A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case by Jose G. Acuña-Ochoa, Norma A. Balderrábano-Saucedo, Ana C. Cepeda-Nieto, Maria Y. Alvarado-Cervantes, Vianca L. Ibarra-Garcia, Daniel Barr, Matthew J. Gage, Ryan Pfeiffer, Dan Hu, Hector Barajas-Martinez

“…Further pedigree analysis revealed the father of the index case to carry with the TTN mutation. Surprisingly, the ACTC1 mutation was not harbored by any first-degree family member. …”
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Asymptomatic hyperCKemia in old age as a presentation form of a mutation in the ANO5 gene, 8 years of follow-up by R. Cuenca Hernández, C. González-González, G. Liaño Esteso, A. Esquivel López

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Epigenomic exploration of disease status of EGFR‐mutated non‐small cell lung cancer using plasma cell‐free DNA hydroxymethylomes by Yong Peng, Jason Karpus, Jyoti D. Patel, Everett E. Vokes, Marina Chiara Garassino, Kirsteen Lugtu, Zhou Zhang, Wei Zhang, Mengjie Chen, Chuan He, Christine M. Bestvina

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La gestion d’un lagon en mutation : acteurs, enjeux et recherche-action en Nouvelle-Calédonie (Pacifique sud) by Marc Léopold, Jean-Michel Sourisseau, Nathaniel Cornuet, Carine David, Arnaud Bonmarchand, Pierre-Yves Le Meur, Laetitia Lasseigne, Estelle Poncet, Marie Toussaint, Guy Fontenelle, Jean-Eudes Beuret, Nicolas Guillemot

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Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia by Yasuyuki Fujii, Iichiro Okabe, Ayano Hatori, Shyam Kishor Sah, Jitendra Kanaujiya, Melanie Fisher, Rachael Norris, Mark Terasaki, Ernst J. Reichenberger, I-Ping Chen

“…Moreover, the Cx43R239Q mutation results in altered spatial expression of Cx43 protein and mild reduction of gap junction and hemichannel activity. …”
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Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes by Hector Barajas-Martinez, Maya Smith, Dan Hu, Robert J. Goodrow, Colleen Puleo, Can Hasdemir, Charles Antzelevitch, Ryan Pfeiffer, Jacqueline A. Treat, Jonathan M. Cordeiro

“…The proband inherited the 3 mutations and exhibited palpitations and arrhythmia-mediated syncope, whereas the parents and sister, who carried one or two of the mutations, were asymptomatic. …”
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Prognostic model and immune-infiltrating cell landscape based on differentially expressed autophagy-related genes in TP53-mutated multiple myeloma by Yan-Hua Zheng, Hong-Yuan Shen, Xiang Chen, Juan Feng, Guang-Xun Gao

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Prevalence of Site-Specific Mycoplasma genitalium Infection and Macrolide and Fluoroquinolone-Associated Mutations in Men Who Have Sex with Men in Shenzhen, China by Leng X, Zhu R, Ao X, Zhou Y, Zhang K, Hu T, Wu J, Chen Z, Huang L, Huang N, Li X, Ahmed Alnour R, Xue Z, Zhang X, Liu H, Axirejiang T, Ke W, Zou H

“…Of the 27 MG-positive specimens, 22.2% (2/9) exhibited mutations at position A2071G, with A2071T being the predominant mutation in the 23S rRNA gene, accounting for 77.8% (7/9) of cases. …”
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Enhanced multistress tolerance of Saccharomyces cerevisiae with the sugar transporter-like protein Stl1F427L mutation in the presence of glycerol by Zixiong Liu, Lingling Shangguan, Linglong Xu, Huiyan Zhang, Wenxin Wang, Qiao Yang, Xiaoling Zhang, Lan Yao, Shihui Yang, Xiong Chen, Jun Dai

Subjects: “…sugar transporter-like protein mutation…”
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Primary mucoepidermoid carcinoma of the thyroid with concomitant MAML2 gene rearrangement and BRAF V600E mutation – A case report by Frederica Loghides, Brigid Aherne

