Article
Genetics & Heredity
Elisa De Paolis, Andrea Urbani, Lisa Salvatore, Laura Foca, Giampaolo Tortora, Angelo Minucci, Paola Concolino
Summary: Gallbladder carcinoma is an aggressive malignancy with poor prognosis and high fatality rate. Genetic alterations, including germline or somatic mutations, play a crucial role in the pathogenesis of gallbladder cancer. Expanding the use of next-generation sequencing in gallbladder cancer may help identify new molecular markers for predisposition and prognosis, leading to potential targeted therapies for patients with ATM-deficient cancers.
Article
Clinical Neurology
Wei Shern Lee, Emma Macdonald-Laurs, Sarah Stephenson, Colleen D'Arcy, Wirginia Maixner, A. Simon Harvey, Paul J. J. Lockhart, Richard J. J. Leventer
Summary: This study describes a child with diagnosed tuberous sclerosis complex (TSC) who carries a pathogenic somatic variant in RHEB, but no pathogenic variants in the known TSC genes, TSC1 or TSC2. The findings suggest that variants in RHEB may explain some genetically undiagnosed TSC cases, potentially making it the third gene for TSC, or TSC3.
Article
Genetics & Heredity
Kymbat Mukhtarova, Elena Zholdybayeva, Ulykbek Kairov, Ilyas Akhmetollayev, Chingiz Nurimanov, Marat Kulmirzayev, Yerbol Makhambetov, Yerlan Ramankulov
Summary: Arteriovenous malformations (bAVMs) are a common condition that can lead to hemorrhagic stroke, particularly in children and young people. Recent research has suggested that genetic mutations may play a role in the development of bAVMs. This study analyzed the genome data of a male patient with bAVM and identified a potential genetic mechanism involving a mutation in the SIRT1 gene.
Article
Gastroenterology & Hepatology
Peter P. Stanich, Dareen Elgindi, Elena Stoffel, Erika Koeppe, Ajay Bansal, Rachel Stetson, Debra L. Collins, Dana Farengo Clark, Eve Karloski, Beth Dudley, Randall E. Brand, Michael J. Hall, Yana Chertock, Brian A. Sullivan, Charles Muller, Alice Hinton, Bryson W. Katona, Sonia S. Kupfer
Summary: The discovery rate of colorectal neoplasia in CDH1 variant carriers is similar to that of the general population, indicating the importance of colorectal cancer screening in this population.
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Medicine, Research & Experimental
Masha Kolesnikova, Jin Kyun Oh, Jiali Wang, Winston Lee, Jana Zernant, Pei-Yin Su, Angela H. Kim, Laura A. Jenny, Tingting Yang, Rando Allikmets, Stephen H. Tsang
Summary: In this study, we report on a 2-generation family with Stargardt disease-like phenotype caused by a mutation in the BEST1 gene. The clinical examination and molecular experiments revealed the differences in phenotype and functional changes between the affected members.
Article
Oncology
P. Terraf, F. Pareja, D. N. Brown, O. Ceyhan-Birsoy, M. Misyura, S. Rana, E. O'Reilly, M. Carlo, C. Aghajanian, Y. Liu, F. Derakhshan, G. Jayakumaran, B. Weigelt, M. Walsh, Z. Stadler, K. Offit, M. Ladanyi, M. Robson, A. Zehir, J. S. Reis-Filho, D. Mandelker
Summary: Tumor-only sequencing is suitable for the detection of clinically actionable germline variants, particularly for single-nucleotide variants (SNVs) and small indels. However, for alterations affecting HRD, DDR, and MMR genes, the detection may not be optimal. Clinical genetic testing should be considered for high-risk patients with negative tumor-only sequencing results.
ANNALS OF ONCOLOGY
(2022)
Article
Medicine, Research & Experimental
Avisa Tabib, Taravat Talebi, Serwa Ghasemi, Maryam Pourirahim, Niloofar Naderi, Majid Maleki, Samira Kalayinia
Summary: In this research, using whole-exome sequencing (WES), we reported for the first time a novel variant c.C244T in the FLT4 gene associated with congenital heart defects (CHDs), as well as a nonsynonymous variant c.C1403T in the PTPN11 gene. WES can be used clinically to determine gene variants in diseases with high genetic and phenotypic heterogeneity like CHDs.
EUROPEAN JOURNAL OF MEDICAL RESEARCH
(2022)
Article
Medicine, General & Internal
Uyenlinh L. Mirshahi, Jung Kim, Ana F. Best, Zongming E. Chen, Ying Hu, Jeremy S. Haley, Alicia Golden, Richard Stahl, Kandamurugu Manickam, Ann G. Carr, Laura A. Harney, Amanda Field, Jessica Hatton, Kris Ann P. Schultz, Andrew J. Bauer, D. Ashley Hill, Philip S. Rosenberg, Michael F. Murray, David J. Carey, Douglas R. Stewart
Summary: Genetic mutations in DICER1 are associated with increased risks of rare and common neoplasms and thyroid disease. This study found that germline DICER1 pLOF variants were more prevalent in the population than expected, and were significantly associated with risks of thyroid cancer. The genome-first approach may be an efficient method for risk estimation in clinical cohorts.
