Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
JOURNAL ARTICLE
Wenxin Huang, Mengyuan Dai, Taotao Qiu, Tingting Liang, Jiayu Xie, Chenyang Mi, Jingsong Zhao, Weina Chen, Peng Tian, Shuming Zhang, Huidong Zhang
Normal pregnancy is essential for human reproduction. However, BaP (benzo(a)pyrene) and its metabolite BPDE (benzo(a)pyrene-7,8-dihydrodiol-9,10-epoxide) could cause dysfunctions of human trophoblast cells and might further induce miscarriage. Yet, the underlying mechanisms remain largely unknown. Herein, we identified a novel upregulated lnc-HZ04 and a novel downregulated miR-hz04 in villous tissues of unexplained recurrent miscarriage (RM) relative to those in healthy control tissues and also in BPDE-treated human trophoblast cells...
September 2021: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
#22
JOURNAL ARTICLE
Nidaa A Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Nour Sharar, Sabal Al Hadidi, Renata M Alatoom, Suzan Zalloum, Mohammad H Gharandouq, Leen Makahleh, Leena N Alnsour, Hebah Alshahwan, Mohammed El-Khateeb, Abdalla Awidi
Limb-girdle muscular dystrophies (LGMDs) are a large group of heterogenous genetic diseases characterized by muscle weakness. In this study, an induced pluripotent stem cell (iPSC) line was generated from LGMD patient's skin dermal fibroblasts, carrying a homozygous mutation in the Sarcoglycan Beta (SGCB) gene; chr4:52890221, c. 859 delC, p.Lue 287Ser fs14*. The reprogramming process was carried out using Sendai viruses encoding for Yamanaka factors. The resulting iPSCs showed normal morphology and karyotype, expressed pluripotency markers, demonstrated the potential to differentiate in vitro into three germ layers and retained the disease-causing SGCB mutation...
May 11, 2021: Stem Cell Research
#23
JOURNAL ARTICLE
L Ten Dam, M de Visser, Ieke B Ginjaar, Hermine A van Duyvenvoorde, Silvana van Koningsbruggen, Anneke J van der Kooi
BACKGROUND: A Dutch cohort of 105 carefully selected limb girdle muscular dystrophy (LGMD) patients from 68 families has been subject to genetic testing over the last 20 years. After subsequent targeted gene analysis around two thirds (45/68) of the families had received a genetic diagnosis in 2013. OBJECTIVE: To describe the results of further genetic testing in the remaining undiagnosed limb girdle muscular dystrophy families in this cohort. METHODS: In the families of the cohort for whom no genetic diagnosis was established (n = 23) further testing using Sanger sequencing, next generation sequencing with gene panel analysis or whole-exome sequencing was performed...
2021: Journal of Neuromuscular Diseases
#24
MULTICENTER STUDY
Jorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, Pia Gallano, Claudio Semplicini, Elena Pegoraro, Vittoria Zangaro, Andrés Nascimento, Carlos Ortez, Giacomo Pietro Comi, Leroy Ten Dam, Marianne De Visser, A J van der Kooi, Cristina Garrido, Manuela Santos, Ulrike Schara, Andrea Gangfuß, Nicoline Løkken, Jesper Helbo Storgaard, John Vissing, Benedikt Schoser, Gabriele Dekomien, Bjarne Udd, Johanna Palmio, Adele D'Amico, Luisa Politano, Vincenzo Nigro, Claudio Bruno, Chiara Panicucci, Anna Sarkozy, Omar Abdel-Mannan, Alicia Alonso-Jimenez, Kristl G Claeys, David Gomez-Andrés, Francina Munell, Laura Costa-Comellas, Jana Haberlová, Marie Rohlenová, De Vos Elke, Jan L De Bleecker, Cristina Dominguez-González, Giorgio Tasca, Claudia Weiss, Nicolas Deconinck, Roberto Fernández-Torrón, Adolfo López de Munain, Ana Camacho-Salas, Béla Melegh, Kinga Hadzsiev, Lea Leonardis, Blaz Koritnik, Matteo Garibaldi, Juan Carlos de Leon-Hernández, Edoardo Malfatti, Arturo Fraga-Bau, Isabelle Richard, Isabel Illa, Jordi Díaz-Manera
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe...
September 1, 2020: Brain
#25
JOURNAL ARTICLE
Yue Dai, Elizabeth A Sweeny, Simon Schlanger, Arnab Ghosh, Dennis J Stuehr
Soluble guanylyl cyclase (sGC) is a key component of nitric oxide (NO)-cGMP signaling in mammals. Although heme must bind in the sGC β1 subunit (sGCβ) for sGC to function, how heme is delivered to sGCβ remains unknown. Given that glyceraldehyde 3-phosphate dehydrogenase (GAPDH) displays properties of a heme chaperone for inducible NO synthase, we investigated here whether heme delivery to apo-sGCβ involves GAPDH. We utilized an sGCβ reporter construct, tetra-Cys sGCβ (TC-sGCb), whose heme insertion can be followed by fluorescence quenching in live cells, assessed how lowering cell GAPDH expression impacts heme delivery, and examined whether expressing either a wild-type GAPDH or a GAPDH variant defective in heme binding recovers the heme delivery...
