keyword
https://read.qxmd.com/read/37628692/-sgcd-missense-variant-in-a-lagotto-romagnolo-dog-with-autosomal-recessively-inherited-limb-girdle-muscular-dystrophy
#1
JOURNAL ARTICLE
Barbara Brunetti, Barbara Bacci, Jessica Maria Abbate, Giorgia Tura, Orlando Paciello, Emanuela Vaccaro, Francesco Prisco, Gualtiero Gandini, Samuel Okonji, Andrea di Paola, Anna Letko, Cord Drögemüller, Vidhya Jagannathan, Maria Elena Turba, Tolulope Grace Ogundipe, Luca Lorenzini, Marco Rosati, Dimitra Psalla, Tosso Leeb, Michaela Drögemüller
An 8-month-old female Lagotto Romagnolo dog was presented for a 1-month history of an initial severe reluctance to move, rapidly progressing to a marked stiff gait and progressive muscular weakness and evolving to tetraparesis, which persuaded the owner to request euthanasia. A primary muscle pathology was supported by necropsy and histopathological findings. Macroscopically, the muscles were moderately atrophic, except for the diaphragm and the neck muscles, which were markedly thickened. Histologically, all the skeletal muscles examined showed atrophy, hypertrophy, necrosis with calcification of the fibers, and mild fibrosis and inflammation...
August 18, 2023: Genes
https://read.qxmd.com/read/37358754/differential-histological-features-and-myogenic-protein-levels-in-distinct-muscles-of-d-sarcoglycan-null-muscular-dystrophy-mouse-model
#2
JOURNAL ARTICLE
Carlos Palma-Flores, Luis Javier Cano-Martínez, Francisca Fernández-Valverde, Itzel Torres-Pérez, Sergio de Los Santos, J Manuel Hernández-Hernández, Adriana Fabiola Hernández-Herrera, Silvia García, Patricia Canto, Alejandro Zentella-Dehesa, Ramón Mauricio Coral-Vázquez
Skeletal muscle (SkM) comprises slow and fast-twitch fibers, which differ in molecular composition, function, and systemic energy consumption. In addition, muscular dystrophies (DM), a group of diverse hereditary diseases, present different patterns of muscle involvement, progression, and severity, suggesting that the regeneration-degeneration process may differ depending on the muscle type. Therefore, the study aimed to explore the expression of proteins involved in the repair process in different muscles at an early stage of muscular dystrophy in the δ-sarcoglycan null mice (Sgcd-null), a limb-girdle muscular dystrophy 2 F model...
June 26, 2023: Journal of Molecular Histology
https://read.qxmd.com/read/35999027/identification-of-a-sgcd-x-discrimination-interaction-effect-on-systolic-blood-pressure-in-african-american-adults-in-the-jackson-heart-study
#3
JOURNAL ARTICLE
Chu J Hsiao, Leanne Dumeny, Adam P Bress, Dayna A Johnson, Daichi Shimbo, Larisa H Cavallari, Connie J Mulligan
BACKGROUND: In the United States, hypertension disproportionately afflicts over half of African American adults, many of whom also experience racial discrimination. Understanding gene x discrimination effects may help explain racial disparities in hypertension. METHODS: We tested for main effects and interactive effects of five candidate single nucleotide polymorphisms (SNPs: rs2116737, rs11190458, rs2445762, rs2597955, rs2416545) and experiences of discrimination on blood pressure (BP) in African Americans not taking antihypertensive medications in the Jackson Heart Study from Mississippi (n=2933)...
August 24, 2022: American Journal of Hypertension
https://read.qxmd.com/read/34515763/clinical-and-genetic-spectrum-of-a-large-cohort-of-patients-with-%C3%AE-sarcoglycan-muscular-dystrophy
#4
JOURNAL ARTICLE
Jorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J Vílchez, Mario Emilio Dourado, Naz Kadem, Gultekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O Crawford, Xavier Suárez-Calvet, Ana Töpf, Michela Guglieri, Chiara Marini-Bettolo, Pia Gallano, Volker Straub, Jordi Díaz-Manera
Sarcoglycanopathies include 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. Delta-sarcoglycanopathy (LGMDR6) is the least frequent and is considered an ultra-rare disease. Our aim was to characterize the clinical and genetic spectrum of a large international cohort of LGMDR6 patients and to investigate whether or not genetic or protein expression data could predict a disease's severity...
