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JOURNAL ARTICLE
Yinghua Lan, Wen Zeng, Yu Wang, Xian Dong, Xiaoping Shen, Yangguang Gu, Wei Zhang, Hongguang Lu
Solar ultraviolet (UV) radiation-induced DNA damage is a major risk factor for skin cancer development. UV-induced redistribution of melanin near keratinocyte nuclei leads to the formation of a supranuclear cap, which acts as a natural sunscreen and protects DNA by absorbing and scattering UV radiation. However, the mechanism underlying the intracellular movement of melanin in nuclear capping is poorly understood. In this study, we found that OPN3 is an important photoreceptor in human epidermal keratinocytes and is critical for UVA-mediated supranuclear cap formation...
March 3, 2023: Communications Biology
#22
JOURNAL ARTICLE
Prashanth Ganekal, Basavaraj Vastrad, Satish Kavatagimath, Chanabasayya Vastrad, Shivakumar Kotrashetti
Background and Objectives: A subject with diabetes and obesity is a class of the metabolic disorder. The current investigation aimed to elucidate the potential biomarker and prognostic targets in subjects with diabetes and obesity. Materials and Methods: The next-generation sequencing (NGS) data of GSE132831 was downloaded from Gene Expression Omnibus (GEO) database. Functional enrichment analysis of DEGs was conducted with ToppGene. The protein-protein interactions network, module analysis, target gene-miRNA regulatory network and target gene-TF regulatory network were constructed and analyzed...
February 7, 2023: Medicina
#23
JOURNAL ARTICLE
Peishan Wang, Qiao Wei, Hongfu Li, Zhi-Ying Wu
BACKGROUND: Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. SPTLC1 was recently identified as a disease-causative gene for JALS, which has rarely been reported in Asian populations. Little is known regarding the difference in clinical features between JALS patients carrying FUS and SPTLC1 mutations. This study aimed to screen mutations in JALS patients and to compare the clinical features between JALS patients with FUS and SPTLC1 mutations...
February 21, 2023: Chinese Medical Journal
#24
EDITORIAL
Anne-Florence Blandin, Ross Giglio, Maya Srikanth Graham, Guadalupe Garcia, Seth Malinowski, Jared K Woods, Shakti Ramkissoon, Lori Ramkissoon, Frank Dubois, Kathleen Schoolcraft, Jessica Tsai, Dayle Wang, Robert Jones, Jayne Vogelzang, Kristine Pelton, Sarah Becker, Fiona Watkinson, Claire Sinai, Elizabeth F Cohen, Matthew A Booker, Michael Y Tolstorukov, Veerle Haemels, Liliana Goumnerova, Karen Wright, Mark Kieran, Katie Fehnel, David Reardon, Arnault Tauziede-Espariat, Rishi Lulla, Benjamin Carcamo, Stanley Chaleff, Alain Charest, Frederik De Smet, Azra H Ligon, Adrian Dubuc, Melanie Pages, Pascale Varlet, Patrick Y Wen, Brian M Alexander, Susan Chi, Sanda Alexandrescu, Ralf Kittler, Robert Bachoo, Pratiti Bandopadhayay, Rameen Beroukhim, Keith L Ligon
PURPOSE: Anaplastic lymphoma kinase (ALK) aberrations have been identified in pediatric-type infant gliomas, but their occurrence across age groups, functional effects, and treatment response has not been broadly established. EXPERIMENTAL DESIGN: We performed a comprehensive analysis of ALK expression and genomic aberrations in both newly generated and retrospective data from 371 glioblastomas (156 adult, 205 infant/pediatric, and 10 congenital) with in vitro and in vivo validation of aberrations...
July 14, 2023: Clinical Cancer Research
#25
Léo-Paul Secco, Louis Libbrecht, Elsa Seijnhaeve, Silke Eggers, Anne-France Dekairelle, An-Katrien De Roo
Epithelioid fibrous histiocytoma (EFH) is a type of uncommon skin tumor mostly harboring Anaplastic Lymphoma Kinase ( ALK ) gene rearrangement, with different fusion partners reported. Whether this tumor is a separate entity or has a relationship with conventional fibrous histiocytomas is still a matter of debate. Benign course is the rule after complete surgical excision. A rare subtype of EFH with fusiform cells has been described, with specific fusion partners. Inflammatory myofibroblastic tumor (IMT) is a type of soft tissue tumor rarer than EFH, and it can display distant metastases...
