Loss of heterozygosity of CYP2D6 enhances the sensitivity of hepatocellular carcinomas to talazoparibResearch in context

Authors: Xiaonan Zhang, Natallia Rameika, Lei Zhong, Verónica Rendo, Margus Veanes, Snehangshu Kundu, Sandro Nuciforo, Jordan Dupuis, Muhammad Al Azhar, Ioanna Tsiara, Pauline Seeburger, Shahed Al Nassralla, Viktor Ljungström, Richard Svensson, Ivaylo Stoimenov, Per Artursson, Markus H. Heim, Daniel Globisch, Tobias Sjöblom

Source: EBioMedicine, Vol 109, Iss , Pp 105368- (2024)

Subject Terms: Loss of heterozygosity, Loss of function, Hepatocellular carcinomas, CYP2D6 and talazoparib, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396424004043; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/c93831231c574e67b595b2f52334f442

Validation of a targeted next-generation sequencing panel for pancreatic ductal adenocarcinomas

Authors: Marie-Lucie Racu, Andrea Alex Schiavo, Claude Van Campenhout, Nancy De Nève, Thomas Masuy, Calliope Maris, Christine Decaestecker, Myriam Remmelink, Isabelle Salmon, Nicky D'Haene

Source: Experimental and Molecular Pathology, Vol 139, Iss , Pp 104920- (2024)

Subject Terms: Pancreatic ductal adenocarcinoma (PDAC), Next-generation sequencing (NGS), Copy number alteration (CNA), Chromosome 18 loss of heterozygosity (LOH), Pathology, RB1-214

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S001448002400039X; https://doaj.org/toc/1096-0945

Access URL: https://doaj.org/article/60caf256d47f4ab1a2308a8d5e394c37

Molecular landscape of borderline ovarian tumours: A systematic review

Authors: Sadlecki Pawel, Walentowicz-Sadlecka Malgorzata

Source: Open Medicine, Vol 19, Iss 1, Pp 204-30 (2024)

Subject Terms: borderline ovarian tumours, molecular features, mutations, genetic mutations, braf, kras, nras, arid1a, cadm1, pik3ca, chek2, claudin-1, erbb2, loss of heterozygosity, pten, microsatellite instability, b-catenin, e-cadherin, brca 1, brca 2, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2391-5463

Access URL: https://doaj.org/article/61b5980ba5e544b385458d81e31cafd0

Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis

Authors: Jiayin Dong, Jing Ni, Jiahui Chen, Xuening Wang, Luxin Ye, Xia Xu, Wenwen Guo, Xiaoxiang Chen

Source: Journal of Ovarian Research, Vol 17, Iss 1, Pp 1-11 (2024)

Subject Terms: Ovarian cancer, Homologous recombination deficiency (HRD), Genomic loss of heterozygosity (gLOH), Comprehensive genomic profiling (CGP), Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: https://doaj.org/toc/1757-2215

Access URL: https://doaj.org/article/a9eeb241b2574d93a2709661d4fdb479

Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues

Authors: Xu Z, Liu N, Gao L, Yu D

Source: The Application of Clinical Genetics, Vol Volume 17, Pp 85-93 (2024)

Subject Terms: chromosomal microarray analysis, miscarriage, loss of heterozygosity, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.dovepress.com/application-of-chromosomal-microarray-analysis-in-genetic-reasons-of-m-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

Access URL: https://doaj.org/article/d70dc243f3a54044aca443883e631d12

HRD-negative high-grade carcinoma of the ovary in BRCA2 pathogenic variant carrier

Authors: A. P. Sokolenko, S. V. Poletaeva, A. D. Shestakova, T. V. Gorodnova, I. V. Berlev, E. N. Imyanitov

Source: Сибирский онкологический журнал, Vol 23, Iss 2, Pp 139-146 (2024)

Subject Terms: brca1 and brca2 mutations, loss of heterozygosity, brcaness, high-grade ovarian carcinoma, homologous recombination deficiency, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.siboncoj.ru/jour/article/view/3050; https://doaj.org/toc/1814-4861; https://doaj.org/toc/2312-3168

