Corrigendum to “Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress” by Anna Tarocco, Elisa Ballardini, Maria Raffaella Contiero, Giampaolo Garani, Silvia Fanaro

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ENL mutation and AML: a new model that reveals oncogenic condensate's function in leukemogenesis by Zhong Fan, Yanan Jiang, Xiaotian Zhang

“…Studies have shown that some transcriptional regulatory proteins influence gene expression through the formation of dynamic, locally concentrated assemblies known as condensates, while dysregulation of transcriptional condensates was associated with several cancers, such as Ewing sarcoma and AML [Wang Y et al. (2023) Nat Chem Biol 19, 1223–1234; Chandra B et al. (2022) Cancer Discov 12, 1152–1169]. Mutations in the histone acetylation “reader” eleven‐nineteen‐leukemia (ENL) have been shown to form discrete condensates at endogenous genomic targets, but it remains unclear how ENL mutations drive tumorigenesis and whether it is correlated with their condensate formation property. …”
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Solitary fibular metastasis from lung adenocarcinoma with gene mutation: a case report by Jiechen Chen, Ahmad Alkhatatbeh, Yinbing Lin, Xiaolin Lu, Bin Chen, Hongjiang Chen, Xiaohui Lu, Hansheng Wu, Jun Hu

“…Imaging revealed bony destruction of the right fibular head, and further investigations with chest CT, PET/C, pathologic biopsy and genetic testing identified a primary lung adenocarcinoma with EGFR exon 19 deletion mutation. The patient was treated with Osimertinib, resulting in significant tumor reduction. …”
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NOTIFICATION: The Role of Pathologists in Recognition of Morphologic and Biologic Features of Genetically Mutated Breast Cancer by The Breast Journal

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Characteristic craniofacial defects associated with a novel USP9X truncation mutation by Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro

“…Abstract Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. …”
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Combination of Hotspot Mutations With Methylation and Fragmentomic Profiles to Enhance Multi‐Cancer Early Detection by Thi Hue Hanh Nguyen, Giang Hoang Vu, Tu Thi Nguyen, Tuan Anh Nguyen, Vu Uyen Tran, Luyen Thi Vu, Giang Thi Huong Nguyen, Nhat Duy Nguyen, Trung Hieu Tran, Van Thien Chi Nguyen, Thanh Dat Nguyen, Trong Hieu Nguyen, Dac Ho Vo, Thi Tuong Vi Van, Thanh Thi Do, Minh Phong Le, Le Anh Khoa Huynh, Duy Sinh Nguyen, Hung Sang Tang, Hoai‐Nghia Nguyen, Minh‐Duy Phan, Hoa Giang, Lan N. Tu, Le Son Tran

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Temporal and Spatial Trends of Precipitation and Mutation in Guangdong Province over the Past 60 Years by XU Chengyi

“…Based on the Mann-Kendall test,linear regression analysis,and sliding t-test,this study analyzes the daily precipitation data from 32 meteorological stations in Guangdong Province from 1960 to 2019.The results show that except for Guangzhou and Zengcheng in the Pearl River Delta region,which exhibit a significant increasing trend in annual precipitation,there is no significant increasing trend in annual precipitation in other regions of Guangdong Province.The spatial distribution of average annual precipitation shows that the Pearl River Delta and its adjacent areas are the areas with the highest precipitation,which decreases gradually towards the surrounding areas.In the analysis of annual precipitation mutations,eight meteorological stations are found to have different numbers of mutation points in different years.Among these,only the Pearl River Delta region shows an increasing mutation in annual precipitation in 1972.The research results can provide a reference for the management of water resources and flood prevention strategies in Guangdong Province to cope with climate change.…”
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Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome by Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen

“…In patient 2, one heterozygous variant p.Glu117Lys and one novel heterozygous missense mutation p.Ser324Ala were identified. Finally, a novel missense mutation p.Arg802Leu and a novel nonsense mutation (c.2442C>G causing p.K792⁎) were identified in patient 3.…”
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Genomic and mutational analysis of Pseudomonas syringae pv. tagetis EB037 pathogenicity on sunflower by Jude E. Maul, John Lydon, Dilip Lakshman, Colin Willard, Hyesuk Kong, Daniel P. Roberts

“…The pTagA-like plasmid contained a complete Type IV secretion system (T4SS) with associated putative killer protein. Mutational analysis using transposon insertions within genes functioning in the T3SS and T4SS confirmed the role of both secretion systems and these plasmids in apical chlorosis. …”
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A case report of infantile fibrosarcoma with BRAF gene mutation with incomplete intestinal obstruction by Fan Zhu, Liang Fan, Guanhua Cui, Hai Jian, Hongjie Zhou, Jianfeng Xu, Fengshun Chen

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T cell receptors specific for an imatinib-induced mutation in BCR-ABL for adoptive T cell therapy by Meng-Tung Hsu, Gerald Willimsky, Gerald Willimsky, Gerald Willimsky, Leo Hansmann, Leo Hansmann, Leo Hansmann, Leo Hansmann, Thomas Blankenstein

“…Although TKIs are effective, drug resistance caused by the emergence of drug-selected secondary mutations in BCR-ABL remains a major problem for relapse, especially in patients with compound mutations. …”
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Mobility of social processes as a resource of society. Correlation of the concepts of pathology, deviation, mutations by S. I. Shlyapin

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Detection of exon2-MED12 mutations in uterine leiomyomas from Syrian patients by Lina Albitar, Eyad Al-Chatty, Fariz Ahmad

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Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations by Yuuki Arai, Akiko Maeda, Yasuhiko Hirami, Chie Ishigami, Shinji Kosugi, Michiko Mandai, Yasuo Kurimoto, Masayo Takahashi

“…EYS mutations are the most prevalent among Japanese patients with IRD.…”
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Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation by Olga Astapova, Anindita Biswas, Alessandra DiMauro, Jacob Moalem, Stephen R. Hammes

“…Von Hippel-Lindau (VHL) disease, caused by germline mutations in the VHL gene, is characterized by metachronously occurring tumors including pheochromocytoma, renal cell carcinoma (RCC), and hemangioblastoma. …”
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Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms by Sahar Yousaf, null Sumaira, Iqbal Bano, Atia Rehman, Samra Kousar, Muhammad Usman Ghani, Mariam Shahid

“…Genetic testing plays a crucial role in diagnosing cystic fibrosis, even when traditional tests are inconclusive. Specific mutations like Δ508 deletion and rs213950 guide personalized treatment. …”
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Bone Mineral Density in Postmenopausal Women Heterozygous for the C282Y HFE Mutation by Jenny E. Gunton, Frances Gates, Greg R. Fulcher, Phillip B. Clifton-Bligh

“…Mutations in the HFE gene may be associated with increased tissue iron stores reflected in an elevated serum ferritin. …”
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KRAS, p53 and BRAF Gene Mutations and Aneuploidy in Sporadic Colorectal Cancer Progression by Daniele Calistri, Claudia Rengucci, Ian Seymour, Elena Leonardi, Mauro Truini, Davide Malacarne, Patrizio Castagnola, Walter Giaretti

“…A similar correlation between gene mutations and DI values was observed for KRAS. The simultaneous presence of KRAS and p53 mutations was observed in only 11% of cases. …”
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Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy by Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang

“…Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related functions. …”
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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer by Kyong-Ah Yoon, Sang Myung Woo, Yun-Hee Kim, Sun-Young Kong, Sung-Sik Han, Sang-Jae Park, Woo Jin Lee

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