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Wolframe syndrome

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https://www.readbyqxmd.com/read/29407091/estradiol-protection-against-toxic-effects-of-catecholamine-on-electrical-properties-in-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#1
Ibrahim El-Battrawy, Zhihan Zhao, Huan Lan, Jan-Dierk Schünemann, Katherine Sattler, Fanis Buljubasic, Bence Patocskai, Xin Li, Gökhan Yücel, Siegfried Lang, Daniel Nowak, Lukas Cyganek, Karen Bieback, Jochen Utikal, Wolfram-Hubertus Zimmermann, Ursula Ravens, Thomas Wieland, Martin Borggrefe, Xiao-Bo Zhou, Ibrahim Akin
BACKGROUND AND PURPOSE: Previous studies revealed that Takotsubo cardiomyopathy (TTC), a transient disorder of ventricular dysfunction affecting predominantly postmenopausal women, is associated with acquired long QT syndrome and arrhythmias, but the exact pathophysiologic mechanism is unknown. Our aim is to investigate the electrophysiological mechanism for QT-prolongation in TTC-patients by using human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). METHODS: hiPSC-CMs, which were generated from human skin fibroblasts of three healthy donors, were treated by estradiol (10μM for one week) and a toxic concentration of isoprenaline (Iso, 1mM for 2h)...
March 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29406269/hippocampus-and-hypothalamus-rna-sequencing-of-wfs1-deficient-mice
#2
Marilin Ivask, Sander Pajusalu, Ene Reimann, Sulev Kõks
Wolfram syndrome is caused by mutations in the WFS1 gene. WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy. WFS1 has been shown to participate in membrane trafficking, protein processing and Ca 2+ homeostasis in the endoplasmic reticulum. Aim of the present study was to find the transcriptomic changes influenced by WFS1 in the hypothalamus and hippocampus using RNA-sequencing. The WFS1-deficient mice were used as a model system to analyze the changes in transcriptional networks...
February 3, 2018: Neuroscience
https://www.readbyqxmd.com/read/29389815/comorbidities-of-chronic-heart-failure-a-systemic-syndrome-requiring-cross-specialty-efforts
#3
Wolfram Doehner
No abstract text is available yet for this article.
March 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29361080/deletion-size-analysis-of-1-680-22q11-2ds-subjects-identifies-a-new-recombination-hotspot-on-chromosome-22q11-2
#4
Tingwei Guo, Alexander Diacou, Nomaru Hiroko, Donna M McDonald-McGinn, Matthew Hestand, Wolfram Demaerel, Liangtian Zhang, Yingjie Zhao, Francisco Ujueta, Jidong Shan, Cristina Montagna, Deyou Zheng, Terrence B Crowley, Leila Kushan-Wells, Carrie E Bearden, Wendy R Kates, Doron Gothelf, Maude Schneider, Stephan Eliez, Jeroen Breckpot, Ann Swillen, Jacob Vorstman, Elaine Zackai, Felipe Gonzalez Benavides, Gabriela M Repetto, Beverly S Emanuel, Anne S Bassett, Joris R Vermeesch, Christian R Marshall, Bernice E Morrow
Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D deletion, some have nested LCR22A-B or LCR22A-C deletions. Our goal is to identify additional recurrent 22q11.2 deletions associated with 22q11.2DS, serving as recombination hotspots for meiotic chromosomal rearrangements...
January 18, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29357349/knockdown-of-wfs1-a-fly-homolog-of-wolfram-syndrome-1-in-the-nervous-system-increases-susceptibility-to-age-and-stress-induced-neuronal-dysfunction-and-degeneration-in-drosophila
#5
Yasufumi Sakakibara, Michiko Sekiya, Naoki Fujisaki, Xiuming Quan, Koichi M Iijima
Wolfram syndrome (WS), caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations. WFS1 encodes an endoplasmic reticulum (ER)-resident transmembrane protein, and mutations in this gene lead to pancreatic β-cell death induced by high levels of ER stress. However, the mechanisms underlying neurodegeneration caused by WFS1 deficiency remain elusive...