Article
Biochemical Research Methods
Renee Salz, Robbin Bouwmeester, Ralf Gabriels, Sven Degroeve, Lennart Martens, Pieter-Jan Volders, Peter A. C. 't Hoen
Summary: The study found a low accuracy in detecting SAAV peptides without prior genomic information, highlighting the importance of incorporating genetic variants for correct peptide identification. Additionally, inclusion of long-read RNA sequences in the search database only contributed minimally to new peptide identifications.
JOURNAL OF PROTEOME RESEARCH
(2021)
Article
Multidisciplinary Sciences
Xiaoqin Zhan, Chris Drummond-Main, Dylan Greening, Jinjing Yo, S. W. R. Chen, J. P. Appendino, P. Y. Billie Au, Ray W. Turner
Summary: The study reveals that cannabidiol has the ability to reduce the effects of a pathogenic KCNQ variant, which could be a potential therapeutic approach to reduce seizure activity and treat neurodevelopmental disorders.
Article
Genetics & Heredity
Elizabeth Wall, Joan Forsyth, Esther Kinning, Tamas Marton
Summary: We present a case of a fetus with hydrops, congenital heart disease, and bilateral radioulnar synostosis caused by a novel pathogenic MECOM variant. Whole genome sequencing identified a de novo heterozygous loss-of-function variant in MECOM, associated with Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT-2). This case highlights the importance of detailed phenotyping with post-mortem examination and the use of broad sequencing approaches.
PRENATAL DIAGNOSIS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Wenquan Zhao, Guanchen Ye, Qi Li, Yu Zhou, Xiaowen Yu, Yining Li, Mengfei Yu, Huiming Wang
Summary: This study identified potentially deleterious mutations in a Chinese pedigree with lingual hamartoma using whole-exome sequencing and RNA-sequencing. The study showed that the DYNC2H1 gene mutation may contribute to the pathogenesis of lingual hamartoma.
JOURNAL OF ORAL PATHOLOGY & MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Elisa Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida M. Bertoli-Avella, Sanna Hakli, Minna Kraatari-Tiri
Summary: Jones syndrome is a rare dominantly inherited syndrome characterized by gingival fibromatosis and progressive sensorineural hearing loss in the second decade of life. A study identified a specific REST variant as the cause of Jones syndrome based on sequencing data from a family with affected individuals. This finding suggests that pathogenic REST variants contribute to the development of Jones syndrome.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Oncology
Anna K. K. Nurmi, Maija Suvanto, Joe Dennis, Kristiina Aittomaeki, Carl Blomqvist, Heli Nevanlinna
Summary: The Finnish population has experienced multiple reductions, leading to decreased genetic diversity. Recurrent pathogenic variants have been found in Finnish breast cancer patients. Only a few variants account for most of the pathogenic burden in the risk genes. These results have implications for population screening strategies in Finland.
Article
Oncology
Lanlan Wang, Yali Ma, Wenjie Han, Qiumin Yang, Muhammad Jamil
Summary: By performing Whole Exome Sequencing (WES) on Pakistani lung cancer patients, this study identified clinically important pathogenic mutations in 6 DNA repair genes and revealed their potential implications on prognosis. Down-regulation of these mutated genes and hypermethylation in their promoters were observed, indicating a potential convergence of genetic and epigenetic factors driving genomic instability in lung cancer cells. These findings contribute to our understanding of lung cancer susceptibility and offer potential avenues for targeted therapeutic interventions in Pakistani patients.
AMERICAN JOURNAL OF CANCER RESEARCH
(2023)
Article
Education, Special
Malgorzata Ganc, Joanna Kobosko, W. Wiktor Jedrzejczak, Joanna Gruba, Henryk Skarzynski
Summary: Research indicates that early holistic support is crucial for the overall development, including social-emotional development, of deaf and hard-of-hearing children who use cochlear implants.
