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41
DeepDrug as an expert guided and AI driven drug repurposing methodology for selecting the lead combination of drugs for Alzheimer’s disease
Published 2025-01-01Subjects: Get full text
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42
The piRNA protein Asz1 is essential for germ cell and gonad development in zebrafish and exhibits differential necessities in distinct types of germ granules.
Published 2025-01-01“…However, the regulation of RNP assemblies in zebrafish germline development are still poorly understood. Asz1 is a piRNA protein in Drosophila and mice. …”
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43
Diversification and recurrent adaptation of the synaptonemal complex in Drosophila.
Published 2025-01-01“…Surprisingly, the expression of SC genes in the germline is prone to change suggesting recurrent regulatory evolution which, in many species, resulted in high testes expression even though Drosophila males are achiasmic. …”
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44
Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors
Published 2020-01-01“…Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. …”
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45
Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome
Published 2024-09-01“…Abstract Loss-of-function germline variants of MLH1 cause Lynch syndrome. Here, we present the case of a 43-year-old male patient diagnosed with cecal and transverse colon adenocarcinomas. …”
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46
Understanding cancer predisposition in Singapore: what’s next
Published 2023-01-01“…These include the potential for finding unexpected germline variants through somatic tumour testing, optimal risk management of patients with hereditary conditions involving moderate-penetrance genes, role of polygenic risk score in an under-represented Asian population, management of variants of uncertain significance, clinical trials in patients with germline pathogenic variants and technology in genetic counselling. …”
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ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report
Published 2020-01-01“…Familial clustering suggests a genetic cause that has been confirmed with the identification of some genetic mutations, including inactivating germline mutations, in armadillo repeat containing 5 (ARMC5) gene. …”
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It Is All in the Genes: A Story of Unexpected Survival in a 67-Year-Old Male with Metastatic Pancreatic Cancer
Published 2023-01-01“…We hypothesize that his outcomes are attributable, in part, to a germline BRCA2 deletion and somatic GNAS substitution. …”
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49
Seahorse nanos3 plays essential roles in germ cell development in the absence of nanos2
Published 2025-01-01“…Nanos, which encodes conserved zinc-finger RNA-binding proteins, play essential roles for germline development in both vertebrates and invertebrates. …”
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50
A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening
Published 2023-01-01“…We describe a case of germline 22q11.21 microduplication syndrome with concurrent mosaic 22q11.2 deletion in a pregnant patient, identified by chromosomal microarray and FISH after noninvasive prenatal genetic screening (cfDNA) results discordant with family history. …”
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51
Humatch - fast, gene-specific joint humanisation of antibody heavy and light chains
Published 2024-12-01“…We show that these CNNs, alongside germline similarity, can be used for fast humanization that aligns well with known experimental data. …”
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52
Understanding cancer from an evolutionary perspective: high-risk reprogramming of genome-damaged stem cells
Published 2024-01-01“…The ECCB analysis reveals the essence of the non-gametogenic germline of the AMF ancestor, which serves as a blueprint for all metazoan germlines and stem cell lineages and controls the life cycle of cancer. …”
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53
Regeneration in the absence of canonical neoblasts in an early branching flatworm
Published 2025-01-01“…Furthermore, the cohort of germline multipotency genes, which are considered canonical neoblast markers, are not expressed in dividing cells, but in the germline instead, and we experimentally show that they are neither necessary for proliferation nor regeneration. …”
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54
Spherical harmonics texture extraction for versatile analysis of biological objects.
Published 2025-01-01“…Our method can also quantify morphological differences in Caenorhabditis elegans germline nuclei, which lack a predefined pattern. We show that the classification of germline nuclei using their Spherical Texture outperforms a convolutional neural net when training data is limited. …”
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55
Intergenerational transport of double-stranded RNA in C. elegans can limit heritable epigenetic changes
Published 2025-02-01“…Loss of SID-1 enhances initiation of heritable RNA silencing within the germline and causes changes in the expression of the sid-1-dependent gene sdg-1 that last for more than 100 generations after restoration of SID-1. …”
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56
Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report
Published 2025-02-01“…He had a personal and family history of NF1 and carried the germline pathogenic variant NF1 (NM_001042492.3): c.147C>A, p.Y49*. …”
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The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update
Published 2025-02-01“…In addition to the germline events, somatic 16p loss-of-heterozygosity and 104 different somatic events are described. …”
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Chromatin remodeling (SWI/SNF) complexes, cancer, and response to immunotherapy
Published 2022-09-01“…SMARCA4 loss is the hallmark of small cell carcinoma of the ovary hypercalcemic type (and is found in a variety of other malignancies); SMARCA4 germline alterations lead to rhabdoid tumor predisposition syndrome-2; SMARCB1 germline alterations, rhabdoid tumor predisposition syndrome-1. …”
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Improvements in pig agriculture through gene editing
Published 2022-06-01“…Concordant with the developments in genomic sequencing approaches, progress among germline editing efforts is expected to reach feverish pace. …”
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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients
Published 2022-06-01“…This study aimed to describe the germline variations in patients with hereditary cancer using multigene panels. …”
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