January 22, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29309300/reappraisal-of-morphologic-differences-between-renal-medullary-carcinoma-collecting-duct-carcinoma-and-fumarate-hydratase-deficient-renal-cell-carcinoma
#6
Chisato Ohe, Steven C Smith, Deepika Sirohi, Mukul Divatia, Mariza de Peralta-Venturina, Gladell P Paner, Abbas Agaimy, Mitual B Amin, Pedram Argani, Ying-Bei Chen, Liang Cheng, Maurizio Colecchia, Eva Compérat, Isabela Werneck da Cunha, Jonathan I Epstein, Anthony J Gill, Ondřej Hes, Michelle S Hirsch, Wolfram Jochum, Lakshmi P Kunju, Fiona Maclean, Cristina Magi-Galluzzi, Jesse K McKenney, Rohit Mehra, Gabriella Nesi, Adeboye O Osunkoya, Maria M Picken, Priya Rao, Victor E Reuter, Paulo Guilherme de Oliveira Salles, Luciana Schultz, Satish K Tickoo, Scott A Tomlins, Kiril Trpkov, Mahul B Amin
Renal medullary carcinomas (RMCs) and collecting duct carcinomas (CDCs) are rare subsets of lethal high-stage, high-grade distal nephron-related adenocarcinomas with a predilection for the renal medullary region. Recent findings have established an emerging group of fumarate hydratase (FH)-deficient tumors related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC-RCCs) syndrome within this morphologic spectrum. Recently developed, reliable ancillary testing has enabled consistent separation between these tumor types...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29280256/heart-and-brain-interaction-in-patients-with-heart-failure-overview-and-proposal-for-a-taxonomy-a-position-paper-from-the-study-group-on-heart-and-brain-interaction-of-the-heart-failure-association
#7
REVIEW
Wolfram Doehner, Dilek Ural, Karl Georg Haeusler, Jelena Čelutkienė, Reinaldo Bestetti, Yuksel Cavusoglu, Marco A Peña-Duque, Duska Glavas, Massimo Iacoviello, Ulrich Laufs, Ricardo Marmol Alvear, Amam Mbakwem, Massimo F Piepoli, Stuart D Rosen, Georgios Tsivgoulis, Cristiana Vitale, M Birhan Yilmaz, Stefan D Anker, Gerasimos Filippatos, Petar Seferovic, Andrew J S Coats, Frank Ruschitzka
Heart failure (HF) is a complex clinical syndrome with multiple interactions between the failing myocardium and cerebral (dys-)functions. Bi-directional feedback interactions between the heart and the brain are inherent in the pathophysiology of HF: (i) the impaired cardiac function affects cerebral structure and functional capacity, and (ii) neuronal signals impact on the cardiovascular continuum. These interactions contribute to the symptomatic presentation of HF patients and affect many co-morbidities of HF...
December 27, 2017: European Journal of Heart Failure
https://www.readbyqxmd.com/read/29277467/bladder-dysfunction-in-wolfram-syndrome-is-highly-prevalent-and-progresses-to-megacystis
#8
Ruth Wragg, Renuka P Dias, Timothy Barrett, Liam McCarthy
AIM: Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). It includes diabetes mellitus and insipidis, sensorineural deafness, optic atrophy, but not bladder dysfunction. However, this has appeared a common finding in our national referral clinic, and we sought to quantify this problem. METHODS: Data were collected from a multidisciplinary team managing all Wolfram patients in the UK. The following was analyzed: age, date of non-invasive urodynamics (NIU), symptoms, bladder capacity, voided volume, post-void residual and uroflow pattern...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29258540/whole-exome-sequencing-identified-a-missense-mutation-in-wfs1-causing-low-frequency-hearing-loss-a-case-report
#9
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung
BACKGROUND: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION: Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing...
December 19, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29239282/generation-of-human-induced-pluripotent-stem-cells-from-wolfram-syndrome-type-2-patients-bearing-the-c-103-1g-a-cisd2-mutation-for-disease-modeling
#10
Alberto La Spada, Aikaterini Ntai, Stefano Genovese, Maurizio Rondinelli, Pasquale De Blasio, Ida Biunno
Wolfram syndrome (WFS) is a rare autosomal premature aging syndrome that shows signs of diabetes mellitus (DM), optic atrophy (OA) and deafness in addition to central nervous system and endocrine complications. The frequent form of WFS, type 1 (WFS1), harbours causative mutations in the WFS1 gene, while the rare form or type 2 (WFS2), involves CISD2. Mutations in these two genes are recognized by a subset of variable clinical symptoms and a set of overlapping features. Here we report on the generation of stable human induced pluripotent stem cells (hiPSCs) derived from primary fibroblasts of a previously reported Italian family with CISD2 mutation (c...
December 14, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/29237418/a-donor-splice-site-mutation-in-cisd2-generates-multiple-truncated-non-functional-isoforms-in-wolfram-syndrome-type-2-patients
#11
Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello
BACKGROUND: Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggregation. Four mutations in the CISD2 gene have been reported. Among these mutations, the homozygous c.103 + 1G > A substitution was identified in the donor splice site of intron 1 in two Italian sisters and was predicted to cause a exon 1 to be skipped...
December 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29207974/spectrum-of-mutations-in-monogenic-diabetes-genes-identified-from-high-throughput-dna-sequencing-of-6888-individuals
#12
Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J Topol, Thomas Seufferlein, Bernhard O Boehm
BACKGROUND: Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1-2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes...
December 6, 2017: BMC Medicine
https://www.readbyqxmd.com/read/29199513/paraneoplastic-cerebellar-syndromes-associated-with-antibodies-against-purkinje-cells
#13
Philipp Schwenkenbecher, Lisa Chacko, Refik Pul, Kurt-Wolfram Sühs, Florian Wegner, Ulrich Wurster, Martin Stangel, Thomas Skripuletz
The paraneoplastic cerebellar syndrome presents as severe neuroimmunological disease associated with malignancies. Antibodies against antigens expressed by tumor cells cross-react with proteins of cerebellar Purkinje cells leading to neuroinflammation and neuronal loss. These antineuronal antibodies are preferentially investigated by serological analyses while examination of the cerebrospinal fluid is only performed infrequently. We retrospectively investigated twelve patients with antineuronal antibodies against Purkinje cells with a special focus on cerebrospinal fluid...
