A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice by Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa

“…We report a patient diagnosed with a COL4A1 mutation in the early postnatal period. Patients with early postnatal jaundice, intracranial lesions that are negative for TORCH syndrome, and recurrent hemolytic anemia should be suspected of having a COL4A1/COL4A2 gene mutation.…”
Get full text

Mutation Ant Colony Algorithm of Milk-Run Vehicle Routing Problem with Fastest Completion Time Based on Dynamic Optimization by Jianhua Ma, Guohua Sun

“…The milk-run vehicle routing problem (MRVRP) is widely used in milk-run distribution. The mutation ACO is given to solve MRVRP with fastest completion time in this paper. …”
Get full text

Hyperbaric Oxygen Therapy in Branch Retinal Artery Occlusion in a 15-Year-Old Boy with Methylenetetrahydrofolate Reductase Mutation by Ali Riza Cenk Celebi, Sibel Kadayifcilar, Bora Eldem

“…Laboratory evaluation disclosed hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) mutation. The visual acuity 0.05 at presentation improved to 0.8 after 20 days of HBO therapy. …”
Get full text

Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers by Renata Faermann, Eitan Friedman, Orit Kaidar-Person, Jonathan Weidenfeld, Malka Brodsky, Anat Shalmon, Osnat Halshtok Neiman, Michael Gotlieb, Yael Yagil, David Samoocha, Dana Madorsky Feldman, Miri Sklair-Levy

Get full text

Effects of D128N Mutation on OsSERK2 in Xa21-Mediated Immune Complex: An In Silico Study by Raghib Ishraq Alvy, M. H. M. Mubassir, Mohd Firdaus Abdul-Wahab, Salehhuddin Hamdan

“…This study focuses on the effect of a substitution mutation of aspartate128 with asparagine128 (D128N) in OsSERK2 on the interdependent binding pattern of the Xa21, RaxX21-sY, and OsSERK2 D128N proteins. …”
Get full text

Mutation analysis of SHP2, SOS1, and SOS2 related to dysregulation of Ras/MAPK pathway in Noonan syndrome by Nihayatul Karimah

Subjects: Get full text

Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer by Yen-Han Tseng, Trieu Thi My Tran, Jinghua Tsai Chang, Yu-Tang Huang, Anh Thuc Nguyen, Ian Yi‑Feng Chang, Yi-Tung Chen, Hao-Wen Hsieh, Yue-Li Juang, Peter Mu-Hsin Chang, Tzu-Yi Huang, Ying-Chih Chang, Yuh-Min Chen, Hsuan Liu, Chi-Ying F. Huang

“…Abstract TP53 mutations are recognized to correlate with a worse prognosis in individuals with non-small cell lung cancer (NSCLC). …”
Get full text

PIK3CA mutational status in tissue and plasma as a prognostic biomarker in HR+/HER2− breast cancer by Eduardo Terán, Rebeca Lozano, César A. Rodríguez, Mar Abad, Luis Figuero, José Antonio Muñoz, Belén Cigarral, Aline Rodrígues, Magdalena Sancho, M. Asunción Gómez, Daniel Morchón, Juan Carlos Montero, José María Sayagués, M. Dolores Ludeña, Emilio Fonseca

“…Our aim was to correlate tissue and plasma approaches and to analyze the prognostic impact of PIK3CA mutations (PIK3CAm) in HR+/HER2− BC. Methods A retrospective and unicentric analysis of PIK3CA mutational status in tissue and plasma samples by Cobas®PIK3CA Mutation Kit in patients with HR+/HER2− BC. …”
Get full text

Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases by Ibtihal Benhsaien, Fatima Ailal, Khadija Elazhary, Jalila El bakkouri, Abdallah Badou, Ahmed Aziz Bousfiha

“…The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.…”
Get full text

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A by Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen

“…Brugada syndrome is a hereditary cardiac disease associated with mutations in ion channel genes. The clinical features include ventricular fibrillation, syncope, and sudden cardiac death. …”
Get full text

Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring by Ming Yeh Lee, Anna L. Gloyn, David M. Maahs, Priya Prahalad

