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JOURNAL ARTICLE
Zilong Bai, Nicholas Bartelo, Maryam Aslam, Elisabeth A Murphy, Caryn R Hale, Nathalie E Blachere, Salina Parveen, Edoardo Spolaore, Edward DiCarlo, Ellen M Gravallese, Melanie H Smith, Mayu O Frank, Caroline S Jiang, Haotan Zhang, Christina Pyrgaki, Myles J Lewis, Shafaq Sikandar, Costantino Pitzalis, Joseph B Lesnak, Khadijah Mazhar, Theodore J Price, Anne-Marie Malfait, Rachel E Miller, Fan Zhang, Susan Goodman, Robert B Darnell, Fei Wang, Dana E Orange
It has been presumed that rheumatoid arthritis (RA) joint pain is related to inflammation in the synovium; however, recent studies reveal that pain scores in patients do not correlate with synovial inflammation. We developed a machine-learning approach (graph-based gene expression module identification or GbGMI) to identify an 815-gene expression module associated with pain in synovial biopsy samples from patients with established RA who had limited synovial inflammation at arthroplasty. We then validated this finding in an independent cohort of synovial biopsy samples from patients who had early untreated RA with little inflammation...
April 10, 2024: Science Translational Medicine
#22
JOURNAL ARTICLE
Yacine El Yaagoubi, Eric Lioret, Clément Thomas, Jean-Edouard Loret, Adrien Simonneau, Anne-Victoire Michaud-Robert, Laurent Philippe, Maja Ogielska, Caroline Prunier-Aesch
Objective Fluorine-18 fluorodeoxyglucose ( 18 F-FDG) positron emission tomography/computed tomography (PET/CT) has gained attention as an emerging tool in case of suspicion of infection on spine, whether native or instrumented. However, the diagnostic performance of 18 F-FDG PET/CT in clinically occult low-grade surgical site infection (SSI) after spinal fusion, an important risk factor for pseudarthrosis, remains unknown. Methods We retrospectively identified all the presumed aseptic patients with pseudarthrosis confirmed by revision surgery who underwent preoperative 18 F-FDG PET/CT scans performed between April 2019 and November 2022...
March 2024: World Journal of Nuclear Medicine
#23
JOURNAL ARTICLE
Estelle D Watson, Lily F Roberts, Jane E Harding, Caroline A Crowther, Luling Lin
BACKGROUND: Placental management strategies such as umbilical cord milking and delayed cord clamping may provide a range of benefits for the newborn. The aim of this review was to assess the effectiveness of umbilical cord milking and delayed cord clamping for the prevention of neonatal hypoglycaemia. METHODS: Three databases and five clinical trial registries were systematically reviewed to identify randomised controlled trials comparing umbilical cord milking or delayed cord clamping with control in term and preterm infants...
April 8, 2024: BMC Pregnancy and Childbirth
#24
JOURNAL ARTICLE
Holly E Erskine, Joemer C Maravilla, Yohannes Dibaba Wado, Amirah Ellyza Wahdi, Vu Manh Loi, Shoshanna L Fine, Mengmeng Li, Astha Ramaiya, Frederick Murunga Wekesah, Sally Atieno Odunga, Anne Njeri, Althaf Setyawan, Yufan Putri Astrini, Rizka Rachmawati, Dao Thi Khanh Hoa, Krystina Wallis, Cartiah McGrath, Jamileh Shadid, Meaghan E Enright, Sarah J Blondell, David Lawrence, Prudence W Fisher, Harvey A Whiteford, Nguyen Duc Vinh, Siswanto Agus Wilopo, Caroline W Kabiru, Robert Wm Blum, James G Scott
BACKGROUND: Mental disorders are the leading global cause of health burden among adolescents. However, prevalence data for mental disorders among adolescents in low-income and middle-income countries are scarce with often limited generalisability. This study aimed to generate nationally representative prevalence estimates for mental disorders in adolescents in Kenya, Indonesia, and Viet Nam. METHODS: As part of the National Adolescent Mental Health Surveys (NAMHS), a multinational cross-sectional study, nationally representative household surveys were conducted in Kenya, Indonesia, and Viet Nam between March and December, 2021...
