Article
Multidisciplinary Sciences
Asmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, Gudny M. Arnadottir, Valgerdur Steinthorsdottir, Gisli Halldorsson, Bjarni O. Atlason, Gudjon Oskarsson, Hannes Helgason, Henriette Svarre Nielsen, David A. Westergaard, Juha Karjalainen, Hildigunnur Katrinardottir, Run B. Fridriksdottir, Brynjar Jensson, Vinicius A. Tragante, Egil Ferkingstad, Hakon Jonsson, Sigurjon Gudjonsson, Doruk Beyter, Kristjan H. S. Moore, Helga Thordardottir, Snaedis Kristmundsdottir, Olafur Stefansson, Solbritt Rantapaa-Dahlqvist, Ida Elken Sonderby, Maria A. Didriksen, Pernilla Stridh, Jan Haavik, Laufey Tryggvadottir, Oleksandr Frei, G. Bragi Walters, Ingrid Kockum, Henrik Hjalgrim, Thorunn Olafsdottir, Geir Selbaek, Mette Nyegaard, Christian Erikstrup, Thorsten Brodersen, Saedis Saevarsdottir, Tomas Olsson, Kaspar Rene Nielsen, Asgeir Haraldsson, Mie Topholm Bruun, Thomas Folkmann Hansen, Thora Steingrimsdottir, Rikke Louise T. Jacobsen, Rolv Lie, Srdjan Djurovic, Lars Alfredsson, Aitzkoa Lopez de Lapuente Portilla, Soren Brunak, Pall V. Melsted, Bjarni Halldorsson, Jona Saemundsdottir, Olafur Th. Magnusson, Leonid Padyukov, Karina Banasik, Thorunn Rafnar, Johan Askling, Lars Klareskog, Ole Birger Pedersen, Gisli Masson, Alexandra Havdahl, Bjorn A. Nilsson, Ole Andreassen, Mark Daly, Sisse Rye Ostrowski, Ingileif Jonsdottir, Hreinn Stefansson, Hilma Holm, Agnar Helgason, Unnur Thorsteinsdottir, Kari F. Stefansson, Daniel Gudbjartsson
Summary: Using genetic data from 1.52 million individuals, the authors identified 25 genes with protein-altering variants that are essential for successful early development. It is challenging to find genotypes causing pregnancy loss and perinatal mortality, as they are depleted among living individuals.
NATURE COMMUNICATIONS
(2023)
Editorial Material
Medicine, Research & Experimental
Christen L. Ebens
Summary: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic blistering skin disease caused by biallelic mutations in the COL7A1 gene. Clinical manifestations include fragile skin, pain, itch, high metabolic demand, and dermal fibrosis.
EMBO MOLECULAR MEDICINE
(2021)
Article
Clinical Neurology
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Dario Ortigoza-Escobar, Aisha M. AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesus Martinez-Gonzalez, Kristin M. Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J. Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T. Pascher, Marina Vogel, Angela Abicht, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M. Strom, Hanns Lochmueller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H. Zackai, Beth A. Keena, Cara M. Skraban, Seth Berger, Erin H. Andrew, Elham Rahimian, Michelle M. Morrow, Ingrid M. Wentzensen, Francisca Millan, Lindsay B. Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M. Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R. Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R. Lupski, Jan Senderek, John Christodoulou, Wendy K. Chung, Rose Goodchild, Amaka C. Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Summary: This study systematically assesses the characteristics of 56 individuals with autosomal-recessive TOR1A-related disease, including their clinical, radiological, and molecular features. The study defines the phenotypic spectrum, identifies core clinical symptoms, and highlights predictors for disease severity and survival.
Article
Biology
Bryn D. Webb, Sara M. Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J. Rodenburg, Joao Leandro, Anthony Evans, Hieu S. Vu, Thomas P. Naidich, Bruce D. Gelb, Ralph J. DeBerardinis, Jared Rutter, Sander M. Houten
Summary: In this study, we reported a patient with pathogenic variants in MCAT, presenting with hypotonia, failure to thrive, nystagmus, and abnormal brain MRI findings. Biallelic variants in MCAT were identified through whole exome sequencing. Protein levels of subunits of complex I and IV, NDUFB8 and COXII respectively, were significantly reduced in lymphoblasts and fibroblasts, as well as SDHB for complex II in fibroblasts. ETC enzyme activities were decreased accordingly. Re-expression of wild-type MCAT rescued the phenotype in patient fibroblasts. This is the first report of a patient with MCAT pathogenic variants and combined oxidative phosphorylation deficiency.
