Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA... by Carla Gaggiano, Antonio Vitale, Laura Obici, Giampaolo Merlini, Alessandra Soriano, Ombretta Viapiana, Marco Cattalini, Maria Cristina Maggio, Giuseppe Lopalco, Davide Montin, Masen Abdel Jaber, Lorenzo Dagna, Raffaele Manna, Antonella Insalaco, Matteo Piga, Francesco La Torre, Virginia Berlengiero, Viviana Gelardi, Luisa Ciarcia, Giacomo Emmi, Piero Ruscitti, Francesco Caso, Rolando Cimaz, José Hernández-Rodríguez, Paola Parronchi, Ludovico Luca Sicignano, Elena Verrecchia, Florenzo Iannone, Jurgen Sota, Salvatore Grosso, Carlo Salvarani, Bruno Frediani, Roberto Giacomelli, Maria Antonietta Mencarelli, Alessandra Renieri, Donato Rigante, Luca Cantarini

“…Abdominal pain was significantly associated also to the presence of HP mutations (p<0.01), while oral aphthosis was more frequently found in the LP variant group (p<0.05). …”
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Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson’s Disease Penetrance by Alessandra Zanon, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler

“…Many mutations are clearly pathogenic in some patients while carriers of other mutations either do not develop the disease or show a delayed onset, a phenomenon known as reduced penetrance. …”
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Idiopathic Generalized Epilepsy and Hypokalemic Periodic Paralysis in a Family of South Indian Descent by Muthiah Subramanian, N. Senthil, S. Sujatha

“…Functional analysis of voltage gated calcium channel and other ion channels mutations may provide additional support and insight for the causal role of these mutations. …”
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Beta-Thalassemia in Iran: New Insight into the Role of Genetic Admixture and Migration by Ali Reza Rezaee, Mohammad Mehdi Banoei, Elham Khalili, Massoud Houshmand

“…Studies have revealed the presence of more than 47 different β-globin gene mutations responsible for β-Thalassemia in Iran. This paper is an attempt to study the origin of β-Thalassemia mutations in different parts of Iran. …”
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Mitochondrial Cytochrome c Oxidase Subunit 1 Sequence Variation in Prostate Cancer by Takara A. Scott, Rebecca S. Arnold, John A. Petros

“…Mitochondrial DNA (mtDNA) mutations have been described in every adult neoplasm including prostate cancer. …”
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Progression of ampC amplification during de novo amoxicillin resistance development in E. coli by Luyuan Nong, Martijs Jonker, Wim de Leeuw, Meike T. Wortel, Benno ter Kuile

“…Compared to evolved ∆ampC, several resistance-causing mutations are absent in evolved WT, while more mutations accumulated in stress response. …”
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Genetic Analysis of MEFV Gene Pyrin Domain in Patients With Behçet's Disease by Ahmet Dursun, Hatice Gul Durakbasi-Dursun, Ayse Gul Zamani, Zerrin Gülin Gulbahar, Recep Dursun, Cengiz Yakicier

“…Neither deletion or insertion mutations nor point mutations in pyrin domain were found in any patient. …”
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Current Genetic Epidemiology of 𝛽-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements by Antonio Amato, Maria Pia Cappabianca, Alessia Colosimo, Maria Perri, Paola Grisanti, Ivo Zaghis, Donatella Ponzini, Maria Lerone

“…The aim of this study was to describe the changing pattern of mutational spectrum of 𝛽-thalassemia (𝛽-thal) in the Lazio region (Central Italy), as consequence of recent demographic variations. …”
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The Development of Methods of BLOTCHIP^®-MS for Peptidome: Small Samples in Tuberous Sclerosis by Kunio Yui, George Imataka, Kotaro Yuge, Hitomi Sasaki, Tadashi Shiohama, Kyoichi Asada, Hidehisa Tachiki

“…Mutations in TSC1 or TSC2 in axons induce tuberous sclerosis complex. …”
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Genotype and phenotype association in Leber’s hereditary optic neuropathy by L. Matukynaitė, R. Liutkevičienė, A. Gelžinis, R. Žemaitienė