April 5, 2024: Lancet
#25
JOURNAL ARTICLE
David J Pinato, Antonio D'Alessio, Claudia Angela Maria Fulgenzi, Alexandra Emilia Schlaak, Ciro Celsa, Saskia Killmer, Jesus Miguens Blanco, Caroline Ward, Charalampos-Vlasios Stikas, Mark R Openshaw, Nicole Acuti, Georgios Nteliopoulos, Cristina Balcells, Hector C Keun, Robert D Goldin, Paul J Ross, Alessio Cortellini, Robert Thomas, Anna Mary Young, Nathan Danckert, Paul Tait, Julian R Marchesi, Bertram Bengsch, Rohini Sharma
BACKGROUND: TACE may prime adaptive immunity and enhance immunotherapy efficacy. PETAL evaluated safety, preliminary activity of TACE plus pembrolizumab and explored mechanisms of efficacy. METHODS: Patients with liver-confined HCC were planned to receive up to 2 rounds of TACE followed by pembrolizumab 200 mg every 21 days commencing 30-days post-TACE until disease progression or unacceptable toxicity for up to 1 year. Primary endpoint was safety, 21-days dose-limiting toxicities (DLT) from pembrolizumab initiation...
April 5, 2024: Clinical Cancer Research
#26
JOURNAL ARTICLE
John McDonnell, Kimberley Cousins, M Elizabeth M Younger, Adam Lane, Hassan Abolhassani, Roshini S Abraham, Salem Al-Tamemi, Juan Carlos Aldave-Becerra, Eman Hesham Al-Faris, Alberto Alfaro-Murillo, Suzan A AlKhater, Nouf Alsaati, Alexa Michelle Altman Doss, Melissa Anderson, Ernestina Angarola, Barbara Ariue, Danielle E Arnold, Amal H Assa'ad, Caner Aytekin, Meaghan Bank, Jenna R E Bergerson, Jack Bleesing, John Boesing, Carolina Bouso, Nicholas Brodszki, Diana Cabanillas, Carol Cady, Meghan A Callahan, Roberta Caorsi, Javier Carbone, Maria Carrabba, Riccardo Castagnoli, Jason R Catanzaro, Samantha Chan, Sharat Chandra, Hugo Chapdelaine, Zahra Chavoshzadeh, Hey Jin Chong, Lori Connors, Filippo Consonni, Oscar Correa-Jimenez, Charlotte Cunningham-Rundles, Katherine D'Astous-Gauthier, Ottavia Maria Delmonte, Yesim Yilmaz Demirdag, Deepti R Deshpande, Natalie M Diaz-Cabrera, Victoria R Dimitriades, Rasha El-Owaidy, Gehad ElGhazali, Suleiman Al-Hammadi, Giovanna Fabio, Astrid Schellnast Faure, Jin Feng, James M Fernandez, Lauren Fill, Guacira R Franco, Robert W Frenck, Ramsay L Fuleihan, Giuliana Giardino, Jessica Galant-Swafford, Eleonora Gambineri, Elizabeth K Garabedian, Ashley V Geerlinks, Ekaterini Goudouris, Octavio Grecco, Qiang Pan-Hammarström, Hedieh Haji Khodaverdi Khani, Lennart Hammarström, Nicholas L Hartog, Jennifer Heimall, Gabriela Hernandez-Molina, Caroline C Horner, Robert W Hostoffer, Nataliya Hristova, Kuang-Chih Hsiao, Gabriela Ivankovich-Escoto, Faris Jaber, Maaz Jalil, Mahnaz Jamee, Tiffany Jean, Stephanie Jeong, Devi Jhaveri, Michael B Jordan, Avni Y Joshi, Amanpreet Kalkat, Henry J Kanarek, Erinn S Kellner, Amer Khojah, Ruby Khoury, Cristina M Kokron, Ashish Kumar, Kelsey Lecerf, Heather K Lehman, Jennifer W Leiding, Harry Lesmana, Xin Rong Lim, Joao Pedro Lopes, Ana Laura López, Lucia Tarquini, Ingrid S Lundgren, Julieann Magnusson, Ana Karolina B B Marinho, Gian Luigi Marseglia, Giulia M Martone, Annamaria G Mechtler, Leonardo Mendonca, Joshua D Milner, Peter J Mustillo, Asal Gharib Naderi, Samuele Naviglio, Jeremy Nell, Hana B Niebur, Luigi Notarangelo, Matias Oleastro, María Claudia Ortega-López, Neil R Patel, Gordana Petrovic, Claudio Pignata, Oscar Porras, Benjamin T Prince, Jennifer M Puck, Nashmia Qamar, Marco Rabusin, Nikita Raje, Lorena Regairaz, Kimberly A Risma, Elizabeth H Ristagno, John Routes, Persio Roxo-Junior, Negin Salemi, Christopher Scalchunes, Susan J Schuval, Suranjith L Seneviratne, Ashwin Shankar, Roya Sherkat, Junghee Jenny Shin, Abeer Siddiqi, Sara Signa, Ali Sobh, Fabiana Mascarenhas Souza Lima, Kristen K Stenehjem, Jonathan S Tam, Monica Tang, Myrthes Toledo Barros, James Verbsky, Eleni Vergadi, Dayne H Voelker, Stefano Volpi, Luke A Wall, Christine Wang, Kelli W Williams, Eveline Y Wu, Shan Shan Wu, Jessie J Zhou, Alexandria Cook, Kathleen E Sullivan, Rebecca Marsh
