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JOURNAL ARTICLE
Eyyup Uctepe, Ahmet Yesilyurt, Fatma Nisa Esen, Sait Tumer, Hanifenur Mancilar, Fatma Mujgan Sonmez
INTRODUCTION: Hereditary forms of intellectual disability (ID), an estimated prevalence ranging between 1% and 3% in the general population, are among the most important problems in health care. Especially, autosomal-recessive ID has a very heterogeneous molecular basis and a lack of specific phenotypic features. METHODS: Here, we report on two unrelated patients with autosomal-recessive ID, microcephaly, and autistic features and review the patients with TRAPPC9-related ID...
December 2023: Molecular Syndromology
#22
JOURNAL ARTICLE
Haluk Tumer, Merih Altiok
PURPOSE: In this study, we aimed to compare the results of Karidakis flap reconstruction with crystallized phenol in pilonidal sinus treatment. METHODS: 216 patients treated for pilonidal sinus disease with the researched methods between June 2016 and July 2019 were included in the study. RESULTS: 142 (65.7%) of the patients were treated with the KFR technique and 74 (34.3%) with the crystallized phenol method. Of the patients included in the study, 157 (72...
2023: Annali Italiani di Chirurgia
#23
JOURNAL ARTICLE
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda McNiven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen
AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally. Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays...
December 1, 2023: Brain
#24
JOURNAL ARTICLE
Tolga Karapinar, Kenan Cagri Tumer, Peter D Constable, Sébastien M C Buczinski
BACKGROUND: Data on the factors affecting blood ionized calcium concentration (ciCa2+ ) and diagnostic performance of serum total calcium concentration (ctCa) measurements to detect abnormal blood iCa2+ status are lacking in sick adult cattle. OBJECTIVE: Assess the association of ciCa2+ with venous blood pH, plasma concentrations of chloride (cCl), sodium (cNa), and potassium (cK), and ctCa, and total protein, albumin, and globulin concentrations in sick adult cattle...
2024: Journal of Veterinary Internal Medicine
#25
JOURNAL ARTICLE
Ali Baran Budak, Levent Altınay, Orhan Eren Günertem, Muhammet Sefa Sağlam, Emre Külahçıoğlu, Naim Boran Tümer, Betül Keskinkılıç Yağız, Serdar Gökay Terzioğlu, Tonguç Saba, Kanat Özışık, Serdar Günaydın
OBJECTIVE: To compare the results of endovascular therapy for chronic limb-threatening ischemia (CLTI) in patients categorized under the gray and yellow zones of the patient risk, limb severity, and anatomic pattern (PLAN) concept over a 2-year follow-up period. METHODS: Patients who underwent endovascular therapy for peripheral artery disease and presented with CLTI from February 2017 to February 2019 were retrospectively reviewed. The patients were grouped into yellow and gray zones based on the PLAN concept...
November 2023: Journal of International Medical Research
#26
JOURNAL ARTICLE
Pritesh R Jain, Myson Burch, Melanie Martinez, Pablo Mir, Jakub P Fichna, Cezary Zekanowski, Renata Rizzo, Zeynep Tümer, Csaba Barta, Evangelia Yannaki, John Stamatoyannopoulos, Petros Drineas, Peristera Paschou
Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Study (GWAS), correlates to disease prevalence in different populations has not been investigated systematically. Here, we studied 14 different complex disorders and explored whether polygenic risk scores (PRS) based on current GWAS correlate to disease prevalence within Europe and around the world...
November 20, 2023: BMC genomic data
#27
JOURNAL ARTICLE
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Daniëlle Gm Bosch, Gijs van Haaften, Leslie Granger, Andrea K Petersen, Luis A Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A Keena, Michael E March, Cuiping Hou, Nora O'Connor, Elizabeth J Bhoj, Margaret H Harr, Gabrielle Lemire, Kym M Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J Maarup, Melissa Byler, Robert Roger Lebel, Tugce B Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M Maas, Mahdi M Motazacker, Julian A Martinez-Agosto, Ahna M Rabani, Elizabeth M McCormick, Marni J Falk, Sarah M Ruggiero, Ingo Helbig, Rikke S Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M Krawitz, Mythily Ganapathi, Bruce D Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Ce Hurst, Michelle L Thompson, Ryan Schmidt, Linda Randolph, Rebecca C Spillmann, Vandana Shashi, Edward J Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert Ba de Vries, Marjon A van Slegtenhorst, Alice S Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate...