January 3, 2023: Dermatopathology (Basel, Switzerland)
#26
JOURNAL ARTICLE
Xingyuan Pan, Qian Hong, Xucong Lu, Zhengzheng Li, Luxi Wang, Weian Chen, Sipei Pan
PURPOSE: Perry disease is a rare autosomal dominant neurodegenerative disorder with core features of parkinsonism, depression, apathy, weight loss, and central hyperventilation. To date, few cases of Perry disease have been reported worldwide, and they are all due to mutations in the DCTN1 gene. We report a case of a Chinese pedigree. METHODS: Clinical information was collected from a Chinese pedigree. Brain magnetic resonance imaging, pulmonary function tests, and arterial blood gas analysis were performed on both the proband and his youngest aunt...
January 3, 2023: Behavioural Brain Research
#27
JOURNAL ARTICLE
Giacomina Rossi, Erika Salvi, Elkadia Mehmeti, Martina Ricci, Cristina Villa, Sara Prioni, Fabio Moda, Giuseppe Di Fede, Pietro Tiraboschi, Veronica Redaelli, Cinzia Coppola, Giacomo Koch, Elisa Canu, Massimo Filippi, Federica Agosta, Giorgio Giaccone, Paola Caroppo
Semantic and right temporal variant of frontotemporal dementia (svFTD and rtvFTD) are rare clinical phenotypes in which, in most cases, the underlying pathology is TDP-43 proteinopathy. They are usually sporadic disorders, but recent evidences suggest a higher frequency of genetic mutations for the right temporal versus the semantic variant. However, the genetic basis of these forms is not clear. In this study we performed a genetic screening of a single-center cohort of svFTD and rtvFTD patients, aiming at identifying the associated genetic variants...
2022: Frontiers in Aging Neuroscience
#28
JOURNAL ARTICLE
Chunyan Li, Chunhuan Ren, Yale Chen, Mingming Wang, Jun Tang, Yan Zhang, Qiangjun Wang, Zijun Zhang
Cryopreservation may reduce sperm fertility due to cryodamage including physical-chemical and oxidative stress damages. As a powerful antioxidant, melatonin has been reported to improve cryoprotective effect of sperm. However, the molecular mechanism of melatonin on cryopreserved ram sperm hasn't been fully understand. Give this, this study aimed to investigate the postthaw motility parameters, antioxidative enzyme activities and lipid peroxidation, as well as proteomic, metabolomic changes of Huang-huai ram spermatozoa with freezing medium supplemented with melatonin...
February 20, 2023: Journal of Proteomics
#29
JOURNAL ARTICLE
L P Zhang, Y F Wang
Objective: To clarify the pathogenicity and further explore the association between genotype and clinical phenotype of this variant, analyzing a novel variation of SPAST gene in hereditary spastic paraplegia (HSP) family from Changzhi city, Shanxi Province. Methods: A family with HSP was tracked and collected in Neurology Department of Heping Hospital Affiliated to Changzhi Medical College in October 2019. Peripheral venous blood of 2 ml was extracted from the proband and 8 other members of the family, genomic DNA was extracted from the blood samples, and the genes of spastic paraplegia were screened by next-generation sequencing (NGS)...
December 1, 2022: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
#30
JOURNAL ARTICLE
Lilit Karapetyan, William Gooding, Aofei Li, Xi Yang, Andrew Knight, Hassan M Abushukair, Danielle Vargas De Stefano, Cindy Sander, Arivarasan Karunamurthy, Monica Panelli, Walter J Storkus, Ahmad A Tarhini, John M Kirkwood
We sought to develop a sentinel lymph node gene expression signature score predictive of disease recurrence in patients with cutaneous melanoma. Gene expression profiling was performed on SLN biopsies using U133A 2.0 Affymetrix gene chips. The top 25 genes associated with recurrence-free survival (RFS) were selected and a penalized regression function was used to select 12 genes with a non-zero coefficient. A proportional hazards regression model was used to evaluate the association between clinical covariates, gene signature score, and RFS...
