REVIEW
|
doi:10.20944/preprints202402.1362.v1
Subject:
Medicine And Pharmacology,
Gastroenterology And Hepatology
Keywords:
hereditary hemochromatosis; iron overload; HFE gene mutation; non-HFE gene mutation; phlebotomy
Online: 25 February 2024 (23:35:08 CET)
ARTICLE
|
doi:10.20944/preprints202305.1290.v1
Subject:
Medicine And Pharmacology,
Dermatology
Keywords:
cutaneous T-cell lymphoma; ultraviolet; mutation signatures; malignant melanoma, whole exome sequencing
Online: 18 May 2023 (07:36:55 CEST)
ARTICLE
|
doi:10.20944/preprints202403.0668.v1
Subject:
Biology And Life Sciences,
Immunology And Microbiology
Keywords:
BRAFV600E mutation; IFN-1 pathway; melanoma
Online: 12 March 2024 (13:48:58 CET)
HYPOTHESIS
|
doi:10.20944/preprints202309.2051.v1
Subject:
Biology And Life Sciences,
Ecology, Evolution, Behavior And Systematics
Keywords:
Lethal mutation; reproductively lethal mutation; reproductive bottlenecking; evolution; natural selection; phenotype; asexual reproduction; sexual reproduction; virus; bacterium; plant; insect, animal; eusociality
Online: 29 September 2023 (08:24:23 CEST)
BRIEF REPORT
|
doi:10.20944/preprints202402.0060.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
DSP; Distal Symmetric Polyneuropathy; mtDNA; Common Deletion mutation
Online: 1 February 2024 (14:09:37 CET)
CASE REPORT
|
doi:10.20944/preprints202312.1693.v2
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
genetic CJD; mutation E200K; COVID-19; prion
Online: 27 December 2023 (05:21:05 CET)
ARTICLE
|
doi:10.20944/preprints202307.1116.v1
Subject:
Public Health And Healthcare,
Public, Environmental And Occupational Health
Keywords:
environmental stressors; pharmaceuticals; antibiotic resistance; selection pressure; public health; tolerant bacteria; environmental pollution; mutation; whole genome sequencing; single nucleotide polymorphisms
Online: 18 July 2023 (05:36:57 CEST)
REVIEW
|
doi:10.20944/preprints202302.0305.v1
Subject:
Computer Science And Mathematics,
Information Systems
Keywords:
genetic databases; mutation disorders; ethnic specific databases
Online: 17 February 2023 (07:59:08 CET)
REVIEW
|
doi:10.20944/preprints202312.0569.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
neurodegenerative diseases; Lewy bodies; neurodegenerative; A53T mutation
Online: 8 December 2023 (07:47:36 CET)
ARTICLE
|
doi:10.20944/preprints202311.1794.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
cancer; ergodicity; BCL2; mutation rate; chromothripsis; rhabdomyosarcoma; genome chaos
Online: 28 November 2023 (10:09:44 CET)
ARTICLE
|
doi:10.20944/preprints202311.0937.v1
Subject:
Biology And Life Sciences,
Ecology, Evolution, Behavior And Systematics
Keywords:
fluctuation assay; Luria-Delbruck distribution; mutation rate evolution
Online: 14 November 2023 (12:55:38 CET)
ARTICLE
|
doi:10.20944/preprints202312.1083.v1
Subject:
Medicine And Pharmacology,
Cardiac And Cardiovascular Systems
Keywords:
thoracic aortic disease; phenotype; genetic mutation; genetic variant; aneurysm; dissection
Online: 14 December 2023 (12:14:50 CET)
REVIEW
|
doi:10.20944/preprints202305.0122.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
