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https://www.readbyqxmd.com/read/29058153/effects-of-growth-hormone-treatment-on-adult-height-in-severely-short-children-with-x-linked-hypophosphatemic-rickets
#1
Nadine Meyerhoff, Dieter Haffner, Hagen Staude, Elke Wühl, Michaela Marx, Rolf Beetz, Uwe Querfeld, Martin Holder, Heiko Billing, Wolfgang Rabl, Carmen Schröder, Olaf Hiort, Jürgen H Brämswig, Annette Richter-Unruh, Dirk Schnabel, Miroslav Živičnjak
BACKGROUND: We recently showed that a 3-year growth hormone (GH) treatment improves linear growth in severely short children with X-linked hypophosphatemic rickets (XLH). It is unknown if GH therapy increases adult height in XLH patients. METHODS: We carried out a follow-up analysis of a randomized controlled open-label GH study in short prepubertal children with XLH on phosphate and active vitamin D treatment. The changes in SD scores (SDS) of height, sitting height, leg and arm length, and sitting height index (i...
October 20, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29058101/dock8-deficiency-presenting-as-an-ipex-like-disorder
#2
Fayhan J Alroqi, Louis-Marie Charbonnier, Sevgi Keles, Fatima Ghandour, Pierre Mouawad, Rami Sabouneh, Reem Mohammed, Abduarahman Almutairi, Janet Chou, Michel J Massaad, Raif S Geha, Zeina Baz, Talal A Chatila
PURPOSE: The dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-combined immunodeficiency whose clinical spectra include recurrent infections, autoimmunity, malignancies, elevated serum IgE, eczema, and food allergies. Here, we report on patients with loss of function DOCK8 mutations with profound immune dysregulation suggestive of an immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)-like disorder. METHODS: Immunophenotyping of lymphocyte subpopulations and analysis of DOCK8 protein expression were evaluated by flow cytometry...
October 23, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29057663/gene-therapy-for-inherited-retinal-and-optic-nerve-degenerations
#3
Nicholas A Moore, Nuria Morral, Thomas A Ciulla, Peter Bracha
The eye is a target for investigational gene therapy due to the monogenic nature of many inherited retinal and optic nerve degenerations (IRD), its accessibility, tight blood-ocular barrier, the ability to non-invasively monitor for functional and anatomic outcomes, as well as its relative immune privileged state.Vectors currently used in IRD clinical trials include adeno-associated virus (AAV), small single-stranded DNA viruses, and lentivirus, RNA viruses of the retrovirus family. Both can transduce non-dividing cells, but AAV are non-integrating, while lentivirus integrate into the host cell genome, and have a larger transgene capacity...
October 23, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29056270/primary-adrenal-insufficiency-due-to-x-linked-adrenoleukodystrophy-diagnosed-in-adulthood
#4
Guillermo Serra Soler, María Soledad Gogorza Pérez, Ana Jiménez Portilla, Vicente Pereg Macazaga
No abstract text is available yet for this article.
October 2017: Endocrinología, diabetes y nutrición
https://www.readbyqxmd.com/read/29055531/the-utility-of-the-fipi-score-in-predicting-long-term-clinical-outcomes-in-patients-with-fabry-disease-receiving-enzyme-replacement-therapy-with-agalsidase-alfa
#5
Dylan J Mac Lochlainn, Douglas G J McKechnie, Atul B Mehta, Derralynn A Hughes
Fabry disease is a rare X-linked lysosomal storage disorder in which there is deficiency of alpha galactosidase A. Enzyme replacement therapy (ERT) is commercially available and has been demonstrated to improve cardiac and renal outcomes. Predictive scores, such as the Fabry International Prognostic Index (FIPI), have been developed to stratify disease severity; however, these have not been validated to predict outcomes in patients receiving ERT. We show that the FIPI score at baseline can predict outcomes in a group of patients on long-term ERT...