April 18, 2022: Brain
https://read.qxmd.com/read/32905248/glucagon-like-peptide-1-receptor-and-sarcoglycan-delta-genetic-variants-can-affect-cardiovascular-risk-in-chronic-kidney-disease-patients-under-hemodialysis
#5
JOURNAL ARTICLE
Annalisa Terranegra, Teresa Arcidiacono, Lorenza Macrina, Caterina Brasacchio, Francesca Pivari, Alessandra Mingione, Sara Tomei, Massimo Mezzavilla, Lee Silcock, Mario Cozzolino, Nicola Palmieri, Ferruccio Conte, Marcella Sirtori, Alessandro Rubinacci, Laura Soldati, Giuseppe Vezzoli
Background: Chronic kidney disease (CKD) patients under hemodialysis show a higher risk of cardiovascular (CV) mortality and morbidity than the general population. This study aims to identify genetic markers that could explain the increased CV risk in hemodialysis. Methods: A total of 245 CKD patients under hemodialysis were recruited and followed up for 5 years to record CV events. Genetic analysis was performed using single-nucleotide polymorphisms (SNPs) genotyping by Infinium Expanded Multi-Ethnic Genotyping Array (Illumina, San Diego, CA, USA) comparing patients with and without a history of CV events [161 cardiovascular diseases (CVDs) and 84 no CVDs]...
August 2020: Clinical Kidney Journal
https://read.qxmd.com/read/31689918/lack-of-delta-sarcoglycan-sgcd-results-in-retinal-degeneration
#6
JOURNAL ARTICLE
Andric C Perez-Ortiz, Martha J Peralta-Ildefonso, Esmeralda Lira-Romero, Ernesto Moya-Albor, Jorge Brieva, Israel Ramirez-Sanchez, Carmen Clapp, Alexandra Luna-Angulo, Alvaro Rendon, Elva Adan-Castro, Gabriela Ramírez-Hernández, Nundehui Díaz-Lezama, Ramón M Coral-Vázquez, Francisco J Estrada-Mena
Age-related macular degeneration (AMD) is the leading cause of central vision loss and severe blindness among the elderly population. Recently, we reported on the association of the SGCD gene (encoding for δ-sarcoglycan) polymorphisms with AMD. However, the functional consequence of Sgcd alterations in retinal degeneration is not known. Herein, we characterized changes in the retina of the Sgcd knocked-out mouse (KO, Sgcd -/- ). At baseline, we analyzed the retina structure of three-month-old wild-type (WT, Sgcd+/+ ) and Sgcd -/- mice by hematoxylin and eosin (H&E) staining, assessed the Sgcd-protein complex (α-, β-, γ-, and ε-sarcoglycan, and sarcospan) by immunofluorescence (IF) and Western blot (WB), and performed electroretinography...
November 4, 2019: International Journal of Molecular Sciences
https://read.qxmd.com/read/31662020/antagonism-of-the-thromboxane-prostanoid-receptor-as-a-potential-therapy-for-cardiomyopathy-of-muscular-dystrophy
#7
JOURNAL ARTICLE
James D West, Cristi L Galindo, Kyungsoo Kim, John Jonghyun Shin, James B Atkinson, Ines Macias-Perez, Leo Pavliv, Bjorn C Knollmann, Jonathan H Soslow, Larry W Markham, Erica J Carrier
Background Muscular dystrophy (MD) causes a progressive cardiomyopathy characterized by diffuse fibrosis, arrhythmia, heart failure, and early death. Activation of the thromboxane-prostanoid receptor (TPr) increases calcium transients in cardiomyocytes and is proarrhythmic and profibrotic. We hypothesized that TPr activation contributes to the cardiac phenotype of MD, and that TPr antagonism would improve cardiac fibrosis and function in preclinical models of MD. Methods and Results Three different mouse models of MD (mdx/utrn double knockout, second generation mdx/mTR double knockout, and delta-sarcoglycan knockout) were given normal drinking water or water containing 25 mg/kg per day of the TPr antagonist ifetroban, beginning at weaning...
