PPIH is a novel diagnostic biomarker associated with immune infiltration in cholangiocarcinoma by Jun Ye, Zhitao Chen, Chuan Zhang, Rui Xie, Haini Chen, Peng Ren

“…Furthermore, PPIH expression showed a positive correlation with TP53 mutations. PPIH demonstrated strong diagnostic value for CHOL. …”
Get full text

Lack of GAGA protein in Trl mutants causes massive cell death in Drosophila spermatogenesis and oogenesis by N. V. Dorogova, A. E. Zubkova, E. V. Fedorova, E. U. Bolobolova, E. M. Baricheva

“…In the dying egg chambers, signs of apoptosis and autophagy were revealed, as well as morphological features that are characteristic of the wild type. In males, Trl mutations induce mass germ cell death through autophagy, which is not typical of Drosophila spermatogenesis, and has not been previously described, neither in the norm nor in other genes’ mutations. …”
Get full text

Molecular genetic basis of epidermolysis bullosa by Yu. Yu. Kotalevskaya, V. A. Stepanov

“…Epidermolysis bullosa (EB) is an inherited disorder of skin fragility, caused by mutations in a large number of genes associated with skin integrity and dermal-epidermal adhesion. …”
Get full text

CRISPR/Cas9, a universal tool for genomic engineering by A. V. Smirnov, A. M. Yunusova, V. A. Lukyanchikova, N. R. Battulin

“…A programmable nature of CRISPR/Cas9 facilitates the creation of transgenic organisms through sitespecific gene mutations, knock-ins or large chromosomal rearrangements (deletions, inversions and duplications). …”
Get full text

Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes by Mohamed Abdelghafar Hussein, Heba ElTaher, Ranim Mahmoud, Donia Sobh, Mohammad Al-Haggar

“…Results The results of our study revealed different genetic mutations among our patients, different CRIM status and also CMR abnormalities. …”
Get full text

Genes of Inflammation and Placental Function GWAS Associated with Idiopathic Recurrent Miscarriage in the Kazakh Population by Alexandra Murtazaliyeva, Gulnara Svyatova, Galina Berezina, Gulfairuz Urazbayeva, Aigerim Sadyrbekova

“…One of the causes of this pathology is the occurrence of mutations both in pleiotropic and pathway-specific regulators and in structural genes. …”
Get full text

Stan biologiczny populacji ludzkich a przemiany środowiska społeczno-ekonomicznego by Anna Siniarska, Napoleon Wolański

“…Variability originates from point mutations and chromosomal aberrations occurring during transmission of genetic material from generation to generation and through activation, or deactivation, of genes that alters their expression. …”
Get full text

Why PD-L1 expression varies between studies of lung cancer: results from a Bayesian meta-analysis by Preston Ngo, Wendy A. Cooper, Stephen Wade, Kwun M. Fong, Karen Canfell, Deme Karikios, Marianne Weber

“…PD-L1 expression was lower in EGFR-mutated NSCLC and higher in NSCLC with ALK, KRAS, MET, ROS1, and RET alterations. …”
Get full text

IMPLEMENTATION OF 454 LIFE SCIENCES TECHNOLOGY LABORATORY PRACTICES by N. G. Zinyakov, Ye. V. Ovchinnikova, S. P. Lazareva, A. A. Kozlov, I. A. Chvalas

“…Recombinations in infectious bronchitis genome were identified, structural and point mutations in fowl adenovirus genome were detect ed. …”
Get full text

Molecular Basis of Triple Negative Breast Cancer and Implications for Therapy by Parvin F. Peddi, Matthew J. Ellis, Cynthia Ma

“…Recent genomewide gene expression and DNA sequencing studies indicate that this cancer type is composed of a molecularly heterogeneous group of diseases that carry multiple somatic mutations and genomic structural changes. These findings have implications for therapeutic target identification and the design of future clinical trials for this aggressive group of breast cancer.…”
Get full text

Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report by N. Garancini, M. Ghezzi, A. Farolfi, V. Guaia, G. Canali, V. Fabiano, G.V. Zuccotti, E. D'Auria

