Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations by Mukesh Tanwar, Tanuj Dada, Rima Dada

“…This case was negative for PITX2 mutations and compound heterozygote for CYP1B1 mutations. …”
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Modulation of the high concentration viscosity of IgG1 antibodies using clinically validated Fc mutations by Joel Heisler, Daniel Kovner, Saeed Izadi, Jonathan Zarzar, Paul J. Carter

“…In contrast, the impact of Fc mutations on antibody viscosity has been minimally explored. …”
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Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation by Misty Ruppert, John Pyun, K. V. Chalam, David Sierpina

“…Autosomal dominant retinitis pigmentosa (adRP) is a rare cause of progressive visual impairment in young patients and is frequently a result of RHO gene mutations. p.Thr58Arg rhodopsin mutation leads to misfolding of rhodopsin, subsequent accumulation in the endoplasmic reticulum, and leads to consecutive atrophy of photoreceptor cells through apoptosis. …”
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A case of MonoMAC syndrome prototype of GATA2 mutation a multimodality and multispecialty diagnosis by Priyanka Moule, Sabina Langer, Deepika Gupta, Chetan Agarwal, Nitin Gupta, Jyoti Kotwal

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The Influence of Non-Hfe Genes and Steatohepatitis on Increased Iron Stores in Patients with the H63D Mutation by Neville Azzopardi

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PIK3CA and p53 Mutations by Next Generation Sequencing in Lymphoepithelioma-Like Carcinoma of the Endometrium by Lucie Bienfait, Nicky D’Haene, Xavier Catteau, Jean-Christophe Noël

“…Nevertheless, in endometrial lymphoepithelioma-like carcinoma, the alterations on cell cycle, apoptosis, and/or senescence secondary to p53 mutations could potentially be counterbalanced by the antitumoral response induced by CD8 cytotoxic T-lymphocytes numerous in these tumors.…”
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Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene by Agnieszka Murawska, Kamil Możdżeń, Grzegorz Horosin, Edward Pędziwiatr, Joanna Makowska, Jakub Pośpiech, Konrad Kaleta, Dorota Drożdż, Katarzyna Zachwieja

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De William Faulkner à James Hadley Chase : appropriation et mutation du genre policier by Christophe GELLY

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A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression by Li Zhang, Zhen-Xia Wan, Jin-Yi Zhu, Hui-Juan Liu, Jin Sun, Xiao-Hui Zou, Ting Zhang, Yan Li

“…It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. …”
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Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm by Kristi K. Fitzgerald, Abdul Majeed Bhat, Katrina Conard, James Hyland, Christian Pizarro

“…Family screening for the mutation revealed that his father, who has vascular and skeletal features of AOS, and his brother, who is asymptomatic, also have the pathogenic mutation. …”
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Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome by Alisa Brennan, Anil Kesavan

“…We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.…”
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Mutational Analysis of BRAFV600E by Polymerase Chain Reaction in Breast Cancer: A Narrative Review by Simran Khan, Arvind Bhake

“…The Polymerase Chain Reaction (PCR)-based methods for analysing BRAFV600E mutations in breast cancer, specifically Invasive Ductal Carcinoma (IDC), are the main topic of this narrative review. …”
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De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura by Ibrahim Alharbi, Sarah Alqarni, Wed Khayyat, Amirah Almatrafi

“…Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. Here, we describe a de novo genetic mutation of the ADAMTS13 gene and a rare complication of cTTP in a neonate. …”
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. …”
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Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study by Ankush Ganjewar, Ishwar B Bagoji, Sharan Badiger, Rudragouda B Bulagouda, Gurushnatappa Kadakol

“…All these mutations were observed in 3’ untranslated region and exhibited a benign phenotype. …”
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Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel by Seungkyu Choi, Jai Hyang Go, Eun Kyung Kim, Hojung Lee, Won Mi Lee, Chun-Sung Cho, Kyudong Han

“…Using the Ion Proton Comprehensive Cancer Panel, we sequenced 409 cancer-related genes to identify somatic mutations in five NKTCL tissue samples. The sequencing analysis detected 25 mutations in 21 genes. …”
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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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The Relationship Between LRP-5 and LRP-6 Gene Mutations and Postmenopausal Type 2 Diabetes and Obesity by Jun Li, Ya Li, Yunqiu Lu, Siyuan Li, Yecheng Zhu, Chuanbing Sun, Partab Rai, Xuehai Jia

“…Conclusion: Mutations at the LRP5-rs4988331 locus, as well as the LRP6-rs11054704 and rs1181334 loci, may be associated with the development of T2DM and OB in postmenopausal women.…”
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Multistrategy Harris Hawks Optimization Algorithm Using Chaotic Method, Cauchy Mutation, and Elite Individual Guidance by Lei Wen, Guopeng Wang, Longwang Yue, Xiaodan Liang, Hanning Chen

“…Second, the cosine function is used to better simulate the characteristics of the periodic change of the energy of the prey in the repeated contests with the group of hawks, to better balance the exploration and exploitation of the algorithm. Third, Cauchy mutation on the optimal individual in the exploration phase is performed, and the characteristics of the Cauchy distribution to enhance the diversity of the population are used, which can effectively prevent the algorithm from falling into the local optimum. …”
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Isolated renal glucosuria due to SLC5A2 gene mutation: a rare presentation by Priyanka Dua, Ashok Singh, Om P. Mishra

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