November 5, 2019: Journal of the American Heart Association
https://read.qxmd.com/read/31393948/absolute-expressions-of-hypoxia-inducible-factor-1-alpha-hif1a-transcript-and-the-associated-genes-in-chicken-skeletal-muscle-with-white-striping-and-wooden-breast-myopathies
#8
JOURNAL ARTICLE
Yuwares Malila, Krittaporn Thanatsang, Sopacha Arayamethakorn, Tanaporn Uengwetwanit, Yanee Srimarut, Massimiliano Petracci, Gale M Strasburg, Wanilada Rungrassamee, Wonnop Visessanguan
Development of white striping (WS) and wooden breast (WB) in broiler breast meat have been linked to hypoxia, but their etiologies are not fully understood. This study aimed at investigating absolute expression of hypoxia-inducible factor-1 alpha subunit (HIF1A) and genes involved in stress responses and muscle repair using a droplet digital polymerase chain reaction. Total RNA was isolated from pectoralis major collected from male 6-week-old medium (carcass weight ≤ 2.5 kg) and heavy (carcass weight > 2...
2019: PloS One
https://read.qxmd.com/read/30938105/deciphering-the-scalene-association-among-type-2-diabetes-mellitus-prostate-cancer-and-chronic-myeloid-leukemia-via-enrichment-analysis-of-disease-gene-network
#9
JOURNAL ARTICLE
Qiong Liu, Yingying Zhang, Pengqian Wang, Jun Liu, Bing Li, Yanan Yu, Hongli Wu, Ruixia Kang, Xiaoxu Zhang, Zhong Wang
The potential biological relationship between type-2 diabetes mellitus (T2DM) has been focused in numerous studies. To investigate the molecular associations among T2DM, prostate cancer (PCa), and chronic myeloid leukemia (CML), using a biomolecular network enrichment analysis. We obtained a list of disease-related genes and constructed disease networks. Then, GO enrichment analysis was performed to identify the significant functions and pathways of overlapping modules in the Database for Annotation, Visualization and Integrated Discovery (DAVID) database...
April 1, 2019: Cancer Medicine
https://read.qxmd.com/read/30517097/the-administration-of-high-mobility-group-box-1-fragment-prevents-deterioration-of-cardiac-performance-by-enhancement-of-bone-marrow-mesenchymal-stem-cell-homing-in-the-delta-sarcoglycan-deficient-hamster
#10
JOURNAL ARTICLE
Takashi Kido, Shigeru Miyagawa, Takasumi Goto, Katsuto Tamai, Takayoshi Ueno, Koichi Toda, Toru Kuratani, Yoshiki Sawa
OBJECTIVES: We hypothesized that systemic administration of high-mobility group box 1 fragment attenuates the progression of myocardial fibrosis and cardiac dysfunction in a hamster model of dilated cardiomyopathy by recruiting bone marrow mesenchymal stem cells thus causing enhancement of a self-regeneration system. METHODS: Twenty-week-old J2N-k hamsters, which are δ-sarcoglycan-deficient, were treated with systemic injection of high-mobility group box 1 fragment (HMGB1, n = 15) or phosphate buffered saline (control, n = 11)...
2018: PloS One
https://read.qxmd.com/read/28797108/natural-disease-history-of-mouse-models-for-limb-girdle-muscular-dystrophy-types-2d-and-2f
#11
JOURNAL ARTICLE
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle weakness and degeneration. The cause of the disease has been well characterized and a number of animal models are available for pre-clinical studies to test potential therapeutic interventions. To facilitate transition from drug discovery to clinical trials, standardized procedures and natural disease history data were collected for these mouse models...
