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https://www.readbyqxmd.com/read/29458111/ppar%C3%AE-modulation-rescues-mitochondrial-fatty-acid-oxidation-defects-in-the-mdx-model-of-muscular-dystrophy
#1
Eric L Bell, Robert W Shine, Peter Dwyer, Lyndsay Olson, Jennifer Truong, Ross Fredenburg, Matthew Goddeeris, Dominique Stickens, Effie Tozzo
Duchenne muscular dystrophy (DMD) is a recessive, fatal X-linked disease that is characterized by progressive skeletal muscle wasting due to the absence of dystrophin, which is an a essential protein that bridges the inner cytoskeleton and extra-cellular matrix. This study set out to characterize the mitochondria in primary muscle satellite cell derived myoblasts from mdx mice and wild type control mice. Compared to wild type derived cells the mdx derived cells have reduced mitochondrial bioenergetics and have fewer mitochondria...
February 16, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29456765/peripheral-blood-epi-signature-of-claes-jensen-syndrome-enables-sensitive-and-specific-identification-of-patients-and-healthy-carriers-with-pathogenic-mutations-in-kdm5c
#2
Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I Rodenhiser, Charles Schwartz, Bekim Sadikovic
Background: Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with hemizygous mutations in KDM5C present with intellectual disability and facial dysmorphism, while most heterozygous female carriers are asymptomatic. We hypothesized that loss of Kdm5c function may influence other components of the epigenomic machinery including DNA methylation in affected patients...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29456757/the-natural-history-of-spinal-deformity-in-patients-with-coffin-lowry-syndrome
#3
M Welborn, S Farrell, P Knott, E Mayekar, S Mardjetko
Purpose: Little is known about the natural history of spinal deformities in Coffin-Lowry syndrome (CLS). Our goal was to evaluate the spinal deformity progression and clinical impact. Methods: In this institutional review board-approved study, we performed a multinational retrospective review of six male CLS patients, aged 13 to 22 years at final follow-up, for a mean of 7.25 years (3 to 13). Results: All showed delayed skeletal maturity. Three had calcifications of their lower cervical ligamentum flavum, all experienced neural axis abnormalities, including lower extremity weakness, numbness and tingling and in one, quadriparesis...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29456744/cardamonin-enhances-the-anti-proliferative-effect-of-cisplatin-on-ovarian-cancer
#4
Peiguang Niu, Daohua Shi, Shusheng Zhang, Yanting Zhu, Jintuo Zhou
The mammalian target of rapamycin (mTOR) is well-known as a promising therapeutic target in various cancer cells. mTOR activation decreases the sensitivity of ovarian cancer to cisplatin. Cardamonin inhibits the proliferation of various cancer cells by mTOR suppression. The present study examined whether cardamonin combined with cisplatin is efficacious for the anti-proliferation of ovarian cancer cells. The anti-proliferative effect was determined by MTT and cell cycle assays. Activation of the mTOR signal pathway and the expression of anti-apoptotic proteins were evaluated by western blot analysis...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29456483/two-novel-pathogenic-mid1-variants-and-genotype-phenotype-correlation-reanalysis-in-x-linked-opitz-g-bbb-syndrome
#5
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29455885/vincristine-resistance-in-relapsed-neuroblastoma-can-be-efficiently-overcome-by-smac-mimetic-lcl161-treatment
#6
Kristin Frommann, Birgit Appl, Patrick Hundsdoerfer, Konrad Reinshagen, Georg Eschenburg
PURPOSE: In spite of good initial therapy response neuroblastomas often spread to distant organs or relapse after periods of remission. Dysregulation of apoptosis, a hallmark of cancer, is often effected by elevated levels of antiapoptotic signals leading to resistance against chemotherapeutic drugs. Inhibitors of apoptosis proteins (IAPs) are crucial cellular apoptosis regulators. Targeting IAPs with Smac mimetics has been demonstrated as a promising strategy for treatment of neuroblastoma and other tumors...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29455639/role-of-bruton-s-tyrosine-kinase-in-b-cells-and-malignancies
#7
REVIEW
Simar Pal Singh, Floris Dammeijer, Rudi W Hendriks
Bruton's tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary immunodeficiency X-linked agammaglobulinemia (XLA) and is essential both for B cell development and function of mature B cells. Shortly after its discovery, BTK was placed in the signal transduction pathway downstream of the B cell antigen receptor (BCR). More recently, small-molecule inhibitors of this kinase have shown excellent anti-tumor activity, first in animal models and subsequently in clinical studies...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29454648/foxp3-renders-activated-human-regulatory-t-cells-resistant-to-restimulation-induced-cell-death-by-suppressing-sap-expression
#8
Gil Katz, Kelsey Voss, Toria F Yan, Yong Chan Kim, Robert L Kortum, David W Scott, Andrew L Snow
Restimulation-induced cell death (RICD) is an apoptotic program that regulates effector T cell expansion, triggered by repeated stimulation through the T cell receptor (TCR) in the presence of interleukin-2 (IL-2). Although CD4+ regulatory T cells (Tregs) consume IL-2 and experience frequent TCR stimulation, they are highly resistant to RICD. Resistance in Tregs is dependent on the forkhead box P3 (FOXP3) transcription factor, although the mechanism remains unclear. T cells from patients with X-linked lymphoproliferative disease (XLP-1), that lack the adaptor molecule SLAM-associated protein (SAP), are also resistant to RICD...
