Clinical management of bleeding manifestations in a family with the thrombomodulin C1611>A (p.Cys537Stop) mutation by Serge Pierre-Louis, Johalene Rabout, Octavio Labrada, Fatima Radouani, Emeline Chonville, Beatrice Ferrey, Olivier Pierre-Louis, Yesim Dargaud

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Helicobacter pylori Mutations Conferring Resistance to Fluoroquinolones and Clarithromycin among Dyspeptic Patients Attending a Tertiary Hospital, Tanzania by Hyasinta Jaka, Nele Rüttgerodt, Wolfgang Bohne, Andreas Mueller, Uwe Gross, Christa Kasang, Stephen E. Mshana

“…The most frequently detected mutation was A2143G (30) followed by A2142G (20). Out of 131 nonrepetitive biopsies tested for fluoroquinolones resistance mutations, 77/131 (58.8%) were positive, with N87I (20) mutation being the most frequently detected mutation followed by A92T mutation which was detected in 16 samples. …”
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Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene by Jun Muratsu, Atsuyuki Morishima, Kazuhiro Mizoguchi, Keiji Ataka, Hiroshi Yamamoto, Xinping Fan, Toshiyuki Miyata, Katsuhiko Sakaguchi

“…Her father and younger brother also carried this mutation, although they had no evidence of thrombosis.…”
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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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Exploratory analysis of a Novel RACK1 mutation and its potential role in epileptic seizures via Microglia activation by Sai Zhang, Zhaofei Dong, Jing Guo, Ze Li, Hong Wu, Linming Zhang, Fuli Min, Tao Zeng

“…In this study, we identified the key gene RACK1 and its novel mutation RACK1-p.L206P as being associated with seizures through single-cell transcriptome sequencing (scRNA-seq) and whole exome sequencing (WES) techniques. …”
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GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome by Laetitia Largeaud, Vincent Fregona, Laura A. Jamrog, Camille Hamelle, Stéphanie Dufrechou, Naïs Prade, Esmaa Sellam, Pauline Enfedaque, Manon Bayet, Sylvie Hébrard, Mathieu Bouttier, Christine Didier, Bastien Gerby, Eric Delabesse, Marlène Pasquet, Cyril Broccardo

“…To elucidate how these mutations affect hematopoietic homeostasis, we created a knock-in mouse model expressing the recurrent Gata2 R396Q missense mutation. …”
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Effects of Activating Mutations on EGFR Cellular Protein Turnover and Amino Acid Recycling Determined Using SILAC Mass Spectrometry by Michael J. Greig, Sherry Niessen, Scott L. Weinrich, Jun Li Feng, Manli Shi, Ted O. Johnson

“…Rapid mutations of proteins that are targeted in cancer therapy often lead to drug resistance. …”
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Restrictive Dermopathy Due to ZMPSTE24 Mutation: A Case Report with a Novel Finding of Corpus Callosum Agenesis by Minu Jose Chiramel, Dharshini Sathishkumar, Sridhar Santhanam, Nithya J Ponmudi, Ramesh Babu Telugu, Sony Mohan, Rekha Athiyarath

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Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands by Catarina Falcão de Campos, Miguel Oliveira Santos, Rafael Roque, Isabel Conceição, Mamede de Carvalho

“…Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). …”
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A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase by Swati Valmiki, Cindy Bredefeld, M. Mahmood Hussain

“…She also has a novel missense MTP mutation, Ile344Asn. We show that this mutation abrogates lipid transfer activity in MTP and does not support apolipoprotein B secretion. …”
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Efflux Pump Activity and Mutations Driving Multidrug Resistance in Acinetobacter baumannii at a Tertiary Hospital in Pretoria, South Africa by Noel-David Nogbou, Granny M. Nkawane, Khanyisa Ntshane, Charles K. Wairuri, Dikwata T. Phofa, Kagiso K. Mokgokong, Mbudzeni Ramashia, Maphoshane Nchabeleng, Lawrence C. Obi, Andrew M. Musyoki

“…The study detected parC gene mutation in 60% and gyrA gene mutation in 85%, while 37% of isolates had mutations on both genes. …”
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A Unique Trinucleotide-Bloc Mutation-Based Two SARS-CoV-2 Genotypes with Potential Pathogenic Impacts by Mustak Ibn Ayub

“…SARS-CoV-2, the novel coronavirus behind the COVID-19 pandemic, is acquiring new mutations in its genome. Although some mutations provide benefits to the virus against human immune response, others may result in their reduced pathogenicity and virulence. …”
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Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening by Mohammad Reza Mahdavi, Hosein Karami, Mohammad Taghi Akbari, Hosein Jalali, Payam Roshan

“…After several molecular examinations, a rare mutation [+22 5UTR (G>A)] in compound heterozygote state along with a common mutation [codon 8 (-AA)] was found. …”
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Erratum to “Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness” by Nikki Rink, Martin Bitzan, Gus O'Gorman, Mato Nagel, Elena Torban, Paul Goodyer

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Complete remission in an advanced hepatocellular carcinoma patient with AXIN1 mutation after systemic therapy: A case report by Yihong Ran, Xiaozhun Huang, Xu Che, Dong Chen

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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome by Sujie Xiong, Guangyao Hu, Yao Zhou, Fei Sun, Yanlin Ma

“…The mutation c.7720G > A, which is a missense mutation, has yet to be reported. …”
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TERTp Mutation and its Prognostic Value in Glioma Patients Under the 2021 WHO Classification: A Real‐World Study by Hao Xing, Delin Liu, Junlin Li, Yulu Ge, Xiaopeng Guo, Wenlin Chen, Dachun Zhao, Yixin Shi, Yilin Li, Yaning Wang, Yuekun Wang, Yu Xia, Jiaming Wu, Tingyu Liang, Hai Wang, Qianshu Liu, Shanmu Jin, Tian Qu, Siying Guo, Huanzhang Li, Tianrui Yang, Kun Zhang, Yu Wang, Wenbin Ma

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A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib by Lai S, Lin C, Guo Z, Lai Y, Xie L, Wan C, Yang T, Li L

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Genetic Detection of Quinolone Resistance in Haemophilus parainfluenzae: Mutations in the Quinolone Resistance-Determining Regions of gyrA and parC by Dennis KS Law, Michelle Shuel, Sadjia Bekal, Elizabeth Bryce, Raymond SW Tsang

“…Similar to Haemophilus influenzae, resistance to quinolones in H parainfluenzae is associated with mutations in the quinolone resistance-determining regions of both gyrA and parC. …”
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Fibroblast growth factor receptor 3 mutation promotes HSPB6-mediated cuproptosis in hypochondroplasia by impairing chondrocyte autophagy by Jing Chen, Dan He, Chengrun Yuan, Na Li, Baohong Shi, Conway Niu, Jiangfei Yang, Liangkai Zheng, Lin Che, Ren Xu

“…Background: Hypochondroplasia (HCH) is a prevalent form of dwarfism linked to mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, causing missense alterations. …”
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