October 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29054605/increased-prevalence-of-filaggrin-deficiency-in-51-patients-with-recessive-x-linked-ichthyosis-presenting-for-dermatological-examination
#6
Kira Süßmuth, Robert Gruber, Elke Rodriguez, Heiko Traupe, Susanne Amler, Alberto Sánchez-Guijo, Frederic Valentin, Tatjana Tarinski, Natalia Straub, Dieter Metze, Stefan W Schneider, Ingrid Hausser, Hansjörg Baurecht, Stephan Weidinger, Vinzenz Oji
X-linked ichthyosis (XLI) is a keratinization disorder caused by deficient activity of steroidsulfatase. In contrast, ichthyosis vulgaris is due to semidominant mutations of the filaggrin gene (FLG). In view of phenotypic variations of these ichthyoses we speculated that XLI may be influenced by additional FLG mutations in a significant number of patients. We characterized a group of 51 patients with XLI and systematically analyzed them for additional FLG mutations (R501X, 2282del4, R2447X, S3247X). The study was complemented by morphological analyses...
October 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29053855/rare-gabra3-variants-are-associated-with-epileptic-seizures-encephalopathy-and-dysmorphic-features
#7
Cristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, Agnieszka Charzewska, Julian Schubert, Tally Lerman-Sagie, Hester Y Kroes, Renske Oegema, Monica Traverso, Nicola Specchio, Maria Lassota, Jamel Chelly, Odeya Bennett-Back, Nirit Carmi, Tal Koffler-Brill, Michele Iacomino, Marina Trivisano, Giuseppe Capovilla, Pasquale Striano, Magdalena Nawara, Sylwia Rzonca, Ute Fischer, Melanie Bienek, Corinna Jensen, Hao Hu, Holger Thiele, Janine Altmüller, Roland Krause, Patrick May, Felicitas Becker, Rudi Balling, Saskia Biskup, Stefan A Haas, Peter Nürnberg, Koen L I van Gassen, Holger Lerche, Federico Zara, Snezana Maljevic, Esther Leshinsky-Silver
Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism...
October 7, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29051801/current-and-emerging-factor-viii-replacement-products-for-hemophilia-a
#8
REVIEW
Lorraine A Cafuir, Christine L Kempton
Hemophilia A is a congenital X-linked bleeding disorder caused by coagulation factor VIII (FVIII) deficiency. Routine infusion of factor replacement products is the current standard of care; however, the development of alloantibodies against FVIII remains a challenge. The treatment of hemophilia has undergone major advances over the past century to improve safety, effectiveness, manufacturing, and convenience of factor products. Major recent advances in the treatment of hemophilia A include the emergence of extended half-life products, factor VIII orthologs, and gene therapy products...
October 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/29051026/mutational-analysis-of-the-androgen-receptor-nr3c4-gene-in-patients-with-46-xy-dsd
#9
L Ramos, B Chávez, L Mares, E Valdés, F Vilchis
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the NR3C4 gene, which encodes the androgen receptor (AR). In this study, we performed mutational analyses to identify AR molecular defects, in individuals with 46,XY disorders of sex development (46,XY DSD) and a presumptive diagnosis of AIS. Eighteen different gene mutations, including seven previously unreported new variants, were detected in 26 unrelated cases. These included two deletion mutations (P49fs*185 and E308f*320) in exon 1 and five substitution mutations (p...
October 16, 2017: Gene
https://www.readbyqxmd.com/read/29050935/the-l1-adhesion-molecule-normalizes-neuritogenesis-in-rett-syndrome-derived-neural-precursor-cells
#10
Myungsik Yoo, Cassiano Carromeu, Ohyoon Kwon, Alysson Muotri, Melitta Schachner
Therapeutic intervention is an important need in ameliorating the severe consequences of Rett Syndrome (RTT), a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein-2 (MeCP2). Following previously observed morphological defects in induced pluripotent stem cell (iPSC)-derived neurons obtained from female RTT patients, we hypothesized transfection with the L1 cell adhesion molecule (L1) could contribute to normalizing a pathological male cell system bearing a nonsense mutation of MeCP2...