Review
Biochemistry & Molecular Biology
Guendalina Bastioli, Maria Regoni, Federico Cazzaniga, Chiara Maria Giulia De Luca, Edoardo Bistaffa, Letizia Zanetti, Fabio Moda, Flavia Valtorta, Jenny Sassone
Summary: Parkinson's disease is a common neurodegenerative movement disorder characterized by the loss of dopamine neurons in the substantia nigra pars compacta. Clinical symptoms include bradykinesia, rigidity, resting tremors, and postural instability. While most cases of PD have sporadic onset, familial PD has been linked with rare genetic mutations, providing insight into the mechanism of dopamine neuron death in the disease.
Article
Immunology
Tom Le Voyer, Sonoko Sakata, Miyuki Tsumura, Taushif Khan, Ana Esteve-Sole, Bandar K. Al-Saud, Hatice Eke Gungor, Prasad Taur, Valentine Jeanne-Julien, Mette Christiansen, Lisa-Maria Koehler, Gehad Eltayeb ElGhazali, Jeremie Rosain, Shiho Nishimura, Fumiaki Sakura, Matthieu Bouaziz, Carmen Oleaga-Quintas, Alejandro Nieto-Patlan, Angela Deya-Martinez, Yasemin Altuner Torun, Anna-Lena Neehus, Manon Roynard, Sefika Elmas Bozdemir, Nawal Al Kaabi, Moza Al Hassani, Irina Mersiyanova, Flore Rozenberg, Carsten Speckmann, Ina Hainmann, Fabian Hauck, Mohammed Hamdan Alzahrani, Sami Hussain Alhajjar, Saleh Al-Muhsen, Theresa Cole, Ramsay Fuleihan, Peter D. Arkwright, Raffaele Badolato, Laia Alsina, Laurent Abel, Mukesh Desai, Hamoud Al-Mousa, Anna Shcherbina, Nico Marr, Stephanie Boisson-Dupuis, Jean-Laurent Casanova, Satoshi Okada, Jacinta Bustamante
Summary: Autosomal recessive STAT1 deficiency is a severe genetic immune disorder that predisposes patients to viral and mycobacterial infections. Patients often suffer from mycobacterial diseases and severe viral episodes, with a higher mortality rate in those with complete STAT1 deficiency. Differentiation between complete and partial forms of AR STAT1 deficiency is crucial for clinical management and outcome.
JOURNAL OF IMMUNOLOGY
(2021)
Article
Clinical Neurology
Guy Lenaers, Cleis Beaulieu, Majida Charif, Sylvie Gerber, Josseline Kaplan, Jean-Michel Rozet
Summary: Leber Hereditary Optic Neuropathy (LHON) is a neurodegenerative disorder of the optic nerve. It is commonly attributed to mutations in the mitochondrial genome, but recent studies have found that mutations in the nuclear genome can also cause the same phenotype. This study compares the characteristics of autosomal recessive LHON and mitochondrial LHON.
Review
Biochemistry & Molecular Biology
Adrian Cordido, Marta Vizoso-Gonzalez, Miguel A. Garcia-Gonzalez
Summary: ARPKD is a rare disorder linked to the PKHD1 and DZIP1L genes, with research elucidating molecular pathways involved in disease progression. However, understanding of the function of ARPKD proteins and the disease's molecular mechanism remains incomplete.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Mark J. O'Connor, Philip Schroeder, Alicia Huerta-Chagoya, Paula Cortes-Sanchez, Silvia Bonas-Guarch, Marta Guindo-Martinez, Joanne B. Cole, Varinderpal Kaur, David Torrents, Kumar Veerapen, Niels Grarup, Mitja Kurki, Carsten F. Rundsten, Oluf Pedersen, Ivan Brandslund, Allan Linneberg, Torben Hansen, Aaron Leong, Jose C. Florez, Josep M. Mercader
Summary: GWAS using a recessive model identifies new loci associated with type 2 diabetes, including variants with larger effects.