“…Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Collateral Arteries (SPCAs) has been reported. …”
Get full text

Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome by Jessica Pugh, R. Keith Huffaker

“…There is often a delay in diagnosis in younger individuals with different genetic mutations noted upon diagnosis.…”
Get full text

Genomic Imprinting and Cancer: From Primordial Germ Cells to Somatic Cells by Adele Murrell

“…Cancer is a disease of aberrant cell growth and is characterised by genetic mutations and epigenetic changes such as DNA methylation. …”
Get full text

Cooccurrence of Darier’s Disease and Epilepsy: A Pediatric Case Report and Review of the Literature by Tamer Celik, Umit Celik, Cigdem Donmezer, Mustafa Komur, Orkun Tolunay, Pelin Demirtürk

“…Darier’s disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. …”
Get full text

Efficacy of PD-1 blockade plus chemotherapy in patients with oncogenic-driven non-small-cell lung cancer by Haowei Wang, Lei Cheng, Jian Chen, Peixin Chen, Zhuoran Tang, Qianyi Wang, Ying Ma, Chao Zhao, Xuefei Li, Tao Jiang, Fei Zhou, Xiaoxia Chen, Caicun Zhou

“…Results One hundred sixty-two patients received PD-1 blockade plus chemotherapy, 57 received PD-1 blockade monotherapy and 93 received chemotherapy alone were included. Oncogenic driver mutations including KRAS (31.4%), EGFR (28.8%), HER2 (14.7%), BRAF (10.6%), RET (7.4%), and other mutations (7.1%) were identified. …”
Get full text

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population by Mohamed H. Al‐Hamed, Alya Qari, Lamya Alrayes, Mohammed Alotaibi, Zainab Al Masseri, Afaf Alotaibi, Abdullah AlAshwal, Zuhair N. AlHassnan, Afaf Alsagheir

“…X‐linked inheritance is the most common cause of PAI and founder mutations likely contributed to a high diagnostic yield.…”
Get full text

Impact of gender on the prognosis of carotid body tumor after surgical resection by Huanrui Hu, Yuwei Xiang, Bin Huang, Ding Yuan, Yi Yang, Jichun Zhao

“…Males were more likely to develop succinate dehydrogenase B (SDHB) mutations (P = .019) and had worse relapse-free survival rates (P = .024). …”
Get full text

Negative heterosis for meiotic recombination rate in spermatocytes of the domestic chicken Gallus gallus by L. P. Malinovskaya, K. V. Tishakova, T. I. Bikchurina, A. Yu. Slobodchikova, N. Yu. Torgunakov, A. A. Torgasheva, Y. A. Tsepilov, N. A. Volkova, P. M. Borodin

“…However, it involves a massive generation of double-strand DNA breaks, erroneous repair of which may lead to germ cell death or various mutations and chromosome rearrangements. Thus, the benefits of recombination (generation of new allele combinations) would prevail over its costs (occurrence of deleterious mutations) as long as the population remains sufficiently heterogeneous. …”
Get full text

Molecular Detection and Genetic Characterization of Avian Leukosis Virus From Field Outbreaks in Bangladesh by Md. Golzar Hossain, Riman Pathan, SM Nazmul Hasan, Anandha Mozumder, Moslema Jahan Mou, Marjana Akter, Chandan Sikder, Riyan Al Islam Reshad, Roni Mia, Sukumar Saha, Tofazzal Islam, Sharmin Akter

“…The phylogenetic tree revealed close relatedness of the three identified strains to reference strains from India, USA, and China. Mutational analysis indicated several mutations throughout the envelope glycoprotein of the identified strains. …”
Get full text

Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study by Lisa Golmard, Ariane Berdal, François Côme Ferré, Michael Frank, Bruno Gogly, Adrien Naveau, Hafida Chérifi, Joseph Emmerich, Frédérick Gaultier, Xavier Jeunemaitre, Benjamin P J Fournier

“…Objective Vascular Ehlers–Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the COL3A1 gene, responsible of vascular, digestive and uterine accidents. …”
Get full text