOURNAL ARTICLE
Yutian Ye, Qijun Huang, Lipeng Chen, Fang Yuan, Shengguo Liu, Xiangxia Zhang, Rongchang Chen, Yingyun Fu, Yongjian Yue
The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder, remain elusive for ~20%-35% of patients with complex and abnormal clinical phenotypes. Our study aimed to identify causative variants of PCD-associated pathogenic candidate genes using whole-exome sequencing (WES). All patients were diagnosed with PCD based on clinical phenotype or transmission electron microscopy images of cilia. WES and bioinformatic analysis were then conducted on patients with PCD...
July 23, 2022: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/35854386/clinical-and-genetic-spectrum-of-primary-ciliary-dyskinesia-in-chinese-patients-a-systematic-review
#9
REVIEW
Bo Peng, Yong-Hua Gao, Jia-Qi Xie, Xiao-Wen He, Cong-Cong Wang, Jin-Fu Xu, Guo-Jun Zhang
BACKGROUND: Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about Chinese patients are limited. We aimed to summarize the clinical and genetic spectrum of Chinese PCD patients based on all available literatures. METHODS: We searched Embase, Pubmed, Web of Science and Chinese databases including CNKI, SinoMed and Wanfang from 1981 to 2021, to identify articles reporting patients with PCD in China, which had included information about transmission electron microscopy and/or genetic testing...
July 19, 2022: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/35777446/longitudinal-nitric-oxide-levels-and-infections-by-ultrastructure-and-genotype-in-primary-ciliary-dyskinesia
#10
JOURNAL ARTICLE
Massimo Pifferi, Attilio L Boner, Serena Gracci, Rossella Fonnesu, Debora Maj, Gabriele Donzelli, Angela Michelucci, Angela Cangiotti, Veronica Bertini, Angelo Valetto, Maria Adelaide Caligo, Mario Miccoli, Diego Peroni, Andrew Bush
BACKGROUND: We hypothesized that differences in nasal nitric oxide (nNO) and fractional exhaled nitric oxide (Feno) relate to prognosis in primary ciliary dyskinesia (PCD). RESEARCH QUESTION: What is the relationship between baseline values and longitudinal evolution of nNO and Feno and ultrastructure, genotype, and respiratory infections in PCD? STUDY DESIGN: And Methods: Prospective, longitudinal, single-center study in adults and children evaluated biannually for up to 10 years...
June 28, 2022: Chest
https://read.qxmd.com/read/35518361/genetic-and-clinical-features-of-heterotaxy-in-a-prenatal-cohort
#11
JOURNAL ARTICLE
Tong Yi, Hairui Sun, Yuwei Fu, Xiaoyan Hao, Lin Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Xiaowei Liu, Yong Guo, Xin Wang, Xiaoxue Zhou, Siyao Zhang, Qi Yang, Jiaqi Fan, Yihua He
Objectives: Some genetic causes of heterotaxy have been identified in a small number of heterotaxy familial cases or animal models. However, knowledge on the genetic causes of heterotaxy in the fetal population remains scarce. Here, we aimed to investigate the clinical characteristics and genetic spectrum of a fetal cohort with heterotaxy. Methods: We retrospectively investigated all fetuses with a prenatal diagnosis of heterotaxy at a single center between October 2015 and November 2020. These cases were studied using the genetic testing data acquired from a combination of copy number variation sequencing (CNV-seq) and whole-exome sequencing (WES), and their clinical phenotypes were also reviewed...
2022: Frontiers in Genetics
https://read.qxmd.com/read/35449766/novel-compound-heterozygous-variants-in-ccdc40-associated-with-primary-ciliary-dyskinesia-and-multiple-morphological-abnormalities-of-the-sperm-flagella
#12
Yingjie Xu, Binyi Yang, Cheng Lei, Danhui Yang, Shuizi Ding, Chenyang Lu, Lin Wang, Ting Guo, Rongchun Wang, Hong Luo
Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by mutations of genes coding motile-cilia-related proteins. CCDC40 variants can cause PCD via disrupting the assembling of inner dynein and dynein regulating complex in cilia and flagella, but none has been reported associated with multiple morphological abnormalities of the sperm flagella (MMAF). We identified and validated the disease-causing variants in our patient via whole-exome and Sanger sequencing. We used high-speed video microscopy analysis (HSVA) and immunofluorescence to analyze the functional and structural deficiency of respiratory cilia...
2022: Pharmacogenomics and Personalized Medicine
https://read.qxmd.com/read/35433722/pulmonary-hypertension-in-a-patient-with-kartagener-s-syndrome-and-a-novel-homozygous-nonsense-mutation-in-ccdc40-gene-a-case-report
#13
Hai-Long Dai, Duolao Wang, Xue-Feng Guang, Wei-Hua Zhang
Kartagener's syndrome is a subgroup of primary ciliary dyskinesia (PCD), a genetically heterogeneous condition characterised by sinusitis, bronchiectasis, and situs in versus. Genetic testing has importance for their diagnosis. Here, we report a chinese patient with Kartagener's syndrome. Transthoracic echocardiography showed severely elevated right ventricular systolic pressure. Right heart catheterisation demonstrated a pre-capillary pulmonary hypertension. Whole-exome sequencing indicated that she had a novel homozygous nonsense mutation, c...
