Typologie des chameliers et mutations des systèmes d’élevage camelins dans la région de Ouargla (Sud-Est Algérien) by Aïcha Abazi, Abdelhakim Senoussi

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Tousled-like kinase loss confers PARP inhibitor resistance in BRCA1-mutated cancers by impeding non-homologous end joining repair by Min-ah Kim, Banseok Kim, Jihyeon Jeon, Jonghyun Lee, Hyeji Jang, Minjae Baek, Sang-Uk Seo, Dongkwan Shin, Anindya Dutta, Kyung Yong Lee

“…Given that DSBs are highly cytotoxic, PARP inhibitors (PARPi), a prominent class of anticancer drugs, are designed to target tumors with HR deficiency (HRD), such as those harboring BRCA mutations. However, many tumor cells acquire resistance to PARPi, often by restoring HR in HRD cells through the inactivation of NHEJ. …”
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The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer – experience from a diagnostic centre in Turkey by Neslihan Duzkale, Onur Can Guler, Suat Kutun, Canan Emiroglu, Serdar Saridemir, Aysun Gokce, Olcay Kandemir, Tugba Taskın Turkmenoglu, Serap Yorubulut, Bahadır Kulah

“…Demographic and clinicopathological characteristics of the patients and correlations of pedigree analysis with BRCA1/2 mutation status were analysed. BRCA1/2 carriage was found to be 9.4%. …”
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INNA N. GOLUBOVSKAYA AS THE FOUNDER OF A UNIQUE COLLECTION OF MEIOTIC GENE MUTATIONS IN MAIZE AND A TALENTED RESEARCHER OF THE PROBLEM OF MEIOSIS GENETIC CONTROL by Yu. F. Bogdanov

“…She developed and maintained a seed collection of genetic maize lines bearing mutations of meiotic genes, and in 2012 brought it to the Vavilov Institute. …”
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Pharmacological effects of fibroblast growth factor 21 are sex-specific in mice with the <em>lethal yellow</em> (A^y) mutation by E. N. Makarova, T. V. Yakovleva, N. Yu. Balyibina, K. O. Baranov, E. I. Denisova, A. D. Dubinina, N. A. Feofanova, N. M. Bazhan

“…Hypothalamic melanocortin 4 receptors (MC4R) regulate energy balance. Mutations in the MC4R gene are the most common cause of monogenic obesity in humans. …”
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Venetoclax and Azacitidine Combination is an Effective Salvage Regimen for Fit Patients with IDH-2-mutated Acute Myeloid Leukemia Refractory to Conventional Induction Chemotherapy by Musa Fares Alzahrani

“…Acute myeloid leukemia (AML) constitutes a heterogeneous group of clonal myeloid neoplasms that is associated with a large number of recurrent genetic abnormalities. Mutations in IDH2 gene can be found in nearly 10% of newly diagnosed AML patients. …”
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Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma by Giuseppina De Filpo, Elisa Contini, Viola Serio, Andrea Valeri, Massimiliano Chetta, Daniele Guasti, Daniele Bani, Massimo Mannelli, Elena Rapizzi, Michaela Luconi, Mario Maggi, Tonino Ercolino, Letizia Canu

“…Nowadays, we know that more than 40% of patients have a germline mutation in one of the susceptibility genes identified to date. …”
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Predictive Value of Initial 18F-FDG PET/CT for Identifying EGFR and KRAS Mutations in Patients with Non-small-cell Lung Cancer by Ozge Vural Topuz, Nur Buyukpinarbasili

“…Groups were based on gene mutation status as follows: EGFR-mutations (mt) vs. …”
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Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions by Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano

“…This report presents a novel NOTCH3 c.1564 T > A (p.Cys522Ser) mutation associated with early-onset parkinsonism and significant white matter lesions. …”
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Complications of Mesenteric Vein Thrombosis: Heterozygous Factor V Leiden Mutation Leads to Pulmonary Embolism in a Patient With Post–Bowel Resection Surgery by Hafiz Muhammad Hamza, Muhammad Muiz Malik, Ayaz Ahmed Awan, Muhammad Daoud Tariq, Mohamed Daoud, Aman Goyal

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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family by Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

“…Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 ∗)) in the NECTIN4 gene. …”
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Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient by Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain

“…Nevertheless, an increasing number of naturally occurring mutations have been found. The change p.H62L is one of the most frequent rare mutations of the CYP21A2 gene. …”
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Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families by Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang

“…Intrafamilial cosegregation of the mutations with the hearing phenotype was confirmed in both families by the Sanger sequencing. …”
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Ovarian juvenile granulosa cell tumor accompanying Oliver's disease with IDH1 gene somatic mutation: A case study and literature review by Zeyuan Yu, Fang Wang, Li Li, Xiaofang Zhang

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A singularly perturbed HIV model with treatment and antigenic variation by Nara Bobko, Jorge P. Zubelli

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Non-small Cell Lung Cancer Cell Line PC-9 Drug-resistant Mutant Cell Line 
Establishment and Validation of Their Sensitivity to EGFR Inhibitors by Tao HU, Yang LOU, Mingbo SU

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IDH-mutant gliomas in children and adolescents - from biology to clinical trials by Louise Evans, Sarah Trinder, Sarah Trinder, Andrew Dodgshun, Andrew Dodgshun, David D. Eisenstat, David D. Eisenstat, David D. Eisenstat, James R. Whittle, James R. Whittle, James R. Whittle, Jordan R. Hansford, Jordan R. Hansford, Jordan R. Hansford, Santosh Valvi, Santosh Valvi, Santosh Valvi

Subjects: “…IDH mutation…”
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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

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Inverse Kinematics Solution of Redundant Manipulator based on Improved Particle Swarm Optimization Algorithm by Jianping Shi, Peng Liu, Dongyun Chen

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Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study by Huifeng Fan, Zhiyong Yang, Yuhui Wu, Xiulan Lu, Tian Li, Xuyang Lu, Gen Lu, Liming He, Guoping Lu, Li Huang

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