October 11, 2022: Cancers
#31
JOURNAL ARTICLE
X X Liu, X H Duan, S Zhang, A P Sun, Y S Zhang, D S Fan
OBJECTIVE: To analyze the distribution characteristics of hereditary peripheral neuropathy (HPN) pathogenic genes in Chinese Han population, and to explore the potential pathogenesis and treatment prospects of HPN and related diseases. METHODS: Six hundred and fifty-six index patients with HPN were enrolled in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to May 2022. The PMP22 duplication and deletion mutations were screened and validated by multiplex ligation probe amplification technique...
October 18, 2022: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
#32
Pramod Krishnan, Gosala R K Sarma, Uday Murgod, Murali Srinivas, Ajit K Roy
Objective: To characterize the first patient of Perry syndrome reported from India. Methods: A 62-year-old gentleman presented with acute encephalopathy, hypercapnia, central hypoventilation, and seizures. He required ventilatory support for persistent respiratory failure even after the resolution of the encephalopathy. History revealed symptoms of orthostatic hypotension, episodes of shallow breathing, unsteadiness of gait, anxiety and depression, and significant weight loss for the previous two years...
July 2022: Annals of Indian Academy of Neurology
#33
JOURNAL ARTICLE
Josephine K Dermawan, Sara E DiNapoli, Kerry A Mullaney, Purvil Sukhadia, Narasimhan P Agaram, Brendan C Dickson, Cristina R Antonescu
Anaplastic lymphoma kinase (ALK) fusions are oncogenic drivers in diverse cancer types. Although well established in inflammatory myofibroblastic tumor (IMT) and epithelioid fibrous histiocytoma (EFH), ALK rearrangements also occur in the emerging family of kinase fusion-positive mesenchymal neoplasms. We investigated 9 ALK-rearranged mesenchymal neoplasms (exclusive of IMT and EFH) arising in 6 males and 3 females with a wide age range of 10 to 78 years old (median 42 years). Tumors involved superficial and deep soft tissue (6) and viscera (3)...
February 2023: Genes, Chromosomes & Cancer
#34
JOURNAL ARTICLE
Liling Dong, Jie Wang, Caiyan Liu, Jie Li, Chenhui Mao, Xinying Huang, Shanshan Chu, Bin Peng, Liying Cui, Jing Gao
BACKGROUND: There are relatively few data on the genetic spectrum of Chinese frontotemporal dementia (FTD) population. OBJECTIVE: With the dementia cohort of Peking Union Medical College Hospital, we aim to illustrate the genetic spectrum of FTD patients, as well as the phenotypic heterogeneity of FTD-gene variant carriers. METHODS: 204 unrelated, clinically diagnosed FTD patients of Chinese ancestry were enrolled. All the participants received demographic survey, history inquiry, physical examination, cognitive assessment, blood biochemical test, brain CT/MRI, and gene sequencing...
August 8, 2022: Journal of Alzheimer's Disease: JAD
#35
Jeremy Boardman, Maria Mascareno Ponte, Amina Chaouch, Christopher Kobylecki
Background: Perry syndrome is a rare autosomal dominant parkinsonian disorder characterized by respiratory failure. The variability in respiratory presentation in this condition is incompletely understood. Cases: We report 2 first-degree relatives with Perry syndrome attributed to the same mutation in the Dynactin 1 (DCTN1) gene. Their clinical presentations with respect to parkinsonism and respiratory failure were heterogeneous. The proband presented with acute respiratory failure requiring invasive ventilation on a background of parkinsonism and remains alive more than 3 years later with a good levodopa response...