INTERNATIONAL JOURNAL OF DISABILITY DEVELOPMENT AND EDUCATION
(2023)
Article
Genetics & Heredity
Barbara Biedziak, Justyna Dabrowska, Anna Szponar-Zurowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Ewa Mojs, Jennifer Mulle, Rafal Ploski, Adrianna Mostowska
Summary: This study identified a family with a recurrent 3q29 deletion, which is associated with orofacial clefts. The results suggest that the 3q29 deletion may be the primary risk factor for orofacial clefts, with additional genomic variants, methylation changes, or environmental exposure serving as modifiers of this risk.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Gastroenterology & Hepatology
Juliane Glaubitz, Anika Wilden, Fabian Frost, Sabine Ameling, Georg Homuth, Hala Mazloum, Malte Christoph Ruehlemann, Corinna Bang, Ali A. Aghdassi, Christoph Budde, Tilmann Pickartz, Andre Franke, Barbara M. Broeker, Uwe Voelker, Julia Mayerle, Markus M. Lerch, Frank-Ulrich Weiss, Matthias Sendler
Summary: Understanding the role of T-reg/Th17 balance in maintaining intestinal barrier function is important for reducing the risk of severe disease and late death in acute pancreatitis (AP). Depletion of T-reg cells enhances the proinflammatory response and reduces bacterial translocation to the pancreas in a mouse model of AP. Targeting T-regs may help improve the course of the disease.
Article
Gastroenterology & Hepatology
Philipp Rausch, Sarah Ellul, Anthea Pisani, Corinna Bang, Trevor Tabone, Claire Marantidis Cordina, Graziella Zahra, Andre Franke, Pierre Ellul
Summary: Background: Microbial communities are believed to influence inflammatory processes in patients with inflammatory bowel disease (IBD), but these effects are often influenced by treatments and rarely studied in treatment-naive patients. Methods: Untreated IBD onset patients and healthy controls were recruited from Malta. Stool samples were collected and analyzed via sequencing to assess microbial communities. Results: Differences in community composition, variability, and diversity were observed between healthy and diseased individuals, but minimal differences were found between newly diagnosed UC and CD cohorts. Network analyses revealed changes in bacterial interactions, suggesting disease-specific alterations in community dynamics. Additionally, microbial community characteristics were identified as predictors for future treatments. Conclusion: Treatment-naive IBD onset patients from Malta show differences in microbial communities compared to healthy individuals, and future treatment options can be predicted based on microbial community characteristics.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Oncology
Stefanie V. V. Junk, Elke Schaeffeler, Martin Zimmermann, Anja Moericke, Rita Beier, Peter Schuette, Birthe Fedders, Julia Alten, Laura Hinze, Norman Klein, Andreas Kulozik, Martina U. U. Muckenthaler, Rolf Koehler, Arndt Borkhardt, Jayaram Vijayakrishnan, David Ellinghaus, Michael Forster, Andre Franke, Astrid Wintering, Christian P. P. Kratz, Martin Schrappe, Matthias Schwab, Richard S. S. Houlston, Gunnar Cario, Martin Stanulla
Summary: This study analyzed the impact of therapy-related hyperbilirubinemia on the treatment outcome of pediatric patients with acute lymphoblastic leukemia (ALL) and identified the contributing genetic risk factors. The study found that high hyperbilirubinemia had a negative impact on treatment outcome, and the rs6744284 variant in the UGT1A gene cluster was strongly associated with the risk of hyperbilirubinemia.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Genetics & Heredity
Natalia Baldyga, Dominika Ozieblo, Nina Gan, Mariusz Furmanek, Marcin L. Leja, Henryk Skarzynski, Monika Oldak
Summary: The study aimed to identify the cause of EVA in patients with hearing loss. Genetic testing found that pathogenic variants in the SLC26A4 gene and the CEVA haplotype accounted for a significant portion of EVA cases. The study also identified the involvement of the EYA1 and CHD7 genes in patients with EVA and branchio-oto-renal spectrum disorder.
Article
Biochemistry & Molecular Biology
Monika Matusiak, Dominika Ozieblo, Monika Oldak, Emilia Rejmak, Leszek Kaczmarek, Henryk Skarzynski
Summary: Congenitally deaf children who undergo cochlear implantation before 1 year of age show faster auditory skills development compared to those implanted later. In this study, plasma levels of certain proteins were measured in a group of implanted children divided into two subgroups based on their age at implantation. Results showed higher BDNF levels and lower LEAQ scores in the younger subgroup. Significant differences were observed in BDNF levels and LEAQ scores between the subgroups over time, as well as in MMP-9 levels. Comparison with a control group showed significant differences in protein levels between the older study subgroup and age-matched controls.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Allergy
Jelle M. Blankestijn, Alejandro Lopez-Rincon, Anne H. Neerincx, Susanne J. H. Vijverberg, Simone Hashimoto, Mario Gorenjak, Olaia Sardon Prado, Paula Corcuera-Elosegui, Javier Korta-Murua, Maria Pino-Yanes, Uros Potocnik, Corinna Bang, Andre Franke, Christine Wolff, Susanne Brandstetter, Antoaneta A. Toncheva, Parastoo Kheiroddin, Susanne Harner, Michael Kabesch, Aletta D. Kraneveld, Mahmoud Abdel-Aziz, Anke H. Maitland-van der Zee
Summary: This study aimed to investigate whether the gastrointestinal microbiome can differentiate between uncontrolled and controlled asthma in children. By analyzing samples from 143 children with moderate-to-severe asthma, it was found that machine learning, specifically REFS, can differentiate the control level of asthma in children. The results suggest that the gastrointestinal microbiome may be a potential biomarker for treatment responsiveness and help improve asthma control in children.