Non-small cell lung cancer (NSCLC); EGFR; Tyrosine kinase inhibitors (TKIs); Uncommon mutation; Compound mutation; Intracranial activity; Immunotherapy
Online: 3 May 2023 (09:29:08 CEST)
CASE REPORT
|
doi:10.20944/preprints202401.1009.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
case report; targeted therapy; gene mutation; novel therapy
Online: 12 January 2024 (09:49:20 CET)
ARTICLE
|
doi:10.20944/preprints202306.2193.v1
Subject:
Biology And Life Sciences,
Immunology And Microbiology
Keywords:
Helicobacter pylori; Antibiotic resistance; Mutation rates; American Indian
Online: 30 June 2023 (11:49:29 CEST)
ARTICLE
|
doi:10.20944/preprints202309.1877.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
rod-cone dystrophy; retinitis pigmentosa; RP1 gene; founder effect; inherited retinal dystrophies; founder mutation
Online: 27 September 2023 (11:06:58 CEST)
ARTICLE
|
doi:10.20944/preprints202401.1929.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
PitNETs; alternative splicing, TrkAIII splice variant; HIF2a, Splice factors SF3B1, U2AF and SRSF2, hotspot SF3B1 mutation, Xbp1, JCPyV large T antigen
Online: 26 January 2024 (15:15:02 CET)
ARTICLE
|
doi:10.20944/preprints202309.0117.v1
Subject:
Medicine And Pharmacology,
Pathology And Pathobiology
Keywords:
p53 expression; TP53 mutation; myelodysplasia; myeloblast; bone marrow
Online: 4 September 2023 (07:23:19 CEST)
CASE REPORT
|
doi:10.20944/preprints202306.1051.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
Clinical exome sequencing, C282Y mutation, Hereditary hemochromatosis, HFE gene, Iron overload, Pseudovitelliform maculopathy
Online: 14 June 2023 (13:47:40 CEST)
ARTICLE
|
doi:10.20944/preprints202306.2239.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
KRAS mutation; colorectal cancer; texture analysis; radiomics, radiogenomics.
Online: 30 June 2023 (11:25:24 CEST)
ARTICLE
|
doi:10.20944/preprints202403.0577.v1
Subject:
Public Health And Health Services,
Public Health And Healthcare
Keywords:
Darier disease; Gene Mutation; SERCA2; cardiomyocyte disconnection
Online: 11 March 2024 (09:41:01 CET)
ARTICLE
|
doi:10.20944/preprints202309.1034.v1
Subject:
Medicine And Pharmacology,
Pathology And Pathobiology
Keywords:
papillary thyroid carcinoma; BRAF-like; RAS-like; BRAFV600E; RAS mutation; prediction model
Online: 15 September 2023 (10:54:29 CEST)
ARTICLE
|
doi:10.20944/preprints202310.0969.v1
Subject:
Computer Science And Mathematics,
Computer Science
Keywords:
software engineering; test code refactoring; test smells; mutation testing
Online: 16 October 2023 (13:35:47 CEST)
CASE REPORT
|
doi:10.20944/preprints202306.0535.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
brain metastases; NSCLC; predictive biomarkers for radiotherapy; radiotherapy; prognostic scores; WBRT; BRAF mutation
Online: 7 June 2023 (10:37:52 CEST)
ARTICLE
|
doi:10.20944/preprints202312.1727.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
amyotrophic lateral sclerosis; ATXN2, risk factor; frontotemporal dementia; mutation; poli-Q expansion
Online: 22 December 2023 (12:28:30 CET)
ARTICLE
|
doi:10.20944/preprints202310.0672.v1
Subject:
Biology And Life Sciences,
Virology
Keywords:
bright yellow mosaic; coat protein; mutation; PepMV strains; symptom induction; virus evolution
Online: 11 October 2023 (09:17:05 CEST)
ARTICLE
|
doi:10.20944/preprints202312.1928.v2
Subject:
Biology And Life Sciences,
Ecology, Evolution, Behavior And Systematics
Keywords:
COVID-19; spike protein; virus mutation; evolutionary theory
Online: 26 March 2024 (11:33:54 CET)
ARTICLE
|
doi:10.20944/preprints202311.1048.v1
Subject:
Biology And Life Sciences,
Biophysics
Keywords:
Insulin icodec; Molecular design; Site-specific mutation; Structural biophysics
Online: 16 November 2023 (11:16:57 CET)
ARTICLE
|
doi:10.20944/preprints202306.0490.v1
Subject:
Computer Science And Mathematics,
Computer Science
Keywords:
Data flow testing; higher-order mutation testing; “ProbSubsumes”; “ProbBetter”
Online: 7 June 2023 (08:22:34 CEST)
REVIEW
|
doi:10.20944/preprints202402.0226.v2
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
Keywords: Mutation; Col18A1; Knobloch syndrome; mouse modeling; treatments
Online: 6 February 2024 (03:51:30 CET)
REVIEW
|
doi:10.20944/preprints202403.0990.v1
Subject:
Biology And Life Sciences,
Ecology, Evolution, Behavior And Systematics
Keywords:
Non-adaptive radiation, mutation rates, species richness, species evenness, karyotype diversity, DNA repair systems
Online: 18 March 2024 (10:47:25 CET)
ARTICLE
|
doi:10.20944/preprints202404.0092.v2
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
p53 loss; KRAS mutation; SLC7A11; SLC38A5; ferroptosis; macropinocytosis; antioxidant machinery; lipid peroxidation; niclosamide; colon cancer
Online: 4 April 2024 (12:58:46 CEST)
ARTICLE
|
doi:10.20944/preprints202311.0441.v1
Subject:
Biology And Life Sciences,
Agricultural Science And Agronomy
Keywords:
OsNRAMP5; cadmium; manganese; rice; transporter; random mutation
Online: 7 November 2023 (11:23:32 CET)
COMMUNICATION
|
doi:10.20944/preprints202401.1387.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
Mycoplasma pneumoniae; macrolide; mutation; azithromycin
Online: 18 January 2024 (13:59:07 CET)
ARTICLE
|
doi:10.20944/preprints202404.1005.v2
Subject:
Biophysics,
Biology And Life Sciences
Keywords:
Gene expression; Mutation; Information theory; Entropy; Second law of thermodynamics; Laws; Laws of nature
Online: 28 April 2024 (04:43:07 CEST)
ARTICLE
|
doi:10.20944/preprints202306.0313.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
Liquid biopsy; EGFR; NSCLC; T790M mutation; NGS; PCR
Online: 5 June 2023 (11:06:11 CEST)
REVIEW
|
doi:10.20944/preprints202401.2065.v1
Subject:
Medicine And Pharmacology,
Endocrinology And Metabolism
Keywords:
Thyroid cancer; fine needle aspiration; thyroid nodule; molecular cytology; genetic analysis; mutation
Online: 30 January 2024 (04:57:53 CET)
ARTICLE
|
doi:10.20944/preprints202403.1825.v1
Subject:
Medicine And Pharmacology,
Other
Keywords:
hyperinsulinemic hypoglycemia; ABCC8 gene; mutation; ATP- sensitive potassium channel; genetic heterogeneity; phenotypic variability
Online: 29 March 2024 (08:08:35 CET)
ARTICLE
|
doi:10.20944/preprints202307.0385.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
papillary thyroid cancer; BRAFV600E mutation; lymph node metastasis; prognosis; outcomes.