February 12, 2018: Cellular Immunology
https://www.readbyqxmd.com/read/29454075/the-g-protein-coupled-p2y-6-receptor-promotes-colorectal-cancer-tumorigenesis-by-inhibiting-apoptosis
#9
Morgane Placet, Guillaume Arguin, Caroline M Molle, Jean-Philippe Babeu, Christine Jones, Julie C Carrier, Bernand Robaye, Sameh Geha, Francois Boudreau, Fernand-Pierre Gendron
Colorectal tumors are immersed in an array of tumor-promoting factors including extracellular nucleotides such as uridine 5'‑diphosphate (UDP). UDP is the endogenous agonist of the G protein-coupled P2Y 6 receptor (P2Y 6 R), which may contribute to the formation of a tumor-promoting microenvironment by coordinating resistance to apoptosis. Colorectal cancer (CRC) was chemically induced in P2ry6 knockout (P2ry6 -/- ) mice using azoxymethane and dextran sulfate sodium challenges. Mice were euthanatized and their tumor load determined...
February 14, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29449410/conserved-microrna-targeting-reveals-preexisting-gene-dosage-sensitivities-that-shaped-amniote-sex-chromosome-evolution
#10
Sahin Naqvi, Daniel W Bellott, Kathy S Lin, David C Page
Mammalian X and Y Chromosomes evolved from an ordinary autosomal pair. Genetic decay of the Y led to X Chromosome inactivation (XCI) in females, but some Y-linked genes were retained during the course of sex chromosome evolution, and many X-linked genes did not become subject to XCI. We reconstructed gene-by-gene dosage sensitivities on the ancestral autosomes through phylogenetic analysis of microRNA (miRNA) target sites and compared these preexisting characteristics to the current status of Y-linked and X-linked genes in mammals...
February 15, 2018: Genome Research
https://www.readbyqxmd.com/read/29448016/intestinal-immunity-suppresses-carrying-capacity-of-rats-for-the-model-tapeworm-hymenolepis-diminuta
#11
Tamio Ohno, Takuya Kai, Yuki Miyasaka, Haruhiko Maruyama, Akira Ishih, Hideto Kino
Hymenolepis diminuta is a parasitic tapeworm of the rat small intestine and is recognized as a useful model for the analysis of cestode-host interactions. In this study, we analyzed factors affecting the biomass of the tapeworm through use of rat strains carrying genetic mutations, namely X-linked severe combined immunodeficiency (xscid; T, B and NK cells deficiency), nude (rnu; T cell deficiency), and mast cell deficient rats. The worm biomass of F344-xscid rats after infection with 5 cysticercoids was much larger than control F344 rats from 3 to 8 weeks...
February 12, 2018: Parasitology International
https://www.readbyqxmd.com/read/29447163/paternal-lineage-early-onset-hereditary-ovarian-cancers-a-familial-ovarian-cancer-registry-study
#12
Kevin H Eng, J Brian Szender, John Lewis Etter, Jasmine Kaur, Samantha Poblete, Ruea-Yea Huang, Qianqian Zhu, Katherine A Grzesik, Sebastiano Battaglia, Rikki Cannioto, John J Krolewski, Emese Zsiros, Peter J Frederick, Shashikant B Lele, Kirsten B Moysich, Kunle O Odunsi
Given prior evidence that an affected woman conveys a higher risk of ovarian cancer to her sister than to her mother, we hypothesized that there exists an X-linked variant evidenced by transmission to a woman from her paternal grandmother via her father. We ascertained 3,499 grandmother/granddaughter pairs from the Familial Ovarian Cancer Registry at the Roswell Park Cancer Institute observing 892 informative pairs with 157 affected granddaughters. We performed germline X-chromosome exome sequencing on 186 women with ovarian cancer from the registry...
February 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29445033/rett-syndrome-a-neurological-disorder-with-metabolic-components
#13
REVIEW
Stephanie M Kyle, Neeti Vashi, Monica J Justice
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 ( MECP2 ), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief. Thought to be an entirely neurological disorder, RTT research has focused on the role of MECP2 in the central nervous system...