2017: PloS One
https://read.qxmd.com/read/28412737/whole-exome-sequencing-identifies-sgcd-and-acvrl1-mutations-associated-with-total-anomalous-pulmonary-venous-return-tapvr-in-chinese-population
#12
JOURNAL ARTICLE
Jun Li, Shiwei Yang, Zhening Pu, Juncheng Dai, Tao Jiang, Fangzhi Du, Zhu Jiang, Yue Cheng, Genyin Dai, Jun Wang, Jirong Qi, Liming Cao, Xueying Cheng, Cong Ren, Xinli Li, Yuming Qin
As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR controls were subjected to whole exome sequencing. All detected variations were confirmed by direct Sanger sequencing. Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A receptor type II-like 1 (ACVRL1), c...
April 25, 2017: Oncotarget
https://read.qxmd.com/read/27093116/a-novel-mutation-in-alpha-sarcoglycan-gene-in-an-iranian-family-with-limb-girdle-muscular-dystrophy-2d
#13
JOURNAL ARTICLE
Marzieh Mojbafan, Yalda Nilipour, Seyed Hasan Tonekaboni, Javad Tavakkoly-Bazzaz, Sirous Zeinali
OBJECTIVE AND IMPORTANCE: The sarcoglycanopathies (SGPs) are a subgroup of autosomal recessive limb girdle muscular dystrophies. They are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (SGs) genes. Alpha-SGPs are the most frequent form of SGPs. Muscle biopsy studies in patients with SGPs have indicated that loss of one SG subunit leads to instability of whole SG complex. Autozygosity mapping is a powerful gene mapping approach for rare recessive inherited disorders in consanguineous families...
March 2016: Neurological Research
https://read.qxmd.com/read/26968544/dilated-cardiomyopathy-mutations-in-%C3%AE-sarcoglycan-exert-a-dominant-negative-effect-on-cardiac-myocyte-mechanical-stability
#14
JOURNAL ARTICLE
Matthew D Campbell, Marc Witcher, Anoop Gopal, Daniel E Michele
Delta-sarcoglycan is a component of the sarcoglycan subcomplex within the dystrophin-glycoprotein complex located at the plasma membrane of muscle cells. While recessive mutations in δ-sarcoglycan cause limb girdle muscular dystrophy 2F, dominant mutations in δ-sarcoglycan have been linked to inherited dilated cardiomyopathy (DCM). The purpose of this study was to investigate functional cellular defects present in adult cardiac myocytes expressing mutant δ-sarcoglycans harboring the dominant inherited DCM mutations R71T or R97Q...
May 1, 2016: American Journal of Physiology. Heart and Circulatory Physiology
https://read.qxmd.com/read/26709803/the-sarcoglycan-complex-in-skeletal-muscle
#15
REVIEW
Hakan Tarakci, Joachim Berger
In skeletal muscle, the dystrophin-associated glycoprotein complex forms a link between the actin cytoskeleton and the extracellular matrix that is critical for muscle integrity. Within this complex resides the sarcoglycan subcomplex, which consists of four transmembrane glycoproteins (alpha-, beta-, gamma-, and delta-sarcoglycan). During assembly, beta-sarcoglycan tightly associates with delta-sarcoglycan to form a functional core that then recruits gamma- and alpha-sarcoglycan to form the sarcoglycan complex...
January 1, 2016: Frontiers in Bioscience (Landmark Edition)
https://read.qxmd.com/read/25921929/angiotensin-dependent-autonomic-dysregulation-precedes-dilated-cardiomyopathy-in-a-mouse-model-of-muscular-dystrophy
#16
JOURNAL ARTICLE
Rasna Sabharwal, Robert M Weiss, Kathy Zimmerman, Oliver Domenig, Michael Z Cicha, Mark W Chapleau
What is the central question of this study? Is autonomic dysregulation in a mouse model of muscular dystrophy dependent on left ventricular systolic dysfunction and/or activation of the renin-angiotensin system (RAS) and does it predict development of dilated cardiomyopathy (DCM)? What is the main finding and its importance? The results demonstrate that autonomic dysregulation precedes and predicts left ventricular dysfunction and DCM in sarcoglycan-δ-deficient (Sgcd-/-) mice. The autonomic dysregulation is prevented by treatment of young Sgcd-/- mice with the angiotensin II type 1 receptor blocker losartan...