“…Point mutations that occur in deoxyribonucleic acid leads to mitochondrial respiratory chain I complex damage in all main known mutations. …”
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Development of animal models to study aggressive thyroid cancers by Shovan Dutta, Jeffrey A Knauf

“…Recent studies exploring the genomic landscape of advanced thyroid cancer have identified several cooperating mutations, which are secondary genetic alterations that work alongside driver mutations to promote thyroid tumor progression. …”
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Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference by Milan Jaiswal, BA, Lucas Ribe, MD, Rana O. Afifi, MD, Yuki Ikeno, MD, Alana C. Cecchi, MS, Bihong Zhao, MD, PhD, Akiko Tanaka, MD, PhD, Gustavo S. Oderich, MD, L. Maximilian Buja, MD, Dianna M. Milewicz, MD, PhD, Siddharth K. Prakash, MD, PhD, Anthony L. Estrera, MD

“…Heritable thoracic aortic disease is caused by dominantly inherited mutations in more than a dozen genes, including TGFB2 mutations that cause Loeys-Dietz syndrome. …”
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The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants by Katayoun Heshmatzad, Nejat Mahdieh, Ali Rabbani, Abdolah Didban, Bahareh Rabbani

“…Four mutations were responsible for half of patients. 39 homozygous patients had MRAP mutations; 14 variants were determined in the MRAP gene. …”
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Exploring practical experience with different treatments in NSCLC patients with MET-deregulated: a retrospective analysis from the real world by Mengmeng Li, Jiuyan Huang, Ruyue Xing, Xinyang Du, Chunhua Wei, Huijuan Wang

“…Methods We retrospectively examined 160 NSCLC patients: 125 with primary MET mutations (further classified into MET exon 14 (METex14) skipping mutations and primary MET amplifications) and 35 with secondary MET amplifications. …”
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Pancreatic Ductal Organoids React Kras Dependent to the Removal of Tumor Suppressive Roadblocks by Lukas Perkhofer, Melanie Engler, Johann Gout, Frank Arnold, Mareen Morawe, Markus Breunig, Thomas Seufferlein, Alexander Kleger, Pierre-Olivier Frappart

“…The developmental process of PDAC is thought to be stepwise via precursor lesions and sequential accumulation of mutations. Thereby, current sequencing studies recapitulate this genetic heterogeneity in PDAC and show besides a handful of driver mutations (KRAS, TP53) a plethora of passenger mutations that allow to define subtypes. …”
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Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran by Hossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, Mohammad Reza Mahdavi

“…The identified mutations were also checked on the parent’s sample. …”
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PTEN Gene: A Model for Genetic Diseases in Dermatology by Corrado Romano, Carmelo Schepis

“…PTEN gene is considered one of the most mutated tumor suppressor genes in human cancer, and it’s likely to become the first one in the near future. …”
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Rat Sarcoma Virus Family Genes in Acute Myeloid Leukemia: Pathogenetic and Clinical Implications by Shaimaa Khattab, Adriatik Berisha, Natalia Baran, Pier Paolo Piccaluga

“…<i>RAS</i> oncogene mutations are common in AML patients, being observed in about 15–20% of AML cases. …”
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Molecular mechanisms of autism as a form of synaptic dysfunction by E. A. Trifonova, T. M. Khlebodarova, N. E. Gruntenko

“…Genetic screening has identified hundreds of mutations and other genetic variations associated with autism, and bioinformatic analysis of signaling pathways and gene networks has led to understanding that many of these mutational changes are involved in the functioning of synapses. …”
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Dysregulation of NK and CD8+T Cells by the Microbiota Promotes the Progression of Lung Cancer by Shouxin Hu, Yanfang Zha, Wenwen Yang, Kele Cui, Min Cheng

“…In this study, using a Kras-mutated-driven spontaneous lung cancer mouse model, we found that the depletion of microbiota can alleviate lung lesions in Kras-mutated mice at different stages of tumour development. …”
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