Article
Agronomy
Jie Song, Lei Li, Bingyan Liu, Yachao Dong, Yan Dong, Faji Li, Siyang Liu, Xumei Luo, Mengjing Sun, Zhongqiu Ni, Shuaipeng Fei, Xianchun Xia, Zhongfu Ni, Zhonghu He, Shuanghe Cao
Summary: This study fine mapped RHT26 for plant height in wheat, confirmed its genetic effects in wheat cultivars, and predicted candidate genes. Developing wheat cultivars with appropriate plant height is an important breeding goal. The findings provide a foundation for map-based cloning of RHT26 and a tool for marker-assisted selection.
THEORETICAL AND APPLIED GENETICS
(2023)
Article
Genetics & Heredity
Qingyang Xiao, Volker M. Lauschke
Summary: This study analyzed the genetic variability of genes associated with autosomal recessive disorders across seven ethnogeographic groups, revealing population-specific disease prevalence differences and founder mutations. The research provides valuable insights into epidemiology, complexity, and population-specific effects of autosomal recessive diseases, serving as a useful resource for informing genetic screening programs for clinical geneticists.
NPJ GENOMIC MEDICINE
(2021)
Article
Multidisciplinary Sciences
Junli Zhang, Chengxia Li, Wenjun Zhang, Xiaoqin Zhang, Youngjun Mo, Gabriela E. Tranquilli, Leonardo S. Vanzetti, Jorge Dubcovsky
Summary: Plant height is an important agronomic trait that affects grain yield. The GA-insensitive dwarfing alleles (Rht1b) have positive effects on lodging and harvest index in Green Revolution wheat varieties, but they also reduce coleoptile length, biomass production, and yield potential. Therefore, alternative GA-sensitive dwarfing genes are being sought.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biochemistry & Molecular Biology
Wenlong Yang, Yafei Li, Linhe Sun, Muhammad Shoaib, Jiazhu Sun, Dongzhi Wang, Xin Li, Dongcheng Liu, Kehui Zhan, Aimin Zhang
Summary: The study mapped the gene controlling male sterility in line 15 Fan 03 to a specific region on chromosome 4BS, providing a foundation for marker-assisted selection in wheat hybrid breeding. Three CAPS markers were developed and verified for this purpose, enhancing the utilization of male sterility genetic resources.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Agronomy
John O. Oladokun, Nagendra S. Barua, Palash D. Nath
Summary: The study identified a highly resistant genotype, Solanum pimpinellifolium AAU2019, as a potential donor parent in breeding programmes to develop tomato cultivars with resistance to tomato leaf curl virus (ToLCV). It was found that a monogenic recessive gene is responsible for the resistance in S. pimpinellifolium AAU2019. This finding is of great significance for breeding tomato varieties resistant to ToLCV.
Article
Multidisciplinary Sciences
Masaki Matsushita, Hiroshi Kitoh, Kenichi Mishima, Yasunari Kamiya, Daisaku Kato, Genta Takemoto, Kenta Sawamura, Shinji Ueno, Nakai Yasuhiro, Kazuki Nishida, Shiro Imagama
Summary: The study aimed to evaluate the safety and pharmacokinetics (PK) of meclizine in children with Achondroplasia (ACH) after a 14-day-repeated dose. It was found that meclizine 12.5 or 25 mg/day can be safely administered in ACH patients without serious adverse events. The recommended dosage for long-term administration in phase 2 clinical trials is 12.5 or 25 mg/day.
Article
Dermatology
Rajna Ogrin, Mohammod A. Motin, Behzad Aliahmad, Kylie Elder, Jacinta Anderson, Dinesh Kumar
Summary: This study investigated the effectiveness of using thermal imaging to predict venous leg ulcer healing in the homes of participants. The results showed that thermal imaging could not predict the healing progression of ulcers when taken in home settings.
INTERNATIONAL JOURNAL OF LOWER EXTREMITY WOUNDS
(2023)
Review
Cardiac & Cardiovascular Systems
Muhammad Umer, Manish Motwani, John L. Jefferies, Sherif F. Nagueh, Dinesh K. Kalra
Summary: Fabry disease is a rare X-linked disorder that affects glycosphingolipid metabolism. It is caused by alpha-galactosidase A enzyme deficiency, leading to the accumulation of GL3 in lysosomes. Multiple systems are affected, with cardiac involvement being a significant manifestation. Early symptoms include neuropathic pain, skin lesions, anhidrosis, corneal changes, and gastrointestinal symptoms. Later stages may involve strokes, hearing loss, and life-threatening complications. This review focuses on the cardiac manifestations of Fabry disease and the role of multimodality imaging in diagnosis and monitoring.