October 16, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29049987/isoflavones-induce-bex2-dependent-autophagy-to-prevent-atr-induced-neurotoxicity-in-sh-sy5y-cells
#11
Peng Li, Kun Ma, Hao-Yu Wu, Yan-Ping Wu, Bai-Xiang Li
BACKGROUND/AIMS: Atrazine (ATR) is a broad-spectrum herbicide in wide use around the world. However, ATR is neurotoxic and can cause cell death in dopaminergic neurons, leading to neurodegenerative disorders. Autophagy is the basic cellular catabolic process involving the degradation of proteins and damaged organelles. Studies have shown that certain plant compounds can induce autophagy and prevent neuronal cell death. This prompted us to investigate plant compounds that might reduce the neurotoxic effects of ATR...
October 19, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29048653/ribosomal-protein-s3-regulates-xiap-expression-independently-of-the-nf-%C3%AE%C2%BAb-pathway-in-breast-cancer-cells
#12
Hisako Ono, Yosuke Iizumi, Wakana Goi, Yoshihiro Sowa, Tetsuya Taguchi, Toshiyuki Sakai
The X-linked inhibitor of apoptosis (XIAP) confers the resistance of various types of cancer to standard chemotherapeutic agents such as anthracycline and taxane. In breast cancer, XIAP is known to be overexpressed. However, the mechanisms underlying the overexpression of XIAP remain currently unclear. In order to elucidate the mechanisms responsible for the overexpression of the XIAP protein in breast cancer, we attempted to clarify the mechanisms by which the natural compound curcumin downregulates XIAP in breast cancer cells...
September 27, 2017: Oncology Reports
https://www.readbyqxmd.com/read/29047041/a-profound-computational-study-to-prioritize-the-disease-causing-mutations-in-prps1-gene
#13
Ashish Kumar Agrahari, P Sneha, C George Priya Doss, R Siva, Hatem Zayed
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate synthetase 1 (PRPS1) is an essential enzyme in the primary stage of de novo and salvage nucleotide synthesis. The mutations in the PRPS1 gene leads to X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), PRS super activity, Arts syndrome, X-linked deafness-1, breast cancer, and colorectal cancer...
October 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29046627/mecp2-deficiency-in-neuroglia-new-progress-in-the-pathogenesis-of-rett-syndrome
#14
REVIEW
Xu-Rui Jin, Xing-Shu Chen, Lan Xiao
Rett syndrome (RTT) is an X-linked neurodevelopmental disease predominantly caused by mutations of the methyl-CpG-binding protein 2 (MeCP2) gene. Generally, RTT has been attributed to neuron-centric dysfunction. However, increasing evidence has shown that glial abnormalities are also involved in the pathogenesis of RTT. Mice that are MeCP2-null specifically in glial cells showed similar behavioral and/or neuronal abnormalities as those found in MeCP2-null mice, a mouse model of RTT. MeCP2 deficiency in astrocytes impacts the expression of glial intermediate filament proteins such as fibrillary acidic protein (GFAP) and S100 and induces neuron toxicity by disturbing glutamate metabolism or enhancing microtubule instability...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29045953/-detection-of-large-deletions-in-x-linked-alport-syndrome-using-competitive-multiplex-fluorescence-polymerase-chain-reaction
#15
F Wang, Y Q Zhang, J Ding, L X Yu
OBJECTIVE: To evaluate the ability of multiplex competitive fluorescence polymerase chain reaction in detection of large deletion and duplication genotypes of X-linked Alport syndrome. METHODS: Clinical diagnosis of X-linked Alport syndrome was based on either abnormal staining of type IV collagen α5 chain in the epidermal basement membrane alone or with abnormal staining of type IV collagen α5 chain in the glomerular basement membrane and Bowman's capsule/ultrastructural changes in the glomerular basement membrane typical of Alport syndrome...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045633/ventricular-arrhythmia-and-sudden-cardiac-death-in-fabry-disease-a-systematic-review-of-risk-factors-in-clinical-practice
#16
Shanat Baig, Nicky C Edward, Dipak Kotecha, Boyang Liu, Sabrina Nordin, Rebecca Kozor, James C Moon, Tarekegn Geberhiwot, Richard P Steeds
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. This systematic review aims to identify the risk factors for ventricular arrhythmia (VA) and sudden cardiac deaths (SCD) in FD. A systematic search was performed following PRISMA guidelines of EMBASE, Medline, PubMed, Web of Science, and Cochrane from inception to August 2016, focusing on identification of risk factors for the development of VA or SCD...