2022: Frontiers in Medicine
https://read.qxmd.com/read/35389161/ciliary-and-immune-dysfunctions-and-their-genetic-background-in-patients-with-non-cystic-fibrosis-bronchiectasis-in-central-iran
#14
JOURNAL ARTICLE
Shakiba Hassanzadeh, Somayeh Sadeghi, Mahbube Jafari, Somayeh Najafi, Newsha Molavi, Roya Sherkat
OBJECTIVE: Bronchiectasis is usually caused by recurrent bacterial infections and is characterized by irreversible dilation of the bronchi. In this study, we aimed to give an overview of the genetic backgrounds of patients with non-cystic fibrosis bronchiectasis (NCFB) that have been suspected to an underlying ciliary dysfunction or inborn error of immunity (IEI). METHOD: This is a retrospective cross-sectional study. Seventy-one NCFB patients who were referred to the Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran, from 1996 to 2020 were included...
April 7, 2022: Irish Journal of Medical Science
https://read.qxmd.com/read/34941110/ccdc40-mutation-as-a-cause-of-infertility-in-a-chinese-family-with-primary-ciliary-dyskinesia
#15
JOURNAL ARTICLE
Li Liu, Kechong Zhou, Yuxuan Song, Xiaoqiang Liu
TRIAL DESIGN: Primary ciliary dyskinesia (PCD) is a genetical disease that inherited in an autosomal-recessive way. Its clinical manifestations (such as male infertility) are mainly caused by defects of motion-related cilia that encoded by mutated genes. Although some mutation has been verified, a number of mutations of PCD remain elusive. The main purpose of this study is to identify mutant genes in a Chinese family with PCD, and to verify the safety and effectiveness of intracytoplasmic sperm injection (ICSI) of infertility caused by PCD...
December 23, 2021: Medicine (Baltimore)
https://read.qxmd.com/read/34768622/a-study-on-the-genetics-of-primary-ciliary-dyskinesia
#16
JOURNAL ARTICLE
Mohammed T Alsamri, Amnah Alabdouli, Durdana Iram, Alia M Alkalbani, Ayesha S Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan
Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD in indigenous patients with significant clinical respiratory problems. Pathogenicity scores of variants obtained from the chart review were consolidated using the Ensembl Variant Effect Predictor. The multidimensional dataset of scores was clustered into three groups based on their pathogenicity...
October 30, 2021: Journal of Clinical Medicine
https://read.qxmd.com/read/34689164/kinectin1-depletion-promotes-egfr-degradation-via-the-ubiquitin-proteosome-system-in-cutaneous-squamous-cell-carcinoma
#17
JOURNAL ARTICLE
Ji Ma, Shudong Ma, Ying Zhang, Yi Shen, Lei Huang, Tianhao Lu, Lu Wang, Yunhan Wen, Zhenhua Ding
Depletion of kinectin1 (KTN1) provides a potential strategy for inhibiting tumorigenesis of cutaneous squamous cell carcinoma (cSCC) via reduction of epidermal growth factor receptor (EGFR) protein levels. Yet, the underlying mechanisms of KTN1 remain obscure. In this study, we demonstrate that KTN1 knockdown induces EGFR degradation in cSCC cells by promoting the ubiquitin-proteasome system, and that this effect is tumor cell-specific. KTN1 knockdown increases the expression of CCDC40, PSMA1, and ADRM1 to mediate tumor suppressor functions in vivo and in vitro...
October 23, 2021: Cell Death & Disease
https://read.qxmd.com/read/34508138/an-integrated-analysis-of-mrnas-lncrnas-and-mirnas-based-on-weighted-gene-co-expression-network-analysis-involved-in-bovine-endometritis
#18
JOURNAL ARTICLE
Negin Sheybani, Mohammad Reza Bakhtiarizadeh, Abdolreza Salehi
In dairy cattle, endometritis is a severe infectious disease that occurs following parturition. It is clear that genetic factors are involved in the etiology of endometritis, however, the molecular pathogenesis of endometritis is not entirely understood. In this study, a system biology approach was used to better understand the molecular mechanisms underlying the development of endometritis. Forty transcriptomic datasets comprising of 20 RNA-Seq (GSE66825) and 20 miRNA-Seq (GSE66826) were obtained from the GEO database...
September 10, 2021: Scientific Reports
https://read.qxmd.com/read/34349594/the-relationship-between-genotype-and-phenotype-in-primary-ciliary-dyskinesia-patients
#19
JOURNAL ARTICLE
Ayse Ayzit Kilinc, Memnune Nur Cebi, Zeynep Ocak, Haluk Cezmi Cokugras
OBJECTIVES: Primary ciliary dyskinesia (PCD) is a chronic genetic disease that affects the respiratory tract, characterized by different clinical and laboratory features. It has a very difficult diagnosis, and high morbidity. In recent years, with the advances in genetics, the rate of diagnosis has increased considerably. In this study, it was aimed to evaluate the relationship between PCD patients' clinical, radiological and laboratory features and genetic analysis. METHODS: The study included 14 children who were diagnosed with PCD between 2015-2019 and underwent exome analysis...
2021: Şişli Etfal Hastanesi tıp bülteni
https://read.qxmd.com/read/34280480/different-combinations-of-high-frequency-rtms-and-cognitive-training-improve-the-cognitive-function-of-cerebral-ischemic-rats
#20
JOURNAL ARTICLE
Jiena Hong, Jiemei Chen, Yan Zeng, Xue Zhang, Mengshu Xie, Chao Li, Hongmei Wen
Poststroke cognitive impairment (PSCI) occurs frequently after stroke, but lacks effective treatments. Previous studies have revealed that high-frequency repetitive transcranial magnetic stimulation (rTMS) has a beneficial effect on PSCI and is often used with other cognitive training methods to improve its effect. This study aimed to evaluate the effect of different combinations of rTMS and cognitive training (rTMS-COG) on PSCI and identify the optimal combination protocol. A cerebral infarction rat model was established by transient middle cerebral artery occlusion (tMCAO)...
October 2021: Brain Research Bulletin
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