CURRENT PROBLEMS IN CARDIOLOGY
(2023)
Article
Multidisciplinary Sciences
Dinesh Kumar, Frederic Ayant, Kottakkaran Sooppy Nisar, Daya Lal Suthar
Summary: In this article, we introduce the concepts of fractional-order Kober and generalized Weyl q-integrals, as well as present the properties and results of Riemann-Liouville and Weyl fractional q-integral transforms. By specializing variables and parameters, a wide variety of useful basic functions can be obtained.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES INDIA SECTION A-PHYSICAL SCIENCES
(2023)
Article
Agronomy
Jacqueline Raiter, Bianca Santana de Cecco, Luiza Presser Ehlers, Luan Cleber Henker, Daniela Nicknich, Ana Caroline Velasques Fonseca, Franciele Maboni Siqueira, Moira Ansolch da Silva Oliveira, David Driemeier, Luciana Sonne
Summary: This article described a case of fatal septicemic yersiniosis in a young adult brown titi monkey and emphasized the importance of considering yersiniosis as a differential diagnosis in the death of brown titi monkeys.
Article
Veterinary Sciences
Anderson H. Gris, Ronaldo M. Bianchi, Claiton I. Schwertz, Manoela M. Piva, Gabriela Richter, Luciana Sonne, David Driemeier, Saulo P. Pavarini
Summary: This study describes the clinical and pathological features of five cases of pituitary adenoma associated with PPID in horses, with a mean age of 22 years. The main clinical signs were hirsutism and hind limb paresis. Post mortem examination revealed hirsutism and pituitary adenoma in all horses, histologically characterized as adenoma of the pars intermedia. Additionally, two horses had gross lesions suggestive of chronic laminitis, and parasitism of various parasites was also observed.
PESQUISA VETERINARIA BRASILEIRA
(2023)
Article
Agriculture, Dairy & Animal Science
Claiton I. Schwertz, Ronaldo M. Bianchi, Andreia Vielmo, Manoela M. Piva, Anderson Hentz Gris, Saulo P. Pavarini, David Driemeier
Summary: In this study, we investigated cases of congenital defects in calves born on a farm in Southern Brazil. Only calves born from heifers were affected, and the disease occurred in both crossbred and purebred calves. Necropsies, histopathology, and mineral level quantification were conducted to analyze the potential causes. The findings supported a diagnosis of chondrodysplasia caused by insufficient levels of manganese in the diet of heifers.
TROPICAL ANIMAL HEALTH AND PRODUCTION
(2023)
Article
Biotechnology & Applied Microbiology
Young-Lim Lee, Mirte Bosse, Haruko Takeda, Gabriel Costa Monteiro Moreira, Latifa Karim, Tom Druet, Claire Oget-Ebrad, Wouter Coppieters, Roel F. Veerkamp, Martien A. M. Groenen, Michel Georges, Aniek C. Bouwman, Carole Charlier
Summary: This study aimed to generate and explore a high-quality bovine structural variant (SV) catalogue and discovered two high impact duplications affecting gene expression. These duplications are associated with postpartum feed intake and hoof health traits. However, most copy number variants (CNVs) were not captured by the 50K genotyping array.
Article
Oncology
Youri Hoogstrate, Kaspar Draaisma, Santoesha A. Ghisai, Levi van Hijfte, Nastaran Barin, Iris de Heer, Wouter Coppieters, Thierry P. P. van den Bosch, Anne Bolleboom, Zhenyu Gao, Arnaud J. P. E. Vincent, Latifa Karim, Manon Deckers, Martin J. B. Taphoorn, Melissa Kerkhof, Astrid Weyerbrock, Marc Sanson, Ann Hoeben, Slavka Lukacova, Giuseppe Lombardi, Sieger Leenstra, Monique Hanse, Ruth E. M. Fleischeuer, Colin Watts, Nicos Angelopoulos, Thierry Gorlia, Vassilis Golfinopoulos, Vincent Bours, Martin J. van den Bent, Pierre A. Robe, Pim J. French
Summary: A better understanding of the transcriptional evolution of IDH-wild-type glioblastoma is crucial for optimizing treatment. Through RNA sequencing, this study demonstrates that glioblastomas mainly evolve through microenvironmental reorganization rather than molecular evolution of tumor cells. The changes in tumor composition over time, including alterations in neuron and oligodendrocyte marker genes and an increase in tumor-associated macrophages, are confirmed by single-cell RNA-seq and immunohistochemistry.