PEDIATRIC ALLERGY AND IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Younghun Y. Han, Jinyoung J. Byun, Catherine Zhu, Ryan R. Sun, Julia Y. Roh, Heather Cordell, Hyun-Sung A. Lee, Vikram R. Shaw, Sung Wook Kang, Javad Razjouyan, Matthew A. Cooley, Manal M. Hassan, Katherine A. Siminovitch, Trine Folseraas, David Ellinghaus, Annika Bergquist, Simon M. Rushbrook, Andre Franke, Tom H. Karlsen, Konstantinos N. Lazaridis, Katherine A. McGlynn, Lewis R. Roberts, Christopher Amos, Christoph Schramm, David Shapiro, Elizabeth Goode
Summary: This study used multitrait joint analyses to explore the genetic contribution and correlations between various clinical and epidemiological traits associated with PSC. Several new risk loci and potential susceptibility genes such as MANBA and IRF5 were identified, and in silico drug screening provided candidate agents for further investigation of pharmacological effects in PSC.
NATURE COMMUNICATIONS
(2023)
Article
Clinical Neurology
Yasmine Sommerer, Valerija Dobricic, Marcel Schilling, Olena Ohlei, Sanaz Sedghpour Sabet, Tanja Wesse, Janina Fuss, Soeren Franzenburg, Andre Franke, Laura Parkkinen, Christina M. Lill, Lars Bertram
Summary: This study conducted an epigenome-wide association study (EWAS) using DNAm profiles in entorhinal cortex (EC) from AD patients and control brains, and found several genomic loci associated with disease onset and progression. By integrating DNAm levels with mRNA expression data, significant correlations were observed for 6 of the significant CpGs. Additionally, accelerated epigenetic aging was found in the brains of AD patients compared to controls.
ALZHEIMERS RESEARCH & THERAPY
(2023)
Article
Genetics & Heredity
Katarzyna Bzdega, Mateusz Biela, Gail H. Deutsch, Joseph A. Kitzmiller, Malgorzata Rydzanicz, Rafal Ploski, Jeffrey A. Whitsett, Robert Smigiel, Justyna A. Karolak
Summary: Congenital alveolar dysplasia (CAD) is a rare and lethal lung developmental disorder characterized by respiratory failure and pulmonary arterial hypertension. Most CAD cases are associated with copy-number variant (CNV) deletions at 17q23.1q23.2 or 5p12. This study reports a novel non-recurrent CNV deletion involving TBX4 gene in a CAD patient, providing evidence that perturbations in TBX4, rather than TBX2, cause severe lung phenotypes in humans.
Correction
Cardiac & Cardiovascular Systems
Verena Limperger, Gili Kenet, Bettina Kiesau, Max Koether, Malin Schmeiser, Florian Langer, David Juhl, Maria Shneyder, Andre Franke, Ulrich C. Klostermeier, Rolf Mesters, Frank Ruehle, Monika Stoll, Dagmar Steppat, Dorothee Kowalski, Angela Rocke, Piotr Kuta, Tido Bajorat, Antje Torge, Bruno Neuner, Ralf Junker, Ulrike Nowak-Goettl
JOURNAL OF THROMBOSIS AND THROMBOLYSIS
(2023)
Article
Endocrinology & Metabolism
Marzena Gajecka, Pawel Gutaj, Katarzyna Jaskiewicz, Malgorzata Rydzanicz, Tomasz Szczapa, Dorota Kaminska, Grzegorz Kosewski, Juliusz Przyslawski, Rafal Ploski, Ewa Wender-Ozegowska
Summary: This study quantitatively and functionally examined the microbiota in maternal-neonatal dyads from gravidae with type 1 diabetes and explored the impact of pregnancy-specific factors on the microbiomes. It found that type 1 diabetes and certain confounding factors can influence the neonatal microbiomes.
Article
Psychology, Multidisciplinary
Monika Lewandowska, Rafal Milner, Malgorzata Ganc, Elzbieta Wlodarczyk, Joanna Dolzycka, Henryk Skarzynski
Summary: There are discrepancies in the literature regarding the course of central auditory processes (CAP) maturation in typically developing children and adolescents. The purpose of the study was to provide an overview of age-related improvement in CAP in Polish primary and secondary school students aged 7-16 years. The study found that different CAP have their own patterns of improvement with age and some of them are specific for the Polish population. The psychoacoustic battery may be useful in screening for CAP disorders in Poland.
CURRENT PSYCHOLOGY
(2023)