Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption by Zhuoyuan Jiang, Ke Mao, Bingqing Wang, Hao Zhu, Jiqiang Liu, Ruirui Lang, Baichuan Xiao, Hailin Shan, Qi Chen, Ying Li, Shouqin Zhao, Qingguo Zhang, Huisheng Liu, Yong-Biao Zhang

“…Conclusions Our findings establish TCOF1 as the primary pathogenic gene in this Chinese TCS cohort, with mutations predominantly in the CRD and CTD, thereby expanding the known mutation spectrum of TCS and informing its prevention strategies.…”
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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

“…Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. …”
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Tumor mutational burden and survival on immune checkpoint inhibition in >8000 patients across 24 cancer types by Vivek Subbiah, Samuel J Klempner, Neeraj Agarwal, David P Carbone, Amit Mahipal, Shilpa Gupta, David Fabrizio, Jeffrey S Ross, Gerald Li, David R Gandara, Miles C Andrews, Jonathan W Riess, Ramez N Eskander, Ryon P Graf, Geoffrey R Oxnard, Sarah Sammons, Jeremy Snider, Lilia Bouzit, Cheryl Cho-Phan, Megan Price, Julia C F Quintanilha, Richard Sheng Poe Huang

“…Background There is uncertainty around clinical applicability of tumor mutational burden (TMB) across cancer types, in part because of inconsistency between TMB measurements from different platforms. …”
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Brief report: impact of consolidation durvalumab on unresectable non-small cell lung cancer with driver mutations by Jason C.S. Ho, K.M. Cheung

“…Among the 123 patients who underwent definitive chemoradiation, 33 had common driver mutations, including EGFR mutations, ALK rearrangements, ROS1 rearrangements, and RET fusions. …”
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Multiomic quantification of the KRAS mutation dosage improves the preoperative prediction of survival and recurrence in patients with pancreatic ductal adenocarcinoma by Won-Gun Yun, Daeun Kim, Youngmin Han, Wooil Kwon, Seong-Geun Lee, Jin-Young Jang, Daechan Park

“…Abstract Most cancer mutation profiling studies are laboratory-based and lack direct clinical application. …”
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ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 by Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi

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Loss of MEF2C function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice by Ali Yousefian-Jazi, Suhyun Kim, Jiyeon Chu, Seung-Hye Choi, Phuong Thi Thanh Nguyen, Uiyeol Park, Min-gyeong Kim, Hongik Hwang, Kyungeun Lee, Yeyun Kim, Seung Jae Hyeon, Hyewhon Rhim, Hannah L. Ryu, Grewo Lim, Thor D. Stein, Kayeong Lim, Hoon Ryu, Junghee Lee

“…However, the mechanism behind genetic mutations in the non-coding region of genes that affect epigenetic modifications remains unclear. …”
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Annotation-free deep learning for predicting gene mutations from whole slide images of acute myeloid leukemia by Bo-Han Wei, Xavier Cheng-Hong Tsai, Kuo-Jui Sun, Min-Yen Lo, Sheng-Yu Hung, Wen-Chien Chou, Hwei-Fang Tien, Hsin-An Hou, Chien-Yu Chen

“…We, therefore, propose a deep learning model based on multiple instance learning (MIL) with ensemble techniques to predict gene mutations from AML WSIs. Our model predicts NPM1 mutations and FLT3-ITD without requiring patch-level or cell-level annotations. …”
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Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

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Exploration of the molecular mechanism behind a novel natural genic male-sterile mutation of 1205A in Brassica napus by Lijing Xiao, Jinze Zhang, Shaomin Guo, Hairun Jin, Qingjing Ouyang, Xu Long, Zhongbin Yan, Entang Tian

“…Cytological investigations reveal that the mutation occurs at the early microspore stage, resulting in premature degradation of pollen. …”
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Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) by Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne

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Mutation analysis of SHP2, SOS1, and SOS2 related to dysregulation of Ras/MAPK pathway in Noonan syndrome by Nihayatul Karimah

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PIK3CA mutational status in tissue and plasma as a prognostic biomarker in HR+/HER2− breast cancer by Eduardo Terán, Rebeca Lozano, César A. Rodríguez, Mar Abad, Luis Figuero, José Antonio Muñoz, Belén Cigarral, Aline Rodrígues, Magdalena Sancho, M. Asunción Gómez, Daniel Morchón, Juan Carlos Montero, José María Sayagués, M. Dolores Ludeña, Emilio Fonseca

“…Our aim was to correlate tissue and plasma approaches and to analyze the prognostic impact of PIK3CA mutations (PIK3CAm) in HR+/HER2− BC. Methods A retrospective and unicentric analysis of PIK3CA mutational status in tissue and plasma samples by Cobas®PIK3CA Mutation Kit in patients with HR+/HER2− BC. …”
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Diploid aposporous sunflower forms triploid BIII progeny displaying increased apospory levels and non-random genetic mutations by Silvina Pessino, Graciela Nestares, Marta B. Bianchi, Iara Katzaroff, Lucía Amato, Marika Bocchini, Gianpiero Marconi, Emidio Albertini, Ana C. Ochogavía

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Exploring the role of ESR1 mutations in metastatic hormone receptor-positive breast cancer T cell immune surveillance disruption by Morgane Lopez, Laurie Spehner, Fabrice André, Julien Viot, Evan Seffar, Amélie Marguier, Elsa Curtit, Guillaume Meynard, Erion Dobi, Sylvain Ladoire, Romain Boidot, Romain Loyon, Valentin Derangere, François-Clément Bidard, Christophe Borg, Laura Mansi, Marie Kroemer

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The evolutionarily diverged single-stranded DNA-binding proteins SSB1/SSB2 differentially affect the replication, recombination and mutation of organellar genomes in Arabidopsis thaliana by Weidong Zhu, Jie Qian, Yingke Hou, Luke R. Tembrock, Liyun Nie, Yi-Feng Hsu, Yong Xiang, Yi Zou, Zhiqiang Wu

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Harlequin Ichthyosis: Case Series by Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc

Subjects: “…ABCA12 mutation…”
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SOCS2 inhibits the tumorigenesis of GISTs and increases the sensitivity of GISTs to imatinib by suppression of KIT activation by Liangying Zhang, Kun Xiao, Shaoting Zhang, Sien Zhao, Zimei Liu, Ming Wang, Kaiyue Qin, Yuanyuan Yu, Shujing Li, Lijun Ma, Jianmin Sun

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Diagnostic accuracy of high-resolution melting curve analysis for discrimination of oncology-associated mutations: a systematic review and meta-analysis by Shu Yu, Yan Cheng, Chen-Cheng Tang, Yue-Ping Liu

“…Objective To investigate the diagnostic value of high-resolution melting (HRM) analysis for oncology-associated epidermal growth factor receptor ( EGFR) gene mutations. Methods We systematically searched Embase, PubMed, and Web of Science for HRM and EGFR mutation detection studies published through September 2024. …”
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A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

Subjects: “…atypical splice mutation…”
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