BACKGROUND: The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI. OBJECTIVE: To estimate COVID-19 vaccination safety and examine effect on outcomes in patients with IEI. METHODS: We built a secure registry database in conjunction with the US Immunodeficiency Network to examine vaccination frequency and indicators of safety and effectiveness in IEI patients...
April 5, 2024: Journal of Clinical Immunology
#27
JOURNAL ARTICLE
Sarah L Tansley, Fionnuala McMorrow, Caroline V Cotton, Huzaifa Adamali, Shaney L Barratt, Zoe E Betteridge, Janire Perurena-Prieto, Michael A Gibbons, Raman Kular, Aravinthan Loganathan, Janine A Lamb, Hui Lu, Robert P New, Diane Pratt, Pilar Rivera-Ortega, Ross Sayers, Matthew Steward, Lachlan Stranks, Edward Vital, Lisa G Spencer, Neil J McHugh, Robert G Cooper
BACKGROUND: Autoantibodies are a hallmark feature of Connective Tissue Diseases (CTD). Their presence in patients with idiopathic interstitial lung disease (ILD) may suggest covert CTD. We aimed to determine the prevalence of CTD autoantibodies in patients diagnosed with idiopathic ILD. METHODS: 499 patient sera were analysed: 251 idiopathic pulmonary fibrosis (IPF), 206 idiopathic non-specific interstitial pneumonia (iNSIP) and 42 cryptogenic organising pneumonia (COP)...
April 2, 2024: Clinical Immunology: the Official Journal of the Clinical Immunology Society
#28
JOURNAL ARTICLE
Lulu Jiang, Rebecca Roberts, Melissa Wong, Lushuang Zhang, Chelsea Joy Webber, Jenna Libera, Zihan Wang, Alper Kilci, Matthew Jenkins, Alejandro Rondón Ortiz, Luke Dorrian, Jingjing Sun, Guangxin Sun, Sherif Rashad, Caroline Kornbrek, Sarah Anne Daley, Peter C Dedon, Brian Nguyen, Weiming Xia, Takashi Saito, Takaomi C Saido, Benjamin Wolozin
INTRODUCTION: The study of the pathophysiology study of Alzheimer's disease (AD) has been hampered by lack animal models that recapitulate the major AD pathologies, including extracellular -amyloid (A) deposition, intracellular aggregation of microtubule associated protein tau (MAPT), inflammation and neurodegeneration. METHODS: The humanized APPNL-G-F knock-in mouse line was crossed to the PS19 MAPTP301S , over-expression mouse line to create the dual APPNL-G-F/PS19 MAPTP301S line...
2024: Frontiers in Neuroscience
#29
JOURNAL ARTICLE
Robert A D'Ippolito, Grace M Scheidemantle, Brian P Smith, Katie Powell, Scott Eury, Abigail Neish, Jennifer Mehalko, Lauren Beaumont, Nicole Fer, Vanessa Wall, William Burgan, Anna E Maciag, Dominic Esposito, Caroline J DeHart
Prior analysis of intact and modified protein forms (proteoforms) of KRAS4B isolated from cell lines and tumor samples by top-down mass spectrometry revealed the presence of novel posttranslational modifications (PTMs) and potential evidence of context-specific KRAS4B modifications. However, low endogenous proteoform signal resulted in ineffective characterization, making it difficult to visualize less abundant PTMs or perform follow-up PTM validation using standard proteomic workflows. The NCI RAS Initiative has developed a model system, whereby KRAS4B bearing an N-terminal FLAG tag can be stably expressed within a panel of cancer cell lines...
