Association Between Germline BRCA1/2 Gene Variants and Clinicopathological Features of Ovarian Cancer by Luo Y, Pan R, Rao H, Chen X, Yang H

“…Yu Luo,1,2 Ru Pan,1,2 Hui Rao,2,3 Xing Chen,4 Haikun Yang1,2 1Department of Gynaecology, Meizhou People’s Hospital, Meizhou Academy of Medical Sciences, Meizhou, People’s Republic of China; 2Meizhou Municipal Engineering and Technology Research Center for Molecular Diagnostics of Major Genetic Disorders, Meizhou People’s Hospital, Meizhou, People’s Republic of China; 3Department of Laboratory Medicine, Meizhou People’s Hospital, Meizhou Academy of Medical Sciences, Meizhou, People’s Republic of China; 4Data Center, Meizhou People’s Hospital, Meizhou Academy of Medical Sciences, Meizhou, People’s Republic of ChinaCorrespondence: Haikun Yang, Department of Gynaecology, Meizhou People’s Hospital, Meizhou Academy of Medical Sciences, Add: No. 63 Huangtang Road, Meijiang District, Meizhou, People’s Republic of China, Email 13923023911@139.comObjective: To investigate the relationship between BRCA1/2 gene mutation and clinicopathological features in ovarian cancer patients, so as to develop precise individualized treatment plan for patients.Methods: Patients diagnosed with ovarian cancer between January 2018 and July 2023 who underwent BRCA1/2 genetic testing were retrospectively analyzed. …”
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The Human Cytomegalovirus Nonstructural Glycoprotein UL148 Reorganizes the Endoplasmic Reticulum by Hongbo Zhang, Clarissa Read, Christopher C. Nguyen, Mohammed N. A. Siddiquey, Chaowei Shang, Cameron M. Hall, Jens von Einem, Jeremy P. Kamil

“…IMPORTANCE Perturbations to endoplasmic reticulum (ER) morphology occur during infection with various intracellular pathogens and in certain genetic disorders. We identify that a human cytomegalovirus (HCMV) gene product, UL148, profoundly reorganizes the ER during infection and is sufficient to do so when expressed on its own. …”
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Clinical prognostic relevance of elastin and laminin in children with undifferentiated connective tissue disease by N.S. Cherkasov, T.N. Doronina, A.V. Prakhov, Yu.A. Lutsenko

“…The diagnosis was verified by ruling out genetic disorders via analyzing family tree, genetic consultation, etc. …”
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The use of validated and nonvalidated surrogate endpoints in two European Medicines Agency expedited approval pathways: A cross-sectional study of products authorised 2011-2018. by Catherine Schuster Bruce, Petra Brhlikova, Joseph Heath, Patricia McGettigan

“…Overall, 26 products were for oncology indications, 10 for infections, 8 for genetic disorders, and 7 for other systems disorders. Five products (10%), all AAs, were authorised based on pivotal trials reporting clinical outcomes, and 46 (90%) were authorised based on surrogate endpoints. …”
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Function of transient receptor potential canonical 3 - Nicotinamide adenine dinucleotide phosphate oxidase 2 interaction in atrophy of cardiac and skeletal muscle cells by Suhaini Sudi

“…Muscle atrophy develops after a long period of inactivity caused by malnutrition, ageing, genetic disorders, and cancer. High protein degradation rate is a hallmark in the muscle atrophy-related diseases that showed increase in reactive oxygen species (ROS) production and severe muscle wasting. …”
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Encephalomalacia/gliosis, deep venous thrombosis, and cancer in Arg393His antithrombin Hanoi and the potential impact of the β-amyloid precursor protein (APP) on thrombosis and can... by Khue Vu Nguyen