Access URL: https://doaj.org/article/1bd86b06748f4449b57fdf1f2994415c

Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis

Authors: DeBose-Scarlett, Evon ¹, Ressler, Andrew K. ¹, Gallione, Carol J. ¹, Sapisochin Cantis, Gonzalo ², Friday, Cassi ³, Weinsheimer, Shantel ⁴, Schimmel, Katharina ⁵, Spiekerkoetter, Edda ⁵, Kim, Helen ⁴, Gossage, James R. ⁶, Faughnan, Marie E. ^{7, 8}, Marchuk, Douglas A. ^{1, ∗}

Source: In The American Journal of Human Genetics 3 October 2024 111(10):2283-2298

Probing gene function in Candida albicans wild-type strains by Cas9-facilitated one-step integration of two dominant selection markers: a systematic analysis of recombination events at the target locus

Authors: Bernardo Ramírez-Zavala, Anna Hoffmann, Ines Krüger, Sonja Schwanfelder, Katherine S. Barker, P. David Rogers, Joachim Morschhäuser

Source: mSphere, Vol 9, Iss 7 (2024)

Subject Terms: Candida albicans, gene deletion, CRISPR-Cas9, loss of heterozygosity, homozygous mutants, Microbiology, QR1-502

File Description: electronic resource

Relation: https://doaj.org/toc/2379-5042

Access URL: https://doaj.org/article/e514b24a1a9d4199ac7bc328f8d87fb0

Familial isolated pituitary adenoma is independent of Ahr genotype in a novel mouse model of disease

Authors: Shen, Anna L. ^{a, ⁎}, Moran, Susan M. ^a, Glover, Edward N. ^a, Lin, Bernice C. ^{a, b}, Carney, Patrick R. ^{a, c}, Bradfield, Christopher A. ^a

Source: In Heliyon 15 April 2024 10(7)

Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia

Authors: Norliana Ghazali, Normastura Abd Rahman, Thirumulu Ponnuraj Kannan, Azlina Ahmad, Sarina Sulong

Source: BMC Oral Health, Vol 23, Iss 1, Pp 1-13 (2023)

Subject Terms: Cleft lip, Cleft palate, Tooth loss, Loss of heterozygosity, Oligonucleotide array sequence analysis, Microsatellite repeats, Dentistry, RK1-715

File Description: electronic resource

Relation: https://doaj.org/toc/1472-6831

Access URL: https://doaj.org/article/d00848ff469b406e8d8a7583c18f6260

Remarkably Long-Tract Gene Conversion Induced by Fragile Site Instability in Saccharomyces cerevisiae.

Authors: Chumki, Shahana A.¹, Dunn, Mikael K.¹, Coates, Thomas F.¹, Mishler, Jeanmarie D.¹, Younkin, Ellen M.¹, Casper, Anne M.¹, anne.casper@emich.edu