2024: Methods in Molecular Biology
#30
JOURNAL ARTICLE
Parth U Thakker, Davis M Temple, Caroline Minnick, Dominick Ponzi, Gopal Badlani, Ashok Hemal, William Doares, Christopher Webb, Emily McCracken, Giuseppe Orlando, Colleen Jay, Alan Farney, Robert J Stratta
BACKGROUND: Some patients with end stage renal disease are or will become narcotic-dependent. Chronic narcotic use is associated with increased graft loss and mortality following kidney transplantation. We aimed to compare the efficacy of continuous flow local anesthetic wound infusion pumps (CFLAP) with patient controlled analgesia pumps (PCA) in reducing inpatient narcotic consumption in patients undergoing kidney transplantation. MATERIALS AND METHODS: In this single-center, retrospective analysis of patients undergoing kidney transplantation, we collected demographic and operative data, peri-operative outcomes, complications, and inpatient oral morphine milligram equivalent (OME) consumption...
April 2024: Clinical Transplantation
#31
JOURNAL ARTICLE
Tanmay Kanitkar, Nicholas Bakewell, Oshani Dissanayake, Maggie Symonds, Stephanie Rimmer, Amit Adlakha, Marc C I Lipman, Sanjay Bhagani, Banwari Agarwal, Caroline A Sabin, Robert F Miller
BACKGROUND: Despite widespread use of combination antiretroviral therapy, people with HIV (PWH) continue to have an increased risk of admission to and mortality in the intensive care unit (ICU). Mortality risk after hospital discharge is not well described. Using retrospective data on adult PWH (≥18 years) admitted to ICU from 2000-2019 in an HIV-referral centre, we describe trends in 1-year mortality after ICU admission. METHODS: One-year mortality was calculated from index ICU admission to date of death; with follow-up right-censored at day 365 for people remaining alive at 1 year, or day 7 after ICU discharge if lost-to-follow-up after hospital discharge...
April 2, 2024: Journal of Intensive Care Medicine
#32
JOURNAL ARTICLE
Yvette Kriellaars, Jorine Ariane Vermaire, Maaike Beugeling, Robert Poorter, Janneke Drijvers, Caroline Margina Speksnijder
BACKGROUND: During the last decade, twelve studies have been published investigating physical exercise interventions (PEIs) in patients with head and neck cancer (HNC) during radiotherapy (RT), chemoradiation (CRT) or bioradiation (BRT). These studies showed that these PEIs are safe and feasible. However, only two of these studies were randomised clinical trials (RCTs) with a satisfying sample size. Thereby, there is no cost-effectiveness study related to a PEI during RT, CRT or BRT ((C/B)RT) for patients with HNC...
April 1, 2024: BMC Cancer
#33
JOURNAL ARTICLE
Astrid Wachter, Maya E Woodbury, Sylvia Lombardo, Aicha Abdourahman, Carolin Wuest, Emily McGlame, Timothy Pastika, Joseph Tamm, Nandini Romanul, Kiran Yanamandra, Rachel Bennett, Gen Lin, Taekyung Kwon, Fan Liao, Corinna Klein, Yelena Grinberg, Methasit Jaisa-Aad, Huan Li, Matthew P Frosch, Markus P Kummer, Sudeshna Das, Tammy Dellovade, Eric H Karran, Xavier Langlois, Janina S Ried, Alberto Serrano-Pozo, Robert V Talanian, Knut Biber, Bradley T Hyman
Human microglia are critically involved in Alzheimer's disease (AD) progression, as shown by genetic and molecular studies. However, their role in tau pathology progression in human brain has not been well described. Here, we characterized 32 human donors along progression of AD pathology, both in time-from early to late pathology-and in space-from entorhinal cortex (EC), inferior temporal gyrus (ITG), prefrontal cortex (PFC) to visual cortex (V2 and V1)-with biochemistry, immunohistochemistry, and single nuclei-RNA-sequencing, profiling a total of 337,512 brain myeloid cells, including microglia...