Article
Genetics & Heredity
Simara Larissa Fanalli, Bruna Pereira Martins da Silva, Julia Dezen Gomes, Vivian Vezzoni de Almeida, Gabriel Costa Monteiro Moreira, Barbara Silva-Vignato, Juliana Afonso, Felipe Andre Oliveira Freitas, James Mark Reecy, James Eugene Koltes, Dawn Koltes, Dorian Garrick, Luciana Correia de Almeida Regitano, Julio Cesar de Carvalho Balieiro, Gerson Barreto Mourao, Luiz Lehmann Coutinho, Heidge Fukumasu, Mirele Daiana Poleti, Severino Matias de Alencar, Albino Luchiari Filho, Aline Silva Mello Cesar
Summary: This study evaluated the impact of different lipid sources on gene expression in porcine skeletal muscle tissue using RNA-Seq, and identified differentially expressed genes involved in metabolic pathways and biological processes. Addition of fish oil in pig diets resulted in intramuscular lipid with a higher composition of certain fatty acids. Blood parameters showed lower cholesterol and HDL content in the fish oil group compared to the other two groups. Enrichment analysis revealed differentially expressed genes related to lipid metabolism, metabolic diseases, and inflammation, as well as specific gene functions and altered blood parameters in each group.
FUNCTIONAL & INTEGRATIVE GENOMICS
(2023)
Review
Biochemistry & Molecular Biology
Aangi J. Shah, Taylor Beckmann, Mounica Vorla, Dinesh K. Kalra
Summary: Pulmonary arterial hypertension (PAH) is a chronic and progressive disorder that affects the pulmonary vasculature and leads to pulmonary and cardiac remodeling. Despite improved life expectancy through targeted therapies, PAH still remains a progressive disease with significant morbidity and mortality. Current vasodilator therapies do not target the underlying pathogenesis of the disease, highlighting the need for the development of new drugs and interventional therapies. This review focuses on newer targets, drugs, and interventional therapies that modify various pathways involved in the pathogenesis of PAH.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Sathnur Pushpakumar, Mahavir Singh, Yuting Zheng, Oluwaseun E. Akinterinwa, Sri Prakash L. Mokshagundam, Utpal Sen, Dinesh K. Kalra, Suresh C. Tyagi
Summary: Renal denervation (RDN) protects against hypertension, hypertrophy, and heart failure (HF) but it is unclear whether RDN preserves ejection fraction (EF) during HFpEF. By creating an aorta-vena cava fistula (AVF) in mice, this study demonstrated that RDN is cardioprotective during HFpEF via preservation of eNOS and endocardial-endothelial function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Amit Rout, Sanchit Duhan, Muhammad Umer, Miranda Li, Dinesh Kalra
Review
Cardiac & Cardiovascular Systems
Dinesh K. Kalra, Mounica Vorla, Erin D. Michos, Anandita Agarwala, Salim Virani, Bart Duell, Frederick J. Raal
Summary: With the improvement of antiretroviral therapy, the life expectancy of people living with HIV has increased, but cardiovascular disease has become a major cause of morbidity and mortality in this aging population. Therefore, it is crucial to assess and treat cardiovascular disease risk factors, including dyslipidemia, in this population. However, there is limited evidence regarding the pathogenesis and management of dyslipidemia in people living with HIV.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Editorial Material
Medicine, General & Internal
U. Sagheer, M. K. Shotwell, M. Umer, W. Furtado, J. Joshi, D. K. Kalra
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE
(2023)
Article
Mathematical & Computational Biology
Zhi-Liang Hu, Carissa A. Park, James M. Reecy
Summary: A precise description of traits is crucial in genetics and genomics studies. Despite previous standardization efforts, capturing trait nomenclature granularity remains a challenge. However, by using trait modifiers and qualifiers to extend livestock trait ontologies, the management and curation of trait information have been streamlined.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
(2023)