“…This article focuses on the following issues: (1) pathophysiology and clinical conditions of Arg393His in AT-Hanoi; (2) “two way association” between cancer and thrombosis in which venous thromboembolism (VTE) can be both a presenting sign and a complication of cancer; (3) efficacy of anticoagulants used for the prevention of cancer-related thrombosis; (4) conditions of acquired risk factors such as cancer or genetic disorders via epigenetic modifications in gene-gene (epistasis) and/or gene-environment interactions such as in Lesch-Nyhan disease (LND), in which the β-amyloid precursor protein (APP) that may interact to predispose a patient to thrombosis and cancer. …”
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Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome by Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke

“…Abstract Background/Objectives Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. …”
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Modern treatment of epileptic encephalopathies in young children: improvement of precision medicine by L.G. Kirilova, O.O. Miroshnikov, O.E. Abaturov, N.V. Medvedovska, Yu.G. Antipkin, N.Y. Bondarenko

“…Epileptic encephalopathies are a heterogeneous group of genetic disorders in young children that are difficult to treat and often have a malignant course. …”
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Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5 by Carlos Pargas, Jeanne M. Franzone, Kenneth J. Rogers, Frank Artinian, Adolfredo Santana, Suken A. Shah, Cristina M. McGreal, Richard W. Kruse, Michael B. Bober

“…Objectives: Osteogenesis imperfecta (OI) is a heterogeneous group of genetic disorders of connective tissue that cause skeletal fragility and extra-skeletal manifestations. …”
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders by Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler

“…To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. …”
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Molecular heterogeneity and analysis of the long-term survival of patients with gastrointestinal stromal tumors by N. N. Mazurenko, V. V. Yugay, I. V. Tsyganova, M. P. Nikulin, P. P. Arkhiri, O. A. Anurova, N. A. Kozlov, I. S. Stilidi

“…GISTs are clinically diverse and have different genetic alterations that may have predictive and prognostic significance.Aim – the study of clinical, morphological and genetic features of GISTs to assess the overall survival (OS) of patients with various profiles of genetic disorders for elucidation the factors contributing to prognosis.Materials and methods. …”
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Central Role of β-1,4-GalT-V in Cancer Signaling, Inflammation, and Other Disease-Centric Pathways by Subroto Chatterjee, Rebecca Yuan, Spriha Thapa, Resham Talwar

“…We also discuss Online Mendelian Inheritance in Man (OMIM), which is a comprehensive database of human genes and genetic disorders used to provide information on the genetic basis of inherited diseases and traits and information about the molecular pathways and biological processes that underlie human physiology. …”
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Application of Multilocus Sequence Typing for the Characterization of <i>Leptospira</i> Strains in Malaysia by Fairuz Amran, Nurul Atiqah Noor Halim, Ayu Haslin Muhammad, Mohd Khairul Nizam Mohd Khalid, Nur Mukmina Dasiman, Nadia Aqilla Shamsusah, Abdul Khalif Adha Abd Talib, Mohamed Asyraf Noh, Mohammad Ridhuan Mohd Ali, Rohaidah Hashim

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EVALUATION OF THE LEUKOCYTE INDEX IN SICKLE CELL ANEMIA WITH THE USE OF HYDROXYUREA by JO Rios, TF Ribeiro, LR Pereira, CRB Domingos, DP Malerba

“…Objectives: The term sickle cell disease (SCD) is used to describe a group of genetic disorders in which there is a predominance of HbS, a variant hemoglobin originated from a single nucleotide polymorphism (SNP) responsible for the exchange of a glutamic acid by valine in position 6 of ß-globin chain. …”
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A Scoping Review on the Ethical Issues in the Use of CRISPR-Cas9 in the Creation of Human Disease Models by Russell Franco D’Souza, Mary Mathew, Krishna Mohan Surapaneni

“…The disease for which models were created was not mentioned in the majority of articles, while a few investigated the application of CRISPR-Cas9 in genetic disorders, cardiovascular diseases, neurodegenerative diseases, and eye disorders. …”
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Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 gen... by K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