April 1, 2024: Acta Neuropathologica
#34
JOURNAL ARTICLE
Madison A Oxford, Caroline M McLaughlin, Christopher J McLaughlin, T Shane Johnson, John M Roberts
BACKGROUND: Following the integration of the electronic health record (EHR) into the healthcare system, concern has grown regarding EHR use on physician well-being. For surgical residents, time spent on the EHR increases the burden of a demanding, hourly restricted schedule and detracts from time spent honing surgical skills. To better characterize these burdens, we sought to describe EHR utilization patterns for plastic surgery residents. METHODS: Integrated plastic surgery resident EHR utilization from March 2019 to March 2020 was extracted via Cerner Analytics at a tertiary academic medical center...
April 1, 2024: Annals of Plastic Surgery
#35
JOURNAL ARTICLE
Meiling Zhu, Caroline Zeiss, Mark W Hamrick, Robert S Weinstein, Ben-Hua Sun, Marco Brotto, Xinran Liu, Edwin Siu, Anita Huttner, Steven Tommasini, Christine Simpson, Karl Insogna
PURPOSE: Mitofusin 2 (Mfn2) is one of two mitofusins involved in regulating mitochondrial size, shape and function, including mitophagy, an important cellular mechanism to limit oxidative stress. Reduced expression of Mfn2 has been associated with impaired osteoblast differentiation and function and a reduction in the number of viable osteocytes in bone. We hypothesized that the genetic absence of Mfn2 in these cells would increase their susceptibility to aging-associated metabolic stress, leading to a progressive impairment in skeletal homeostasis over time...
March 27, 2024: Bone
#36
REVIEW
Nils Kriedemann, Wiebke Triebert, Jana Teske, Mira Mertens, Annika Franke, Kevin Ullmann, Felix Manstein, Lika Drakhlis, Alexandra Haase, Caroline Halloin, Ulrich Martin, Robert Zweigerdt
A promising cell-therapy approach for heart failure aims at differentiating human pluripotent stem cells (hPSCs) into functional cardiomyocytes (CMs) in vitro to replace the disease-induced loss of patients' heart muscle cells in vivo. But many challenges remain for the routine clinical application of hPSC-derived CMs (hPSC-CMs), including good manufacturing practice (GMP)-compliant production strategies. This protocol describes the efficient generation of hPSC-CM aggregates in suspension culture, emphasizing process simplicity, robustness and GMP compliance...
March 28, 2024: Nature Protocols
#37
JOURNAL ARTICLE
Caroline Spertini, Alexandre P Bénéchet, Flora Birch, Axel Bellotti, Mónica Román-Trufero, Caroline Arber, Holger W Auner, Robert A Mitchell, Olivier Spertini, Tatiana Smirnova
The malignant microenvironment plays a major role in the development of resistance to therapies and the occurrence of relapses in acute myeloid leukemia (AML). We previously showed that interactions of AML blasts with bone marrow macrophages (MΦ) shift their polarization towards a protumoral (M2-like) phenotype, promoting drug resistance; we demonstrated that inhibiting the colony-stimulating factor-1 receptor (CSF1R) repolarizes MΦ towards an antitumoral (M1-like) phenotype and that other factors may be involved...
