Determination of damaging SNP’s in SHANK3 gene with in silico methods by İrem Gülfem Albayrak, Şeyma Yektar, Süeda Kaya

“…The SHANK3 gene has a significant role in autism spectrum disorder; mutations in this gene are seen in roughly 1–2% of patients with both autism and intellectual disability. …”
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The Identification of Lynch Syndrome in British Columbia by Carol M Cremin, Linlea Armstrong, Sharlene Gill, David Huntsman, Chris Bajdik

“…OBJECTIVE: To determine the prevalence of Lynch syndrome mutations in a Canadian hereditary cancer clinic population, and to determine the effectiveness of the program’s referral criteria and testing algorithm.…”
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Low dose DNA methyltransferase inhibitors potentiate PARP inhibitors in homologous recombination repair deficient tumors by Romain Pacaud, Scott Thomas, Sibapriya Chaudhuri, Ann Lazar, Luika A. Timmerman, Pamela N. Munster

“…Abstract Background Poly (ADP-Ribose) polymerase inhibitors are approved for treatment of tumors with BRCA1/2 and other homologous recombination repair (HRR) mutations. However, clinical responses are often not durable and treatment may be detrimental in advanced cancer due to excessive toxicities. …”
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A Report on a Family with TMTC3-Related Syndrome and Review by Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane

“…A review of the literature on TMTC3-related syndrome and its causal mutations is provided.…”
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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

“…Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. …”
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Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes by D. Hettiarachchi, B. A. P. S. Pathirana, P. J. Kumarasiri, V. H. W. Dissanayake

“…The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X‐encoded gene ATRX. Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the ATRX gene: c.839C>T|p.Cys280Tyr and c.5369C>T|p.Ala1790Val. …”
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Germinal center dynamics during acute and chronic infection by Samantha Erwin, Stanca M. Ciupe

“…We predict that the T follicular helper cells are a limiting resource in driving large numbers of somatic hypermutations and present possible mechanisms that can revert this limitation in the presence of non-mutating and mutating antigen.…”
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Identification of neoantigens derived from alternative splicing and RNA modification by Jiyeon Park, Yeun-Jun Chung

“…The acquisition of somatic mutations is the most common event in cancer. Neoantigens expressed from genes with mutations acquired during carcinogenesis can be tumor-specific. …”
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Mutanome Engineered RNA Immunotherapy: Towards Patient-Centered Tumor Vaccination by Mathias Vormehr, Barbara Schrörs, Sebastian Boegel, Martin Löwer, Özlem Türeci, Ugur Sahin

“…Advances in nucleic acid sequencing technologies have revolutionized the field of genomics, allowing the efficient targeting of mutated neoantigens for personalized cancer vaccination. …”
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Decoding the Genetics of Recurrent Molar Pregnancy by Sumita Mehta, Sunita Bijarnia Mahay, Abhishek Satapathy, Kiran Arora

“…The risk of recurrence is seen to be associated with biallelic maternal mutations in NLRP7, KHDC3 L and PAD16 genes. Women with such mutations have a major risk of reproductive failure and normal pregnancy is seen in only 1.8%. …”
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Genetic Polymorphism in Peripartum Cardiomyopathy by Ivana Purnama Dewi, Johanes Nugroho

“…Many evidence supporting a contribution from gene mutations in PPCM includes genome-wide association studies, familial occurrence, variable prevalence among different regions and ethnicities, and more recent investigations of panels of genes for mutations among women with PPCM. …”
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Diffusion-driven self-assembly of emerin nanodomains at the nuclear envelope by Carlos D. Alas, Liying Wu, Fabien Pinaud, Christoph A. Haselwandter

“…The size and emerin occupancy of these nanodomains change with applied mechanical stress as well as under emerin mutations associated with Emery-Dreifuss muscular dystrophy (EDMD). …”
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Functional annotation of variants from healthy individuals by Jean Lee, Sung Eun Hong

“…The mutational signatures were consistent with previous studies. …”
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Toward the Development of the Trojan Female Technique in Pest Insects: Male‐Specific Influence of Mitochondrial Haplotype on Reproductive Output in the Seed Beetle Acanthoscelides... by Lea Vlajnić, Uroš Savković, Jelena Jović, Sanja Budečević, Biljana Stojković, Mirko Đorđević

“…The Trojan Female Technique, or TFT, is a method of the trans‐generational fertility‐based population control through the release of females that carry mitochondrial DNA mutations that negatively affect male, but not female, reproductive output. …”
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Characterization of Bozitinib as a potential therapeutic agent for MET-amplified gastric cancer by Hang Lin, Lingzhi Qu, Hudie Wei, Ming Guo, Xiaojuan Chen, Qianmeng Lin, Huajun Zhang, Shuyan Dai, Yongheng Chen

“…In addition, bozitinib efficiently inhibits c-Met resistance-conferring mutations G1163R and Y1230H, although its potency is significantly decreased against the D1228N and Y1230C mutations. …”
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TRα1 mutant suppresses KLF9 to cause endometrial metaplasia with ectopic IL-33 expression leading to uterine fibrosis and infertility by Elijah Edmondson, Takahito Kimura, Eunmi Hwang, Minjun Kim, Andrew Warner, Yuelin Zhu, Li Zhao, Yanlin Yu, Xuguang Zhu, Maria Hernandez, Noemi Kedei, Sheue-yann Cheng

“…Abstract Thyroid hormone receptors (TRs) mediate the genomic actions of thyroid hormone. Mutations of THRA gene cause a human disease known as resistance to thyroid hormone (RTHα). …”
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Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant by Patsy R Tomlinson, Rachel G Knox, Olga Perisic, Helen Su, Gemma V Brierley, Roger L Williams, Robert K Semple

“…Constitutional PIK3R1 mutations cause diseases with a genotype-phenotype relationship not yet fully explained: heterozygous loss-of-function mutations cause SHORT syndrome, featuring insulin resistance and short stature attributed to reduced p110α function, while heterozygous activating mutations cause immunodeficiency, attributed to p110δ activation and known as APDS2. …”
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Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder by Inna Shomer, Nofar Mor, Shaul Raviv, Noga Budick-Harmelin, Tanya Matchevich, Sharon Avkin-Nachum, Yoach Rais, Rebecca Haffner-Krausz, Ariela Haimovich, Aviv Ziv, Reut Fluss, Bruria Ben-Ze’ev, Gali Heimer, Denis N. Silachev, Vladimir L. Katanaev, Dan Dominissini

“…We show that reduction of mutated GNAO1 in vitro by knockout or by ASO has a beneficial functional outcome, which can be measured by cAMP accumulation and gene expression changes. …”
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TCA Cycle Defects and Cancer: When Metabolism Tunes Redox State by Simone Cardaci, Maria Rosa Ciriolo

“…Until recently, only recessive mutations were described which, although resulted in severe multisystem syndromes, did not predispose to cancer onset. …”
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Genetic bases of compact forms among cucurbit crops by A. V. Inozemtseva, A. G. Elatskova, E. K. Khlestkina, N. A. Shvachko

“…The genetic base of compactness has been an area of active research in recent years, with several genes and mutations identified to be associated with the appearance of dwarf phenotypes. …”
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