“…To our knowledge, our case represents the fourth documented case of metastatic TMEC to bone as well as the first reported case of TMEC with concomitant MAML2 gene rearrangement and BRAF V600E mutation.…”
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Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene by Guy Massa, Philippe Gillis, Marianne Schwartz

“…Genetic analysis revealed 2 rare mutations of the CYP21A2 gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and a R339H mutation in exon 8, both reported in the nonclassic CAH. …”
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Virulence-associated variants in Cryptococcus neoformans sequence type 93 are less likely to be associated with population structure compared to independent rare mutations by Katrina M. Jackson, Kisakye Diana Kabbale, Marissa Macchietto, David Meya, Peter Tiffin, Kirsten Nielsen

“…The mutations may instead occur independently during infection. …”
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Plasmodium falciparum transcription factor AP2-06B is mutated at high frequency in Southeast Asia but does not associate with drug resistance by Qiyang Shi, Changhong Wang, Wenluan Yang, Xiaoqin Ma, Jianxia Tang, Jiayao Zhang, Guoding Zhu, Yinlong Wang, Yaobao Liu, Xiaoqin He

“…The AP2-06B K3124R mutation was also found in the artemisinin-resistant parasite strain CWX and the chloroquine-resistant strains Dd2 and 7G8. …”
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From Nonfunctioning Adrenocortical Cancer to Biochemically Silent Paraganglioma Associated with SDHB Mutation: An Uncommon Presentation of a Patient with a Retroperitoneal Mass by Izabella Freitas, Anna Albuquerque, Luiz de Marco, null Eduardo, José Renan Melo, Juliana Drummond, Beatriz Rocha

“…Forty percent of the patients with PHEO/PGL have an underlying germline mutation. SDHB mutation is frequently associated with metastatic disease and dominant secretion of noradrenaline and/or dopamine. …”
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Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family by Yannick Beauséjour, Fernando Alvarez, Martin Beaulieu, Marc Bilodeau

“…Sequencing of the ABCB11 gene revealed two previously unreported mutations that predict the absence of expression of the protein. …”
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Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome by T. M. Morgan, J. M. Colazo, L. Duncan, R. Hamid, K. M. Joos

“…Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). …”
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The modulating effect of coat color mutations on the generation and neutralization of reactive oxygen species in the Аmerican mink (Neovison vison) as a model by S. N. Sergina, V. A. Ilyukha, I. V. Baishnikova, T. N. Ilyina

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Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family by Shahida Awais, Lubna Siddique, Nida Shafi, Sobia Humerah, Summyah Niazi, Wafa Omer

“…Genetic analysis revealed a missense mutation in RAG2 genes in female SCID patient.      …”
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Mutated p53 Promotes the Symmetric Self-Renewal of Cisplatin-Resistant Lung Cancer Stem-Like Cells and Inhibits the Recruitment of Macrophages by Yu Xu, Zhi Xu, Qi Li, Liang Guo, Yao Wang, Jianchun Zhou, Guansong Wang, Yuliang Liu

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Enhanced fetal hemoglobin production via dual-beneficial mutation editing of the HBG promoter in hematopoietic stem and progenitor cells for β-hemoglobinopathies by Prathibha Babu Chandraprabha, Manoj Kumar K. Azhagiri, Vigneshwaran Venkatesan, Wendy Magis, Kirti Prasad, Sevanthy Suresh, Aswin Anand Pai, Srujan Marepally, Alok Srivastava, Kumarasamypet Murugesan Mohankumar, David I. K. Martin, Saravanabhavan Thangavel

“…Results Asymmetric, nontarget ssODN induced high rates of complete HDR conversions, with at least 15% of HSPCs exhibiting both the −175T > C and −158 C > T mutations. Optimized conditions and treatment with the small molecule AZD-7648 increased this rate, with up to 57% of long-term engrafting human HSPCs in NBSGW mice containing at least one beneficial mutation. …”
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