BRAF inhibitor monotherapy in BRAFV600E-mutated pediatric low-grade glioma: a single center’s experience by S. S. McThenia, S. S. McThenia, S. S. McThenia, K. M. Reddy, K. M. Reddy, E. Damaraju, E. Castellino, Z. He, R. Beer, F. Chien, F. Chien, F. Chien, R. C. Castellino, R. C. Castellino, R. C. Castellino, A. E. Goldman-Yassen, A. E. Goldman-Yassen, J. R. Fangusaro, J. R. Fangusaro, J. R. Fangusaro, T. MacDonald, T. MacDonald, T. MacDonald

Subjects: “…BRAFV600E-mutation…”
Get full text

A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report by Qiu-Mei Gu, Xue-Fei He, Wen-Zhe Xiao, Chao Qu

Get full text

Case report: Successful treatment with spesolimab of acrodermatitis continua of Hallopeau in an older patient without IL36RN mutations by Jianfeng Zheng, Yangfeng Ding, Yuling Shi, Xuemei Yi

Get full text

Identité enseignante et collège inclusif : quels remaniements face à un environnement de travail en mutation ? by Benoit Piroux

“…This political will, coupled with a social evolution towards postmodernism, induced a deep mutation concerning the role of high school teachers, who are nowadays situated between, one of the hand their institution, hardly understandable because of the masses of daily directives, and on the other hand, their more and more heterogeneous “daily users”. …”
Get full text

Lynch Syndrome—Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches by Tudor Razvan Grigorie, Gheorghe Potlog, Sorin Tiberiu Alexandrescu

“…Most guidelines recommend a tailored surveillance program, as well as personalized prophylactic and therapeutic approaches, according to the type of dMMR gene mutation. Carriers of path_MLH1 and path_MSH2 genes have a higher risk of developing colorectal cancer (CRC), despite intensive colonoscopic surveillance. …”
Get full text

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet–Biedl syndrome (BBS). …”
Get full text

Prognostic impact of depth of response and early tumour shrinkage in patients with -mutated metastatic colorectal cancer treated with targeted therapy by Guglielmo Vetere, Marco Maria Germani, Carlotta Antoniotti, Lisa Salvatore, Filippo Pietrantonio, Sara Lonardi, Maria Bensi, Filippo Ghelardi, Maria Alessandra Calegari, Rossana Intini, Alessandro Minelli, Francesco Giulio Sullo, Chiara Boccaccio, Ada Taravella, Alberto Puccini, Daniele Lavacchi, Laura Noto, Massimiliano Salati, Mario Scartozzi, Chiara Cremolini

“…Design: This is a retrospective real-world cohort study of BRAF V600E mutated mCRC patients treated with second-line EC ± B at 20 Italian centres. …”
Get full text

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation by Ana Isabel Sánchez, Jorge Armando Rojas

“…The disorder is inherited in an autosomal dominant manner caused by de novo mutations in the SMARCA2 gene, with most being missense mutations. …”
Get full text

TP53 Mutation Predicts Worse Survival and Earlier Local Progression in Patients with Hepatocellular Carcinoma Treated with Transarterial Embolization by Ken Zhao, Anita Karimi, Luke Kelly, Elena Petre, Brett Marinelli, Erica S. Alexander, Vlasios S. Sotirchos, Joseph P. Erinjeri, Anne Covey, Constantinos T. Sofocleous, James J. Harding, William Jarnagin, Carlie Sigel, Efsevia Vakiani, Etay Ziv, Hooman Yarmohammadi

“…The cumulative incidences of local progression at 6 and 12 months for TP53-mutant HCC were 65.4% and 84.6%, versus 40.8% and 55.1% for TP53 wild-type HCC (<i>p</i> = 0.0072). A TP53 mutation may predict a worse overall survival and a shorter time to local progression in HCC patients treated with TAE.…”
Get full text

Mutations in 23S rRNA gene associated with clarithromycin resistance in Helicobacter pylori clinical isolates from Saint-Petersburg by Starkova D.A., Gladyshev N.S., Polev D.E., Egorova S.A., Svarval A.V.

Subjects: Get full text

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa by Bo Gong, Bo Wei, Lulin Huang, Jilong Hao, Xiulan Li, Yin Yang, Yu Zhou, Fang Hao, Zhihua Cui, Dingding Zhang, Le Wang, Houbin Zhang

“…This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. …”
Get full text

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

Get full text

Application of a targeted amplicon sequencing panel to screen for insecticide resistance mutations in Anopheles darlingi populations from Brazil by Holly Acford-Palmer, Alice O. Andrade, Jody E. Phelan, Rosa A. Santana, Stefanie C. P. Lopes, Jansen F. Medeiros, Taane G. Clark, Maisa S. Araujo, Susana Campino

“…By screening 200 An. darlingi mosquitoes collected in Brazil, our amp-seq approach identified 10 point mutations leading to amino acid changes in ace-1 (V243I, N294H, S673N, S674N/T) and GSTe2 genes (I114V, D128E, T166I, T179I, and T205A). …”
Get full text

Leiden mutation (rs6025) in a severe COVID-19 pneumonia patient with Down syndrome: a clinical case by V.I. Pokhylko, Y.I. Cherniavska, L.Y. Fishchuk, Z.I. Rossokha, O.G. Ievseienkova, O.M. Dubitska, O.F. Popova, M.М. Fastovets, O.О. Kaliuzhka, N.G. Gorovenko

Subjects: Get full text

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. …”
Get full text

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.…”
Get full text

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. …”
Get full text

Le capitalisme à l’âge global : les mutations en cours transcendent-elles les spécificités nationales ? by Cynthia Ghorra-Gobin, Martine Azuelos

Get full text

Ewa Bogalska-Martin (dir.), Être noir au Brésil aujourd’hui. Identité et mémoires en mutation by Richard Marin

Get full text

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. …”
Get full text