Bernard Pecqueur, Fabien Nadou, 2018, Dynamiques territoriales et mutations économiques – Transition, intermédiaire, innovation, L’Harmattan, Paris, 296 pages. by Fabienne Leloup

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Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract by Hui Dang, Min Peng, Weiyue Gu, Gang Ding, Yuqin Sun, Zhongkai Hao, Ning Wei, Xu Wang, Chenming Zhang, Aijun Deng

“…To investigate the clinical characteristics and pathogenic genetic mutations of a Chinese family with anterior segment mesenchymal dysgenesis and congenital posterior polar cataract. …”
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Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families by Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi

“…PIEZO1 gene sequencing revealed the presence of mutation p.E2496ELE, showing that this is one of the most frequent mutations in this disease. …”
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V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I by Kwo Wei David Ho, Nivedita U. Jerath

“…Although most of these mutations produce sensory loss, it is unclear which mutations would lead to the painful phenotype. …”
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Small cell conversion complicated with hypertrophic pulmonary osteoarthropathy after targeted therapy for advanced EGFR-mutated lung adenocarcinoma: A case report by Sijia Zhang, Leichong Chen, Kuikui Zhu, Rui Meng

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Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis by Ghazi Elamin, Ghazi Elamin, Zhichao Zhang, Depika Dwarka, Kabange Kasumbwe, John Mellem, Nompumelelo P. Mkhwanazi, Paradise Madlala, Paradise Madlala, Mahmoud E. S. Soliman

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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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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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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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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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