Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

“…In addition, this study demonstrates that a strategy sequentially including various genetic techniques contributes to the diagnosis of highly heterogeneous genetic disorders such as SD.…”
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Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy by Nipat Chuleerarux, Nadia Makkoukdji, Travis Satnarine, Jessica Elise Kuhn, Tanawin Nopsopon, Peerada Valyasevi, Fernanda Bellodi Schmidt, Gary Kleiner, Melissa Gans

“…Inborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system. …”
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Osteopetrosis and Hip Fracture. Case Report and Literature Review by Liyanira Alonso Leiva, José Julio Requeiro Molina, Ana María Machado Consuegra

“…Osteopetrosis constitutes a group of genetic disorders that determine skeletal sclerosis. It is also known as Albers-Schonberg disease. …”
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The Application of Convolutional Neural Network Combined with Fuzzy Algorithm in Colorectal Endoscopy for Tumor Assessment by Te-Jen Su, Feng-Chun Lee, Cheuk-Kwan Sun, Fu-Xiang Ke, Shih-Ming Wang, Ming-Chih Huang

“…In addition to uncontrollable factors such as family genetic disorders, diet, and bad habits, life stress may lead to an unhealthy body mass index (BMI), which, together with aging, increases the incidence of colorectal cancer. …”
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Image-Based Face Recognition Techniques Used in Disease Detection Approaches: A Survey by Ghalib Ahmed Salman, Inas Jawad Kadhim, Ahmed Husham Al-Badri

“…These alterations in facial patterns can serve as potential indicators for corresponding diseases, particularly in the fields of endocrinology and metabolism, Muscles-Nervous disorders, Chromosomes, and Genetic disorders, among others. Technologies used in Face Recognition (FR) have been developed over the past few decades; however, only a limited amount of research has been applied in recent years to FR-based disease detection for clinical purposes. …”
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The corpus callosum in people with congenital adrenal hyperplasia (CAH) by Eileen Luders, Debra Spencer, Caitlin Dale, Ieuan A. Hughes, Ajay Thankamony, Umasuthan Srirangalingam, Helena Gleeson, Helen Simpson, Melissa Hines, Florian Kurth

“…Abstract Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands. CAH manifests in abnormal levels of cortisol and androgens and is accompanied by white matter alterations. …”
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Therapeutic Potential of Mesenchymal Stem Cells in Regenerative Medicine by Devang M. Patel, Jainy Shah, Anand S. Srivastava

“…MSCs are currently being tested for their potential use in cell and gene therapy for a number of human debilitating diseases and genetic disorders. This paper summarizes the current clinical and nonclinical data for the use of MSCs in tissue repair and potential therapeutic role in various diseases.…”
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Airway basal stem cell therapy for lung diseases: an emerging regenerative medicine strategy by Xingren Liu, Xin Wang, Xue Wu, Shuhua Zhan, Yan Yang, Caiyu Jiang

“…Airway BSCs, which are strongly capable of self-renewal and multi-lineage differentiation, can effectively attenuate airway epithelial injury caused by environmental factors or genetic disorders, such as cystic fibrosis. This review comprehensively explores the efficacy and action mechanisms of airway BSCs across various lung disease models and describes potential strategies for inducing pluripotent stem cells to differentiate into pulmonary epithelial lineages on the basis of the original research findings. …”
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Responsive nanomaterials in biomedicine, patent path and prospect analysis by Xinrui Liu, Hongmei Yuan

“…For complex diseases such as cancer, chronic inflammation, and genetic disorders, traditional treatment methods are often limited by insufficient targeting and significant side effects. …”
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Regional anesthesia and muscle-wasting diseases in pediatrics: A focused educational review by Amr Elhamrawy, Islam Elmitwalli, Candice Burrier, Giorgio Veneziano, Joseph D. Tobias

“…The muscular dystrophies or muscle-wasting diseases include a diverse group of genetic disorders, which result in progressive degeneration of skeletal muscles, progressive muscle weakness, and comorbid multi-system involvement. …”
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Marfan Syndrome and Autosomal Dominant Polycystic Kidney Disease: A Case of Rare Co-occurrence or Coincidence? by Arjun Sekar

“… Background: Marfan syndrome (MFS) and autosomal dominant kidney disease (ADPKD) are two separate genetic disorders. The author describes the case of a young male with ADPKD who incidentally had Marfan-like features. …”
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Role of autophagy defects and significance of adherent-invasive <i>Escherichia coli</i> in Crohn's disease development by I. V. Mayev, D. N. Andreev, D. V. Rakitina, Yu. P. Baykova

“…To present new data on a role of molecular genetic disorders of innate immunity at Crohn's disease (CD), and to demonstrate the role of adherent-invasive Escherichia coli (AIEC) as the microorganisms potentially involved in CD development.Summary. …”
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

“…Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate defective mitochondrial RNA biology. …”
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A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

“…The etiology of these genetic disorders remains unknown, which can partly be due to the lack of independently characterized antibodies. …”
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siRNA therapeutics for effective management of rheumatoid arthritis by Vishakha R. Chakole, Tathagata Dutta, Priyankar Sen

“…This property makes siRNA a valuable tool for developing RNAi therapeutics, particularly for managing conditions like osteoporosis, cancer, genetic disorders, and autoimmune disorders. Rheumatoid arthritis (RA) is a significant autoimmune disorder. …”
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Measuring Measuring iron concentration in the blood samples of some autistic children from Baghdad City by Ezzuldin sulaiman, Hind Suhail Abdulhay

“…Possible causes for this condition include specific drugs, genetic disorders, or the dietary habits of the ASD. Iron may be a factor in ASD, and it's possible that Iraqi environmental pollution is the cause of the higher iron levels in autistic children. …”
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Stem Cell Therapy for Diseases of Livestock Animals: An In-Depth Review by Raghavendra B. Narasimha, Singireddy Shreya, Vijay Anand Jayabal, Vikas Yadav, Prasana Kumar Rath, Bidyut Prava Mishra, Sudhakar Kancharla, Prachetha Kolli, Gowtham Mandadapu, Sudarshan Kumar, Ashok Kumar Mohanty, Manoj Kumar Jena

“…In addition to the diseases mentioned, the potential of stem cells can be helpful in wound healing, skin disease therapy, and treatment of some genetic disorders. This article explores the potential of stem cells from various sources in the therapy of livestock diseases and also their role in the conservation of endangered species as well as disease model preparation. …”
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Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease by Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long

“…Abstract Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. …”
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A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma by Apoorva Pande, Samarth Shukla, Sourya Acharya, Pravin Gadkari, Milind Pande

“…Neurofibromatoses are a group of genetic disorders that cause tumours to form on the nerve tissue. …”
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Life expectancy of cats in Britain: moggies and mollies live longer by Fernando Mata

“…Unlike dogs, cats were not selectively bred for specific roles until the late 1800s, resulting in breeds defined primarily by appearance, which sometimes leads to genetic disorders. Modern animal welfare concerns emphasize longevity and health, prompting research into factors affecting cat lifespans, including sex, reproductive status, and breed. …”
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