January 2, 2024: Journal of Clinical Investigation
#28
REVIEW
Agata Pyrzanowska-Banasiak, Tugba Boyunegmez Tumer, Bożena Bukowska, Anita Krokosz
Background: Strigolactones are signaling molecules produced by plants, the main functions are the intracorporeal control of plant development and plant growth. GR24 strigolactone is one of the synthetic strigolactones and due to its universality and easy availability, it is a standard and model compound for research on the properties and role of strigolactones in human health. Purpose: In this research work, the impact of mainly GR24 strigolactone on the human body and the role of this strigol-type lactone in many processes that take place within the human body are reviewed...
2023: Frontiers in Molecular Biosciences
#29
JOURNAL ARTICLE
Sundaravellu Nallappan, Ringaile Lapinskaite, Josef Hájíček, Dominik Kunák, Peter Čambal, David Nečas, Ivana Císařová, Hazal Nazlıcan Atalay, Tugba Boyunegmez Tumer, Ján Tarábek, Karolina Schwarzová-Pecková, Lukas Rycek
We report a biomimetic synthesis of polyarylated fluorene derivatives. The molecules are formed via intramolecular electrophilic aromatic substitution, resembling a cyclization leading towards the natural selaginpulvilins from selaginellins. The scope of the reaction was investigated, and the products were obtained in 60-95% yields. Some of the compounds decompose to a stable radical. We investigated the nature and the origin of the radical using experimental methods, including EPR or electrochemical measurements, as well as theoretical methods, such as DFT calculations...
November 9, 2023: ChemPlusChem
#30
JOURNAL ARTICLE
Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, F Mujgan Sonmez, Thomas Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, Odile Boute, Meysam Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Behnoosh Bakhshoodeh, Hyung Goo Kim, Reza Maroofian, Ahmet Yesilyurt
Lissencephaly (LIS) is a malformation of cortical development due to deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. Thirty-one LIS-associated genes have been previously described. Recently, biallelic pathogenic variants in CRADD and PIDD1, have associated with LIS impacting the previously established role of the PIDDosome in activating caspase-2. In this report, we describe biallelic truncating variants in CASP2, another subunit of PIDDosome complex. Seven patients from five independent families presenting with a neurodevelopmental phenotype were identified through GeneMatcher-facilitated international collaborations...
October 26, 2023: European Journal of Human Genetics: EJHG
#31
JOURNAL ARTICLE
Dilaver Tengilimoğlu, Tolga Tümer, Russell L Bennett, Mustafa Z Younis
The purpose of this study was to evaluate the financial performances of the publicly held healthcare companies in crisis periods in Türkiye. The 2018 economic crisis and the COVID-19 pandemic crisis were included in the study as the crisis periods. We collected the financial data of the publicly held healthcare companies and calculated three liquidity, three turnover, three leverage and three profitability ratios through ratio analysis to use as financial performance indicators. We then conducted Wilcoxon signed-rank tests and we performed separate analyses for the 2018 economic crisis and the COVID-19 pandemic crisis...
September 20, 2023: Healthcare (Basel, Switzerland)
#32
REVIEW
Katrine M Johannesen, Zeynep Tümer, Sarah Weckhuysen, Tahsin Stefan Barakat, Allan Bayat
Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic workup; however, many remain genetically unsolved. There are various factors that account for negative results in exome/genome sequencing for patients with epilepsy: (1) the underlying cause is not genetic; (2) there is a complex polygenic explanation; (3) the illness is monogenic but the causative gene remains to be linked to a human disorder; (4) family segregation with reduced penetrance; (5) somatic mosaicism or the complexity of, for example, a structural rearrangement; or (6) limited knowledge or diagnostic tools that hinder the proper classification of a variant, resulting in its designation as a variant of unknown significance...
September 26, 2023: Epilepsia
#33
JOURNAL ARTICLE
Levent Mavioglu, Hakki Zafer Iscan, Goktan Askin, Bekir Bogachan Akkaya, Naim Noran Tumer, Mehmet Karahan, Ertekin Utku Unal
AIM: Blunt traumatic thoracic aortic injury (BTAI) is a highly fatal surgical emergency and is treated with endovascular procedures. We aimed to analyze and report the early and midterm outcomes of surgeon-modified fenestrated stent-grafts (SMFSG) compared with other conventional endovascular methods in patients with BTAI repaired with zone 2 endovascular surgery. MATERIALS AND METHODS: Before and after the study was performed, from January 2015 to January 2020 for a period in which conventional endovascular treatments were used and from January 2020 to January 2023 for the second period in which the SMFSG technique was used...