Source: Genetics; Sep2016, Vol. 204 Issue 1, p115-128, 21p

PARPs, PAR and NAD Metabolism and Their Inhibitors in Cancer

Contributors: Curtin, Nicola, Bay, Péter

Subject Terms: MDS, PARP inhibitors, olaparib, hematopoietic differentiation, PARP1, AML, poly-ADP-ribose polymerase 1 (PARP1), brahma-related gene 1 (BRG1), histone acetyltransferase p300 (EP300), gene transcription, cancer cell, head and neck squamous cell carcinoma, CAL27, SCC90, p60/p150 CAF-1 subunits, DNA repair, homologous recombination, biomarkers, personalized treatment, UVB, PARP, mitochondria, metabolism, biogenesis, autophagy, carcinogenesis, transcription, PARylation, DNA damage, transcription silencing, carryover effect, TOP1 activity, TDP1, irinotecan, immunomodulation, tumor microenvironment, trapping, cancer therapeutic strategy, arginine-specific mono-ADP-ribosylation, bacterial toxin, cholera toxin, ART1, ARH1, tumorigenesis, loss of heterozygosity, membrane repair, gender bias, Syk, EGFR, squamous cell carcinoma, PARP-Akt interplay, PI3K, mTOR, cytoprotection, apoptosis resistance, oxidative stress, mitochondrial protection, drug development, synthetic lethality, clinical trials, ADP-ribosylation, cancer, macrodomain, ADP-ribosyl hydrolase, ARTD, MACROD1, MACROD2, TARG1, ATM, ATR, PARP inhibitor, prostate cancer, pancreatic cancer, lung cancer, Tumor microenvironment, PARPs, hypoxia, CHK1, replication stress, homologous recombination DNA repair, cell cycle, cytotoxicity, PARP Inhibitors, beta-lapachone, NQO1, PARG, NAMPT, cancer therapeutics, cMET, poly (ADP-ribose) glycohydrolase, radiosensitization, poly (ADP-ribose) polymerase, ES cells, poly (ADP-ribose) polymerase inhibitors (PARPi), ataxia telangiectasia and Rad3 related inhibitors (ATRi), cell cycle checkpoints, NAD+, NMNAT1, cisplatin, chemotherapy, apoptosis, osteosarcoma, DNA damage response, immunotherapy, immune checkpoint inhibitor, PD-1, PD-L1, CTLA-4, combination therapy, solid tumors, the PARP inhibitor PJ34, distorted mitotic spindles, exclusive eradication of human cancer cells, nucleolus, poly(ADP-ribosyl)ation, ARTDs, Research and information: general, Biology, life sciences, Biochemistry

File Description: image/jpeg

Access URL: https://directory.doabooks.org/handle/20.500.12854/112469
https://mdpi.com/books/pdfview/book/7584

Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

Contributors: Condò, Ivano

Subject Terms: mucopolysaccharidosis II, Hunter syndrome, adeno-associated viruses, genetic therapy, gene editing, review, CDKL5 deficiency disorder, GSK-3β, HDAC6, dual inhibitor, neuronal survival, hippocampal defects, synapse development, TMEM16A, ADPKD, polycystic kidneys, androgen, estrogen, CFTR, ARPKD, cyst, rare monogenic disease, nephrology, alpha-galactosidase A, Fabry disease, pharmacological chaperones, rare diseases, enzyme replacement therapy, purine metabolism, purinergic signaling, Huntington’s disease, multiple endocrine neoplasia type 1 (MEN1), MEN1 gene, loss of heterozygosity (LOH), microRNA (miRNAs), miR-24, hemophilia, advanced therapies, gene therapy, FVIII transgene, FIX transgene, adeno-associated virus, lentiviral vectors, FXTAS, FXPOI, FXAND, premutation, blood, biomarker, FMR1, FMRP, endocrine, mitochondria, miRNA, transcription, GABA, telomere, factor V deficiency, parahemophilia, Owren’s disease, mutation analysis, Bartter syndrome, Gitelman syndrome, genetics, genetic diagnosis, therapeutic targets, hyponatremia, hypokalemia, hypercalciuria, hypomagnesemia, β-thalassemia, fetal hemoglobin, γ-globin, HbF induction, K562 cells, Cinchona alkaloids, cinchonidine, quinidine, cinchonine, combined treatments, Medicine and Nursing

File Description: image/jpeg

Access URL: https://directory.doabooks.org/handle/20.500.12854/100126
https://mdpi.com/books/pdfview/book/7220

Loss of heterozygosis on chromosome 18q21-23 and muscle-invasive bladder cancer natural history.

Authors: CAI, TOMMASO¹ ktommy@libero.it, MONDAINI, NICOLA², TISCIONE, DANIELE¹, DAL CANTO, MAURIZIO³, SANTI, RAFFAELLA⁴, BARTOLETTI, RICCARDO², NESI, GABRIELLA⁴

Source: Oncology Letters. Oct2015, Vol. 10 Issue 4, p2569-2573. 5p.

Subject Terms: *LOSS of heterozygosity, *TRANSITIONAL cell carcinoma, *BLADDER cancer, *MICROSATELLITE repeats, *CHROMOSOMES

Massive interstitial copy-neutral loss-ofheterozygosity as evidence for cancer being a disease of the DNA-damage response.