April 30, 2020: Journal of Biological Chemistry
#26
REVIEW
Anandhan Dhanasingh, Claude N Jolly, Gunesh Rajan, Paul van de Heyning
This study aims to obtain a better understanding of the number and distribution of spiral ganglion cell bodies (SGCBs) in the central modiolar trunk of the human cochlea with normal hearing as well as with hearing loss due to various pathological conditions. A detailed PubMed search was performed using the key words "human spiral ganglion cell population," "analysis of spiral ganglion cell population," "survival of human spiral ganglion cells," "human Rosenthal's canal," "human ganglion cell counts," and "distribution of human spiral ganglion cells" to identify articles published between 1931 and 2019...
March 25, 2020: Journal of International Advanced Otology
#27
JOURNAL ARTICLE
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali
BACKGROUND: Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high consanguineous marriages like Iran. In the present study, we aimed to investigate the genetic basis of patients who are suspicious of being affected by LGMDR. DNA samples of 60 families suspected of LGMD were extracted from their whole blood...
January 14, 2020: Orphanet Journal of Rare Diseases
#28
JOURNAL ARTICLE
Jorge A Bevilacqua, Maria Del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C Franca, Steven Vargas, Madhuri Hegde, Kristl G Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic girdles. An important differential diagnosis among patients presenting with proximal muscle weakness (PMW) is late-onset Pompe disease (LOPD), a rare neuromuscular glycogen storage disorder, which often presents with early respiratory insufficiency in addition to PMW...
January 13, 2020: Orphanet Journal of Rare Diseases
#29
JOURNAL ARTICLE
Anandhan E Dhanasingh, Gunesh Rajan, Paul van de Heyning
The purpose of this study was to obtain a better understanding of the number and distribution of spiral ganglion cell bodies (SGCB) in the central modiolus trunk of the human cochlea with normal hearing as well as with hearing loss due to various pathological conditions. A literature review was performed using the key words 'human spiral ganglion cell population', 'analysis of spiral ganglion cell population', 'survival of human spiral ganglion cells', 'human Rosenthal's canal', 'human ganglion cell counts', and 'distribution of human spiral ganglion cells' to identify articles published between 1968 and 2018...
May 2020: Cochlear Implants International
#30
JOURNAL ARTICLE
Eirini Tarsani, Andreas Kranis, Gerasimos Maniatis, Santiago Avendano, Ariadne L Hager-Theodorides, Antonios Kominakis
Aim of the present study was to investigate whether body weight (BW) in broilers is associated with functional modular genes. To this end, first a GWAS for BW was conducted using 6,598 broilers and the high density SNP array. The next step was to search for positional candidate genes and QTLs within strong LD genomic regions around the significant SNPs. Using all positional candidate genes, a network was then constructed and community structure analysis was performed. Finally, functional enrichment analysis was applied to infer the functional relevance of modular genes...
June 24, 2019: Scientific Reports
#31
JOURNAL ARTICLE
Berk Özyilmaz, Özgür Kirbiyik, Taha R Özdemir, Özge Kaya Özer, Yaşar B Kutbay, Kadri M Erdogan, Merve Saka Güvenç, Murat Yildirim Kale, Hande Gazeteci, Betül Kiliç, Filiz Sertpoyraz, Gulden Diniz, Figen Baydan, Pinar Gençpinar, Nihal Olgaç Dündar, Uluç Yiş
INTRODUCTION: Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is important in the evaluation of LGMD. METHODS: In this report, we applied a custom target capture-based NGS panel covering 31 LGMD-associated genes (MYOT, LMNA, CAV3, DES, DNAJB6, FLNC, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32, FRKP, TTN, POMT1, ANO5, FKTN, POMT2, POMGnT1, DAG1, PLEC, GAA, GMPPB, HNRNPDL, TNPO3, LIMS2, POMK, TRAPPC11, ISPD) in 74 patients suspected of LGMD...
September 2019: Annals of Human Genetics
#32
JOURNAL ARTICLE
Gaoyan La, Mouwang Zhou, Jae-Young Lim, Seunglyul Oh, Huayi Xing, Nan Liu, Yanyan Yang, Xiaoxie Liu, Lijun Zhong
BACKGROUND/AIMS: The aim of this study was to confirm the beneficial effects of electrical stimulation on denervated skeletal muscle and explore a novel underlying mechanism. METHODS: Morphological and contractile analyses were performed on rats allocated to three groups: sham operation (SHAM), denervated (DN), and denervated and electrical stimulation (DN-SM). Proteomics, transcriptomics, bioinformatics, and skeletal muscle functional modules analysis were conducted to determine the changes in molecular expression resulting from electrical stimulation...
