Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability by Baoqiong Liao, Baoqiong Liao, Wuming Xie, Shuwen He

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Establishment of a Breeding Approach Combined with Gamma Ray Irradiation and Tissue Regeneration for Highbush Blueberry by Xuan Yu, Haidi Yuan, Yihong Jin, Chuizheng Xia, Jiani Zhu, Jiali Che, Jiao Yang, Xiaofei Wang, Bingsong Zheng, Shufang Yang, Cristian Silvestri, Fuqiang Cui, Jianfang Zuo

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Identifying Allosteric Small-Molecule Binding Sites of Inactive NS2B-NS3 Proteases of Pathogenic <i>Flaviviridae</i> by Hovakim Grabski, Siranuysh Grabska, Ruben Abagyan

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CaGe: A Web-Based Cancer Gene Annotation System for Cancer Genomics by Young-Kyu Park, Tae-Wook Kang, Su-Jin Baek, Kwon-Il Kim, Seon-Young Kim, Doheon Lee, Yong Sung Kim

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Preliminary analysis of the role of small hepatitis B surface proteins mutations in the pathogenesis of occult hepatitis B infection via the endoplasmic reticulum stress-induced UPR-ERAD pathway by Huang Chengrong, Zhang Hao, Wang Jing, Li Jianfei, Liu Qian, Zong Qiyin, Zhang Yunyun, Wang Qin, Zhou Qiang

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Response to the Letter of B. Carvalho “Chromosomal Instability, Aneuploidy, and Gene Mutations in Human Sporadic Colorectal Adenomas” published in Cellular Oncology Vol. 27(4), 2005, p. 267 by W. Giaretti, D. Malacarne

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MRTX1133 attenuates KRASG12D mutated-colorectal cancer progression through activating ferroptosis activity via METTL14/LINC02159/FOXC2 axis by Junwei Zou, Xiuhua Shi, Zhaoying Wu, Siyuan Zuo, Xiaolei Tang, Hailang Zhou, Yong Huang

“…Studies have shown that CRC patients with KRAS mutations, especially KRASG12D, have an increased risk of metastasis. …”
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An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam by Phan Tuong Quynh Le, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, Minh Thao Nguyen, Thi Minh Thi Ha

“…By Sanger sequencing, we confirmed that the c.485A>C mutation was maternal inherited, whereas the c.680G>A mutation was paternal inherited. …”
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Effects of Human Alpha-Synuclein A53T-A30P Mutations on SVZ and Local Olfactory Bulb Cell Proliferation in a Transgenic Rat Model of Parkinson Disease by Faustine Lelan, Cécile Boyer, Reynald Thinard, Séverine Rémy, Claire Usal, Laurent Tesson, Ignacio Anegon, Isabelle Neveu, Philippe Damier, Philippe Naveilhan, Laurent Lescaudron

“…A transgenic Sprague Dawley rat bearing the A30P and A53T α-synuclein (α-syn) human mutations under the control of the tyrosine hydroxylase promoter was generated in order to get a better understanding of the role of the human α-syn mutations on the neuropathological events involved in the progression of the Parkinson’s disease (PD). …”
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Produire le logement social. Hausse de la construction, changements institutionnels et mutations de l’intervention publique en faveur des HLM (2004-2014) by Matthieu Gimat

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Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case report by Yuan Yu, Yuan Yu, Yuan Yu, Nan-Jing Li, Nan-Jing Li, Nan-Jing Li, Nan-Jing Li, Jin Wang, Jin Wang, Jin Wang, Jin Wang

“…Sequential gene tests showed kirsten rat sarcoma viral oncogene homolog (KRAS) G13D mutation and epidermal growth factor receptor (EGFR) 19ins. …”
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First detection of the S989P+V1016G+D1763Y haplotype and expansion of voltage-gated sodium channel mutations in Aedes aegypti in Taiwan in 2016-2023. by Han-Hsuan Chung, Hwa-Jen Teng, Chin-Gi Huang, I-Jung Tsai, Hung-Jui Chen, Osamu Komagata, Shinji Kasai, Kun-Hsien Tsai, Shiu-Ling Chen

“…Moreover, the unmutated haplotype vanished in Taiwan, suggesting that the vgsc mutations were fixed in local populations of Ae. aegypti. …”
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The Relevance of CD117-Immunocytochemistry Staining Patterns to Mutational Exon-11 in c-kit Detected by PCR from Fine-Needle Aspirated Canine Mast Cell Tumor Cells by A. Sailasuta, D. Ketpun, P. Piyaviriyakul, S. Theerawatanasirikul, P. Theewasutrakul, A. Rungsipipat

“…Therefore, the result has supported our hypothesis that there was an increased opportunity to observe a higher CD117-ICC staining pattern and exon-11 mutation in high-grade MCT; even these two parameters may not precisely indicate a histopathological grade.…”
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Early Diagnosis of Abnormal Left Ventricular Systolic Functions of Rare Pathogenic Titin Mutation Gene Carriers in FHCM by Three-Dimensional Speckle Tracking Echocardiography Combined with Gene Detection by Xiang-hong Luo, Rui Zhu, Qian Chen, Pei-hong Shi, Li-sha Na

“…The proband was tested with high-throughput sequencing of gene detection technology to detect the whole exome, and the mutation locus of pathogenic TTN gene was analyzed. …”
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Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis by Fiona Whitaker, Alvaro Serrano

“…We report a case of DYRK1A-related intellectual disability syndrome caused by a novel mutation.…”
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Defining the high-risk category of patients with cutaneous melanoma: a practical tool based on prognostic modeling by Oleksandr Dudin, Oleksandr Dudin, Ozar Mintser, Vitalii Gurianov, Nazarii Kobyliak, Nazarii Kobyliak, Denys Kozakov, Sofiia Livshun, Oksana Sulaieva, Oksana Sulaieva

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Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age by Dorota Roztoczyńska, Adrianna Kot-Marchewczyk, Anna Wędrychowicz, Artur Dobosz, Jerzy Starzyk

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The high cancer incidence in young people in Italy: do genetic signatures reveal their environmental causes? by Ruggero Ridolfi

Subjects: “…environmental; epigenomics; DNA mutational analysis…”
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Value of medical genetic consultation at digestive organs diseases by T. V. Filippova

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Treatment and Genotypic Characteristics of Patients with Rheumatoid Arthritis by Norbutoev Olimjon, Akhmedov Khalmurad, Abdurakhmanova Nargiza, Turaev Ikhtiyor

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