October 17, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29044913/assessment-of-cytologic-differentiation-in-high-grade-pancreatic-neuroendocrine-neoplasms-a-multi-institutional-study
#17
Carlie S Sigel, Vitor Werneck Krauss Silva, Michelle D Reid, David Chhieng, Olca Basturk, Keith M Sigel, Tanisha D Daniel, David S Klimstra, Laura H Tang
BACKGROUND: Well-differentiated (WD) and poorly differentiated (PD) pancreatic neuroendocrine neoplasms are biologically distinct entities with different therapies and prognoses. WD neoplasms with elevated proliferation (Ki-67 > 20%) have been shown to have an overlapping histology with PD neuroendocrine carcinomas. This study compared expert cytomorphologic assessments of differentiation in pancreatic neuroendocrine neoplasms in a multi-institutional study. METHODS: Fine-needle aspiration specimens from pancreatic neuroendocrine neoplasms (grade 2 [G2] and grade 3 [G3] according to the 2017 World Health Organization classification; n = 72) were diagnosed independently by 3 cytopathologists as WD or PD (poorly differentiated large cell type [PD-L] or poorly differentiated small cell type [PD-S]) purely on the basis of cytomorphology...
October 17, 2017: Cancer
https://www.readbyqxmd.com/read/29044429/dynamic-expression-of-long-noncoding-rnas-reveals-their-potential-roles-in-spermatogenesis-and-fertility
#18
Lauren Wichman, Saigopal Somasundaram, Christine Breindel, Dana M Valerio, John R McCarrey, Craig A Hodges, Ahmad M Khalil
Mammalian reproduction requires that males and females produce functional haploid germ cells through complex cellular differentiation processes known as spermatogenesis and oogenesis, respectively. While numerous studies have functionally characterized protein-coding genes and small noncoding RNAs (microRNAs and piRNAs) that are essential for gametogenesis, the roles of regulatory long noncoding RNAs (lncRNAs) are yet to be fully characterized. Previously, we and others have demonstrated that intergenic regions of the mammalian genome encode thousands of long noncoding RNAs, and many studies have now demonstrated their critical roles in key biological processes...
August 1, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/29044343/case-report-is-low-%C3%AE-gal-enzyme-activity-sufficient-to-establish-the-diagnosis-of-fabry-disease
#19
Gilson Biagini, Ana Clara Simões Flórido Almeida, Tammy Vernalha Rocha Almeida, Cassiano Augusto Braga Silva, Bruna Fernanda de Castro, Tais Cristina Reche, Ana Cláudia Dabinski, Fellype Carvalho Barreto
Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report describes a hemodialysis patient with a rare and controversial GLA gene mutation, the D313Y. The medecial investigation confirmed that D313Y is an alpha-galactosidase A sequence variant that causes pseudo deficient enzyme activity in plasma but not Fabry disease...
July 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29042737/nance-horan-syndrome-a-rare-case-report
#20
Shambhu Sharma, Pankaj Datta, Janak Raj Sabharwal, Sonia Datta
Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors...
July 2017: Contemporary Clinical Dentistry
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