Online: 6 July 2023 (07:14:21 CEST)
REVIEW
|
doi:10.20944/preprints202403.0720.v1
Subject:
Medicine And Pharmacology,
Gastroenterology And Hepatology
Keywords:
early onset gastrointestinal malignancies; young adult cancer; early onset colorectal cancer; early onset esophageal cancer; esophageal adenocarcinoma; esophageal squamous cell carcinoma; early onset gastric cancer; early onset pancreatic cancer; early onset liver cancer; gastrointestinal malignancy; hepatocellular carcinoma; BRCA mutation; ATM mutation; MLH1; MSH2; MSH6; PRSS1; early onset biliary malignancy
Online: 12 March 2024 (14:33:15 CET)
ARTICLE
|
doi:10.20944/preprints202403.0287.v1
Subject:
Chemistry And Materials Science,
Nanotechnology
Keywords:
gold nanoprobe; DNA detection; EGRF mutation; non-cross linking; UV-Vis
Online: 6 March 2024 (08:48:55 CET)
ARTICLE
|
doi:10.20944/preprints202311.1474.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
breast cancer; mitochondrial gene; MT-TL2 gene; mutation; sequencing
Online: 23 November 2023 (05:44:55 CET)
REVIEW
|
doi:10.20944/preprints202307.1210.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
Peripheral arterial diseases; Somatic mutation; Thrombosis; Atherosclerosis; Inflammation; Genetic disorders
Online: 18 July 2023 (10:13:12 CEST)
REVIEW
|
doi:10.20944/preprints202309.0571.v1
Subject:
Biology And Life Sciences,
Immunology And Microbiology
Keywords:
immunotherapy, EGFR mutation, non-small cell lung cancer
Online: 8 September 2023 (09:51:50 CEST)
CASE REPORT
|
doi:10.20944/preprints202307.2129.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
brain metastases; NSCLC; predictive biomarkers for radiotherapy; radiotherapy; prognostic scores; WBRT; BRAF mutation
Online: 31 July 2023 (11:49:37 CEST)
ARTICLE
|
doi:10.20944/preprints202312.2154.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
lung cancer; oligo-recurrence; driver mutation; local therapy; molecular targeted therapy
Online: 28 December 2023 (10:23:13 CET)
ARTICLE
|
doi:10.20944/preprints202405.0666.v1
Subject:
Oncology And Oncogenics,
Medicine And Pharmacology
Keywords:
Breast Cancer; Genomics; Genetic Mutation; Biomarker; Galectins; Metastasis
Online: 10 May 2024 (11:30:43 CEST)
ARTICLE
|
doi:10.20944/preprints202311.1760.v1
Subject:
Engineering,
Electrical And Electronic Engineering
Keywords:
Ultralight power generation system; Load power mutation; Exquisite control strategy; Mismatching degree; High-quality electrical energy
Online: 28 November 2023 (10:30:40 CET)
ARTICLE
|
doi:10.20944/preprints202404.1167.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
Wilms’ tumor; Chemotherapy resistance; Biomarkers; Somatic mutation; Targeted therapy; Cancer-driver mutation
Online: 17 April 2024 (15:03:01 CEST)
REVIEW
|
doi:10.20944/preprints202405.1340.v1
Subject:
Epidemiology And Infectious Diseases,
Medicine And Pharmacology
Keywords:
HIV-1; drug resistance; M184V; mutation; naïve; treatment experienced
Online: 21 May 2024 (05:02:58 CEST)
ARTICLE
|
doi:10.20944/preprints202404.1922.v1
Subject:
Biophysics,
Biology And Life Sciences
Keywords:
Insulin icodec; Binding affinity; Site-specific mutation; Receptor-mediated internalization
Online: 29 April 2024 (11:57:55 CEST)
ARTICLE
|
doi:10.20944/preprints202405.0417.v1
Subject:
Oncology And Oncogenics,
Medicine And Pharmacology
Keywords:
non-melanoma skin cancer; cutaneous squamous cell carcinoma (cSCC); recurrent cSCC; next generation sequencing (NGS); mutation profile; immunogenicity
Online: 8 May 2024 (09:17:25 CEST)
ARTICLE
|
doi:10.20944/preprints202405.0512.v1
Subject:
Biochemistry And Molecular Biology,
Biology And Life Sciences
Keywords:
Methylation analysis; Molecular modelling; IDH2 mutation,
Online: 8 May 2024 (15:31:32 CEST)