August 2022: Movement Disorders Clinical Practice
#36
JOURNAL ARTICLE
Miguel Tábuas-Pereira, Isabel Santana, Elizabeth Gibbons, Kimberly Paquette, Maria Rosário Almeida, Inês Baldeiras, Jose Bras, Rita Guerreiro
Introduction: Frontotemporal dementia (FTD) is considered to be part of a continuum with amyotrophic lateral sclerosis (ALS). Many genes are associated with both ALS and FTD. Yet, many genes associated with ALS have not been shown to cause FTD. We aimed to study a Portuguese cohort of FTD patients, searching for variants in genes associated with both FTD and/or ALS. Methods: We included 57 thoroughly characterized index FTD patients from our memory clinic, who were not carriers of pathogenic variants in GRN, MAPT or C9orf72 ...
2022: Frontiers in Neurology
#37
JOURNAL ARTICLE
Xuewen Xiao, Qijie Yang, Yafei Wen, Bin Jiao, Xinxin Liao, Yafang Zhou, Ling Weng, Hui Liu, Tianyan Xu, Yuan Zhu, Lina Guo, Lu Zhou, Xin Wang, Xixi Liu, Xiangyun Bi, Yingzi Liu, Sizhe Zhang, Weiwei Zhang, Jinchen Li, Beisha Tang, Lu Shen
BACKGROUND: Genetics plays an important role in progressive supranuclear palsy (PSP) and remains poorly understood. A detailed literature search identified 19 PSP-associated genes: MAPT, LRRK2, LRP10, DCTN1, GRN, NPC1, PARK, TARDBP, TBK1, BSN, GBA, STX6, EIF2AK3, MOBP, DUSP10, SLCO1A2, RUNX2, CXCR4, and APOE. To date, genetic studies on PSP have focused on Caucasian population. The gaps in PSP genetic study on East Asian populations need to be filled. METHODS: Exon and flanking regions of the PSP-associated genes were sequenced in 104 patients with PSP and 488 healthy controls...
October 1, 2022: Neurobiology of Disease
#38
JOURNAL ARTICLE
Xinbei Liu, Jessica L Henty-Ridilla
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease caused by more than sixty genes identified through classic genetic linkage analysis and new sequencing methods. Yet no clear mechanism of onset, cure, or effective treatment is known. Popular discourse classifies the proteins encoded from ALS-related genes into four disrupted processes: proteostasis, mitochondrial function and ROS, nucleic acid regulation, and cytoskeletal dynamics. Surprisingly mechanisms detailing the contribution of the neuronal cytoskeletal in ALS are arguably the least explored, despite essential involvement in each of these cell processes...
June 14, 2022: Experimental Neurology
#39
JOURNAL ARTICLE
Jarosław Dulski, Catalina Cerquera-Cleves, Lukasz Milanowski, Jolanta Kwiatek-Majkusiak, Dariusz Koziorowski, Owen A Ross, Jolanta Pentela-Nowicka, Jarosław Sławek, Zbigniew K Wszolek
INTRODUCTION: A marked response to L-Dopa and L-Dopa-induced dyskinesia (LID) make the diagnosis of Parkinson's disease (PD) highly likely. This paper evaluates response to L-Dopa in Perry syndrome (PS), parkinsonism with distinct molecular and neuropathologic characteristics. METHODS: Six patients with PS with a mean follow-up of 5 years (0.5-12) were assessed by movement disorder specialists and video recorded in states off and on. Additionally, DATSCAN-SPECT was performed in 3 subjects...
July 2022: Parkinsonism & related Disorders
#40
REVIEW
Fangzhi Jia, Avi Fellner, Kishore Raj Kumar
Parkinson's disease may be caused by a single pathogenic variant (monogenic) in 5-10% of cases, but investigation of these disorders provides valuable pathophysiological insights. In this review, we discuss each genetic form with a focus on genotype, phenotype, pathophysiology, and the geographic and ethnic distribution. Well-established Parkinson's disease genes include autosomal dominant forms ( SNCA , LRRK2 , and VPS35 ) and autosomal recessive forms ( PRKN , PINK1 and DJ1 ). Furthermore, mutations in the GBA gene are a key risk factor for Parkinson's disease, and there have been major developments for X-linked dystonia parkinsonism...
March 7, 2022: Genes
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