“…We present a case of NDM in a proband initially presenting with focal seizures and diabetic ketoacidosis due to a pathologic mutation in the beta cell potassium ATP channel gene KCNJ11 c.679G > A (p.E227K). …”
Get full text

Analysis of KRAS Mutations of Exon 2 Codons 12 and 13 by SNaPshot Analysis in Comparison to Common DNA Sequencing by Rica Zinsky, Servet Bölükbas, Holger Bartsch, Joachim Schirren, Annette Fisseler-Eckhoff

“…The more frequent mutation detection by the SNaPshot analysis shows that this method has a high probability of accuracy in the detection of KRAS mutations compared to sequencing.…”
Get full text

GENDER-SPECIFIC INFLUENCE OF Aу MUTATION ON PROGENY METABOLIC PHENOTYPE, FETAL GROWTH AND PLACENTAL GENE EXPRESSION IN MICE by E. N. Makarova, E. I. Denisova, V. V. Kozhevnikova, A. E. Kuleshova

Subjects: “…ау mutation…”
Get full text

Determination of mutagenicity of chemical compounds, physical factors and environmental pollutants by the Drosophila melanogaster wing somatic mutation and recombination test by L. P. Zakharenko, I. K. Zakharov

“…A somatic mutation and recombination test (SMART) on the wing cells of Drosophila melanogaster is described in this article in detail. …”
Get full text

Diploid aposporous sunflower forms triploid BIII progeny displaying increased apospory levels and non-random genetic mutations by Silvina Pessino, Graciela Nestares, Marta B. Bianchi, Iara Katzaroff, Lucía Amato, Marika Bocchini, Gianpiero Marconi, Emidio Albertini, Ana C. Ochogavía

Get full text

Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation by Nilüfer Göknar, Melda Ekici Avcı, Diana Üçkardeş, Emre Keleşoğlu, Kübra Tekkuş Ermiş, Cengiz Candan

“…Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. …”
Get full text

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects by Débora de Paula Michelatto, Leif Karlsson, Ana Letícia Gori Lusa, Camila D’Almeida Mgnani Silva, Linus Joakim Östberg, Bengt Persson, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Michela Barbaro, Maricilda Palandi de Mello, Svetlana Lajic

“…We present the functional and structural effects of seven novel (p.Leu12Met, p.Arg16Cys, p.Ser101Asn, p.Ser202Gly, p.Pro267Leu, p.Gln389_Ala391del, and p.Thr450Met) and two previously reported but not studied (p.Ser113Phe and p.Thr450Pro) CYP21A2 mutations. Functional analyses were complemented with in silico prediction of mutation pathogenicity based on the recently crystallized human CYP21A2 structure. …”
Get full text

Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer’s disease by Phoebe Valdes, Andrew B. Caldwell, Qing Liu, Michael Q. Fitzgerald, Srinivasan Ramachandran, Celeste M. Karch, Dominantly Inherited Alzheimer Network (DIAN), Douglas R. Galasko, Shauna H. Yuan, Steven L. Wagner, Shankar Subramaniam

“…PSEN1 mutations are more common and generally have an earlier AAO; however, certain PSEN1 mutations cause a later AAO, similar to those observed in PSEN2 and APP. …”
Get full text

A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2 by D. E. Ivanoshchuk, E. V. Shakhtshneider, A. K. Ovsyannikova, S. V. Mikhailova, O. D. Rymar, V. I. Oblaukhova, A. A. Yurchenko, M. I. Voevoda

“…Clinical manifestations of MODY are heterogeneous and may vary even among members of the same family, i. e., carriers of identical mutations. This phenotypic variation is due to the interaction of mutations with different genetic backgrounds and the influence of environmental factors (e. g., lifestyle). …”
Get full text

A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report by Xin Liu, Kaiqing Liu, Lifu Hu, Zixiao Liu, Xinhua Liu, Jiantao Wang

“…The diagnosis of this disease is mainly based on clinical features combined with the detection of pathogenic gene mutations, mainly mutations in the transforming growth factor-beta (TGF-β) signaling pathway. …”
Get full text