September 20, 2023: Journal of Endovascular Therapy
#34
JOURNAL ARTICLE
A van Kootwijk, B P Jonker, E B Wolvius, M Cruz Saldivar, M A Leeflang, J Zhou, N Tümer, M J Mirzaali, A A Zadpoor
OBJECTIVE: Mandibular reconstruction using patient-specific cage implants is a promising alternative to the vascularized free flap reconstruction for nonirradiated patients with adequate soft tissues, or for patients whose clinical condition is not conducive to microsurgical reconstruction. This study aimed to assess the biomechanical performance of 3D printed patient-specific cage implants designed with a semi-automated workflow in a combined cadaveric and retrospective case series study...
August 29, 2023: Journal of the Mechanical Behavior of Biomedical Materials
#35
Luluah Bubshait, Khalid Alburayk, Halla Alabdulhadi, Khalid Emara
Retinoblastoma is the most common ocular malignancy in children, considered fatal without treatment. Retinocytoma is a rare benign clinical entity of retinoblastoma that shows signs of tumor regression. The clinical presentation of retinocytoma usually includes a gray translucent mass, intralesional calcification, and retinal pigment epithelial alteration, along with the presence of chorioretinal atrophy. We report two cases of retinocytoma in patients presenting with strabismus in the Eastern Province of Saudi Arabia...
August 2023: Curēus
#36
JOURNAL ARTICLE
Paula Rivera-Sánchez, Line Søndergaard, Methi Wathikthinnakon, Helena B D Magnusson, Henriette R Frederiksen, Freja Aabæk Hammer, Reema Taleb, Conan Christian Cassidy, Mads Tranholm Bruun, Zeynep Tümer, Bjørn Holst, Charlotte Brasch-Andersen, Rikke Møller, Kristine Freude, Abinaya Chandrasekaran
Developmental and epileptic encephalopathies (DEEs) are rare severe neurodevelopmental disorders with a cumulative incidence of 1:6.000 live births. Many epileptic conditions arise from single nucleotide variants in CACNA1A (calcium voltage-gated channel subunit alpha1 A), encoding the CaV2.1 calcium channel subunit. Human induced pluripotent stem cells (hiPSCs) are an optimal choice for modeling DEEs, as they can be differentiated in vitro into diverse neuronal subpopulations. Here, we report the generation of hiPSC lines with two pathogenic CACNA1A variants c...
August 25, 2023: Stem Cell Research
#37
JOURNAL ARTICLE
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1+/- mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1+/- mice. We describe 34 individuals, from which 30 were unrelated, with 26 different null and four missense variants...
November 2023: European Journal of Human Genetics: EJHG
#38
JOURNAL ARTICLE
I F Uludag, O Tumer, U Sener
BACKGROUND: Heart rate (HR) changes associated with seizures are promising biomarkers in epilepsy. AIMS: The aim of our study is to reveal possible HR changes in the peri-ictal period. METHODS: Long-term video-EEG monitorization records of generalized and focal epilepsy patients were reviewed. HRs were calculated in the pre-ictal (2 min before the first seizure activity in EEG), ictal (the time from the first seizure activity on the EEG to the end of the seizure), and in the interictal period (at least 2 h before or 12 h after the seizure)...
August 2023: Nigerian Journal of Clinical Practice
#39
JOURNAL ARTICLE
Merih Altiok, Haluk Tümer, Ahmet Gökhan Sarıtaş
INTRODUCTION: Colorectal injuries following traumas are significant causes of morbidity and mortality. This study aimed to evaluate the predictive effect of trauma scoring systems on mortality and morbidity in patients with post-traumatic colon injury. METHODS: The records of 145 patients with colon trauma treated at Seyhan State Hospital between January 1, 2010, and January 1, 2020, were retrospectively analyzed. Injury Seriousness Score (ISS), Revised Trauma Score (RTS), Trauma Injury Severity Score (TRISS), and Colon Injury Score (CIS) scores were calculated for all patients...
August 9, 2023: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
#40
JOURNAL ARTICLE
Emrullah Kızıltunç, Sabire Gökalp, Gürsel Biberoğlu, Yakup Yalçın, Burcu Cihan, Rıdvan M Öktem, Aslı İnci, Leyla Tümer, Mehmet R Yalçın, Adnan Abacı
BACKGROUND: Lipid metabolism is considerably complex and there can be many critical steps in atherogenesis. The association between lysosomal acid lipase (LAL) activity and coronary artery disease (CAD) has not been elucidated in detail. We aimed to evaluate the association between LAL activity with the presence and severity of CAD in patients who are seen in daily clinical practice. METHODS: Patients who underwent coronary angiography were divided into groups according to the angiography results...
August 1, 2023: Herz
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