March 28, 2024: Cell Death Discovery
#38
JOURNAL ARTICLE
Margarida Pires Simoes, Emma B Hodcroft, Peter Simmonds, Jan Albert, Enagon K Alidjinou, Katia Ambert-Balay, Cristina Andrés, Andrés Antón, Christelle Auvray, Jean-Luc Bailly, Fausto Baldanti, Capser Bastings, Stuart Beard, Carla Berengua Pereira, Natasa Berginc, Mandy Bloemen, Soile Blomqvist, Froukje Bosma, Sindy Böttcher, Laura Bubba, Stafan Buderus, Maria Cabrerizo, Christina Calvo, Christina Celma, Ferruccio Ceriotti, Gemma Clark, Inës Costa, Marianne Coste-Burel, Karen Couderé, Jeroen Cremer, Margarita Del Cuerpo Casas, Theo Daehne, Jessica de Beer, Maria de Ceano-Vivas, Cillian De Gascun, Alexis de Rougemont, Johnathan Dean, Jennifer L Dembinski, Sabine Diedrich, Javier Diez-Domingo, Lena Dillner, Dagny H Dorenberg, Alexandra Ducancelle, Susanne Dudman, Robert Dyrdak, Anna-Maria Eis-Huebinger, Iker Falces-Romero, Agnes Farkas, Susan Feeney, Maria D Fernandez-Garcia, Jacky Flipse, Kristina T Franck, Cristina Galli, Isabelle Garrigue, Felix Geeraedts, Irina Georgieva, Federica Giardina, Raquel Guiomar, Elenor Hauzenberger, Esther Heikens, Cécille Henquell, Didier Hober, Amrio Hönemann, Hannah Howson-Wells, Željka Hruškar, Niina Ikonen, Berthemarie Imbert, Arjan R Jansz, Marion Jeannoël, Helena Jiřincová, Laurence Josset, Kathrin Keeren, Naomie Kramer-Lindhout, Sidsel Krokstad, Mouna Lazrek, Hélène Le Guillou-Guillemette, Caroline Lefeuvre, Andreas Lind, Maja M Lunar, Melanie Maier, Stéphanie Marque-Juillet, C Patrick McClure, James McKenna, Adam Meijer, Ana Menasalvas Ruiz, Beatriz Mengual-Chuliá, Sofie Midgley, Audrey Mirand, Richard Molenkamp, Milagrosa Montes, Antonio Moreno-Docón, Ursula Morley, Jean-Luc Murk, Ana Navascués-Ortega, Roel Nijhuis, Lubomira Nikolaeva-Glomb, Svein A Nordbø, Sanela Numanovic, Massimo Oggioni, Eider Oñate Vergara, Jordi Pacaud, Marie L Pacreau, Marcus Panning, Elena Pariani, Lili Pekova, Laura Pellegrinelli, Miroslav Petrovec, Corinna Pietsch, Léa Pilorge, Luis Piñeiro, Antonio Piralla, Mario Poljak, Birgit Prochazka, Nuria Rabella, Janette C Rahamat-Langendoen, Petra Rainetova, Marijke Reynders, Annelies Riezebos-Brilman, Lieuwe Roorda, Carita Savolainen-Kopra, Isabelle Schuffenecker, Leo C Smeets, Ayse Stoyanova, Karl Stefic, Caroline Swanink, Irena Tabain, Jeroen Tjhie, Luc Thouault, Camille Tumiotto, Sara Uceda Renteria, Tina Uršič, Sophie Vallet, Marc Van Ranst, Peter Van Wunnik, Jaco J Verweij, Jorgina Vila, Bas Wintermans, Elke Wollants, Katja C Wolthers, F Xavier López-Labrado, Thea Kolsen Fischer, Heli Harvala, Kimberley S M Benschop
Enterovirus D68 (EV-D68) infections are associated with severe respiratory disease and acute flaccid myelitis (AFM). The European Non-Polio Enterovirus Network (ENPEN) aimed to investigate the epidemiological and genetic characteristics of EV-D68 and its clinical impact during the fall-winter season of 2021/22. From 19 European countries, 58 institutes reported 10,481 (6.8%) EV-positive samples of which 1,004 (9.6%) were identified as EV-D68 (852 respiratory samples). Clinical data was reported for 969 cases...
March 28, 2024: Journal of Infectious Diseases
#39
JOURNAL ARTICLE
Mircea R Mihu, Laura V Swant, Robert S Schoaps, Caroline Johnson, Aly El Banayosy
(1) Background : Extracorporeal membrane oxygenation (ECMO) represents a potentially lifesaving support for respiratory and/or circulatory failure but its availability is limited to larger medical centers. A well-organized regional ECMO center with remote cannulation and retrieval ability can offer this intervention to patients treated at hospitals without ECMO. Information regarding the number and structure of ECMO retrieval programs in the United States is limited and there are no data regarding the size and structure of existing programs and which physician specialists perform cannulations and provide management...
March 17, 2024: Journal of Clinical Medicine
#40
JOURNAL ARTICLE
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H F Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37...
March 19, 2024: Biomolecules
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