Mutation in the COL2A1 gene is associated with acetabular dysplasia by Miaomiao Xin, Xin Guan, Xin Guan, Jiangfei Yang, Yi Li, Zhentao Man, Hongsheng Sun, Min Fu

Subjects: Get full text

Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation by Lorena Rasquin, Janna Prater, Jane Mayrin, Corrado Minimo

“…Pheochromocytoma/paraganglioma is a rare tumor from neuroendocrine cells. 1/3rd of cases have germline mutations. Papillary thyroid carcinoma (PTC) is a common neoplasm from follicular cells of the thyroid. …”
Get full text

MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant by In-Pyo Baek, Yong-Bok Jeong, Seung-Hyun Jung, Yeun-Jun Chung

Subjects: Get full text

Fulminant Disseminated Intravascular Coagulation as Initial Presentation of BRAF-Mutated Melanoma by Jeremy Chuang, An Uche, Rohan Gupta, Kim Margolin, Phyllis Kim

“…In this case report, we discuss a 33-year-old woman with BRAF V600E-mutated metastatic melanoma who presented in fulminant DIC with concurrent hemorrhagic and thrombotic manifestations and discuss the patient’s brief response to combination therapy. …”
Get full text

Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy by Mohamad Paktinat, Kamran Hessami, Soroor Inaloo, Hamid Nemati, Pegah Katibeh, Marzieh Nejabat, Mohammad Hassan Darabi, Ali Hosseini Bereshneh

“…We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. …”
Get full text

Chromosomal Instability, Aneuploidy, and Gene Mutations in Human Sporadic Colorectal Adenomas by Beatriz Carvalho

Get full text

A Novel Mutation in the Adult-Onset Alexander’s Disease GFAP Gene by Dhillon B. Zaver, Nathan T. Douthit

Get full text

Viral mimicry evasion: a new role for oncogenic KRAS mutations by Raymond Chen, Aobo He, Daniel D. De Carvalho

“…In a recent study, Zhou and colleagues identify KRAS, a frequently mutated oncogene, as a negative regulator of dsRNA and viral mimicry in an ICI‐resistant colorectal cancer model. …”
Get full text

Ensemble learning-based predictor for driver synonymous mutation with sequence representation. by Chuanmei Bi, Yong Shi, Junfeng Xia, Zhen Liang, Zhiqiang Wu, Kai Xu, Na Cheng

“…Synonymous mutations, once considered neutral, are now understood to have significant implications for a variety of diseases, particularly cancer. …”
Get full text

How to survive the mutational meltdown: lessons from plant RNA viruses by Lafforgue, Guillaume, Lefebvre, Marie, Michon, Thierry, Elena, Santiago F.

“…Muller's ratchet refers to the irreversible accumulation of deleterious mutations in small populations, resulting in a decline in overall fitness. …”
Get full text

Effect of lethal yellow (AY) mutation and photoperiod alterations on mouse behavior by E. Y. Bazhenova, D. V. Fursenko, N. V. Khotskin, I. E. Sorokin, A. V. Kulikov

“…The lethal yellow (AY) mutation causes ectopic expression of agouti protein in the brain. …”
Get full text

Oncogenic RIT1 mutations confer ferroptosis vulnerability in lung adenocarcinoma by Ruilan Ma, Dian Yang, Peng Wang, Ziyi Zhang, Xuehong Zhang, Jialiang Song, Han Liu, Shuyan Liu, Yingqiu Zhang, Lijuan Zou

Subjects: Get full text

Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach by Swati Chaturvedi, Ashok K. Singh, Amit K. Keshari, Siddhartha Maity, Srimanta Sarkar, Sudipta Saha

“…To sum up the causal factors of almost all the MED-associated disorders, we decided to embark on a less traveled but nonetheless relevant direction, by focusing our attention on associated gene family products, regulation of their expression, genetic mutation, and mutation types. In addition, the review also outlines the clinical presentations as well as diagnostic and therapeutic approaches.…”
Get full text

Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy by Bronwyn Harris, Jean P. Pfotenhauer, Cheri A. Silverstein, Larry W. Markham, Kim Schafer, Vernat J. Exil, Charles C. Hong

Get full text

RNF43 Mutations in IPMN Cases: A Potential Prognostic Factor by Xiao Yan Chang, Yan Wu, Ying Jiang, Peng Yan Wang, Jie Chen

“…An intraductal papillary mucinous neoplasm (IPMN) is a common pancreatic precursor lesion, and it often harbors mutations in KRAS, GNAS, and RNF43. To clarify the molecular profiles of IPMNs, we conducted mutation analysis of KRAS, GNAS, and RNF43 in 61 IPMN formalin-fixed, paraffin-embedded (FFPE) specimens. …”
Get full text

The landscape of nucleotide diversity in Drosophila melanogaster is shaped by mutation rate variation by Barroso, Gustavo V, Dutheil, Julien Y

“…Here we present a new statistical method that jointly infers the genomic landscapes of genealogies, recombination rates and mutation rates. In doing so, our model captures the effects of genetic drift, linked selection and local mutation rates on patterns of genomic variation. …”
Get full text

De la vulnérabilité à la résilience : mutation ou bouleversement ? by Bruno Barroca, Maryline DiNardo, Irène Mboumoua

Get full text

GNQ-209P Mutation in Metastatic Uveal Melanoma and Treatment Outcome by Nagla Abdel Karim, Ihab Eldessouki, Ahmad Taftaf, Deeb Ayham, Ola Gaber, Abouelmagd Makramalla, Zelia M. Correa

“…We report a series of patients with metastatic UM with distinct mutational profiles. One had significant liver metastases with proven GNQ-209P mutation on tissue biopsy while peripheral blood molecular profiling did not show these mutations. …”
Get full text

Improvement of Aspergillus niger for Sodium Gluconate Synthesis by UV Mutation Method by Rajagopalan Prabu, Thomas Chand, Sunhare Raksha

“…The sodium gluconate synthesis pathway was improved in Aspergillus niger by random mutation method. A. niger was mutated with Ultraviolet (UV) radiation and the alteration of cell bound enzymes activity of gluconic acid synthesis pathway and sodium gluconate synthesis were evaluated. …”
Get full text

Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome by Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du

“…Patients with different FBN1 mutations often present more considerable phenotypic variation. …”
Get full text