July 1, 2015: Experimental Physiology
https://read.qxmd.com/read/25474115/the-cc-genotype-of-the-delta-sarcoglycan-gene-polymorphism-rs13170573-is-associated-with-obstructive-sleep-apnea-in-the-chinese-population
#17
JOURNAL ARTICLE
Rensong Ye, Wenlan Yang, Yiming Yuan, Xingqi Deng
Obstructive sleep apnea (OSA) is a highly heterogeneous sleep disorder, and increasing evidence suggests that genetic factors play a role in the etiology of OSA. Airway muscle dysfunction might promote pharyngeal collapsibility, mutations or single nucleotide polymorphisms (SNPs) in the delta-sarcoglycan (SCGD) gene associated with muscle dysfunction. To evaluate if SCGD gene SNPs are associated with OSA, 101 individuals without OSA and 97 OSA patients were recruited randomly. The genotype distributions of SNPs (rs157350, rs7715464, rs32076, rs13170573 and rs1835919) in case and control populations were evaluated...
2014: PloS One
https://read.qxmd.com/read/24742800/sarcolemmal-alpha-and-gamma-sarcoglycan-protein-deficiencies-in-turkish-siblings-with-a-novel-missense-mutation-in-the-alpha-sarcoglycan-gene
#18
JOURNAL ARTICLE
Gulden Diniz, Hulya Tosun Yildirim, Gulcin Akinci, Filiz Hazan, Aysel Ozturk, Kanay Yararbas, Ajlan Tukun
BACKGROUND: The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystrophinopathy, which is the most common form of muscular dystrophy. PATIENTS: Both siblings had very high levels of creatinine phosphokinase and negative molecular tests for deletions and duplications of the dystrophin gene...
June 2014: Pediatric Neurology
https://read.qxmd.com/read/24453475/identification-of-proteins-that-interact-with-alpha-a-crystallin-using-a-human-proteome-microarray
#19
JOURNAL ARTICLE
Qi Fan, Lv-Zhen Huang, Xiang-Jia Zhu, Ke-Ke Zhang, Hong-Fei Ye, Yi Luo, Xing-Huai Sun, Peng Zhou, Yi Lu
PURPOSE: To identify proteins interacting with alpha A-crystallin (CRYAA) and to investigate the potential role that these protein interactions play in the function of CRYAA using a human proteome (HuProt) microarray. METHODS: The active full-length CRYAA protein corresponding to amino acids 1-173 of CRYAA was recombined. A HuProt microarray composed of 17,225 human full-length proteins with N-terminal glutathione S-transferase (GST) tags was used to identify protein-protein interactions...
2014: Molecular Vision
https://read.qxmd.com/read/23786442/genetic-variation-at-the-delta-sarcoglycan-sgcd-locus-elevates-heritable-sympathetic-nerve-activity-in-human-twin-pairs
#20
JOURNAL ARTICLE
C Makena Hightower, Kuixing Zhang, José P Miramontes-González, Fangwen Rao, Zhiyun Wei, Andrew J Schork, Caroline M Nievergelt, Nilima Biswas, Manjula Mahata, Nina Elkelis, Laurent Taupenot, Mats Stridsberg, Michael G Ziegler, Daniel T O'Connor
The Syrian Cardiomyopathic Hamster (BIO-14.6/53.58 strains) model of cardiac failure, resulting from naturally occurring deletion at the SGCD (delta-sarcoglycan) locus, displays widespread disturbances in catecholamine metabolism. Rare Mendelian myopathy disorders of human SGCD occur, although common naturally occurring SGCD genetic variation has not been evaluated for effects on human norepinephrine (NE) secretion. This study investigated the effect of SGCD genetic variation on control of NE secretion in healthy twin pairs...
December 2013: Journal of Neurochemistry
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