December 4, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29168286/comparative-proteomic-profiling-reveals-a-role-for-cisd2-in-skeletal-muscle-aging
#14
Yi-Long Huang, Zhao-Qing Shen, Chia-Yu Wu, Yuan-Chi Teng, Chen-Chung Liao, Cheng-Heng Kao, Liang-Kung Chen, Chao-Hsiung Lin, Ting-Fen Tsai
Skeletal muscle has emerged as one of the most important tissues involved in regulating systemic metabolism. The gastrocnemius is a powerful skeletal muscle composed of predominantly glycolytic fast-twitch fibers that are preferentially lost among old age. This decrease in gastrocnemius muscle mass is remarkable during aging; however, the underlying molecular mechanism is not fully understood. Strikingly, there is a ~70% decrease in Cisd2 protein, a key regulator of lifespan in mice and the disease gene for Wolfram syndrome 2 in humans, within the gastrocnemius after middle age among mice...
November 23, 2017: Aging Cell
https://www.readbyqxmd.com/read/29130034/the-effects-of-disease-related-symptoms-on-daily-function-in-wolfram-syndrome
#15
Tasha Doty, Erin R Foster, Bess Marshall, Samantha Ranck, Tamara Hershey
OBJECTIVE: To investigate daily function among individuals with Wolfram Syndrome (WFS) and examine whether any limitations are related to disease-related symptoms. METHODS: WFS (n = 31), Type 1 diabetic (T1DM; n = 25), and healthy control (HC; n = 29) participants completed the Pediatric Quality of Life Questionnaire (PEDSQL) Self and Parent Report. PEDSQL domain scores were compared among these groups and between WFS patients with and without specific disease-related symptoms...
2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29073294/previously-unreported-abnormalities-in-wolfram-syndrome-type-2
#16
Halis Kaan Akturk Md, Seda Yasa MSc
Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/28991271/diabetes-mellitus-and-optic-atrophy-study-of-the-wolfram-syndrome
#17
Bernardette Rivas-Gómez, Alfredo Adolfo Reza-Albarrán
Background: Wolfram syndrome (WS), also known by the acronym DIDMOAD, is a rare and progresive hereditary disease of autosomal recessive inheritance which minimum ascertainment diagnostic criteria are the occurrence together of diabetes mellitus and optic atrophy before 15 years of age. Objective: To describe the clinical, biochemical and molecular profile of WS in a tertiary care hospital in Mexico. Materials and Methods: We reviewed patients records who fulfill the minimum ascertainment diagnostic criteria of WS presenting between January 1987 and May 2015 in a tertiary care hospital in Mexico...
2017: Gaceta Médica de México
https://www.readbyqxmd.com/read/28974383/a-nonsynonymous-mutation-in-the-wfs1-gene-in-a-finnish-family-with-age-related-hearing-impairment
#18
Laura Kytövuori, Samuli Hannula, Elina Mäki-Torkko, Martti Sorri, Kari Majamaa
Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly inherited low-frequency sensorineural HI. These two phenotypes are clinically distinct indicating that WFS1 is a reasonable candidate for genetic studies in patients with other phenotypes of HI. Here we have investigated, whether the variation in WFS1 has a pathogenic role in age-related hearing impairment (ARHI)...
September 28, 2017: Hearing Research
https://www.readbyqxmd.com/read/28965848/nested-inversion-polymorphisms-predispose-chromosome-22q11-2-to-meiotic-rearrangements
#19
Wolfram Demaerel, Matthew S Hestand, Elfi Vergaelen, Ann Swillen, Marcos López-Sánchez, Luis A Pérez-Jurado, Donna M McDonald-McGinn, Elaine Zackai, Beverly S Emanuel, Bernice E Morrow, Jeroen Breckpot, Koenraad Devriendt, Joris R Vermeesch
Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A-D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A-B 22q11.2 deletion carry inversions of LCR22B-D or LCR22C-D...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28953254/clinically-isolated-syndrome-according-to-mcdonald-2010-intrathecal-igg-synthesis-still-predictive-for-conversion-to-multiple-sclerosis
#20
Philipp Schwenkenbecher, Anastasia Sarikidi, Lena Bönig, Ulrich Wurster, Paul Bronzlik, Kurt-Wolfram Sühs, Refik Pul, Martin Stangel, Thomas Skripuletz
While the revised McDonald criteria of 2010 allow for the diagnosis of multiple sclerosis (MS) in an earlier stage, there is still a need to identify the risk factors for conversion to MS in patients with clinically isolated syndrome (CIS). Since the latest McDonald criteria were established, the prognostic role of cerebrospinal fluid (CSF) and visual evoked potentials (VEP) in CIS patients is still poorly defined. We conducted a monocentric investigation including patients with CIS in the time from 2010 to 2015...
September 27, 2017: International Journal of Molecular Sciences
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