“…Conclusions Deep human HFE genealogies show HFE to be associated with other genetic disorders like Wilson´s disease, LQTS, JLNS, and autosomal recessive hearing loss. …”
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HLH Syndrome in a Community Hospital: The Challenge of an Early Diagnosis by Wagner Y, Adam D, Pomeranz Engelberg G, Pomeranz A, Messinger YH

“…It can be secondary to infections, malignancies, autoimmune diseases, or the manifestation of genetic disorders, including primary immune deficiency. …”
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A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist’s Perspective by Hande Taylan Şekeroğlu, Gülen Eda Utine, Mehmet Alikaşifoğlu

“…This is crucial in genetic disorders, in which modern treatment suggestions involve replacement of the missing molecular element. …”
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Assessing Students&rsquo; Knowledge and Attitudes Regarding the Risks and Prevention of Consanguineous Marriage: A Cross-Sectional Online Survey by Jairoun AA, Al-Hemyari SS, Shahwan M, Karuniawati H, Zyoud SH, Abu-Gharbieh E, Zyoud SH, Al-Ani M, Habeb M, Jairoun M

“…Ammar Abdulrahman Jairoun,1,2 Sabaa Saleh Al-Hemyari,2,3 Moyad Shahwan,4,5 Hidayah Karuniawati,6,7 Samer H Zyoud,4,8– 10 Eman Abu-Gharbieh,11 Sa’ed H Zyoud,12,13 Mena Al-Ani,14 Mustafa Habeb,15 Maimona Jairoun5 1Health and Safety Department, Dubai Municipality, Dubai, United Arab Emirates; 2Discipline of Clinical Pharmacy, School of Pharmaceutical Sciences, Universiti Sains Malaysia (USM), Pulau Pinang, 11800, Malaysia; 3Pharmacy Department, Emirates Health Services, Dubai, United Arab Emirates; 4Centre of Medical and Bio-Allied Health Sciences Research, Ajman University, Ajman, 346, United Arab Emirates; 5Department of Clinical Sciences, College of Pharmacy and Health Sciences, Ajman University, Ajman, 346, United Arab Emirates; 6Discipline of Social and Administrative Pharmacy, School of Pharmaceutical Sciences, Universiti Sains Malaysia (USM), Pulau Pinang, 11800, Malaysia; 7Department of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Universitas Muhammadiyah Surakarta, Surakarta, 57102, Indonesia; 8Department of Mathematics and Sciences, Ajman University, Ajman, United Arab Emirates; 9Nonlinear Dynamics Research Center (NDRC), Ajman University, Ajman, United Arab Emirates; 10School of Physics, Universiti Sains Malaysia (USM), Penang, 11800, Malaysia; 11Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, 27272, United Arab Emirates; 12Department of Clinical and Community Pharmacy, College of Medicine and Health Sciences, An-Najah National University, Nablus, 44839, Palestine; 13Clinical Research Centre, An-Najah National University Hospital, Nablus, 44839, Palestine; 14Developmental Biology & Cancer Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK; 15Edgware Community Hospital Barnet, Enfield and Haringey Mental Health NHS Trust, London, UKCorrespondence: Ammar Abdulrahman Jairoun; Moyad Shahwan, Tel +971558099957; 9716 705 6249, Email Dr_ammar_91_@hotmail.com; moyad76@hotmail.comBackground: Several studies indicate a correlation between consanguinity and genetic disorders, congenital malformations, harm to reproductive health, and increased child mortality.Objective: To assess students’ knowledge and attitudes about risks and prevention of consanguineous marriage.Methods: Demographic details of the participants and data on knowledge and attitudes concerning the risks and prevention of consanguineous marriage were obtained using an online self-administered questionnaire. …”
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Prevention of hemoglobinopathies in Turkey by Mehmet Akif Çürük, Erdinç Yalın, Kıymet Aksoy

“…<p>Hemoglobinopathies are the most common genetic disorders in Turkey. The incidence of beta thalassemia and sickle cell trait (HbAS) is 2.0% and 0.3% respectively. …”
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