2019: Cellular Physiology and Biochemistry
#33
JOURNAL ARTICLE
Leroy Ten Dam, Wendy S Frankhuizen, Wim H J P Linssen, Chiara S Straathof, Erik H Niks, Karin Faber, Annemarie Fock, Jan B Kuks, Esther Brusse, René de Coo, Nicol Voermans, Aad Verrips, Jessica E Hoogendijk, Ludo van der Pol, Dineke Westra, Marianne de Visser, Anneke J van der Kooi, Ieke Ginjaar
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (<1%)...
August 2019: Clinical Genetics
#34
JOURNAL ARTICLE
Guo-Jie Qiao, Liang Chen, Jin-Cai Wu, Zhou-Ri Li
BACKGROUND: Hepatocellular carcinoma (HCC) remains one of the leading causes of cancer-related death worldwide. Despite recent advances in imaging techniques and therapeutic intervention for HCC, the low overall 5-year survival rate of HCC patients remains unsatisfactory. This study aims to find a gene signature to predict clinical outcomes in HCC. METHODS: Bioinformatics analysis including Cox's regression analysis, Kaplan-Meier (KM) and receiver operating characteristic curve (ROC) analysis and the random survival forest algorithm were performed to mine the expression profiles of 553 hepatocellular carcinoma (HCC) patients from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) public database...
2019: PeerJ
#35
Eskandar Taghizadeh, Hamed Abdolkarimi, Reza Boostani, Arianeh Sadrnabavi
Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in this patient not reported for our population. One of them was important clinically that exists as unreported homozygous deletion encompassing exon 2 of the Sarcoglycan Beta ( SGCB ) gene...
December 2018: Iranian Journal of Public Health
#36
JOURNAL ARTICLE
Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong, Yun Yuan
BACKGROUND: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. Knowledge about the clinical and genetic features of sarcoglycanopathies in Chinese patients is limited. The aims of this study were to investigate in detail the clinical manifestations, sarcoglycan expression, and gene mutations in Chinese patients with sarcoglycanopathies and to identify possible correlations between them...
February 14, 2019: Orphanet Journal of Rare Diseases
#37
JOURNAL ARTICLE
Marzieh Mojbafan, Ali Khajeh, Haleh Habibi, Hamideh Bagherian, Sirous Zeinali
INTRODUCTION: Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene. CAPN3 is a Ca2+ -dependent cystein protease consisting of 821 amino acids. LGMD is a highly heterogeneous disorder and mutation identification of this disease by Sanger sequencing of all genes is expensive and time consuming. Using autozygosity mapping is an effective approach to address this issue. METHODS: We used two sets of multiplex STR (Short tandem repeat) markers linked to CAPN3, DYSF, SGCA, SGCB, SGCG, SGCD genes following sequencing of the CAPN3 gene...
November 30, 2018: Gene
#38
JOURNAL ARTICLE
Gaia Giovannelli, Giorgia Giacomazzi, Hanne Grosemans, Maurilio Sampaolesi
INTRODUCTION: Limb-girdle muscular dystrophy type 2E (LGMD2E) is caused by mutations in the β-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscles. β-Sarcoglycan-deficient (Sgcb-null) mice develop severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. METHODS: In this study we performed morphological (histological and cellular characterization) and functional (isometric tetanic force and fatigue) analyses in dystrophic mice...
February 24, 2018: Muscle & Nerve
#39
JOURNAL ARTICLE
Alessio Rotini, Ester Martínez-Sarrà, Robin Duelen, Domiziana Costamagna, Ester Sara Di Filippo, Giorgia Giacomazzi, Hanne Grosemans, Stefania Fulle, Maurilio Sampaolesi
Sarcopenia is the age-related loss of muscle mass, strength, and function. Although the role of human satellite cells (SCs) as adult skeletal muscle stem cells has been deeply investigated, little is known about the impact of aging on muscle interstitial stem cells. Here, we isolated the non-SC CD56- fraction from human muscle biopsies of young and elderly subjects. The elderly interstitial cell population contained a higher number of CD15+ and PDGFRα+ cells when compared to young samples. In addition, we found that the CD56- /ALP+ cells were well represented as a multipotent stem cell population inside the CD56- fraction...
April 2018: Aging Cell
#40
JOURNAL ARTICLE
Soudeh Ghafouri-Fard, Feyzollah Hashemi-Gorji, Majid Fardaei, Mohammad Miryounesi
Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two children affected with LGMD type 2E. Mutation analysis revealed a novel homozygous exon 2 deletion of SGCB gene in the patients with the parents being heterozygous for this deletion...
2017: Iranian Journal of Child Neurology
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
