Multiomics approach identifies dysregulated lipidomic and proteomic networks in Parkinson’s disease patients mutated in TMEM175 by Federica Carrillo, Marco Ghirimoldi, Giorgio Fortunato, Nicole Piera Palomba, Laura Ianiro, Veronica De Giorgis, Shahzaib Khoso, Tiziana Giloni, Sara Pietracupa, Nicola Modugno, Elettra Barberis, Marcello Manfredi, Teresa Esposito

“…Altogether, these data provide novel insights into the molecular and metabolic alterations underlying TMEM175 mutations and may be relevant for PD prediction, diagnosis and treatment.…”
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Changement climatique et atrophie des masses glaciaires : quelles mutations pour les paysages islandais ? by Marie Chenet, Erwan Roussel

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A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy by Abdelbaset Mohamed Elasbali, Farah Anjum, Osama A. AlKhamees, Waleed Abu Al-Soud, Mohd Adnan, Anas Shamsi, Md. Imtaiyaz Hassan

Subjects: “…deleterious mutations…”
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HELLP Syndrome and Cerebral Venous Sinus Thrombosis Associated with Factor V Leiden Mutation during Pregnancy by Zeynep Ozcan Dag, Yuksel Işik, Yavuz Simsek, Ozlem Banu Tulmac, Demet Demiray

“…Factor 5 leiden (FVL) is a procoagulant mutation associated primarily with venous thrombosis and pregnancy complications. …”
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Mutation Analysis of Synthetic DNA Barcodes in a Fission Yeast Gene Deletion Library by Sanger Sequencing by Minho Lee, Shin-Jung Choi, Sangjo Han, Miyoung Nam, Dongsup Kim, Dong-Uk Kim, Kwang-Lae Hoe

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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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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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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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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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