February 2018: Open Biology
https://www.readbyqxmd.com/read/29444904/mutation-in-an-alternative-transcript-of-cdkl5-in-a-boy-with-early-onset-seizures
#14
Dale L Bodian, John M Schreiber, Thierry Vilboux, Alina Khromykh, Natalie S Hauser
Infantile-onset epilepsies are a set of severe, heterogeneous disorders for which clinical genetic testing yields causative mutations in ~20-50% of affected individuals. We report the case of a boy presenting with intractable seizures at 2 weeks of age, for whom gene panel testing was unrevealing. Research-based whole genome sequencing of the proband and four unaffected family members identified a de novo mutation, NM_001323289.1:c.2828_2829delGA in CDKL5, a gene associated with X-linked early infantile epileptic encephalopathy 2...
February 14, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29444371/whole-exome-sequencing-for-diagnosis-of-hereditary-ichthyosis
#15
J C Sitek, M A Kulseth, K B Rypdal, T Skodje, Y Sheng, L Retterstøl
BACKGROUND: Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care. OBJECTIVE: We wanted to estimate the diagnostic yield of applying whole-exome sequencing (WES) in the routine genetic work-up of inherited ichthyosis. METHODS: During a 3-year-period, all ichthyosis patients, except X-linked and mild vulgar ichthyosis, consecutively admitted to a university hospital clinic were offered WES with subsequent analysis of ichthyosis-related genes as a first-line genetic investigation...
February 14, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29444177/kidney-differentiated-cells-derived-from-lowe-syndrome-patient-s-ipscs-show-ciliogenesis-defects-and-six2-retention-at-the-golgi-complex
#16
Wen-Chieh Hsieh, Swetha Ramadesikan, Donna Fekete, Ruben Claudio Aguilar
Lowe syndrome is an X-linked condition characterized by congenital cataracts, neurological abnormalities and kidney malfunction. This lethal disease is caused by mutations in the OCRL1 gene, which encodes for the phosphatidylinositol 5-phosphatase Ocrl1. While in the past decade we witnessed substantial progress in the identification and characterization of LS patient cellular phenotypes, many of these studies have been performed in knocked-down cell lines or patient's cells from accessible cell types such as skin fibroblasts, and not from the organs affected...
2018: PloS One
https://www.readbyqxmd.com/read/29443366/paradoxical-anatomic-response-to-topical-carbonic-anhydrase-inhibitor-in-x-linked-retinoschisis
#17
Brandon Menke, Alex Walters, John F Payne
An 11-year-old boy presented for central vision blurring in each eye. Visual acuity was 20/80 and examination revealed spoke-wheel foveal schisis and peripheral elevated diaphanous inner retina in each eye. Spectral-domain optical coherence tomography showed inner-retinal, flat-topped cysts in each eye. Electrophysiologic testing was refused, but a clinical diagnosis of X-linked retinoschisis was made. Three months after topical dorzolamide (Trusopt; Santen Pharmaceutical, Osaka, Japan) was started, the macular cysts worsened significantly...
February 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29442328/zic3-in-heterotaxy
#18
Helen M Bellchambers, Stephanie M Ware
Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of model organisms and gene expression during early development suggests ZIC3-related heterotaxy occurs due to defects at the earliest stage of left-right axis formation. Although there are data to support abnormalities of the node and cilia as underlying causes, it is unclear at the molecular level why loss of ZIC3 function causes such these defects. ZIC3 has putative roles in a number of developmental signalling pathways that have distinct roles in establishing the left-right axis...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29441621/novel-interstitial-deletion-in-xp22-3-in-a-typical-x-linked-recessive-family-with-kallmann-syndrome
#19
Y Niu, C Zhou, H Xu, D Wang, Y Chen, Z Li, T Wang, G Pokhrel, D W Wang, J Liu
Kallmann syndrome (KS) is a clinically and genetically heterogeneous condition characterised by hypogonadotropic hypogonadism with anosmia or hyposmia. More than nineteen genes causing KS have been reported to date. KAL1, first identified to causing the X-linked form of KS, accounts for 10%-20% of KS patients. In this study, we designed a panel including 17 known genes causing KS for genetic diagnosis and research and report a typical and rare family of which three generations had been affected by KS. A novel CNV in Xp22...
February 14, 2018: Andrologia
https://www.readbyqxmd.com/read/29440854/whorled-scarring-alopecia-the-only-adult-marker-of-incontinentia-pigmenti
#20
Urvi Popli, Paul Devakar Yesudian
Incontinentia pigmenti (IP) is a rare X-linked dominant disease that affects the ectodermal tissues. It is associated with a whorled pattern of scarring alopecia, which is possibly underreported. This scarring alopecia could be used as a marker to identify adult women affected with IP as older patients may have minimal cutaneous manifestations. We report an unusual case of an 8-year-old girl who had recurrent inflammatory stage IP and later developed whorled scarring alopecia in the vertex of the scalp.
January 2018: International Journal of Trichology
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