Authors: Yogesh Kumar¹, Jianfeng Yang¹, Taobo Hu¹, Lei Chen², Zhi Xu³, Lin Xu⁴, Xiao-Xia Hu⁵, Gusheng Tang⁵, Jian-Min Wang⁵, Yi Li⁶, Wai-Sang Poon⁶, Weiqing Wan⁷, Liwei Zhang⁷, Wai-Kin Mat¹, Pun, Frank W.¹, Peggy Lee¹, Cheong, Timothy H. Y.¹, Xiaofan Ding¹, Siu-Kin Ng¹, Shui-Ying Tsang¹

Source: BMC Medical Genomics. Jul2015, Vol. 8 Issue 1, p1-21. 21p.

Subject Terms: *LOSS of heterozygosity, *MOLECULAR genetics, *TUMOR suppressor genes, *GENETIC mutation, *CANCER cells, *DNA damage, *GENETICS

Multiplex ligation-dependent probe amplification validates LOH6q analyses and enhances insight into chromosome 6q aberrations in pediatric T-cell lymphoblastic leukemia and lymphoma.

Authors: Rohde, Marius¹ (AUTHOR), Bonn, Bettina R.² (AUTHOR), Zimmermann, Martin¹ (AUTHOR), Szczepanowski, Monika³ (AUTHOR), Damm-Welk, Christine¹ (AUTHOR), Stanulla, Martin⁴ (AUTHOR), Burkhardt, Birgit² (AUTHOR) birgit.burkhardt@ukmuenster.de

Source: Leukemia & Lymphoma. Jun2015, Vol. 56 Issue 6, p1884-1887. 4p.

Subject Terms: *GENE amplification, *LOSS of heterozygosity, *LYMPHOBLASTIC leukemia in children, *LEUKEMIA treatment

Genomic epidemiology of antifungal resistance in human and avian isolates of Candida albicans: a pilot study from the One Health perspective

Authors: Marianna Domán, Eszter Kaszab, Levente Laczkó, Krisztina Bali, László Makrai, Renátó Kovács, László Majoros, Krisztián Bányai

Source: Frontiers in Veterinary Science, Vol 11 (2024)

Subject Terms: yeast, aneuploidy, loss of heterozygosity, drug resistance, whole genome sequencing, Veterinary medicine, SF600-1100

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fvets.2024.1345877/full; https://doaj.org/toc/2297-1769

Access URL: https://doaj.org/article/14328fdc4ab946c5a775bbeb204281fd

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

Authors: Konomi Shimoda, Hiroyuki Iwasaki, Yoko Mizuno, Masafumi Seki, Masakazu Mimaki, Motohiro Kato, Aya Shinozaki-Ushiku, Harushi Mori, Seishi Ogawa, Masashi Mizuguchi

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: tuberous sclerosis complex, hemihypertrophy, limb overgrowth, somatic mutation, loss of heterozygosity, pharmacological treatment, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1333064/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/8d7720d34b264c62bb98f5358f6e3380

Evolution of loss of heterozygosity patterns in hybrid genomes of Candida yeast pathogens

Authors: Verónica Mixão, Juan Carlos Nunez-Rodriguez, Valentina del Olmo, Ewa Ksiezopolska, Ester Saus, Teun Boekhout, Attila Gacser, Toni Gabaldón

Source: BMC Biology, Vol 21, Iss 1, Pp 1-20 (2023)

Subject Terms: Candida orthopsilosis, Candida metapsilosis, Hybrids, Comparative genomics, Loss of heterozygosity, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7007

Access URL: https://doaj.org/article/2ad6a15677874c3d99697b7747cf5e03

Synchronous thyroid cancer and malignant struma ovarii: concordant mutations and microRNA profile, discordant loss of heterozygosity loci

Authors: Gabriella T. Seo, Jeremy Minkowitz, Danielle A. Kapustin, Jun Fan, Gerald Minkowitz, Miriam Minkowitz, Eric Dowling, Ammar Matloob, Divya Asti, Meekoo Dhar, Christopher Shutty, Alan Brickman, Mark L. Urken, Margaret Brandwein-Weber, Sydney D. Finkelstein

Source: Diagnostic Pathology, Vol 18, Iss 1, Pp 1-7 (2023)

Subject Terms: Malignant struma ovarii, Papillary thyroid cancer, Loss of heterozygosity, microRNA, Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/1746-1596

Access URL: https://doaj.org/article/e6542b5e3fcb4b85a75f935398d8b734